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In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: A correlation was observed between the presence / absence of a PTEN mutation and the type of breast involvement ( unaffected versus benign versus malignant ) .
### Output Text: | A correlation was observed between the presence / absence of a PTEN mutation and the type of breast involvement ( unaffected versus benign versus malignant ) . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Specifically and more directly , an association was also observed between the presence of a PTEN mutation and malignant breast disease .
### Output Text: | Specifically and more directly , an association was also observed between the presence of a PTEN mutation and <span class="disease">malignant breast disease</span> . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Secondly , there appeared to be an interdependent association between mutations upstream and within the PTPase core motif , the core motif containing the majority of missense mutations , and the involvement of all major organ systems ( central nervous system , thyroid , breast , skin and gastrointestinal tract ) .
### Output Text: | Secondly , there appeared to be an interdependent association between mutations upstream and within the PTPase core motif , the core motif containing the majority of missense mutations , and the involvement of all major organ systems ( central nervous system , thyroid , breast , skin and gastrointestinal tract ) . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: However , these observations would need to be confirmed by studying a larger number of CD families .
### Output Text: | However , these observations would need to be confirmed by studying a larger number of <span class="disease">CD</span> families . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Molecular defects leading to human complement component C6 deficiency in an African - American family .
### Output Text: | Molecular defects leading to human <span class="disease">complement component C6 deficiency</span> in an African - American family . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Complement component C6 deficiency ( C6D ) was diagnosed in a 16 - year - old African - American male with meningococcal meningitis .
### Output Text: | <span class="disease">Complement component C6 deficiency</span> ( <span class="disease">C6D</span> ) was diagnosed in a 16 - year - old African - American male with <span class="disease">meningococcal meningitis</span> . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: The patients father and two brothers also had C6D , but gave no history of meningitis or other neisserial infection .
### Output Text: | The patients father and two brothers also had <span class="disease">C6D</span> , but gave no history of <span class="disease">meningitis</span> or other <span class="disease">neisserial infection</span> . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: By using exon - specific polymerase chain reaction ( PCR ) / single - strand conformation polymorphism as a screening step and nucleotide sequencing of target exons , we determined that the proband was a compound heterozygote for two C6 gene mutations .
### Output Text: | By using exon - specific polymerase chain reaction ( PCR ) / single - strand conformation polymorphism as a screening step and nucleotide sequencing of target exons , we determined that the proband was a compound heterozygote for two C6 gene mutations . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: The first , 1195delC located in exon 7 , is a novel mutation , while the second , 1936delG in exon 12 , has been described before to cause C6D in an unrelated African - American individual .
### Output Text: | The first , 1195delC located in exon 7 , is a novel mutation , while the second , 1936delG in exon 12 , has been described before to cause <span class="disease">C6D</span> in an unrelated African - American individual . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Both mutations result in premature termination codons and C6 null alleles .
### Output Text: | Both mutations result in premature termination codons and C6 null alleles . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Allele - specific PCR indicated that the probands two brothers also inherited the 1195delC mutation from their heterozygous mother and the 1936delG mutation from their homozygous father . .
### Output Text: | Allele - specific PCR indicated that the probands two brothers also inherited the 1195delC mutation from their heterozygous mother and the 1936delG mutation from their homozygous father . . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: PAX6 mutations reviewed .
### Output Text: | PAX6 mutations reviewed . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Mutations in PAX6 are responsible for human aniridia and have also been found in patients with Peters anomaly , with congenital cataracts , with autosomal dominant keratitis , and with isolated foveal hypoplasia .
### Output Text: | Mutations in PAX6 are responsible for human <span class="disease">aniridia</span> and have also been found in patients with <span class="disease">Peters anomaly</span> , with <span class="disease">congenital cataracts</span> , with <span class="disease">autosomal dominant keratitis</span> , and with <span class="disease">isolated foveal hypoplasia</span> . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: No locus other than chromosome 11p13 has been implicated in aniridia , and PAX6 is clearly the major , if not only , gene responsible .
### Output Text: | No locus other than chromosome 11p13 has been implicated in <span class="disease">aniridia</span> , and PAX6 is clearly the major , if not only , gene responsible . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Twenty - eight percent of identified PAX6 mutations are C - T changes at CpG dinucleotides , 20 % are splicing errors , and more than 30 % are deletion or insertion events .
### Output Text: | Twenty - eight percent of identified PAX6 mutations are C - T changes at CpG dinucleotides , 20 % are splicing errors , and more than 30 % are deletion or insertion events . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: There is a noticeably elevated level of mutation in the paired domain compared with the rest of the gene .
### Output Text: | There is a noticeably elevated level of mutation in the paired domain compared with the rest of the gene . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Increased mutation in the homeodomain is accounted for by the hypermutable CpG dinucleotide in codon 240 .
### Output Text: | Increased mutation in the homeodomain is accounted for by the hypermutable CpG dinucleotide in codon 240 . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Very nearly all mutations appear to cause loss of function of the mutant allele , and more than 80 % of exonic substitutions result in nonsense codons .
### Output Text: | Very nearly all mutations appear to cause loss of function of the mutant allele , and more than 80 % of exonic substitutions result in nonsense codons . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: In a gene with such extraordinarily high sequence conservation throughout evolution , there are presumed undiscovered missense mutations , these are hypothesized to exist in as - yet unidentified phenotypes . .
### Output Text: | In a gene with such extraordinarily high sequence conservation throughout evolution , there are presumed undiscovered missense mutations , these are hypothesized to exist in as - yet unidentified phenotypes . . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families .
### Output Text: | Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in <span class="disease">breast cancer</span> families . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: The Breast Cancer Linkage Consortium .
### Output Text: | The <span class="disease">Breast Cancer</span> Linkage Consortium . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: The contribution of BRCA1 and BRCA2 to inherited breast cancer was assessed by linkage and mutation analysis in 237 families , each with at least four cases of breast cancer , collected by the Breast Cancer Linkage Consortium .
### Output Text: | The contribution of BRCA1 and BRCA2 to <span class="disease">inherited breast cancer</span> was assessed by linkage and mutation analysis in 237 families , each with at least four cases of <span class="disease">breast cancer</span> , collected by the <span class="disease">Breast Cancer</span> Linkage Consortium . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Families were included without regard to the occurrence of ovarian or other cancers .
### Output Text: | Families were included without regard to the occurrence of <span class="disease">ovarian or other cancers</span> . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Overall , disease was linked to BRCA1 in an estimated 52 % of families , to BRCA2 in 32 % of families , and to neither gene in 16 % ( 95 % confidence interval [ CI ] 6 % - 28 % ) , suggesting other predisposition genes .
### Output Text: | Overall , disease was linked to BRCA1 in an estimated 52 % of families , to BRCA2 in 32 % of families , and to neither gene in 16 % ( 95 % confidence interval [ CI ] 6 % - 28 % ) , suggesting other predisposition genes . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: The majority ( 81 % ) of the breast - ovarian cancer families were due to BRCA1 , with most others ( 14 % ) due to BRCA2 .
### Output Text: | The majority ( 81 % ) of the <span class="disease">breast - ovarian cancer</span> families were due to BRCA1 , with most others ( 14 % ) due to BRCA2 . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Conversely , the majority of families with male and female breast cancer were due to BRCA2 ( 76 % ) .
### Output Text: | Conversely , the majority of families with <span class="disease">male and female breast cancer</span> were due to BRCA2 ( 76 % ) . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: The largest proportion ( 67 % ) of families due to other genes was found in families with four or five cases of female breast cancer only .
### Output Text: | The largest proportion ( 67 % ) of families due to other genes was found in families with four or five cases of female <span class="disease">breast cancer</span> only . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: These estimates were not substantially affected either by changing the assumed penetrance model for BRCA1 or by including or excluding BRCA1 mutation data .
### Output Text: | These estimates were not substantially affected either by changing the assumed penetrance model for BRCA1 or by including or excluding BRCA1 mutation data . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Among those families with disease due to BRCA1 that were tested by one of the standard screening methods , mutations were detected in the coding sequence or splice sites in an estimated 63 % ( 95 % CI 51 % - 77 % ) .
### Output Text: | Among those families with disease due to BRCA1 that were tested by one of the standard screening methods , mutations were detected in the coding sequence or splice sites in an estimated 63 % ( 95 % CI 51 % - 77 % ) . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: The estimated sensitivity was identical for direct sequencing and other techniques .
### Output Text: | The estimated sensitivity was identical for direct sequencing and other techniques . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: The penetrance of BRCA2 was estimated by maximizing the LOD score in BRCA2 - mutation families , over all possible penetrance functions .
### Output Text: | The penetrance of BRCA2 was estimated by maximizing the LOD score in BRCA2 - mutation families , over all possible penetrance functions . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: The estimated cumulative risk of breast cancer reached 28 % ( 95 % CI 9 % - 44 % ) by age 50 years and 84 % ( 95 % CI 43 % - 95 % ) by age 70 years .
### Output Text: | The estimated cumulative risk of <span class="disease">breast cancer</span> reached 28 % ( 95 % CI 9 % - 44 % ) by age 50 years and 84 % ( 95 % CI 43 % - 95 % ) by age 70 years . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: The corresponding ovarian cancer risks were 0 .
### Output Text: | The corresponding <span class="disease">ovarian cancer</span> risks were 0 . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: 4 % ( 95 % CI 0 % - 1 % ) by age 50 years and 27 % ( 95 % CI 0 % - 47 % ) by age 70 years .
### Output Text: | 4 % ( 95 % CI 0 % - 1 % ) by age 50 years and 27 % ( 95 % CI 0 % - 47 % ) by age 70 years . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: The lifetime risk of breast cancer appears similar to the risk in BRCA1 carriers , but there was some suggestion of a lower risk in BRCA2 carriers < 50 years of age .
### Output Text: | The lifetime risk of <span class="disease">breast cancer</span> appears similar to the risk in BRCA1 carriers , but there was some suggestion of a lower risk in BRCA2 carriers < 50 years of age . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Eye movement abnormalities correlate with genotype in autosomal dominant cerebellar ataxia type I .
### Output Text: | <span class="disease">Eye movement abnormalities</span> correlate with genotype in autosomal dominant <span class="disease">cerebellar ataxia type I</span> . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: We compared horizontal eye movements ( visually guided saccades , antisaccades , and smooth pursuit ) in control subjects ( n = 14 ) and patients with three forms of autosomal dominant cerebellar ataxias type I spinocerebellar ataxias 1 and 2 ( SCA1 , n = 11 ; SCA2 , n = 10 ) and SCA3 / Machado - Joseph disease ( MJD ) ( n = 16 ) .
### Output Text: | We compared horizontal eye movements ( visually guided saccades , antisaccades , and smooth pursuit ) in control subjects ( n = 14 ) and patients with three forms of autosomal dominant <span class="disease">cerebellar ataxias type I</span> <span class="disease">spinocerebellar ataxias 1 and 2</span> ( <span class="disease">SCA1</span> , n = 11 ; <span class="disease">SCA2</span> , n = 10 ) and <span class="disease">SCA3</span> / <span class="disease">Machado - Joseph disease</span> ( <span class="disease">MJD</span> ) ( n = 16 ) . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: In SCA1 , saccade amplitude was significantly increased , resulting in hypermetria .
### Output Text: | In <span class="disease">SCA1</span> , saccade amplitude was significantly increased , resulting in <span class="disease">hypermetria</span> . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: The smooth pursuit gain was decreased .
### Output Text: | The smooth pursuit gain was decreased . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: In SCA2 , saccade velocity was markedly decreased .
### Output Text: | In <span class="disease">SCA2</span> , saccade velocity was markedly decreased . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: The percentage of errors in antisaccades was greatly increased and was significantly correlated with age at disease onset .
### Output Text: | The percentage of errors in antisaccades was greatly increased and was significantly correlated with age at disease onset . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: In addition , a correlation between smooth pursuit gain and the number of trinucleotide repeats was found .
### Output Text: | In addition , a correlation between smooth pursuit gain and the number of trinucleotide repeats was found . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: In SCA3 , gaze - evoked nystagmus was often present as was saccade hypometria and smooth pursuit gain was markedly decreased .
### Output Text: | In <span class="disease">SCA3</span> , <span class="disease">gaze - evoked nystagmus</span> was often present as was saccade hypometria and smooth pursuit gain was markedly decreased . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Three major criteria , saccade amplitude , saccade velocity , and presence of gaze - evoked nystagmus , permitted the correct assignment of 90 % of the SCA1 , 90 % of the SCA2 , and 93 % of the patients with SCA3 to their genetically confirmed patient group and , therefore , may help orient diagnoses of SCA1 , SCA2 , and SCA3 at early clinical stages of the diseases . .
### Output Text: | Three major criteria , saccade amplitude , saccade velocity , and presence of <span class="disease">gaze - evoked nystagmus</span> , permitted the correct assignment of 90 % of the <span class="disease">SCA1</span> , 90 % of the <span class="disease">SCA2</span> , and 93 % of the patients with <span class="disease">SCA3</span> to their genetically confirmed patient group and , therefore , may help orient diagnoses of <span class="disease">SCA1</span> , <span class="disease">SCA2</span> , and <span class="disease">SCA3</span> at early clinical stages of the diseases . . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Genetic basis and molecular mechanism for idiopathic ventricular fibrillation .
### Output Text: | Genetic basis and molecular mechanism for <span class="disease">idiopathic ventricular fibrillation</span> . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Ventricular fibrillation causes more than 300 , 000 sudden deaths each year in the USA alone .
### Output Text: | <span class="disease">Ventricular fibrillation</span> causes more than 300 , 000 sudden deaths each year in the USA alone . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: In approximately 5 - 12 % of these cases , there are no demonstrable cardiac or non - cardiac causes to account for the episode , which is therefore classified as idiopathic ventricular fibrillation ( IVF ) .
### Output Text: | In approximately 5 - 12 % of these cases , there are no demonstrable cardiac or non - cardiac causes to account for the episode , which is therefore classified as <span class="disease">idiopathic ventricular fibrillation</span> ( <span class="disease">IVF</span> ) . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: A distinct group of IVF patients has been found to present with a characteristic electrocardiographic pattern .
### Output Text: | A distinct group of <span class="disease">IVF</span> patients has been found to present with a characteristic electrocardiographic pattern . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Because of the small size of most pedigrees and the high incidence of sudden death , however , molecular genetic studies of IVF have not yet been done .
### Output Text: | Because of the small size of most pedigrees and the high incidence of <span class="disease">sudden death</span> , however , molecular genetic studies of <span class="disease">IVF</span> have not yet been done . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Because IVF causes cardiac rhythm disturbance , we investigated whether malfunction of ion channels could cause the disorder by studying mutations in the cardiac sodium channel gene SCN5A .
### Output Text: | Because <span class="disease">IVF</span> causes cardiac rhythm disturbance , we investigated whether malfunction of ion channels could cause the disorder by studying mutations in the cardiac sodium channel gene SCN5A . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: We have now identified a missense mutation , a splice - donor mutation , and a frameshift mutation in the coding region of SCN5A in three IVF families .
### Output Text: | We have now identified a missense mutation , a splice - donor mutation , and a frameshift mutation in the coding region of SCN5A in three <span class="disease">IVF</span> families . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: We show that sodium channels with the missense mutation recover from inactivation more rapidly than normal and that the frameshift mutation causes the sodium channel to be non - functional .
### Output Text: | We show that sodium channels with the missense mutation recover from inactivation more rapidly than normal and that the frameshift mutation causes the sodium channel to be non - functional . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Our results indicate that mutations in cardiac ion - channel genes contribute to the risk of developing IVF . .
### Output Text: | Our results indicate that mutations in cardiac ion - channel genes contribute to the risk of developing <span class="disease">IVF</span> . . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland : nine novel mutations including T312S , a common allele that confers a mild phenotype .
### Output Text: | Molecular heterogeneity in <span class="disease">mucopolysaccharidosis IVA</span> in Australia and Northern Ireland : nine novel mutations including T312S , a common allele that confers a mild phenotype . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Mucopolysaccharidosis IVA ( MPS IVA ) is an autosomal recessive lysosomal storage disorder caused by a genetic defect in N - acetylgalactosamine - 6 - sulfate sulfatase ( GALNS ) .
### Output Text: | <span class="disease">Mucopolysaccharidosis IVA</span> ( <span class="disease">MPS IVA</span> ) is an <span class="disease">autosomal recessive lysosomal storage disorder</span> caused by a <span class="disease">genetic defect</span> in N - acetylgalactosamine - 6 - sulfate sulfatase ( GALNS ) . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Previous studies of patients from a British - Irish population showed that the I113F mutation is the most common single mutation among MPS IVA patients and produces a severe clinical phenotype .
### Output Text: | Previous studies of patients from a British - Irish population showed that the I113F mutation is the most common single mutation among <span class="disease">MPS IVA</span> patients and produces a severe clinical phenotype . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: We studied mutations in the GALNS gene from 23 additional MPS IVA patients ( 15 from Australia , 8 from Northern Ireland ) , with various clinical phenotypes ( severe , 16 cases ; intermediate , 4 cases ; mild , 3 cases ) .
### Output Text: | We studied mutations in the GALNS gene from 23 additional <span class="disease">MPS IVA</span> patients ( 15 from Australia , 8 from Northern Ireland ) , with various clinical phenotypes ( severe , 16 cases ; intermediate , 4 cases ; mild , 3 cases ) . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: We found two common mutations that together accounted for 32 % of the 44 unrelated alleles in these patients .
### Output Text: | We found two common mutations that together accounted for 32 % of the 44 unrelated alleles in these patients . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: One is the T312S mutation , a novel mutation found exclusively in milder patients .
### Output Text: | One is the T312S mutation , a novel mutation found exclusively in milder patients . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: The other is the previously described I113F that produces a severe phenotype .
### Output Text: | The other is the previously described I113F that produces a severe phenotype . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: The I113F and T312S mutations accounted for 8 ( 18 % ) and 6 ( 14 % ) of 44 unrelated alleles , respectively .
### Output Text: | The I113F and T312S mutations accounted for 8 ( 18 % ) and 6 ( 14 % ) of 44 unrelated alleles , respectively . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: The relatively high residual GALNS activity seen when the T312S mutant cDNA is overexpressed in mutant cells provides an explanation for the mild phenotype in patients with this mutation .
### Output Text: | The relatively high residual GALNS activity seen when the T312S mutant cDNA is overexpressed in mutant cells provides an explanation for the mild phenotype in patients with this mutation . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: The distribution and relative frequencies of the I113F and T312S mutations in Australia corresponded to those observed in Northern Ireland and are unique to these two populations , suggesting that both mutations were probably introduced to Australia by Irish migrants during the 19th century .
### Output Text: | The distribution and relative frequencies of the I113F and T312S mutations in Australia corresponded to those observed in Northern Ireland and are unique to these two populations , suggesting that both mutations were probably introduced to Australia by Irish migrants during the 19th century . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Haplotype analysis using 6 RFLPs provides additional data that the I113F mutation originated from a common ancestor .
### Output Text: | Haplotype analysis using 6 RFLPs provides additional data that the I113F mutation originated from a common ancestor . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: The other 9 novel mutations identified in these 23 patients were each limited to a single family .
### Output Text: | The other 9 novel mutations identified in these 23 patients were each limited to a single family . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: These data provide further evidence for extensive allelic heterogeneity in MPS IVA in British - Irish patients and provide evidence for their transmission to Australia by British - Irish migrants . .
### Output Text: | These data provide further evidence for extensive allelic heterogeneity in <span class="disease">MPS IVA</span> in British - Irish patients and provide evidence for their transmission to Australia by British - Irish migrants . . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: 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 .
### Output Text: | Identification of constitutional WT1 mutations , in patients with isolated <span class="disease">diffuse mesangial sclerosis</span> , and analysis of genotype / phenotype correlations by use of a computerized mutation database . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: 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 ) .
### Output Text: | Constitutional mutations of the WT1 gene , encoding a zinc - finger transcription factor involved in renal and gonadal development , are found in most patients with <span class="disease">Denys - Drash syndrome</span> ( <span class="disease">DDS</span> ) , or <span class="disease">diffuse mesangial sclerosis</span> ( <span class="disease">DMS</span> ) associated with <span class="disease">pseudohermaphroditism</span> and / or <span class="disease">Wilms tumor</span> ( <span class="disease">WT</span> ) . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: 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 .
### Output Text: | Most mutations in <span class="disease">DDS</span> 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 . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: We analyzed a series of 24 patients , 10 with isolated DMS ( IDMS ) , 10 with DDS , and 4 with urogenital abnormalities and / or WT .
### Output Text: | We analyzed a series of 24 patients , 10 with <span class="disease">isolated DMS</span> ( <span class="disease">IDMS</span> ) , 10 with <span class="disease">DDS</span> , and 4 with <span class="disease">urogenital abnormalities</span> and / or <span class="disease">WT</span> . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: We report WT1 heterozygous mutations in 16 patients , 4 of whom presented with IDMS .
### Output Text: | We report WT1 heterozygous mutations in 16 patients , 4 of whom presented with <span class="disease">IDMS</span> . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: One male and two female IDMS patients with WT1 mutations underwent normal puberty .
### Output Text: | One male and two female <span class="disease">IDMS</span> patients with WT1 mutations underwent normal puberty . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Two mutations associated with IDMS are different from those described in DDS patients .
### Output Text: | Two mutations associated with <span class="disease">IDMS</span> are different from those described in <span class="disease">DDS</span> patients . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: No WT1 mutations were detected in the six other IDMS patients , suggesting genetic heterogeneity of this disease .
### Output Text: | No WT1 mutations were detected in the six other <span class="disease">IDMS</span> patients , suggesting genetic heterogeneity of this disease . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: 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 .
### Output Text: | 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 . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: 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 . .
### Output Text: | This demonstrated ( 1 ) the association between mutations in exons 8 and 9 and <span class="disease">DMS</span> ; ( 2 ) among patients with <span class="disease">DMS</span> , 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 . . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: The 185delAG BRCA1 mutation originated before the dispersion of Jews in the diaspora and is not limited to Ashkenazim .
### Output Text: | The 185delAG BRCA1 mutation originated before the dispersion of Jews in the diaspora and is not limited to Ashkenazim . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: The 185delAG mutation in BRCA1 is detected in Ashkenazi Jews both in familial breast and ovarian cancer and in the general population .
### Output Text: | The 185delAG mutation in BRCA1 is detected in Ashkenazi Jews both in <span class="disease">familial breast and ovarian cancer</span> and in the general population . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: All tested Ashkenazi mutation carriers share the same allelic pattern at the BRCA1 locus .
### Output Text: | All tested Ashkenazi mutation carriers share the same allelic pattern at the BRCA1 locus . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Our previous study showed that this Ashkenazi mutation also occurs in Iraqi Jews with a similar allelic pattern .
### Output Text: | Our previous study showed that this Ashkenazi mutation also occurs in Iraqi Jews with a similar allelic pattern . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: We extended our analysis to other non - Ashkenazi subsets 354 of Moroccan origin , 200 Yemenites and 150 Iranian Jews .
### Output Text: | We extended our analysis to other non - Ashkenazi subsets 354 of Moroccan origin , 200 Yemenites and 150 Iranian Jews . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Heteroduplex analysis complemented by direct DNA sequencing of abnormally migrating bands were employed .
### Output Text: | Heteroduplex analysis complemented by direct DNA sequencing of abnormally migrating bands were employed . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Four of Moroccan origin ( 1 . 1 % ) and none of the Yemenites or Iranians was a carrier of the 185delAG mutation .
### Output Text: | Four of Moroccan origin ( 1 . 1 % ) and none of the Yemenites or Iranians was a carrier of the 185delAG mutation . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: BRCA1 allelic patterns were determined for four of these individuals and for 12 additional non - Ashkenazi 185delAG mutation carriers who had breast / ovarian cancer .
### Output Text: | BRCA1 allelic patterns were determined for four of these individuals and for 12 additional non - Ashkenazi 185delAG mutation carriers who had <span class="disease">breast / ovarian cancer</span> . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Six non - Ashkenazi individuals shared the common Ashkenazi haplotype , four had a closely related pattern , and the rest ( n = 6 ) displayed a distinct BRCA1 allelic pattern .
### Output Text: | Six non - Ashkenazi individuals shared the common Ashkenazi haplotype , four had a closely related pattern , and the rest ( n = 6 ) displayed a distinct BRCA1 allelic pattern . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: We conclude that the 185delAG BRCA1 mutation occurs in some non - Ashkenazi populations at rates comparable with that of Ashkenazim .
### Output Text: | We conclude that the 185delAG BRCA1 mutation occurs in some non - Ashkenazi populations at rates comparable with that of Ashkenazim . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: The majority of Jewish 185delAG mutation carriers have a common allelic pattern , supporting the founder effect notion , but dating the mutations origin to an earlier date than currently estimated .
### Output Text: | The majority of Jewish 185delAG mutation carriers have a common allelic pattern , supporting the founder effect notion , but dating the mutations origin to an earlier date than currently estimated . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: However , the different allelic pattern at the BRCA1 locus even in some Jewish mutation carriers , might suggest that the mutation arose independently . .
### Output Text: | However , the different allelic pattern at the BRCA1 locus even in some Jewish mutation carriers , might suggest that the mutation arose independently . . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor .
### Output Text: | Crystal structure of the <span class="disease">hemochromatosis</span> protein HFE and characterization of its interaction with transferrin receptor . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: HFE is an MHC - related protein that is mutated in the iron - overload disease hereditary hemochromatosis .
### Output Text: | HFE is an MHC - related protein that is mutated in the <span class="disease">iron - overload disease</span> <span class="disease">hereditary hemochromatosis</span> . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: HFE binds to transferrin receptor ( TfR ) and reduces its affinity for iron - loaded transferrin , implicating HFE in iron metabolism .
### Output Text: | HFE binds to transferrin receptor ( TfR ) and reduces its affinity for iron - loaded transferrin , implicating HFE in iron metabolism . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: The 2 .
### Output Text: | The 2 . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: 6 A crystal structure of HFE reveals the locations of hemochromatosis mutations and a patch of histidines that could be involved in pH - dependent interactions .
### Output Text: | 6 A crystal structure of HFE reveals the locations of <span class="disease">hemochromatosis</span> mutations and a patch of histidines that could be involved in pH - dependent interactions . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: We also demonstrate that soluble TfR and HFE bind tightly at the basic pH of the cell surface , but not at the acidic pH of intracellular vesicles .
### Output Text: | We also demonstrate that soluble TfR and HFE bind tightly at the basic pH of the cell surface , but not at the acidic pH of intracellular vesicles . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: TfR HFE stoichiometry ( 2 1 ) differs from TfR transferrin stoichiometry ( 2 2 ) , implying a different mode of binding for HFE and transferrin to TfR , consistent with our demonstration that HFE , transferrin , and TfR form a ternary complex .
### Output Text: | TfR HFE stoichiometry ( 2 1 ) differs from TfR transferrin stoichiometry ( 2 2 ) , implying a different mode of binding for HFE and transferrin to TfR , consistent with our demonstration that HFE , transferrin , and TfR form a ternary complex . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease .
### Output Text: | Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with <span class="disease">Wilson disease</span> . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Four mutations - - R778L , A874V , L1083F , and 2304delC - - in the copper - transporting enzyme , P - type ATPase ( ATP7B ) , were identified in Korean Patients with Wilson disease .
### Output Text: | Four mutations - - R778L , A874V , L1083F , and 2304delC - - in the copper - transporting enzyme , P - type ATPase ( ATP7B ) , were identified in Korean Patients with <span class="disease">Wilson disease</span> . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Arg778Leu , the most frequently reported mutation of this enzyme , was found in six of eight unrelated patients studied , an allele frequency of 37 .
### Output Text: | Arg778Leu , the most frequently reported mutation of this enzyme , was found in six of eight unrelated patients studied , an allele frequency of 37 . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: 5 % , which is considerably higher than those in other Asian populations .
### Output Text: | 5 % , which is considerably higher than those in other Asian populations . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: The novel single nucleotide deletion , 2304delC , was found in one patient .
### Output Text: | The novel single nucleotide deletion , 2304delC , was found in one patient . |