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ncbi_disease_knowledge_2_shots_256

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The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: The chromosomal order of genes controlling the major histocompatibility complex, properdin factor B, and deficiency of the second component of complement. Useful knowledge : ||| chromosomal order definition: Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429) ||| genes definition: A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms. ||| controlling definition: None ||| major histocompatibility complex definition: The genetic region which contains the loci of genes which determine the structure of the serologically defined (SD) and lymphocyte-defined (LD) TRANSPLANTATION ANTIGENS, genes which control the structure of the IMMUNE RESPONSE-ASSOCIATED ANTIGENS, HUMAN; the IMMUNE RESPONSE GENES which control the ability of an animal to respond immunologically to antigenic stimuli, and genes which determine the structure and/or level of the first four components of complement. ||| properdin factor B definition: A glycine-rich, heat-labile serum glycoprotein that contains a component of the C3 CONVERTASE ALTERNATE PATHWAY (C3bBb). Bb, a serine protease, is generated when factor B is cleaved by COMPLEMENT FACTOR D into Ba and Bb. ||| deficiency definition: None ||| complement definition: The complement system is a complex system of serum proteins that interact in a cascade. Many of the early components are serine proteases that activate each other sequentially. This complement system consists of three separate activation triggers: (1) Ab binding to a cell surface, (2) formation of immune complexes, and (3) a carbohydrate component of a microbe's cell membrane. Along with this triggers, there are also two sets of mechanisms. Both of these mechanisms, classical pathway and alternative or properdin pathway, make MAC (Membrane Attack Complex), which can lyse and destroy the cell. ||| Output:

The chromosomal order of genes controlling the major histocompatibility complex, properdin factor B, and @@deficiency of the second component of complement##.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: The relationship of the genes coding for HLA to those coding for properdin Factor B allotypes and for deficiency of the second component of complement (C2) was studied in families of patients with connective tissue disorders. Useful knowledge : ||| relationship definition: A state of connectedness between people, objects, or events; to be associated or connected with something. ||| genes coding definition: The activity of implementing rules that are used to map the elements of one set onto the elements of another set, usually on a one-to-one basis. ||| HLA definition: Antigens determined by leukocyte loci found on chromosome 6, the major histocompatibility loci in humans. They are polypeptides or glycoproteins found on most nucleated cells and platelets, determine tissue types for transplantation, and are associated with certain diseases. ||| coding definition: The activity of implementing rules that are used to map the elements of one set onto the elements of another set, usually on a one-to-one basis. ||| properdin Factor B allotypes definition: A glycine-rich, heat-labile serum glycoprotein that contains a component of the C3 CONVERTASE ALTERNATE PATHWAY (C3bBb). Bb, a serine protease, is generated when factor B is cleaved by COMPLEMENT FACTOR D into Ba and Bb. ||| deficiency definition: None ||| families definition: A social group consisting of parents or parent substitutes and children. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| connective tissue disorders definition: A heterogeneous group of disorders, some hereditary, others acquired, characterized by abnormal structure or function of one or more of the elements of connective tissue, i.e., collagen, elastin, or the mucopolysaccharides. ||| Output:

The relationship of the genes coding for HLA to those coding for properdin Factor B allotypes and for @@deficiency of the second component of complement## (C2) was studied in families of patients with connective tissue disorders.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Patients were selected because they were heterozygous or homozygous for C2 deficiency. Useful knowledge : ||| Patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| heterozygous definition: An individual having different alleles at one or more loci regarding a specific character. ||| homozygous definition: An individual in which both alleles at a given locus are identical. ||| C2 deficiency definition: Lack of production of functional C2 protein, due to a genetic defect. It is the most common genetic complement deficiency. Ten percent of C2 deficient patient will develop systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae. ||| Output:

Patients were selected because they were heterozygous or homozygous for @@C2 deficiency##.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: 12 families with 15 matings informative for C2 deficiency were found. Useful knowledge : ||| families definition: A social group consisting of parents or parent substitutes and children. ||| informative definition: Refers to data that is useful in forming an opinion or judging an outcome. ||| C2 deficiency definition: Lack of production of functional C2 protein, due to a genetic defect. It is the most common genetic complement deficiency. Ten percent of C2 deficient patient will develop systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae. ||| Output:

12 families with 15 matings informative for @@C2 deficiency## were found.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Of 57 informative meioses, two crossovers were noted between the C2 deficiency gene and the HLA-B gene, with a recombinant fraction of 0. Useful knowledge : ||| informative meioses definition: Refers to data that is useful in forming an opinion or judging an outcome. ||| crossovers definition: Studies comparing two or more treatments or interventions in which the subjects or patients, upon completion of the course of one treatment, are switched to another. In the case of two treatments, A and B, half the subjects are randomly allocated to receive these in the order A, B and half to receive them in the order B, A. A criticism of this design is that effects of the first treatment may carry over into the period when the second is given. (Last, A Dictionary of Epidemiology, 2d ed) ||| C2 deficiency gene definition: Lack of production of functional C2 protein, due to a genetic defect. It is the most common genetic complement deficiency. Ten percent of C2 deficient patient will develop systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae. ||| HLA-B gene definition: This gene plays a role in both immune responses and histocompatibility processes. ||| recombinant fraction definition: The percentage of individuals in a population with a non-parental genotype. ||| Output:

Of 57 informative meioses, two crossovers were noted between the @@C2 deficiency## gene and the HLA-B gene, with a recombinant fraction of 0.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: 035. Useful knowledge : ||| Output:

035.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: A lod score of 13 was calculated for linkage between C2 deficiency and HLA-B at a maximum likelihood value of the recombinant fraction of 0. Useful knowledge : ||| lod score definition: The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds." ||| calculated definition: None ||| linkage definition: A study in which data from different sources are "linked". Usually used to compile epidemiological data. The logic of record linkage is that two or more items of information about a person recorded at different times, and perhaps in different places, may be of greater value when considered together than when either is considered alone. ||| C2 deficiency definition: Lack of production of functional C2 protein, due to a genetic defect. It is the most common genetic complement deficiency. Ten percent of C2 deficient patient will develop systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae. ||| HLA-B definition: Class I human histocompatibility (HLA) surface antigens encoded by more than 30 detectable alleles on locus B of the HLA complex, the most polymorphic of all the HLA specificities. Several of these antigens (e.g., HLA-B27, -B7, -B8) are strongly associated with predisposition to rheumatoid and other autoimmune disorders. Like other class I HLA determinants, they are involved in the cellular immune reactivity of cytolytic T lymphocytes. ||| maximum definition: The largest possible quantity or degree. ||| likelihood value definition: The study of chance processes or the relative frequency characterizing a chance process. ||| recombinant fraction definition: The percentage of individuals in a population with a non-parental genotype. ||| Output:

A lod score of 13 was calculated for linkage between @@C2 deficiency## and HLA-B at a maximum likelihood value of the recombinant fraction of 0.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: 04. Useful knowledge : ||| Output:

04.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: 18 families with 21 informative matings for both properdin Factor B allotype and HLA-B were found. Useful knowledge : ||| families definition: A social group consisting of parents or parent substitutes and children. ||| properdin Factor B allotype definition: A glycine-rich, heat-labile serum glycoprotein that contains a component of the C3 CONVERTASE ALTERNATE PATHWAY (C3bBb). Bb, a serine protease, is generated when factor B is cleaved by COMPLEMENT FACTOR D into Ba and Bb. ||| HLA-B definition: Class I human histocompatibility (HLA) surface antigens encoded by more than 30 detectable alleles on locus B of the HLA complex, the most polymorphic of all the HLA specificities. Several of these antigens (e.g., HLA-B27, -B7, -B8) are strongly associated with predisposition to rheumatoid and other autoimmune disorders. Like other class I HLA determinants, they are involved in the cellular immune reactivity of cytolytic T lymphocytes. ||| Output:

18 families with 21 informative matings for both properdin Factor B allotype and HLA-B were found.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Of 72 informative meioses, three recombinants were found, giving a recombinant fraction of 0. Useful knowledge : ||| informative meioses definition: Refers to data that is useful in forming an opinion or judging an outcome. ||| recombinants definition: An individual cell or organisms which carries recombinant DNA ||| recombinant fraction definition: The percentage of individuals in a population with a non-parental genotype. ||| Output:

Of 72 informative meioses, three recombinants were found, giving a recombinant fraction of 0.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: 042. Useful knowledge : ||| Output:

042.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: A lod score of 16 between HLA-B and Factor B allotypes was calculated at a maximum likelihood value of the recombinant fraction of 0. Useful knowledge : ||| lod score definition: The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds." ||| HLA-B definition: Class I human histocompatibility (HLA) surface antigens encoded by more than 30 detectable alleles on locus B of the HLA complex, the most polymorphic of all the HLA specificities. Several of these antigens (e.g., HLA-B27, -B7, -B8) are strongly associated with predisposition to rheumatoid and other autoimmune disorders. Like other class I HLA determinants, they are involved in the cellular immune reactivity of cytolytic T lymphocytes. ||| calculated definition: None ||| maximum definition: The largest possible quantity or degree. ||| likelihood value definition: The study of chance processes or the relative frequency characterizing a chance process. ||| recombinant fraction definition: The percentage of individuals in a population with a non-parental genotype. ||| Output:

A lod score of 16 between HLA-B and Factor B allotypes was calculated at a maximum likelihood value of the recombinant fraction of 0.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: 04. Useful knowledge : ||| Output:

04.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: A crossover was shown to have occurred between genes for Factor B and HLA-D, in which HLA-D segregared with HLA-A and B. Useful knowledge : ||| crossover definition: Studies comparing two or more treatments or interventions in which the subjects or patients, upon completion of the course of one treatment, are switched to another. In the case of two treatments, A and B, half the subjects are randomly allocated to receive these in the order A, B and half to receive them in the order B, A. A criticism of this design is that effects of the first treatment may carry over into the period when the second is given. (Last, A Dictionary of Epidemiology, 2d ed) ||| genes definition: A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms. ||| Factor B definition: A glycine-rich, heat-labile serum glycoprotein that contains a component of the C3 CONVERTASE ALTERNATE PATHWAY (C3bBb). Bb, a serine protease, is generated when factor B is cleaved by COMPLEMENT FACTOR D into Ba and Bb. ||| HLA-D definition: Human immune-response or Class II antigens found mainly, but not exclusively, on B-lymphocytes and produced from genes of the HLA-D locus. They are extremely polymorphic families of glycopeptides, each consisting of two chains, alpha and beta. This group of antigens includes the -DR, -DQ and -DP designations, of which HLA-DR is most studied; some of these glycoproteins are associated with certain diseases, possibly of immune etiology. ||| HLA-D definition: Human immune-response or Class II antigens found mainly, but not exclusively, on B-lymphocytes and produced from genes of the HLA-D locus. They are extremely polymorphic families of glycopeptides, each consisting of two chains, alpha and beta. This group of antigens includes the -DR, -DQ and -DP designations, of which HLA-DR is most studied; some of these glycoproteins are associated with certain diseases, possibly of immune etiology. ||| HLA-A definition: Polymorphic class I human histocompatibility (HLA) surface antigens present on almost all nucleated cells. At least 20 antigens have been identified which are encoded by the A locus of multiple alleles on chromosome 6. They serve as targets for T-cell cytolytic responses and are involved with acceptance or rejection of tissue/organ grafts. ||| B. definition: An exotic species of the family CYPRINIDAE, originally from Asia, that has been introduced in North America. Zebrafish is a model organism for drug assay and cancer research. ||| Output:

A crossover was shown to have occurred between genes for Factor B and HLA-D, in which HLA-D segregared with HLA-A and B.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: These studies suggest that the genes for Factor B and C2 deficiency are located outside those for HLA, that the order of genese is HLA-A, -B, -D, Factor B allotype, C2 deficiency, that the genes coding for C2 deficiency and Factor B allotypes are approximately 3--5 centimorgans from the HLA-A and HLA-B loci, and that the apparent lack of recombinants between the Factor B gene and C2 deficiency gene suggests that these two genes lie in close proximity to one another. Useful knowledge : ||| studies definition: None ||| genes definition: A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms. ||| Factor B and C2 deficiency definition: Lack of production of functional C2 protein, due to a genetic defect. It is the most common genetic complement deficiency. Ten percent of C2 deficient patient will develop systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae. ||| HLA definition: Antigens determined by leukocyte loci found on chromosome 6, the major histocompatibility loci in humans. They are polypeptides or glycoproteins found on most nucleated cells and platelets, determine tissue types for transplantation, and are associated with certain diseases. ||| genese definition: A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms. ||| HLA-A definition: Polymorphic class I human histocompatibility (HLA) surface antigens present on almost all nucleated cells. At least 20 antigens have been identified which are encoded by the A locus of multiple alleles on chromosome 6. They serve as targets for T-cell cytolytic responses and are involved with acceptance or rejection of tissue/organ grafts. ||| Factor B allotype definition: None ||| C2 deficiency definition: Lack of production of functional C2 protein, due to a genetic defect. It is the most common genetic complement deficiency. Ten percent of C2 deficient patient will develop systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae. ||| genes coding definition: The activity of implementing rules that are used to map the elements of one set onto the elements of another set, usually on a one-to-one basis. ||| C2 deficiency definition: Lack of production of functional C2 protein, due to a genetic defect. It is the most common genetic complement deficiency. Ten percent of C2 deficient patient will develop systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae. ||| HLA-A definition: Polymorphic class I human histocompatibility (HLA) surface antigens present on almost all nucleated cells. At least 20 antigens have been identified which are encoded by the A locus of multiple alleles on chromosome 6. They serve as targets for T-cell cytolytic responses and are involved with acceptance or rejection of tissue/organ grafts. ||| HLA-B loci definition: Class I human histocompatibility (HLA) surface antigens encoded by more than 30 detectable alleles on locus B of the HLA complex, the most polymorphic of all the HLA specificities. Several of these antigens (e.g., HLA-B27, -B7, -B8) are strongly associated with predisposition to rheumatoid and other autoimmune disorders. Like other class I HLA determinants, they are involved in the cellular immune reactivity of cytolytic T lymphocytes. ||| apparent definition: None ||| recombinants definition: An individual cell or organisms which carries recombinant DNA ||| Factor B gene definition: A glycine-rich, heat-labile serum glycoprotein that contains a component of the C3 CONVERTASE ALTERNATE PATHWAY (C3bBb). Bb, a serine protease, is generated when factor B is cleaved by COMPLEMENT FACTOR D into Ba and Bb. ||| C2 deficiency gene definition: Lack of production of functional C2 protein, due to a genetic defect. It is the most common genetic complement deficiency. Ten percent of C2 deficient patient will develop systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae. ||| genes definition: A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms. ||| proximity definition: The state or quality of being next; immediate nearness either in time, place, blood or alliance. ||| Output:

These studies suggest that the genes for Factor B and @@C2 deficiency## are located outside those for HLA, that the order of genese is HLA-A, -B, -D, Factor B allotype, @@C2 deficiency##, that the genes coding for @@C2 deficiency## and Factor B allotypes are approximately 3--5 centimorgans from the HLA-A and HLA-B loci, and that the apparent lack of recombinants between the Factor B gene and @@C2 deficiency## gene suggests that these two genes lie in close proximity to one another.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: A novel missense mutation in patients from a retinoblastoma pedigree showing only mild expression of the tumor phenotype. Useful knowledge : ||| missense mutation definition: A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed) ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| retinoblastoma definition: A malignant tumor arising from the nuclear layer of the retina that is the most common primary tumor of the eye in children. The tumor tends to occur in early childhood or infancy and may be present at birth. The majority are sporadic, but the condition may be transmitted as an autosomal dominant trait. Histologic features include dense cellularity, small round polygonal cells, and areas of calcification and necrosis. An abnormal pupil reflex (leukokoria); NYSTAGMUS, PATHOLOGIC; STRABISMUS; and visual loss represent common clinical characteristics of this condition. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2104) ||| pedigree definition: The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. ||| mild definition: None ||| expression definition: The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION. ||| tumor definition: New abnormal growth of tissue. Malignant neoplasms show a greater degree of anaplasia and have the properties of invasion and metastasis, compared to benign neoplasms. ||| phenotype definition: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. ||| Output:

A novel missense mutation in patients from a @@retinoblastoma## pedigree showing only mild expression of the @@tumor## phenotype.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: We have used single strand conformation polymorphism analysis to study the 27 exons of the RB1 gene in individuals from a family showing mild expression of the retinoblastoma phenotype. Useful knowledge : ||| single strand conformation definition: Variation in a population's DNA sequence that is detected by determining alterations in the conformation of denatured DNA fragments. Denatured DNA fragments are allowed to renature under conditions that prevent the formation of double-stranded DNA and allow secondary structure to form in single stranded fragments. These fragments are then run through polyacrylamide gels to detect variations in the secondary structure that is manifested as an alteration in migration through the gels. ||| polymorphism definition: The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level. ||| analysis definition: None ||| study definition: A work that reports on the results of a research study to evaluate interventions or exposures on biomedical or health-related outcomes. The two main types of clinical studies are interventional studies (clinical trials) and observational studies. While most clinical studies concern humans, this publication type may be used for clinical veterinary articles meeting the requisites for humans. ||| exons definition: The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA. ||| RB1 gene definition: This gene is involved in the regulation of cell differentiation, growth and proliferation. ||| individuals definition: Persons as individuals (e.g., ABORTION APPLICANTS) or as members of a group (e.g., HISPANIC AMERICANS). It is not used for members of the various professions (e.g., PHYSICIANS) or occupations (e.g., LIBRARIANS) for which OCCUPATIONAL GROUPS is available. ||| family definition: A social group consisting of parents or parent substitutes and children. ||| expression definition: The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION. ||| retinoblastoma definition: A malignant tumor arising from the nuclear layer of the retina that is the most common primary tumor of the eye in children. The tumor tends to occur in early childhood or infancy and may be present at birth. The majority are sporadic, but the condition may be transmitted as an autosomal dominant trait. Histologic features include dense cellularity, small round polygonal cells, and areas of calcification and necrosis. An abnormal pupil reflex (leukokoria); NYSTAGMUS, PATHOLOGIC; STRABISMUS; and visual loss represent common clinical characteristics of this condition. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2104) ||| phenotype definition: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. ||| Output:

We have used single strand conformation polymorphism analysis to study the 27 exons of the RB1 gene in individuals from a family showing mild expression of the @@retinoblastoma## phenotype.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: In this family affected individuals developed unilateral tumors and, as a result of linkage analysis, unaffected mutation carriers were also identified within the pedigree. Useful knowledge : ||| family definition: A social group consisting of parents or parent substitutes and children. ||| affected definition: To be influenced by or changed. ||| individuals definition: Persons as individuals (e.g., ABORTION APPLICANTS) or as members of a group (e.g., HISPANIC AMERICANS). It is not used for members of the various professions (e.g., PHYSICIANS) or occupations (e.g., LIBRARIANS) for which OCCUPATIONAL GROUPS is available. ||| unilateral tumors definition: Involving only one part or side. ||| linkage analysis definition: The determination of the physical association and distance between of two or more non-allelic GENES by measuring their co-inheritance or mapping their physical location on the same CHROMOSOME. ||| mutation definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| carriers definition: An individual who carries an inheritable genetic mutation without manifestation of the associated condition. ||| identified definition: The procedure of having an identity established. ||| pedigree definition: The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. ||| Output:

In this family affected individuals developed @@unilateral tumors## and, as a result of linkage analysis, unaffected mutation carriers were also identified within the pedigree.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: A single band shift using SSCP was identified in exon 21 which resulted in a missense mutation converting a cys-- > arg at nucleotide position 28 in the exon. Useful knowledge : ||| SSCP definition: Variation in a population's DNA sequence that is detected by determining alterations in the conformation of denatured DNA fragments. Denatured DNA fragments are allowed to renature under conditions that prevent the formation of double-stranded DNA and allow secondary structure to form in single stranded fragments. These fragments are then run through polyacrylamide gels to detect variations in the secondary structure that is manifested as an alteration in migration through the gels. ||| exon 21 definition: The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA. ||| missense mutation definition: A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed) ||| nucleotide position definition: The monomeric units from which DNA or RNA polymers are constructed. They consist of a purine or pyrimidine base, a pentose sugar, and a phosphate group. (From King & Stansfield, A Dictionary of Genetics, 4th ed) ||| exon definition: The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA. ||| Output:

A single band shift using SSCP was identified in exon 21 which resulted in a missense mutation converting a cys-- > arg at nucleotide position 28 in the exon.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: The mutation destroyed an NdeI restriction enzyme site. Useful knowledge : ||| mutation definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| destroyed definition: A finding referring to a medical device that has been demolished. ||| enzyme site definition: Biological molecules that possess catalytic activity. They may occur naturally or be synthetically created. Enzymes are usually proteins, however CATALYTIC RNA and CATALYTIC DNA molecules have also been identified. ||| Output:

The mutation destroyed an NdeI restriction enzyme site.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Analysis of all family members demonstrated that the missense mutation co-segregated with patients with tumors or who, as a result of linkage analysis had been predicted to carry the predisposing mutation. Useful knowledge : ||| Analysis definition: None ||| family members definition: Any of the individuals who are descended from a common progenitor, related by marriage or other legal tie, or by a feeling of closeness. ||| missense mutation definition: A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed) ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| tumors definition: New abnormal growth of tissue. Malignant neoplasms show a greater degree of anaplasia and have the properties of invasion and metastasis, compared to benign neoplasms. ||| linkage analysis definition: The determination of the physical association and distance between of two or more non-allelic GENES by measuring their co-inheritance or mapping their physical location on the same CHROMOSOME. ||| predisposing mutation definition: A constitution or condition of the body which makes the tissues react in special ways to certain extrinsic stimuli and thus tends to make the individual more than usually susceptible to certain diseases. ||| Output:

Analysis of all family members demonstrated that the missense mutation co-segregated with patients with @@tumors## or who, as a result of linkage analysis had been predicted to carry the predisposing mutation.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: These observations point to another region of the RB1 gene where mutations only modify the function of the gene and raise important questions for genetic counseling in families with these distinctive phenotypes.. Useful knowledge : ||| observations definition: The act of regarding attentively and studying facts and occurrences, gathering data through analyzing, measuring, and drawing conclusions, with the purpose of applying the observed information to theoretical assumptions. Observation as a scientific method in the acquisition of knowledge began in classical antiquity; in modern science and medicine its greatest application is facilitated by modern technology. Observation is one of the components of the research process. ||| region definition: The continents and countries situated on those continents; the UNITED STATES and each of the constituent states arranged by region; CANADA and each of its provinces; AUSTRALIA and each of its states; the major bodies of water and major islands on both hemispheres; and selected major cities. ||| RB1 gene definition: This gene is involved in the regulation of cell differentiation, growth and proliferation. ||| mutations definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| modify definition: <p>Change the status of an object representing an Act.</p> ||| function definition: Used with organs, tissues, and cells of unicellular and multicellular organisms for normal function. It is used also with biochemical substances, endogenously produced, for their physiologic role. ||| gene definition: A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms. ||| questions definition: A sentence of inquiry that asks for a reply; a request for information (e.g., a formal request to a database or search engine). ||| genetic counseling definition: An educational process that provides information and advice to individuals or families about a genetic condition that may affect them. The purpose is to help individuals make informed decisions about marriage, reproduction, and other health management issues based on information about the genetic disease, the available diagnostic tests, and management programs. Psychosocial support is usually offered. ||| families definition: A social group consisting of parents or parent substitutes and children. ||| phenotypes definition: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. ||| Output:

These observations point to another region of the RB1 gene where mutations only modify the function of the gene and raise important questions for genetic counseling in families with these distinctive phenotypes..

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Complement C7 deficiency: seven further molecular defects and their associated marker haplotypes. Useful knowledge : ||| Complement C7 deficiency definition: A broad classification for rare genetic disorders with mostly autosomal recessive patterns of inheritance. They are caused by the ineffective or decreased biosynthesis of complement components. Complement deficiencies may also be acquired acutely post-infection or chronically from co-morbid autoimmune disorders. If complement components are adequately synthesized, their rapid depletion may result in functional deficiencies. Clinical signs of inherited deficiencies present within the first decade of life and are consistent with the signs of recurrent systemic infection or immune complex disease. Complement deficiencies decrease the effectiveness of the humoral immune response. Of all the complement deficiencies, C3 deficiency is associated with the poorest prognosis since it presents at an early age, when susceptibility to recurrent infection is great. Deficiencies of C3 and of the classical activating pathway components: C1, C4, C2 also predispose to immune complex disease. ||| marker definition: A visual indicator of position, place or route. ||| haplotypes definition: The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX. ||| Output:

@@Complement C7 deficiency##: seven further molecular defects and their associated marker haplotypes.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Seven further molecular bases of C7 deficiency are described. Useful knowledge : ||| molecular bases definition: Relating to or produced by or consisting of molecules. ||| C7 deficiency definition: None ||| Output:

Seven further molecular bases of @@C7 deficiency## are described.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: All these new molecular defects involve single-nucleotide events, deletions and substitutions, some of which alter splice sites, and others codons. Useful knowledge : ||| deletions definition: A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus. ||| substitutions definition: <p>Definition: Indicates that the subject Act has undergone or should undergo substitution of a type indicated by Act.code.</p><p>Rationale: Used to specify "allowed" substitution when creating orders, "actual" susbstitution when sending events, as well as the reason for the substitution and who was responsible for it.</p> ||| splice sites definition: Nucleotide sequences located at the ends of EXONS and recognized in pre-messenger RNA by SPLICEOSOMES. They are joined during the RNA SPLICING reaction, forming the junctions between exons. ||| codons definition: A set of three nucleotides in a protein coding sequence that specifies individual amino acids or a termination signal (CODON, TERMINATOR). Most codons are universal, but some organisms do not produce the transfer RNAs (RNA, TRANSFER) complementary to all codons. These codons are referred to as unassigned codons (CODONS, NONSENSE). ||| Output:

All these new molecular defects involve single-nucleotide events, deletions and substitutions, some of which alter splice sites, and others codons.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: They are distributed along the C7 gene, but predominantly towards the 3 end. Useful knowledge : ||| C7 gene definition: None ||| Output:

They are distributed along the C7 gene, but predominantly towards the 3 end.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: All were found in compound heterozygous individuals. Useful knowledge : ||| compound definition: None ||| heterozygous definition: An individual having different alleles at one or more loci regarding a specific character. ||| individuals definition: Persons as individuals (e.g., ABORTION APPLICANTS) or as members of a group (e.g., HISPANIC AMERICANS). It is not used for members of the various professions (e.g., PHYSICIANS) or occupations (e.g., LIBRARIANS) for which OCCUPATIONAL GROUPS is available. ||| Output:

All were found in compound heterozygous individuals.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: The C6/C7 marker haplotypes associated with most C7 defects are tabulated.. Useful knowledge : ||| haplotypes definition: The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX. ||| associated with definition: Joined in some kind of relationship. ||| C7 definition: None ||| defects definition: None ||| Output:

The C6/C7 marker haplotypes associated with most @@C7 defects## are tabulated..

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database. Useful knowledge : ||| Identification definition: A process by which an individual unconsciously endeavors to pattern himself after another. This process is also important in the development of the personality, particularly the superego or conscience, which is modeled largely on the behavior of adult significant others. ||| constitutional definition: Existing as an essential characteristic. ||| WT1 definition: An embryonal neoplasm characterized by the presence of epithelial, mesenchymal, and blastema components. The vast majority of cases arise from the kidney. A small number of cases with morphologic features resembling Wilms tumor of the kidney have been reported arising from the ovary and the cervix. ||| mutations definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| isolated diffuse definition: Widely spread; not localized or confined. ||| mesangial sclerosis definition: Nephrotic syndrome within the first three motnhs of life, characterized initially by increased mesangial matrix, with or without hypertrophy and hyperplasia of podocytes, and eventual glomerular sclerosis. ||| analysis definition: None ||| genotype/phenotype definition: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS. ||| correlations definition: The degree to which two or more quantities or events are linearly associated, a statistical relation between two or more variables such that systematic changes in the value of one variable are accompanied by systematic changes in the others. ||| Output:

Identification of constitutional WT1 mutations, in patients with isolated @@diffuse mesangial sclerosis##, and analysis of genotype/phenotype correlations by use of a computerized mutation database.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Constitutional mutations of the WT1 gene, encoding a zinc-finger transcription factor involved in renal and gonadal development, are found in most patients with Denys-Drash syndrome (DDS), or diffuse mesangial sclerosis (DMS) associated with pseudohermaphroditism and/or Wilms tumor (WT). Useful knowledge : ||| Constitutional mutations definition: Existing as an essential characteristic. ||| WT1 gene definition: This gene plays a role in regulation of transcription. It is involved in the control of both cell differentiation and proliferation. ||| encoding definition: None ||| zinc-finger transcription factor definition: This gene is involved in transcriptional regulation and neuronal development. ||| renal definition: Body organ that filters blood for the secretion of URINE and that regulates ion concentrations. ||| gonadal definition: The gamete-producing glands, OVARY or TESTIS. ||| development definition: None ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| Denys-Drash syndrome definition: A rare congenital syndrome caused by mutations in the WT1 gene. It is characterized by the presence of congenital nephropathy (diffuse mesangial sclerosis), Wilms tumor, and intersex disorders. ||| DDS definition: A sulfone active against a wide range of bacteria but mainly employed for its actions against MYCOBACTERIUM LEPRAE. Its mechanism of action is probably similar to that of the SULFONAMIDES which involves inhibition of folic acid synthesis in susceptible organisms. It is also used with PYRIMETHAMINE in the treatment of malaria. (From Martindale, The Extra Pharmacopoeia, 30th ed, p157-8) ||| diffuse mesangial sclerosis definition: Nephrotic syndrome within the first three motnhs of life, characterized initially by increased mesangial matrix, with or without hypertrophy and hyperplasia of podocytes, and eventual glomerular sclerosis. ||| DMS definition: A mercaptodicarboxylic acid used as an antidote to heavy metal poisoning because it forms strong chelates with them. ||| associated with definition: Joined in some kind of relationship. ||| pseudohermaphroditism definition: An historical term for a variety of abnormalities in sex development that lead to anomalies in the reproductive tract and/or external genitalia. ||| Wilms tumor definition: An embryonal neoplasm characterized by the presence of epithelial, mesenchymal, and blastema components. The vast majority of cases arise from the kidney. A small number of cases with morphologic features resembling Wilms tumor of the kidney have been reported arising from the ovary and the cervix. ||| WT definition: The naturally-occurring, normal, non-mutated version of a gene or genome. ||| Output:

Constitutional mutations of the WT1 gene, encoding a zinc-finger transcription factor involved in renal and gonadal development, are found in most patients with @@Denys-Drash syndrome## (@@DDS##), or @@diffuse mesangial sclerosis## (@@DMS##) associated with @@pseudohermaphroditism## and/or @@Wilms tumor## (@@WT##).

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Most mutations in DDS patients lie in exon 8 or exon 9, encoding zinc finger 2 or zinc finger 3, respectively, with a hot spot (R394W) in exon 9. Useful knowledge : ||| mutations definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| DDS definition: A sulfone active against a wide range of bacteria but mainly employed for its actions against MYCOBACTERIUM LEPRAE. Its mechanism of action is probably similar to that of the SULFONAMIDES which involves inhibition of folic acid synthesis in susceptible organisms. It is also used with PYRIMETHAMINE in the treatment of malaria. (From Martindale, The Extra Pharmacopoeia, 30th ed, p157-8) ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| exon 8 definition: The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA. ||| exon 9 definition: The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA. ||| encoding definition: None ||| zinc finger 2 definition: Motifs in DNA- and RNA-binding proteins whose amino acids are folded into a single structural unit around a zinc atom. In the classic zinc finger, one zinc atom is bound to two cysteines and two histidines. In between the cysteines and histidines are 12 residues which form a DNA binding fingertip. By variations in the composition of the sequences in the fingertip and the number and spacing of tandem repeats of the motif, zinc fingers can form a large number of different sequence specific binding sites. ||| zinc finger 3 definition: Motifs in DNA- and RNA-binding proteins whose amino acids are folded into a single structural unit around a zinc atom. In the classic zinc finger, one zinc atom is bound to two cysteines and two histidines. In between the cysteines and histidines are 12 residues which form a DNA binding fingertip. By variations in the composition of the sequences in the fingertip and the number and spacing of tandem repeats of the motif, zinc fingers can form a large number of different sequence specific binding sites. ||| hot spot definition: None ||| exon 9 definition: The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA. ||| Output:

Most mutations in @@DDS## patients lie in exon 8 or exon 9, encoding zinc finger 2 or zinc finger 3, respectively, with a hot spot (R394W) in exon 9.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: We analyzed a series of 24 patients, 10 with isolated DMS (IDMS), 10 with DDS, and 4 with urogenital abnormalities and/or WT. Useful knowledge : ||| analyzed definition: Examination and interpretation; the process of identifying an issue to be understood and addressed, modelling the issue, investigating the model results, interpreting the results, and possibly making a recommendation. The concept also refers to the examination and study of a whole in terms of the parts composing it. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| isolated definition: A state of separation; the act of isolating something; setting something apart from others; marked by separation of or from usually contiguous elements. ||| DDS definition: A sulfone active against a wide range of bacteria but mainly employed for its actions against MYCOBACTERIUM LEPRAE. Its mechanism of action is probably similar to that of the SULFONAMIDES which involves inhibition of folic acid synthesis in susceptible organisms. It is also used with PYRIMETHAMINE in the treatment of malaria. (From Martindale, The Extra Pharmacopoeia, 30th ed, p157-8) ||| urogenital abnormalities definition: Congenital structural abnormalities of the UROGENITAL SYSTEM in either the male or the female. ||| WT definition: The naturally-occurring, normal, non-mutated version of a gene or genome. ||| Output:

We analyzed a series of 24 patients, 10 with @@isolated DMS## (@@IDMS##), 10 with @@DDS##, and 4 with @@urogenital abnormalities## and/or @@WT##.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: We report WT1 heterozygous mutations in 16 patients, 4 of whom presented with IDMS. Useful knowledge : ||| WT1 definition: An embryonal neoplasm characterized by the presence of epithelial, mesenchymal, and blastema components. The vast majority of cases arise from the kidney. A small number of cases with morphologic features resembling Wilms tumor of the kidney have been reported arising from the ovary and the cervix. ||| heterozygous mutations definition: An individual having different alleles at one or more loci regarding a specific character. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| Output:

We report WT1 heterozygous mutations in 16 patients, 4 of whom presented with @@IDMS##.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: One male and two female IDMS patients with WT1 mutations underwent normal puberty. Useful knowledge : ||| male definition: A person who belongs to the sex that normally produces sperm. The term is used to indicate biological sex distinctions, cultural gender role distinctions, or both. ||| female definition: Human females as cultural, psychological, sociological, political, and economic entities. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| WT1 mutations definition: A change in the nucleotide sequence of the WT1 gene. ||| normal puberty definition: None ||| Output:

One male and two female @@IDMS## patients with WT1 mutations underwent normal puberty.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Two mutations associated with IDMS are different from those described in DDS patients. Useful knowledge : ||| mutations definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| associated with definition: Joined in some kind of relationship. ||| DDS definition: A sulfone active against a wide range of bacteria but mainly employed for its actions against MYCOBACTERIUM LEPRAE. Its mechanism of action is probably similar to that of the SULFONAMIDES which involves inhibition of folic acid synthesis in susceptible organisms. It is also used with PYRIMETHAMINE in the treatment of malaria. (From Martindale, The Extra Pharmacopoeia, 30th ed, p157-8) ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| Output:

Two mutations associated with @@IDMS## are different from those described in @@DDS## patients.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: No WT1 mutations were detected in the six other IDMS patients, suggesting genetic heterogeneity of this disease. Useful knowledge : ||| WT1 definition: An embryonal neoplasm characterized by the presence of epithelial, mesenchymal, and blastema components. The vast majority of cases arise from the kidney. A small number of cases with morphologic features resembling Wilms tumor of the kidney have been reported arising from the ovary and the cervix. ||| mutations definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| detected definition: <p>The measurement of the specified component / analyte, organism or clinical sign above the limit of detection of the performed test or procedure.</p> ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| genetic heterogeneity definition: The presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including ALZHEIMER DISEASE; CYSTIC FIBROSIS; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; and POLYCYSTIC KIDNEY DISEASES. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992) ||| disease definition: A definite pathologic process with a characteristic set of signs and symptoms. It may affect the whole body or any of its parts, and its etiology, pathology, and prognosis may be known or unknown. ||| Output:

No WT1 mutations were detected in the six other @@IDMS## patients, suggesting genetic heterogeneity of this disease.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: We analyzed genotype/phenotype correlations, on the basis of the constitution of a WT1 mutation database of 84 germ-line mutations, to compare the distribution and type of mutations, according to the different symptoms. Useful knowledge : ||| analyzed definition: Examination and interpretation; the process of identifying an issue to be understood and addressed, modelling the issue, investigating the model results, interpreting the results, and possibly making a recommendation. The concept also refers to the examination and study of a whole in terms of the parts composing it. ||| genotype/phenotype definition: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS. ||| correlations definition: The degree to which two or more quantities or events are linearly associated, a statistical relation between two or more variables such that systematic changes in the value of one variable are accompanied by systematic changes in the others. ||| constitution definition: None ||| WT1 definition: An embryonal neoplasm characterized by the presence of epithelial, mesenchymal, and blastema components. The vast majority of cases arise from the kidney. A small number of cases with morphologic features resembling Wilms tumor of the kidney have been reported arising from the ovary and the cervix. ||| database definition: An information set with a regular structure. Although it can be applied to any set of information the term was invented to refer to computerized data, and is used almost exclusively in computing. ||| germ-line mutations definition: Any detectable and heritable alteration in the lineage of germ cells. Mutations in these cells (i.e., "generative" cells ancestral to the gametes) are transmitted to progeny while those in somatic cells are not. ||| compare definition: The examination of two or more people or things in order to detect similarities and differences. ||| distribution definition: The placement, arrangement of instance of entities within a space. ||| type definition: Something distinguishable as an identifiable class based on common qualities. ||| mutations definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| symptoms definition: None ||| Output:

We analyzed genotype/phenotype correlations, on the basis of the constitution of a WT1 mutation database of 84 germ-line mutations, to compare the distribution and type of mutations, according to the different symptoms.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: This demonstrated (1) the association between mutations in exons 8 and 9 and DMS; (2) among patients with DMS, a higher frequency of exon 8 mutations among 46, XY patients with female phenotype than among 46, XY patients with sexual ambiguity or male phenotype; and (3) statistically significant evidence that mutations in exons 8 and 9 preferentially affect amino acids with different functions.. Useful knowledge : ||| association definition: A functional relationship between psychological phenomena of such nature that the presence of one tends to evoke the other; also, the process by which such a relationship is established. ||| mutations definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| exons definition: The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA. ||| DMS definition: A mercaptodicarboxylic acid used as an antidote to heavy metal poisoning because it forms strong chelates with them. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| DMS definition: A mercaptodicarboxylic acid used as an antidote to heavy metal poisoning because it forms strong chelates with them. ||| frequency definition: None ||| exon 8 mutations definition: A change in the nucleotide sequence of an exon in a gene. ||| XY definition: The normal genotype of a male human. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| female definition: Human females as cultural, psychological, sociological, political, and economic entities. ||| phenotype definition: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. ||| XY definition: The normal genotype of a male human. ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| sexual ambiguity definition: None ||| male definition: A person who belongs to the sex that normally produces sperm. The term is used to indicate biological sex distinctions, cultural gender role distinctions, or both. ||| phenotype definition: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. ||| statistically significant definition: In statistics, a number that expresses the probability that the result of a given experiment or study could have occurred purely by chance. This number can be a margin of error or it can indicate a confidence level. ||| evidence definition: Knowledge on which to base belief. ||| mutations definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| exons definition: The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA. ||| amino acids definition: Organic compounds that generally contain an amino (-NH2) and a carboxyl (-COOH) group. Twenty alpha-amino acids are the subunits which are polymerized to form proteins. ||| functions definition: The normal action performed by a structure or device. ||| Output:

This demonstrated (1) the association between mutations in exons 8 and 9 and @@DMS##; (2) among patients with @@DMS##, a higher frequency of exon 8 mutations among 46, XY patients with female phenotype than among 46, XY patients with sexual ambiguity or male phenotype; and (3) statistically significant evidence that mutations in exons 8 and 9 preferentially affect amino acids with different functions..

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Paternal transmission of congenital myotonic dystrophy. Useful knowledge : ||| Paternal transmission definition: The transmission of infectious disease or pathogens from one generation to another. It includes transmission in utero or intrapartum by exposure to blood and secretions, and postpartum exposure via breastfeeding. ||| congenital myotonic dystrophy definition: Myotonic dystrophy that is present at birth. ||| Output:

Paternal transmission of @@congenital myotonic dystrophy##.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: We report a rare case of paternally transmitted congenital myotonic dystrophy (DM). Useful knowledge : ||| case definition: None ||| paternally transmitted definition: The transmission of infectious disease or pathogens. When transmission is within the same species, the mode can be horizontal or vertical (INFECTIOUS DISEASE TRANSMISSION, VERTICAL). ||| congenital myotonic dystrophy definition: Myotonic dystrophy that is present at birth. ||| DM definition: An anti-inflammatory 9-fluoro-glucocorticoid. ||| Output:

We report a rare case of paternally transmitted @@congenital myotonic dystrophy## (@@DM##).

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: The proband is a 23 year old, mentally retarded male who suffers severe muscular weakness. Useful knowledge : ||| proband definition: None ||| year definition: A period of time that it takes for Earth to make a complete revolution around the sun, approximately 365 days; a specific one year period. ||| mentally definition: Persons with psychiatric illnesses or diseases, particularly psychotic and severe mood disorders. ||| male definition: A person who belongs to the sex that normally produces sperm. The term is used to indicate biological sex distinctions, cultural gender role distinctions, or both. ||| severe definition: Intensely bad or unpleasant in degree, quality or extent. ||| muscular weakness definition: A vague complaint of debility, fatigue, or exhaustion attributable to weakness of various muscles. The weakness can be characterized as subacute or chronic, often progressive, and is a manifestation of many muscle and neuromuscular diseases. (From Wyngaarden et al., Cecil Textbook of Medicine, 19th ed, p2251) ||| Output:

The proband is a 23 year old, @@mentally retarded## male who suffers severe @@muscular weakness##.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: He presented with respiratory and feeding difficulties at birth. Useful knowledge : ||| respiratory definition: The rate of breathing (inhalation and exhalation) measured within in a unit time, usually expressed as breaths per minute. ||| feeding difficulties definition: Interruption or disruption of the intake of food/nutrition. ||| birth definition: The process of giving birth to one or more offspring. ||| Output:

He presented with respiratory and feeding difficulties at birth.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: His two sibs suffer from childhood onset DM. Useful knowledge : ||| childhood onset definition: Onset of disease at the age of between 1 and 5 years. [DDD:hfirth] ||| DM definition: An anti-inflammatory 9-fluoro-glucocorticoid. ||| Output:

His two sibs suffer from childhood onset @@DM##.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Their late father had the adult type of DM, with onset around 30 years. Useful knowledge : ||| father definition: Male parents, human or animal. ||| adult definition: A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. ||| type definition: Something distinguishable as an identifiable class based on common qualities. ||| DM definition: An anti-inflammatory 9-fluoro-glucocorticoid. ||| years definition: A period of time that it takes for Earth to make a complete revolution around the sun, approximately 365 days; a specific one year period. ||| Output:

Their late father had the adult type of @@DM##, with onset around 30 years.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Only six other cases of paternal transmission of congenital DM have been reported recently. Useful knowledge : ||| cases definition: None ||| paternal transmission definition: The transmission of infectious disease or pathogens from one generation to another. It includes transmission in utero or intrapartum by exposure to blood and secretions, and postpartum exposure via breastfeeding. ||| congenital DM definition: Used with disease headings to indicate those conditions existing at, and usually before, birth. It excludes morphologic abnormalities and birth injuries, for which "abnormalities" and "injuries" are used. ||| Output:

Only six other cases of paternal transmission of @@congenital DM## have been reported recently.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: We review the sex related effects on transmission of congenital DM. Useful knowledge : ||| review definition: An article or book published after examination of published material on a subject. It may be comprehensive to various degrees and the time range of material scrutinized may be broad or narrow, but the reviews most often desired are reviews of the current literature. The textual material examined may be equally broad and can encompass, in medicine specifically, clinical material as well as experimental research or case reports. State-of-the-art reviews tend to address more current matters. A review of the literature must be differentiated from HISTORICAL ARTICLE on the same subject, but a review of historical literature is also within the scope of this publication type. ||| sex definition: The sexual union of a male and a female, a term used for human only. ||| effects definition: A phenomenon that follows and is caused by some previous phenomenon. ||| transmission definition: Used with diseases for studies of the modes of transmission. ||| congenital DM definition: Used with disease headings to indicate those conditions existing at, and usually before, birth. It excludes morphologic abnormalities and birth injuries, for which "abnormalities" and "injuries" are used. ||| Output:

We review the sex related effects on transmission of @@congenital DM##.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Decreased fertility of males with adult onset DM and contraction of the repeat upon male transmission contribute to the almost absent occurrence of paternal transmission of congenital DM. Useful knowledge : ||| Decreased definition: A subjective response indicating that something is or has decreased. ||| fertility definition: The capacity to conceive or to induce conception. It may refer to either the male or female. ||| males definition: A person who belongs to the sex that normally produces sperm. The term is used to indicate biological sex distinctions, cultural gender role distinctions, or both. ||| adult definition: A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. ||| DM definition: An anti-inflammatory 9-fluoro-glucocorticoid. ||| contraction definition: None ||| male transmission definition: Used with diseases for studies of the modes of transmission. ||| absent definition: Not existing in a specified place at a specified time. ||| occurrence definition: None ||| paternal transmission definition: The transmission of infectious disease or pathogens from one generation to another. It includes transmission in utero or intrapartum by exposure to blood and secretions, and postpartum exposure via breastfeeding. ||| congenital DM definition: Used with disease headings to indicate those conditions existing at, and usually before, birth. It excludes morphologic abnormalities and birth injuries, for which "abnormalities" and "injuries" are used. ||| Output:

Decreased fertility of males with adult onset @@DM## and contraction of the repeat upon male transmission contribute to the almost absent occurrence of paternal transmission of @@congenital DM##.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Also the fathers of the reported congenitally affected children showed, on average, shorter CTG repeat lengths and hence less severe clinical symptoms than the mothers of children with congenital DM. Useful knowledge : ||| fathers definition: Male parents, human or animal. ||| congenitally definition: Used with disease headings to indicate those conditions existing at, and usually before, birth. It excludes morphologic abnormalities and birth injuries, for which "abnormalities" and "injuries" are used. ||| affected definition: To be influenced by or changed. ||| children definition: A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. ||| average definition: A statistical calculation describing the central tendency of a set of numbers; used to interpret quantitative data. ||| shorter definition: Having little (physical) length or seeming to be limited in (temporal) duration. ||| CTG definition: This gene plays a role in cell motility. ||| lengths definition: The linear extent in space from one end of something to the other end, or the extent of something from beginning to end. ||| severe definition: Intensely bad or unpleasant in degree, quality or extent. ||| clinical symptoms definition: Subjective evidence of disease perceived by the patient. ||| mothers definition: Female parents, human or animal. ||| children definition: A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. ||| congenital DM definition: Used with disease headings to indicate those conditions existing at, and usually before, birth. It excludes morphologic abnormalities and birth injuries, for which "abnormalities" and "injuries" are used. ||| Output:

Also the fathers of the reported congenitally affected children showed, on average, shorter CTG repeat lengths and hence less severe clinical symptoms than the mothers of children with @@congenital DM##.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: We conclude that paternal transmission of congenital DM is rare and preferentially occurs with onset of DM past 30 years in the father.. Useful knowledge : ||| paternal transmission definition: The transmission of infectious disease or pathogens from one generation to another. It includes transmission in utero or intrapartum by exposure to blood and secretions, and postpartum exposure via breastfeeding. ||| congenital DM definition: Used with disease headings to indicate those conditions existing at, and usually before, birth. It excludes morphologic abnormalities and birth injuries, for which "abnormalities" and "injuries" are used. ||| rare definition: Not occurring regularly or at short intervals. ||| DM definition: An anti-inflammatory 9-fluoro-glucocorticoid. ||| years definition: A period of time that it takes for Earth to make a complete revolution around the sun, approximately 365 days; a specific one year period. ||| father definition: Male parents, human or animal. ||| Output:

We conclude that paternal transmission of @@congenital DM## is rare and preferentially occurs with onset of @@DM## past 30 years in the father..

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Genomic organization of the UBE3A/E6-AP gene and related pseudogenes. Useful knowledge : ||| Genomic organization definition: The structural elements that comprise a gene or transcription unit. Gene structures include the transcription initiation site, the protein coding sequences, intervening sequences, and the transcription termination or polyadenylation sites as well as the regulatory elements (enhancers, silencers, and the promoter) that lie outside the boundaries of the transcribed unit. ||| pseudogenes definition: Genes bearing close resemblance to known genes at different loci, but rendered non-functional by additions or deletions in structure that prevent normal transcription or translation. When lacking introns and containing a poly-A segment near the downstream end (as a result of reverse copying from processed nuclear RNA into double-stranded DNA), they are called processed genes. ||| Output:

Genomic organization of the UBE3A/E6-AP gene and related pseudogenes.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: The UBE3A gene encodes the E6-AP ubiquitin-protein ligase and has recently been shown to be mutated in Angelman syndrome patients who lack 15q11-q13 deletions or chromosome 15 paternal uniparental disomy. Useful knowledge : ||| UBE3A gene definition: This gene is involved in protein turnover. ||| E6-AP ubiquitin-protein ligase definition: A diverse class of enzymes that interact with UBIQUITIN-CONJUGATING ENZYMES and ubiquitination-specific protein substrates. Each member of this enzyme group has its own distinct specificity for a substrate and ubiquitin-conjugating enzyme. Ubiquitin-protein ligases exist as both monomeric proteins multiprotein complexes. ||| mutated definition: Any transmissible change in the genetic material of an organism, which can result from radiation, viral infection, transposition, treatment with mutagenic chemicals and errors during DNA replication or meiosis. The effects of mutation range from single base changes to loss or gain of complete chromosomes. As many of the simpler alterations to DNA may be repaired, such changes are only heritable once the change is fixed in the DNA by the process of replication. Mutations may be associated with genetic diversity or with pathologies including cancer. ||| Angelman syndrome definition: A syndrome characterized by multiple abnormalities, MENTAL RETARDATION, and movement disorders. Present usually are skull and other abnormalities, frequent infantile spasms (SPASMS, INFANTILE); easily provoked and prolonged paroxysms of laughter (hence "happy"); jerky puppetlike movements (hence "puppet"); continuous tongue protrusion; motor retardation; ATAXIA; MUSCLE HYPOTONIA; and a peculiar facies. It is associated with maternal deletions of chromosome 15q11-13 and other genetic abnormalities. (From Am J Med Genet 1998 Dec 4;80(4):385-90; Hum Mol Genet 1999 Jan;8(1):129-35) ||| patients definition: Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ||| 15q11-q13 deletions definition: A chromosome band present on 15q. ||| chromosome 15 definition: A specific pair of GROUP D CHROMOSOMES of the human chromosome classification. ||| paternal definition: None ||| uniparental disomy definition: A condition characterized by the inheritance of a chromosome pair from one parent and no chromosomal copies from the other parent. It results in developmental abnormalities or rare recessive disorders. Examples of uniparental disomy include the Prader-Willi syndrome and Angelman syndrome. ||| Output:

The UBE3A gene encodes the E6-AP ubiquitin-protein ligase and has recently been shown to be mutated in @@Angelman syndrome## patients who lack 15q11-q13 deletions or chromosome 15 paternal @@uniparental disomy##.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Previous UBE3A cDNA analysis has shown a coding region of approximately 2. Useful knowledge : ||| UBE3A definition: This gene is involved in protein turnover. ||| cDNA analysis definition: Single-stranded complementary DNA synthesized from an RNA template by the action of RNA-dependent DNA polymerase. cDNA (i.e., complementary DNA, not circular DNA, not C-DNA) is used in a variety of molecular cloning experiments as well as serving as a specific hybridization probe. ||| coding region definition: A sequence of successive nucleotide triplets that are read as CODONS specifying AMINO ACIDS and begin with an INITIATOR CODON and end with a stop codon (CODON, TERMINATOR). ||| Output:

Previous UBE3A cDNA analysis has shown a coding region of approximately 2.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: 6 kb and a 3-untranslated region (UTR) of < 50 bp, whereas Northern analysis has indicated mRNA sizes of 5-8 kb. Useful knowledge : ||| 3-untranslated region definition: The parts of the messenger RNA sequence that do not code for product, i.e. the 5' UNTRANSLATED REGIONS and 3' UNTRANSLATED REGIONS. ||| UTR definition: None ||| Northern analysis definition: Detection of RNA that has been electrophoretically separated and immobilized by blotting on nitrocellulose or other type of paper or nylon membrane followed by hybridization with labeled NUCLEIC ACID PROBES. ||| Output:

6 kb and a 3-untranslated region (UTR) of < 50 bp, whereas Northern analysis has indicated mRNA sizes of 5-8 kb.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: We have analyzed additional cDNA clones and provide evidence for an additional 0. Useful knowledge : ||| analyzed definition: Examination and interpretation; the process of identifying an issue to be understood and addressed, modelling the issue, investigating the model results, interpreting the results, and possibly making a recommendation. The concept also refers to the examination and study of a whole in terms of the parts composing it. ||| cDNA clones definition: Single-stranded complementary DNA synthesized from an RNA template by the action of RNA-dependent DNA polymerase. cDNA (i.e., complementary DNA, not circular DNA, not C-DNA) is used in a variety of molecular cloning experiments as well as serving as a specific hybridization probe. ||| evidence definition: Knowledge on which to base belief. ||| Output:

We have analyzed additional cDNA clones and provide evidence for an additional 0.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: 5 kb of 5-UTR and > 2 kb of 3-UTR. Useful knowledge : ||| Output:

5 kb of 5-UTR and > 2 kb of 3-UTR.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: We have established the genomic organization of UBE3A and the sequence of intron-exon borders. Useful knowledge : ||| genomic organization definition: The structural elements that comprise a gene or transcription unit. Gene structures include the transcription initiation site, the protein coding sequences, intervening sequences, and the transcription termination or polyadenylation sites as well as the regulatory elements (enhancers, silencers, and the promoter) that lie outside the boundaries of the transcribed unit. ||| UBE3A definition: This gene is involved in protein turnover. ||| sequence definition: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence. ||| Output:

We have established the genomic organization of UBE3A and the sequence of intron-exon borders.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: We have also mapped two highly homologous processed pseudogenes, UBE3AP1 and UBE3AP2, to chromosomes 2 and 21, respectively, and determined their genomic organization. Useful knowledge : ||| mapped definition: The process of connecting an item or symbol to a code or concept. ||| pseudogenes definition: Genes bearing close resemblance to known genes at different loci, but rendered non-functional by additions or deletions in structure that prevent normal transcription or translation. When lacking introns and containing a poly-A segment near the downstream end (as a result of reverse copying from processed nuclear RNA into double-stranded DNA), they are called processed genes. ||| UBE3AP1 definition: None ||| UBE3AP2 definition: None ||| chromosomes 2 definition: A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification. ||| genomic organization definition: The structural elements that comprise a gene or transcription unit. Gene structures include the transcription initiation site, the protein coding sequences, intervening sequences, and the transcription termination or polyadenylation sites as well as the regulatory elements (enhancers, silencers, and the promoter) that lie outside the boundaries of the transcribed unit. ||| Output:

We have also mapped two highly homologous processed pseudogenes, UBE3AP1 and UBE3AP2, to chromosomes 2 and 21, respectively, and determined their genomic organization.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: These results will form the basis for studies of mutation and imprinting of UBE3A. Useful knowledge : ||| results definition: The result of a laboratory, radiologic, or other clinical test performed to determine the presence, absence, or degree of a condition. ||| studies definition: None ||| mutation definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| imprinting definition: A particular kind of learning characterized by occurrence in very early life, rapidity of acquisition, and relative insusceptibility to forgetting or extinction. Imprinted behavior includes most (or all) behavior commonly called instinctive, but imprinting is used purely descriptively. ||| UBE3A definition: This gene is involved in protein turnover. ||| Output:

These results will form the basis for studies of mutation and imprinting of UBE3A.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Distribution of emerin and lamins in the heart and implications for Emery-Dreifuss muscular dystrophy. Useful knowledge : ||| Distribution definition: The placement, arrangement of instance of entities within a space. ||| emerin definition: None ||| lamins definition: Nuclear matrix proteins that are structural components of the NUCLEAR LAMINA. They are found in most multicellular organisms. ||| heart definition: The hollow, muscular organ that maintains the circulation of the blood. ||| Emery-Dreifuss muscular dystrophy definition: A heterogenous group of inherited muscular dystrophy without the involvement of nervous system. The disease is characterized by MUSCULAR ATROPHY; MUSCLE WEAKNESS; CONTRACTURE of the elbows; ACHILLES TENDON; and posterior cervical muscles; with or without cardiac features. There are several INHERITANCE PATTERNS including X-linked (X CHROMOSOME), autosomal dominant (for LMNA-associated type see AUTOSOMAL EMERY-DREIFUSS MUSCULAR DYSTROPHY), and autosomal recessive gene mutations. ||| Output:

Distribution of emerin and lamins in the heart and implications for @@Emery-Dreifuss muscular dystrophy##.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Emerin is a nuclear membrane protein which is missing or defective in Emery-Dreifuss muscular dystrophy (EDMD). Useful knowledge : ||| Emerin definition: None ||| nuclear membrane protein definition: None ||| missing definition: <p>Used by one system to inform another that the container did not arrive at its next expected location.</p> ||| defective definition: None ||| Emery-Dreifuss muscular dystrophy definition: A heterogenous group of inherited muscular dystrophy without the involvement of nervous system. The disease is characterized by MUSCULAR ATROPHY; MUSCLE WEAKNESS; CONTRACTURE of the elbows; ACHILLES TENDON; and posterior cervical muscles; with or without cardiac features. There are several INHERITANCE PATTERNS including X-linked (X CHROMOSOME), autosomal dominant (for LMNA-associated type see AUTOSOMAL EMERY-DREIFUSS MUSCULAR DYSTROPHY), and autosomal recessive gene mutations. ||| EDMD definition: A heterogenous group of inherited muscular dystrophy without the involvement of nervous system. The disease is characterized by MUSCULAR ATROPHY; MUSCLE WEAKNESS; CONTRACTURE of the elbows; ACHILLES TENDON; and posterior cervical muscles; with or without cardiac features. There are several INHERITANCE PATTERNS including X-linked (X CHROMOSOME), autosomal dominant (for LMNA-associated type see AUTOSOMAL EMERY-DREIFUSS MUSCULAR DYSTROPHY), and autosomal recessive gene mutations. ||| Output:

Emerin is a nuclear membrane protein which is missing or defective in @@Emery-Dreifuss muscular dystrophy## (@@EDMD##).

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: It is one member of a family of lamina-associated proteins which includes LAP1, LAP2 and lamin B receptor (LBR). Useful knowledge : ||| family definition: A social group consisting of parents or parent substitutes and children. ||| lamina-associated proteins definition: This gene plays a role in the storage of mRNA. ||| LAP1 definition: This gene plays a role in peptide hydrolysis. ||| LAP2 definition: This gene is involved in signal transduction and protein localization and function. ||| lamin B receptor ( definition: Glycoprotein molecules on the surface of cells that react with or bind to laminin whose function allows the binding of epithelial cells to the basement membrane. The molecular weight of this high-affinity receptor is 67 kD. ||| LBR definition: None ||| Output:

It is one member of a family of lamina-associated proteins which includes LAP1, LAP2 and lamin B receptor (LBR).

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: A panel of 16 monoclonal antibodies (mAbs) has been mapped to six specific sites throughout the emerin molecule using phage-displayed peptide libraries and has been used to localize emerin in human and rabbit heart. Useful knowledge : ||| monoclonal antibodies definition: Antibodies produced by a single clone of cells. ||| mAbs definition: This gene may play a role in RNA splicing and tumor suppression. ||| mapped definition: The process of connecting an item or symbol to a code or concept. ||| sites definition: A position in relation to its surroundings. ||| emerin molecule definition: An aggregate of two or more atoms in a defined arrangement held together by chemical bonds. ||| localize definition: Being confined or restricted to a particular location. [HPO:probinson] ||| emerin definition: None ||| human definition: Members of the species Homo sapiens. ||| rabbit definition: None ||| heart definition: The hollow, muscular organ that maintains the circulation of the blood. ||| Output:

A panel of 16 monoclonal antibodies (mAbs) has been mapped to six specific sites throughout the emerin molecule using phage-displayed peptide libraries and has been used to localize emerin in human and rabbit heart.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Several mAbs against different emerin epitopes did not recognize intercalated discs in the heart, though they recognized cardiomyocyte nuclei strongly, both at the rim and in intranuclear spots or channels. Useful knowledge : ||| mAbs definition: This gene may play a role in RNA splicing and tumor suppression. ||| emerin definition: None ||| epitopes definition: Sites on an antigen that interact with specific antibodies. ||| intercalated discs definition: A complex cell-cell junction at which myofibrils terminate in cardiomyocytes; mediates mechanical and electrochemical integration between individual cardiomyocytes. The intercalated disc contains regions of tight mechanical attachment (fasciae adherentes and desmosomes) and electrical coupling (gap junctions) between adjacent cells. [GOC:mtg_muscle, PMID:11732910] ||| heart definition: The hollow, muscular organ that maintains the circulation of the blood. ||| cardiomyocyte definition: Striated muscle cells found in the heart. They are derived from cardiac myoblasts (MYOBLASTS, CARDIAC). ||| nuclei definition: Within a eukaryotic cell, a membrane-limited body which contains chromosomes and one or more nucleoli (CELL NUCLEOLUS). The nuclear membrane consists of a double unit-type membrane which is perforated by a number of pores; the outermost membrane is continuous with the ENDOPLASMIC RETICULUM. A cell may contain more than one nucleus. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed) ||| rim definition: Retinoblastoma binding protein 8 (897 aa, ~102 kDa) is encoded by the human RBBP8 gene. This protein is involved in cell cycle checkpoint control. ||| channels definition: Gated, ion-selective glycoproteins that traverse membranes. The stimulus for ION CHANNEL GATING can be due to a variety of stimuli such as LIGANDS, a TRANSMEMBRANE POTENTIAL DIFFERENCE, mechanical deformation or through INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS. ||| Output:

Several mAbs against different emerin epitopes did not recognize intercalated discs in the heart, though they recognized cardiomyocyte nuclei strongly, both at the rim and in intranuclear spots or channels.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: A polyclonal rabbit antiserum against emerin did recognize both nuclear membrane and intercalated discs but, after affinity purification against a pure-emerin band on a western blot, it stained only the nuclear membrane. Useful knowledge : ||| polyclonal definition: Having, or deriving from, two or more progenitors. ||| emerin definition: None ||| nuclear membrane definition: The membrane system of the CELL NUCLEUS that surrounds the nucleoplasm. It consists of two concentric membranes separated by the perinuclear space. The structures of the envelope where it opens to the cytoplasm are called the nuclear pores (NUCLEAR PORE). ||| intercalated discs definition: A complex cell-cell junction at which myofibrils terminate in cardiomyocytes; mediates mechanical and electrochemical integration between individual cardiomyocytes. The intercalated disc contains regions of tight mechanical attachment (fasciae adherentes and desmosomes) and electrical coupling (gap junctions) between adjacent cells. [GOC:mtg_muscle, PMID:11732910] ||| affinity purification definition: A chromatographic technique that utilizes the ability of biological molecules, often ANTIBODIES, to bind to certain ligands specifically and reversibly. It is used in protein biochemistry. (McGraw-Hill Dictionary of Scientific and Technical Terms, 4th ed) ||| western blot definition: Identification of proteins or peptides that have been electrophoretically separated by blot transferring from the electrophoresis gel to strips of nitrocellulose paper, followed by labeling with antibody probes. ||| stained definition: Marked or discolored by foreign material. ||| nuclear membrane definition: The membrane system of the CELL NUCLEUS that surrounds the nucleoplasm. It consists of two concentric membranes separated by the perinuclear space. The structures of the envelope where it opens to the cytoplasm are called the nuclear pores (NUCLEAR PORE). ||| Output:

A polyclonal rabbit antiserum against emerin did recognize both nuclear membrane and intercalated discs but, after affinity purification against a pure-emerin band on a western blot, it stained only the nuclear membrane.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: These results would not be expected if immunostaining at intercalated discs were due to a product of the emerin gene and, therefore, cast some doubt upon the hypothesis that cardiac defects in EDMD are caused by absence of emerin from intercalated discs. Useful knowledge : ||| results definition: The result of a laboratory, radiologic, or other clinical test performed to determine the presence, absence, or degree of a condition. ||| intercalated discs definition: A complex cell-cell junction at which myofibrils terminate in cardiomyocytes; mediates mechanical and electrochemical integration between individual cardiomyocytes. The intercalated disc contains regions of tight mechanical attachment (fasciae adherentes and desmosomes) and electrical coupling (gap junctions) between adjacent cells. [GOC:mtg_muscle, PMID:11732910] ||| product definition: The end result of a manufacturing process; anything that is produced. ||| cast definition: None ||| hypothesis definition: None ||| cardiac defects definition: None ||| EDMD definition: A heterogenous group of inherited muscular dystrophy without the involvement of nervous system. The disease is characterized by MUSCULAR ATROPHY; MUSCLE WEAKNESS; CONTRACTURE of the elbows; ACHILLES TENDON; and posterior cervical muscles; with or without cardiac features. There are several INHERITANCE PATTERNS including X-linked (X CHROMOSOME), autosomal dominant (for LMNA-associated type see AUTOSOMAL EMERY-DREIFUSS MUSCULAR DYSTROPHY), and autosomal recessive gene mutations. ||| absence definition: Not existing in a specified place at a specified time. ||| emerin definition: None ||| intercalated discs definition: A complex cell-cell junction at which myofibrils terminate in cardiomyocytes; mediates mechanical and electrochemical integration between individual cardiomyocytes. The intercalated disc contains regions of tight mechanical attachment (fasciae adherentes and desmosomes) and electrical coupling (gap junctions) between adjacent cells. [GOC:mtg_muscle, PMID:11732910] ||| Output:

These results would not be expected if immunostaining at intercalated discs were due to a product of the emerin gene and, therefore, cast some doubt upon the hypothesis that @@cardiac defects## in @@EDMD## are caused by absence of emerin from intercalated discs.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Although emerin was abundant in the membranes of cardiomyocyte nuclei, it was absent from many non-myocyte cells in the heart. Useful knowledge : ||| emerin definition: None ||| abundant definition: Relative degree of plentifulness. ||| membranes definition: Thin layers of tissue which cover parts of the body, separate adjacent cavities, or connect adjacent structures. ||| cardiomyocyte definition: Striated muscle cells found in the heart. They are derived from cardiac myoblasts (MYOBLASTS, CARDIAC). ||| nuclei definition: Within a eukaryotic cell, a membrane-limited body which contains chromosomes and one or more nucleoli (CELL NUCLEOLUS). The nuclear membrane consists of a double unit-type membrane which is perforated by a number of pores; the outermost membrane is continuous with the ENDOPLASMIC RETICULUM. A cell may contain more than one nucleus. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed) ||| absent definition: Not existing in a specified place at a specified time. ||| heart definition: The hollow, muscular organ that maintains the circulation of the blood. ||| Output:

Although emerin was abundant in the membranes of cardiomyocyte nuclei, it was absent from many non-myocyte cells in the heart.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: This distribution of emerin was similar to that of lamin A, a candidate gene for an autosomal form of EDMD. Useful knowledge : ||| distribution definition: The placement, arrangement of instance of entities within a space. ||| emerin definition: None ||| lamin A definition: A subclass of developmentally regulated lamins having a neutral isoelectric point. They are found to disassociate from nuclear membranes during mitosis. ||| autosomal form definition: Any chromosome other than a sex chromosome. [GOC:mah] ||| EDMD definition: A heterogenous group of inherited muscular dystrophy without the involvement of nervous system. The disease is characterized by MUSCULAR ATROPHY; MUSCLE WEAKNESS; CONTRACTURE of the elbows; ACHILLES TENDON; and posterior cervical muscles; with or without cardiac features. There are several INHERITANCE PATTERNS including X-linked (X CHROMOSOME), autosomal dominant (for LMNA-associated type see AUTOSOMAL EMERY-DREIFUSS MUSCULAR DYSTROPHY), and autosomal recessive gene mutations. ||| Output:

This distribution of emerin was similar to that of lamin A, a candidate gene for an autosomal form of @@EDMD##.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: In contrast, lamin B1 was absent from cardiomyocyte nuclei, showing that lamin B1 is not essential for localization of emerin to the nuclear lamina. Useful knowledge : ||| lamin B1 definition: None ||| cardiomyocyte definition: Striated muscle cells found in the heart. They are derived from cardiac myoblasts (MYOBLASTS, CARDIAC). ||| nuclei definition: Within a eukaryotic cell, a membrane-limited body which contains chromosomes and one or more nucleoli (CELL NUCLEOLUS). The nuclear membrane consists of a double unit-type membrane which is perforated by a number of pores; the outermost membrane is continuous with the ENDOPLASMIC RETICULUM. A cell may contain more than one nucleus. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed) ||| lamin B1 definition: None ||| localization definition: The process of determining or marking the location or site of a lesion or disease. ||| emerin definition: None ||| nuclear lamina definition: The fibrous, electron-dense layer lying on the nucleoplasmic side of the inner membrane of a cell nucleus, composed of lamin filaments. The polypeptides of the lamina are thought to be concerned in the dissolution of the nuclear envelope and its re-formation during mitosis. The lamina is composed of lamin A and lamin C filaments cross-linked into an orthogonal lattice, which is attached via lamin B to the inner nuclear membrane through interactions with a lamin B receptor, an IFAP, in the membrane. [ISBN:0198506732, ISBN:0716731363] ||| Output:

In contrast, lamin B1 was absent from cardiomyocyte nuclei, showing that lamin B1 is not essential for localization of emerin to the nuclear lamina.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Lamin B1 is also almost completely absent from skeletal muscle nuclei. Useful knowledge : ||| Lamin B1 definition: None ||| skeletal muscle definition: A subtype of striated muscle, attached by TENDONS to the SKELETON. Skeletal muscles are innervated and their movement can be consciously controlled. They are also called voluntary muscles. ||| nuclei definition: Within a eukaryotic cell, a membrane-limited body which contains chromosomes and one or more nucleoli (CELL NUCLEOLUS). The nuclear membrane consists of a double unit-type membrane which is perforated by a number of pores; the outermost membrane is continuous with the ENDOPLASMIC RETICULUM. A cell may contain more than one nucleus. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed) ||| Output:

Lamin B1 is also almost completely absent from skeletal muscle nuclei.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: In EDMD, the additional absence of lamin B1 from heart and skeletal muscle nuclei which already lack emerin may offer an alternative explanation of why these tissues are particularly affected.. Useful knowledge : ||| EDMD definition: A heterogenous group of inherited muscular dystrophy without the involvement of nervous system. The disease is characterized by MUSCULAR ATROPHY; MUSCLE WEAKNESS; CONTRACTURE of the elbows; ACHILLES TENDON; and posterior cervical muscles; with or without cardiac features. There are several INHERITANCE PATTERNS including X-linked (X CHROMOSOME), autosomal dominant (for LMNA-associated type see AUTOSOMAL EMERY-DREIFUSS MUSCULAR DYSTROPHY), and autosomal recessive gene mutations. ||| absence definition: Not existing in a specified place at a specified time. ||| lamin B1 definition: None ||| heart definition: The hollow, muscular organ that maintains the circulation of the blood. ||| skeletal muscle definition: A subtype of striated muscle, attached by TENDONS to the SKELETON. Skeletal muscles are innervated and their movement can be consciously controlled. They are also called voluntary muscles. ||| nuclei definition: Within a eukaryotic cell, a membrane-limited body which contains chromosomes and one or more nucleoli (CELL NUCLEOLUS). The nuclear membrane consists of a double unit-type membrane which is perforated by a number of pores; the outermost membrane is continuous with the ENDOPLASMIC RETICULUM. A cell may contain more than one nucleus. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed) ||| lack definition: None ||| emerin definition: None ||| tissues definition: Collections of differentiated CELLS, such as EPITHELIUM; CONNECTIVE TISSUE; MUSCLES; and NERVE TISSUE. Tissues are cooperatively arranged to form organs with specialized functions such as RESPIRATION; DIGESTION; REPRODUCTION; MOVEMENT; and others. ||| affected definition: To be influenced by or changed. ||| Output:

In @@EDMD##, the additional absence of lamin B1 from heart and skeletal muscle nuclei which already lack emerin may offer an alternative explanation of why these tissues are particularly affected..

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Localization of human BRCA1 and its loss in high-grade, non-inherited breast carcinomas. Useful knowledge : ||| Localization definition: The process of determining or marking the location or site of a lesion or disease. ||| human definition: Members of the species Homo sapiens. ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear protein that is a component of DNA repair pathways. ||| loss definition: A gradual decline in amount or activity. ||| high-grade definition: A precancerous neoplastic process that affects the cervical squamous epithelium. It is usually associated with human papillomavirus infection. It is classified as cervical squamous intraepithelial neoplasia 2 when there is nuclear atypia in both the upper and lower epithelial layers, mitotic figures are confined to the basal two-thirds of the epithelium, and maturation is present in the upper half of the epithelium. It is classified as cervical squamous intraepithelial neoplasia 3 when there is nuclear atypia and mitotic figures throughout the entire thickness of the epithelium, and maturation is absent or confined to the upper third of the epithelium. ||| Output:

Localization of human BRCA1 and its loss in high-grade, @@non-inherited breast carcinomas##.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Although the link between the BRCA1 tumour-suppressor gene and hereditary breast and ovarian cancer is established, the role, if any, of BRCA1 in non-familial cancers is unclear. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear protein that is a component of DNA repair pathways. ||| tumour-suppressor gene definition: Genes that inhibit expression of the tumorigenic phenotype. They are normally involved in holding cellular growth in check. When tumor suppressor genes are inactivated or lost, a barrier to normal proliferation is removed and unregulated growth is possible. ||| hereditary breast definition: Breast carcinoma that has developed in relatives of patients with history of breast carcinoma. ||| ovarian cancer definition: Tumors or cancer of the OVARY. These neoplasms can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS. ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear protein that is a component of DNA repair pathways. ||| unclear definition: The brother of your father or mother; the husband of your aunt. ||| Output:

Although the link between the BRCA1 @@tumour##-suppressor gene and @@hereditary breast and ovarian cancer## is established, the role, if any, of BRCA1 in @@non-familial cancers## is unclear.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: BRCA1 mutations are rare in sporadic cancers, but loss of BRCA1 resulting from reduced expression or incorrect subcellular localization is postulated to be important in non-familial breast and ovarian cancers. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear protein that is a component of DNA repair pathways. ||| mutations definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. ||| sporadic cancers definition: A carcinoma that arises from the breast and is not caused by inherited genetic mutations. ||| loss definition: A gradual decline in amount or activity. ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear protein that is a component of DNA repair pathways. ||| reduced definition: Made less in size or amount or degree. ||| expression definition: The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION. ||| incorrect definition: Not accurate, correct, or appropriate. ||| subcellular localization definition: A cellular localization process whereby a substance or cellular entity, such as a protein complex or organelle, is transported to, and/or maintained in, a specific location within a cell including the localization of substances or cellular entities to the cell membrane. [GOC:tb, GOC:vw] ||| breast definition: In humans, one of the paired regions in the anterior portion of the THORAX. The breasts consist of the MAMMARY GLANDS, the SKIN, the MUSCLES, the ADIPOSE TISSUE, and the CONNECTIVE TISSUES. ||| ovarian cancers definition: A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas. ||| Output:

BRCA1 mutations are rare in @@sporadic cancers##, but loss of BRCA1 resulting from reduced expression or incorrect subcellular localization is postulated to be important in @@non-familial breast and ovarian cancers##.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Epigenetic loss, however, has not received general acceptance due to controversy regarding the subcellular localization of BRCA1 proteins, reports of which have ranged from exclusively nuclear, to conditionally nuclear, to the ER/golgi, to cytoplasmic invaginations into the nucleus. Useful knowledge : ||| Epigenetic loss definition: study of DNA modifications that persist during cell division but that do not change the DNA sequence itself. ||| acceptance definition: The establishment of viable, functional grafted tissue within the body of a host. ||| subcellular localization definition: A cellular localization process whereby a substance or cellular entity, such as a protein complex or organelle, is transported to, and/or maintained in, a specific location within a cell including the localization of substances or cellular entities to the cell membrane. [GOC:tb, GOC:vw] ||| BRCA1 proteins definition: The phosphoprotein encoded by the BRCA1 gene (GENE, BRCA1). It contains an N-terminal RING FINGER DOMAIN and is a PROTEIN PHOSPHATASE 1 regulatory subunit. In normal cells the BRCA1 protein is localized in the nucleus, whereas in the majority of breast cancer cell lines and in malignant pleural effusions from breast cancer patients, it is localized mainly in the cytoplasm. (Science 1995;270(5237):713,789-91) ||| reports definition: Detailed account or statement or formal record of the proceedings of a meeting or session. May also document status or progress of an activity or research project. ||| nuclear definition: Pertaining to the nucleus. ||| cytoplasmic definition: The part of a cell that contains the CYTOSOL and small structures excluding the CELL NUCLEUS; MITOCHONDRIA; and large VACUOLES. (Glick, Glossary of Biochemistry and Molecular Biology, 1990) ||| invaginations definition: None ||| nucleus definition: Within a eukaryotic cell, a membrane-limited body which contains chromosomes and one or more nucleoli (CELL NUCLEOLUS). The nuclear membrane consists of a double unit-type membrane which is perforated by a number of pores; the outermost membrane is continuous with the ENDOPLASMIC RETICULUM. A cell may contain more than one nucleus. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed) ||| Output:

Epigenetic loss, however, has not received general acceptance due to controversy regarding the subcellular localization of BRCA1 proteins, reports of which have ranged from exclusively nuclear, to conditionally nuclear, to the ER/golgi, to cytoplasmic invaginations into the nucleus.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: In an attempt to resolve this issue, we have comprehensively characterized 19 anti-BRCA1 antibodies. Useful knowledge : ||| issue definition: A difficulty, disorder, or condition needing resolution. ||| characterized definition: The act of describing distinctive characteristics or essential features. ||| Output:

In an attempt to resolve this issue, we have comprehensively characterized 19 anti-BRCA1 antibodies.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: These reagents detect a 220-kD protein localized in discrete nuclear foci in all epithelial cell lines, including those derived from breast malignancies. Useful knowledge : ||| reagents definition: Any natural or synthetic substance used in a chemical or biological reaction in order to produce, identify, or measure another substance. ||| detect definition: <p>The measurement of the specified component / analyte, organism or clinical sign above the limit of detection of the performed test or procedure.</p> ||| 220-kD protein definition: This gene is involved in transcriptional repression and regulation of splicing. ||| localized definition: Being confined or restricted to a particular location. [HPO:probinson] ||| nuclear foci definition: Pertaining to the nucleus. ||| epithelial cell lines definition: Cells that line the inner and outer surfaces of the body by forming cellular layers (EPITHELIUM) or masses. Epithelial cells lining the SKIN; the MOUTH; the NOSE; and the ANAL CANAL derive from ectoderm; those lining the RESPIRATORY SYSTEM and the DIGESTIVE SYSTEM derive from endoderm; others (CARDIOVASCULAR SYSTEM and LYMPHATIC SYSTEM) derive from mesoderm. Epithelial cells can be classified mainly by cell shape and function into squamous, glandular and transitional epithelial cells. ||| breast malignancies definition: A tumor composed of atypical neoplastic, often pleomorphic cells that invade other tissues. Malignant neoplasms often metastasize to distant anatomic sites and may recur after excision. The most common malignant neoplasms are carcinomas, Hodgkin and non-Hodgkin lymphomas, leukemias, melanomas, and sarcomas. ||| Output:

These reagents detect a 220-kD protein localized in discrete nuclear foci in all epithelial cell lines, including those derived from @@breast malignancies##.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Immunohistochemical staining of human breast specimens also revealed BRCA1 nuclear foci in benign breast, invasive lobular cancers and low-grade ductal carcinomas. Useful knowledge : ||| Immunohistochemical staining definition: Histochemical localization of immunoreactive substances using labeled antibodies as reagents. ||| human definition: Members of the species Homo sapiens. ||| breast specimens definition: A part of a thing, or of several things, taken to demonstrate or to determine the character of the whole, e.g. a substance, or portion of material obtained for use in testing, examination, or study; particularly, a preparation of tissue or bodily fluid taken for examination or diagnosis. ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear protein that is a component of DNA repair pathways. ||| nuclear foci definition: Pertaining to the nucleus. ||| benign breast definition: A common and benign breast disease characterized by varying degree of fibrocystic changes in the breast tissue. There are three major patterns of morphological changes, including FIBROSIS, formation of CYSTS, and proliferation of glandular tissue (adenosis). The fibrocystic breast has a dense irregular, lumpy, bumpy consistency. ||| invasive definition: Marked by a tendency to spread, especially into healthy surrounding tissue. ||| lobular cancers definition: Of or relating to or resembling a lobule. ||| low-grade definition: A precancerous neoplastic process that affects the cervical squamous epithelium without evidence of invasion. It is usually associated with human papillomavirus infection. It is characterized by the presence of mild atypia in the superficial epithelial layer that may be associated with koilocytosis. Maturation is present in the upper two thirds of the epithelium. Mitotic figures are not numerous and are present in the basal third of the epithelium. ||| ductal carcinomas definition: Malignant neoplasms involving the ductal systems of any of a number of organs, such as the MAMMARY GLANDS, the PANCREAS, the PROSTATE, or the LACRIMAL GLAND. ||| Output:

Immunohistochemical staining of human breast specimens also revealed BRCA1 nuclear foci in benign breast, @@invasive lobular cancers## and @@low-grade ductal carcinomas##.

The task is to label all mentions of diseases in a sentence, by putting them in a specific format. Use the provided knowledge to guide your answer, it provides definitions of terms in the input separated by '|||'. Here are some examples: Input: BRCA1 interacts with components of the histone deacetylase complex. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear pro Output: BRCA1 interacts with components of the histone deacetylase complex. Input: Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Useful knowledge : ||| Mice definition: The common mouse species, Mus musculus. ||| deficient definition: None ||| Six5 definition: This gene is involved in transcription regulation. ||| cataracts definition: Partial or complete opacity on or in the lens or capsule of one or Output: Mice @@deficient in Six5## develop @@cataracts##: implications for @@myotonic dystrophy##. Identify all the mentions of diseases in the following sentence, by putting @@ in front and a ## behind each of them Input: Conversely, BRCA1 expression was reduced or undetectable in the majority of high-grade, ductal carcinomas, suggesting that absence of BRCA1 may contribute to the pathogenesis of a significant percentage of sporadic breast cancers.. Useful knowledge : ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear protein that is a component of DNA repair pathways. ||| expression definition: The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION. ||| reduced definition: Made less in size or amount or degree. ||| undetectable definition: The inability to be noticed, identified or discovered. ||| high-grade definition: A precancerous neoplastic process that affects the cervical squamous epithelium. It is usually associated with human papillomavirus infection. It is classified as cervical squamous intraepithelial neoplasia 2 when there is nuclear atypia in both the upper and lower epithelial layers, mitotic figures are confined to the basal two-thirds of the epithelium, and maturation is present in the upper half of the epithelium. It is classified as cervical squamous intraepithelial neoplasia 3 when there is nuclear atypia and mitotic figures throughout the entire thickness of the epithelium, and maturation is absent or confined to the upper third of the epithelium. ||| ductal carcinomas definition: Malignant neoplasms involving the ductal systems of any of a number of organs, such as the MAMMARY GLANDS, the PANCREAS, the PROSTATE, or the LACRIMAL GLAND. ||| absence definition: Not existing in a specified place at a specified time. ||| BRCA1 definition: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear protein that is a component of DNA repair pathways. ||| pathogenesis definition: OBSOLETE. The set of specific processes that generate the ability of an organism to induce an abnormal, generally detrimental state in another organism. [GOC:go_curators] ||| sporadic definition: None ||| breast cancers definition: A primary or metastatic malignant neoplasm involving the breast. The vast majority of cases are carcinomas arising from the breast parenchyma or the nipple. Malignant breast neoplasms occur more frequently in females than in males. ||| Output:

Conversely, BRCA1 expression was reduced or undetectable in the majority of high-grade, @@ductal carcinomas##, suggesting that absence of BRCA1 may contribute to the pathogenesis of a significant percentage of @@sporadic breast cancers##..