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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: To date , however , linkage studies have attempted only to identify chromosomal loci that cause or increase the risk of developing BPAD .
### Output Text: | To date , however , linkage studies have attempted only to identify chromosomal loci that cause or increase the risk of developing <span class="disease">BPAD</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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Use <span class="disease"> to denote a disease.
### Input Text: To determine whether there could be protective alleles that prevent or reduce the risk of developing BPAD , similar to what is observed in other genetic disorders , we used mental health wellness ( absence of any psychiatric disorder ) as the phenotype in our genome - wide linkage scan of several large multigeneration Old Order Amish pedigrees exhibiting an extremely high incidence of BPAD .
### Output Text: | To determine whether there could be protective alleles that prevent or reduce the risk of developing <span class="disease">BPAD</span> , similar to what is observed in other <span class="disease">genetic disorders</span> , we used mental health wellness ( absence of any <span class="disease">psychiatric disorder</span> ) as the phenotype in our genome - wide linkage scan of several large multigeneration Old Order Amish pedigrees exhibiting an extremely high incidence of <span class="disease">BPAD</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 have found strong evidence for a locus on chromosome 4p at D4S2949 ( maximum GENEHUNTER - PLUS nonparametric linkage score = 4 . 05 , P = 5 . 22 x 10 ( - 4 ) ; SIBPAL Pempirical value < 3 x 10 ( - 5 ) ) and suggestive evidence for a locus on chromosome 4q at D4S397 ( maximum GENEHUNTER - PLUS nonparametric linkage score = 3 . 29 , P = 2 . 57 x 10 ( - 3 ) ; SIBPAL Pempirical value < 1 x 10 ( - 3 ) ) that are linked to mental health wellness .
### Output Text: | We have found strong evidence for a locus on chromosome 4p at D4S2949 ( maximum GENEHUNTER - PLUS nonparametric linkage score = 4 . 05 , P = 5 . 22 x 10 ( - 4 ) ; SIBPAL Pempirical value < 3 x 10 ( - 5 ) ) and suggestive evidence for a locus on chromosome 4q at D4S397 ( maximum GENEHUNTER - PLUS nonparametric linkage score = 3 . 29 , P = 2 . 57 x 10 ( - 3 ) ; SIBPAL Pempirical value < 1 x 10 ( - 3 ) ) that are linked to mental health wellness . |
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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Use <span class="disease"> to denote a disease.
### Input Text: These findings are consistent with the hypothesis that certain alleles could prevent or modify the clinical manifestations of BPAD and perhaps other related affective disorders .
### Output Text: | These findings are consistent with the hypothesis that certain alleles could prevent or modify the clinical manifestations of <span class="disease">BPAD</span> and perhaps other related <span class="disease">affective disorders</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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Use <span class="disease"> to denote a disease.
### Input Text: Segregation distortion in myotonic dystrophy .
### Output Text: | Segregation distortion in <span class="disease">myotonic dystrophy</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: Myotonic dystrophy ( DM ) is an autosomal dominant disease which , in the typical pedigree , shows a three generation anticipation cascade .
### Output Text: | <span class="disease">Myotonic dystrophy</span> ( <span class="disease">DM</span> ) is an <span class="disease">autosomal dominant disease</span> which , in the typical pedigree , shows a three generation anticipation cascade . |
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 results in infertility and congenital myotonic dystrophy ( CDM ) with the disappearance of DM in that pedigree .
### Output Text: | This results in <span class="disease">infertility</span> and <span class="disease">congenital myotonic dystrophy</span> ( <span class="disease">CDM</span> ) with the disappearance of <span class="disease">DM</span> in that pedigree . |
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 concept of segregation distortion , where there is preferential transmission of the larger allele at the DM locus , has been put forward to explain partially the maintenance of DM in the population .
### Output Text: | The concept of segregation distortion , where there is preferential transmission of the larger allele at the <span class="disease">DM</span> locus , has been put forward to explain partially the maintenance of <span class="disease">DM</span> in the 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: In a survey of DM in Northern Ireland , 59 pedigrees were ascertained .
### Output Text: | In a survey of <span class="disease">DM</span> in Northern Ireland , 59 pedigrees were ascertained . |
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: Sibships where the status of all the members had been identified were examined to determine the transmission of the DM expansion from affected parents to their offspring .
### Output Text: | Sibships where the status of all the members had been identified were examined to determine the transmission of the <span class="disease">DM</span> expansion from affected parents to their offspring . |
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: Where the transmitting parent was male , 58 .
### Output Text: | Where the transmitting parent was male , 58 . |
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: 3 % of the offspring were affected , and in the case of a female transmitting parent , 68 .
### Output Text: | 3 % of the offspring were affected , and in the case of a female transmitting parent , 68 . |
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: 7 % were affected .
### Output Text: | 7 % were affected . |
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: Studies on meiotic drive in DM have shown increased transmission of the larger allele at the DM locus in non - DM heterozygotes for CTGn .
### Output Text: | Studies on meiotic drive in <span class="disease">DM</span> have shown increased transmission of the larger allele at the <span class="disease">DM</span> locus in non - DM heterozygotes for CTGn . |
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 study provides further evidence that the DM expansion tends to be transmitted preferentially .
### Output Text: | This study provides further evidence that the <span class="disease">DM</span> expansion tends to be transmitted preferentially . |
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: Diagnosis of hemochromatosis .
### Output Text: | Diagnosis of <span class="disease">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: If untreated , hemochromatosis can cause serious illness and early death , but the disease is still substantially under - diagnosed .
### Output Text: | If untreated , <span class="disease">hemochromatosis</span> can cause serious illness and <span class="disease">early death</span> , but the disease is still substantially under - diagnosed . |
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 cornerstone of screening and case detection is the measurement of serum transferrin saturation and the serum ferritin level .
### Output Text: | The cornerstone of screening and case detection is the measurement of serum transferrin saturation and the serum ferritin level . |
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: Once the diagnosis is suspected , physicians must use serum ferritin levels and hepatic iron stores on liver biopsy specimens to assess patients for the presence of iron overload .
### Output Text: | Once the diagnosis is suspected , physicians must use serum ferritin levels and hepatic iron stores on liver biopsy specimens to assess patients for the presence of <span class="disease">iron overload</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: Liver biopsy is also used to establish the presence or absence of cirrhosis , which can affect prognosis and management .
### Output Text: | Liver biopsy is also used to establish the presence or absence of <span class="disease">cirrhosis</span> , which can affect prognosis and management . |
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: A DNA - based test for the HFE gene is commercially available , but its place in the diagnosis of hemochromatosis is still being evaluated .
### Output Text: | A DNA - based test for the HFE gene is commercially available , but its place in the diagnosis of <span class="disease">hemochromatosis</span> is still being evaluated . |
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: Currently , the most useful role for this test is in the detection of hemochromatosis in the family members of patients with a proven case of the disease .
### Output Text: | Currently , the most useful role for this test is in the detection of <span class="disease">hemochromatosis</span> in the family members of patients with a proven case of the 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: It is crucial to diagnose hemochromatosis before hepatic cirrhosis develops because phlebotomy therapy can avert serious chronic disease and can even lead to normal life expectancy . .
### Output Text: | It is crucial to diagnose <span class="disease">hemochromatosis</span> before <span class="disease">hepatic cirrhosis</span> develops because phlebotomy therapy can avert serious chronic disease and can even lead to normal life expectancy . . |
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: Prevalence of the I1307K APC gene variant in Israeli Jews of differing ethnic origin and risk for colorectal cancer .
### Output Text: | Prevalence of the I1307K <span class="disease">APC</span> gene variant in Israeli Jews of differing ethnic origin and risk for <span class="disease">colorectal 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: BACKGROUND & AIMS Israeli Jews of European birth , i . e . , Ashkenazim , have the highest colorectal cancer incidence of any Israeli ethnic group .
### Output Text: | BACKGROUND & AIMS Israeli Jews of European birth , i . e . , Ashkenazim , have the highest <span class="disease">colorectal cancer</span> incidence of any Israeli ethnic group . |
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 I1307K APC gene variant was found in 6 .
### Output Text: | The I1307K <span class="disease">APC</span> gene variant was found in 6 . |
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: 1 % of American Jews , 28 % of their familial colorectal cancer cases , but not in non - Jews .
### Output Text: | 1 % of American Jews , 28 % of their familial <span class="disease">colorectal cancer</span> cases , but not in non - 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: We assessed the I1307K prevalence in Israeli Jews of differing ethnic origin and risk for colorectal cancer .
### Output Text: | We assessed the I1307K prevalence in Israeli Jews of differing ethnic origin and risk for <span class="disease">colorectal 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: METHODS DNA samples from 500 unrelated Jews of European or non - European origin , with or without a personal and / or family history of neoplasia , were examined for the I1307K variant by the allele - specific oligonucleotide ( ASO ) method .
### Output Text: | METHODS DNA samples from 500 unrelated Jews of European or non - European origin , with or without a personal and / or family history of <span class="disease">neoplasia</span> , were examined for the I1307K variant by the allele - specific oligonucleotide ( ASO ) method . |
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: RESULTS In persons at average risk for colorectal cancer , I1307K was found in 5 .
### Output Text: | RESULTS In persons at average risk for <span class="disease">colorectal cancer</span> , I1307K was found in 5 . |
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: 0 % of 120 European and 1 .
### Output Text: | 0 % of 120 European and 1 . |
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 % of 188 non - European Jews ( P = 0 . 08 ) .
### Output Text: | 6 % of 188 non - European Jews ( P = 0 . 08 ) . |
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: It occurred in 15 .
### Output Text: | It occurred in 15 . |
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: 4 % of 52 Ashkenazi Israelis with familial cancer ( P = 0 . 02 ) and was not detected in 51 non - European Jews at increased cancer risk .
### Output Text: | 4 % of 52 Ashkenazi Israelis with familial <span class="disease">cancer</span> ( P = 0 . 02 ) and was not detected in 51 non - European Jews at increased <span class="disease">cancer</span> risk . |
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: Colorectal neoplasia occurred personally or in the families of 13 of 20 Ashkenazi I1307K carriers , 8 of whom also had a personal or family history of noncolonic neoplasia .
### Output Text: | <span class="disease">Colorectal neoplasia</span> occurred personally or in the families of 13 of 20 Ashkenazi I1307K carriers , 8 of whom also had a personal or family history of noncolonic <span class="disease">neoplasia</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: CONCLUSIONS The I1307K APC variant may represent a susceptibility gene for colorectal , or other , cancers in Ashkenazi Jews , and partially explains the higher incidence of colorectal cancer in European Israelis .
### Output Text: | CONCLUSIONS The I1307K APC variant may represent a susceptibility gene for <span class="disease">colorectal , or other , cancers</span> in Ashkenazi Jews , and partially explains the higher incidence of <span class="disease">colorectal cancer</span> in European Israelis . |
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: Systematic analysis of coproporphyrinogen oxidase gene defects in hereditary coproporphyria and mutation update .
### Output Text: | Systematic analysis of coproporphyrinogen oxidase gene defects in <span class="disease">hereditary coproporphyria</span> and mutation update . |
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: Hereditary coproporphyria ( HC ) is an acute hepatic porphyria with autosomal dominant inheritance caused by deficient activity of coproporphyrinogen III oxidase ( CPO ) .
### Output Text: | <span class="disease">Hereditary coproporphyria</span> ( <span class="disease">HC</span> ) is an acute <span class="disease">hepatic porphyria</span> with autosomal dominant inheritance caused by <span class="disease">deficient activity of coproporphyrinogen III oxidase</span> ( CPO ) . |
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: Clinical manifestations of the disease are characterized by acute attacks of neurological dysfunction often precipitated by drugs , fasting , cyclical hormonal changes , or infectious diseases .
### Output Text: | Clinical manifestations of the disease are characterized by acute attacks of <span class="disease">neurological dysfunction</span> often precipitated by drugs , fasting , cyclical hormonal changes , or <span class="disease">infectious diseases</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: Skin photosensitivity may also be present .
### Output Text: | Skin photosensitivity may also be present . |
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 seven exons , the exon / intron boundaries and part of 3 noncoding sequence of the CPO gene were systematically analyzed by an exon - by - exon denaturing gradient gel electrophoresis ( DGGE ) strategy followed by direct sequencing in seven unrelated heterozygous HC patients from France , Holland , and Czech Republic .
### Output Text: | The seven exons , the exon / intron boundaries and part of 3 noncoding sequence of the CPO gene were systematically analyzed by an exon - by - exon denaturing gradient gel electrophoresis ( DGGE ) strategy followed by direct sequencing in seven unrelated heterozygous <span class="disease">HC</span> patients from France , Holland , and Czech Republic . |
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: Seven novel mutations and two new polymorphisms were detected .
### Output Text: | Seven novel mutations and two new polymorphisms were detected . |
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: Among these mutations two are missense ( G197W , W427R ) , two are nonsense ( Q306X , Q385X ) , two are small deletions ( 662de14bp ; 1168del3bp removing a glycine at position 390 ) , and one is a splicing mutation ( IVS1 - 15c - - > g ) which creates a new acceptor splice site .
### Output Text: | Among these mutations two are missense ( G197W , W427R ) , two are nonsense ( Q306X , Q385X ) , two are small deletions ( 662de14bp ; 1168del3bp removing a glycine at position 390 ) , and one is a splicing mutation ( IVS1 - 15c - - > g ) which creates a new acceptor splice site . |
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 pathological significance of the point mutations G197W , W427R , and the in - frame deletion 390delGly were assessed by their respective expression in a prokaryotic system using site - directed mutagenesis .
### Output Text: | The pathological significance of the point mutations G197W , W427R , and the in - frame deletion 390delGly were assessed by their respective expression in a prokaryotic system using site - directed mutagenesis . |
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 mutations resulted in the absence or a dramatic decrease of CPO activity .
### Output Text: | These mutations resulted in the absence or a dramatic decrease of CPO activity . |
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 two polymorphisms were localized in noncoding part of the gene 1 ) a C / G polymorphism in the promotor region , 142 bp upstream from the transcriptional initiation site ( - 142C / G ) , and 2 ) a 6 bp deletion polymorphism in the 3 noncoding part of the CPO gene , 574 bp downstream of the last base of the normal termination codon ( + 574 delATTCTT ) .
### Output Text: | The two polymorphisms were localized in noncoding part of the gene 1 ) a C / G polymorphism in the promotor region , 142 bp upstream from the transcriptional initiation site ( - 142C / G ) , and 2 ) a 6 bp deletion polymorphism in the 3 noncoding part of the CPO gene , 574 bp downstream of the last base of the normal termination codon ( + 574 delATTCTT ) . |
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: Five intragenic dimorphisms are now well characterized and the high degree of allelic heterogeneity in HC is demonstrated with seven new different mutations making a total of nineteen CPO gene defects reported so far . .
### Output Text: | Five intragenic dimorphisms are now well characterized and the high degree of allelic heterogeneity in <span class="disease">HC</span> is demonstrated with seven new different mutations making a total of nineteen CPO <span class="disease">gene defects</span> reported so far . . |
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: Coincidence of two novel arylsulfatase A alleles and mutation 459 + 1G > A within a family with metachromatic leukodystrophy : molecular basis of phenotypic heterogeneity .
### Output Text: | Coincidence of two novel arylsulfatase A alleles and mutation 459 + 1G > A within a family with <span class="disease">metachromatic leukodystrophy</span> : molecular basis of phenotypic heterogeneity . |
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: In a family with three siblings , one developed classical late infantile metachromatic leukodystrophy ( MLD ) , fatal at age 5 years , with deficient arylsulfatase A ( ARSA ) activity and increased galactosylsulfatide ( GS ) excretion .
### Output Text: | In a family with three siblings , one developed classical late infantile <span class="disease">metachromatic leukodystrophy</span> ( <span class="disease">MLD</span> ) , fatal at age 5 years , with deficient arylsulfatase A ( ARSA ) activity and increased galactosylsulfatide ( GS ) excretion . |
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 two other siblings , apparently healthy at 12 ( 1 / 2 ) and 15 years , respectively , and their father , apparently healthy as well , presented ARSA and GS values within the range of MLD patients .
### Output Text: | The two other siblings , apparently healthy at 12 ( 1 / 2 ) and 15 years , respectively , and their father , apparently healthy as well , presented ARSA and GS values within the range of <span class="disease">MLD</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: Mutation screening and sequence analysis disclosed the involvement of three different ARSA mutations being the molecular basis of intrafamilial phenotypic heterogeneity .
### Output Text: | Mutation screening and sequence analysis disclosed the involvement of three different ARSA mutations being the molecular basis of intrafamilial phenotypic heterogeneity . |
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 late infantile patient inherited from his mother the frequent 0 - type mutation 459 + 1G > A , and from his father a novel , single basepair microdeletion of guanine at nucleotide 7 in exon 1 ( 7delG ) .
### Output Text: | The late infantile patient inherited from his mother the frequent 0 - type mutation 459 + 1G > A , and from his father a novel , single basepair microdeletion of guanine at nucleotide 7 in exon 1 ( 7delG ) . |
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 two clinically unaffected siblings carried the maternal mutation 459 + 1G > A and , on their paternal allele , a novel cytosine to thymidine transition at nucleotide 2435 in exon 8 , resulting in substitution of alanine 464 by valine ( A464V ) .
### Output Text: | The two clinically unaffected siblings carried the maternal mutation 459 + 1G > A and , on their paternal allele , a novel cytosine to thymidine transition at nucleotide 2435 in exon 8 , resulting in substitution of alanine 464 by valine ( A464V ) . |
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 fathers genotype thus was 7delG / A464V .
### Output Text: | The fathers genotype thus was 7delG / A464V . |
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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Use <span class="disease"> to denote a disease.
### Input Text: Mutation A464V was not found in 18 unrelated MLD patients and 50 controls .
### Output Text: | Mutation A464V was not found in 18 unrelated <span class="disease">MLD</span> patients and 50 controls . |
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: A464V , although clearly modifying ARSA and GS levels , apparently bears little significance for clinical manifestation of MLD , mimicking the frequent ARSA pseudodeficiency allele .
### Output Text: | A464V , although clearly modifying ARSA and GS levels , apparently bears little significance for clinical manifestation of <span class="disease">MLD</span> , mimicking the frequent ARSA pseudodeficiency allele . |
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 results demonstrate that in certain genetic conditions MLD - like ARSA and GS values need not be paralleled by clinical disease , a finding with serious diagnostic and prognostic implications .
### Output Text: | Our results demonstrate that in certain genetic conditions <span class="disease">MLD</span> - like ARSA and GS values need not be paralleled by clinical disease , a finding with serious diagnostic and prognostic implications . |
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: Moreover , further ARSA alleles functionally similar to A464V might exist which , together with 0 - type mutations , may cause pathological ARSA and GS levels , but not clinical outbreak of the disease . .
### Output Text: | Moreover , further ARSA alleles functionally similar to A464V might exist which , together with 0 - type mutations , may cause pathological ARSA and GS levels , but not clinical outbreak of the 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: Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1 .
### Output Text: | Human MLH1 deficiency predisposes to <span class="disease">hematological malignancy</span> and <span class="disease">neurofibromatosis type 1</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: Heterozygous germ - line mutations in the DNA mismatch repair genes lead to hereditary nonpolyposis colorectal cancer .
### Output Text: | Heterozygous germ - line mutations in the DNA mismatch repair genes lead to <span class="disease">hereditary nonpolyposis colorectal 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: The disease susceptibility of individuals who constitutionally lack both wild - type alleles is unknown .
### Output Text: | The disease susceptibility of individuals who constitutionally lack both wild - type alleles is unknown . |
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 have identified three offspring in a hereditary nonpolyposis colorectal cancer family who developed hematological malignancy at a very early age , and at least two of them displayed signs of neurofibromatosis type 1 ( NF1 ) .
### Output Text: | We have identified three offspring in a <span class="disease">hereditary nonpolyposis colorectal cancer</span> family who developed <span class="disease">hematological malignancy</span> at a very early age , and at least two of them displayed signs of <span class="disease">neurofibromatosis type 1</span> ( <span class="disease">NF1</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: DNA sequence analysis and allele - specific amplification in two siblings revealed a homozygous MLH1 mutation ( C676T - - > Arg226Stop ) .
### Output Text: | DNA sequence analysis and allele - specific amplification in two siblings revealed a homozygous MLH1 mutation ( C676T - - > Arg226Stop ) . |
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: Thus , a homozygous germ - line MLH1 mutation and consequent mismatch repair deficiency results in a mutator phenotype characterized by leukemia and / or lymphoma associated with neurofibromatosis type 1 . .
### Output Text: | Thus , a homozygous germ - line MLH1 mutation and consequent mismatch repair deficiency results in a mutator phenotype characterized by <span class="disease">leukemia</span> and / or <span class="disease">lymphoma</span> associated with <span class="disease">neurofibromatosis type 1</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: Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations .
### Output Text: | Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human <span class="disease">congenital eye malformations</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: Mutations of the human PAX6 gene underlie aniridia ( congenital absence of the iris ) , a rare dominant malformation of the eye .
### Output Text: | Mutations of the human PAX6 gene underlie <span class="disease">aniridia</span> ( <span class="disease">congenital absence of the iris</span> ) , a rare dominant <span class="disease">malformation of the eye</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: The spectrum of PAX6 mutations in aniridia patients is highly biased , with 92 % of all reported mutations leading to premature truncation of the protein ( nonsense , splicing , insertions and deletions ) and just 2 % leading to substitution of one amino acid by another ( missense ) .
### Output Text: | The spectrum of PAX6 mutations in <span class="disease">aniridia</span> patients is highly biased , with 92 % of all reported mutations leading to premature truncation of the protein ( nonsense , splicing , insertions and deletions ) and just 2 % leading to substitution of one amino acid by another ( missense ) . |
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 extraordinary conservation of the PAX6 protein at the amino acid level amongst vertebrates predicts that pathological missense mutations should in fact be common even though they are hardly ever seen in aniridia patients .
### Output Text: | The extraordinary conservation of the PAX6 protein at the amino acid level amongst vertebrates predicts that pathological missense mutations should in fact be common even though they are hardly ever seen in <span class="disease">aniridia</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: This indicates that there is a heavy ascertainment bias in the selection of patients for PAX6 mutation analysis and that the missing PAX6 missense mutations frequently may underlie phenotypes distinct from textbook aniridia .
### Output Text: | This indicates that there is a heavy ascertainment bias in the selection of patients for PAX6 mutation analysis and that the missing PAX6 missense mutations frequently may underlie phenotypes distinct from textbook <span class="disease">aniridia</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: Here we present four novel PAX6 missense mutations , two in association with atypical phenotypes ectopia pupillae ( displaced pupils ) and congenital nystagmus ( searching gaze ) , and two in association with more recognizable aniridia phenotypes .
### Output Text: | Here we present four novel PAX6 missense mutations , two in association with atypical phenotypes <span class="disease">ectopia pupillae</span> ( <span class="disease">displaced pupils</span> ) and <span class="disease">congenital nystagmus</span> ( <span class="disease">searching gaze</span> ) , and two in association with more recognizable <span class="disease">aniridia</span> 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.
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### Input Text: Strikingly , all four mutations are located within the PAX6 paired domain and affect amino acids which are highly conserved in all known paired domain proteins .
### Output Text: | Strikingly , all four mutations are located within the PAX6 paired domain and affect amino acids which are highly conserved in all known paired domain proteins . |
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 results support the hypothesis that the under - representation of missense mutations is caused by ascertainment bias and suggest that a substantial burden of PAX6 - related disease remains to be uncovered . .
### Output Text: | Our results support the hypothesis that the under - representation of missense mutations is caused by ascertainment bias and suggest that a substantial burden of <span class="disease">PAX6 - related disease</span> remains to be uncovered . . |
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 chromosomal order of genes controlling the major histocompatibility complex , properdin factor B , and deficiency of the second component of complement .
### Output Text: | The chromosomal order of genes controlling the major histocompatibility complex , properdin factor B , and <span class="disease">deficiency of the second component of complement</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: 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 .
### Output Text: | The relationship of the genes coding for HLA to those coding for properdin Factor B allotypes and for <span class="disease">deficiency of the second component of complement</span> ( C2 ) was studied in families of patients with connective tissue disorders . |
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: Patients were selected because they were heterozygous or homozygous for C2 deficiency .
### Output Text: | Patients were selected because they were heterozygous or homozygous for <span class="disease">C2 deficiency</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: 12 families with 15 matings informative for C2 deficiency were found .
### Output Text: | 12 families with 15 matings informative for <span class="disease">C2 deficiency</span> were 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.
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### Input Text: Of 57 informative meioses , two crossovers were noted between the C2 deficiency gene and the HLA - B gene , with a recombinant fraction of 0 .
### Output Text: | Of 57 informative meioses , two crossovers were noted between the <span class="disease">C2 deficiency</span> gene and the HLA - B gene , with a recombinant fraction of 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.
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### Input Text: 035 .
### Output Text: | 035 . |
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: 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 .
### Output Text: | A lod score of 13 was calculated for linkage between <span class="disease">C2 deficiency</span> and HLA - B at a maximum likelihood value of the recombinant fraction of 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.
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### Input Text: 04 .
### Output Text: | 04 . |
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: 18 families with 21 informative matings for both properdin Factor B allotype and HLA - B were found .
### Output Text: | 18 families with 21 informative matings for both properdin Factor B allotype and HLA - B were 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.
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### Input Text: Of 72 informative meioses , three recombinants were found , giving a recombinant fraction of 0 .
### Output Text: | Of 72 informative meioses , three recombinants were found , giving a recombinant fraction of 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.
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### Input Text: 042 .
### Output Text: | 042 . |
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: 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 .
### Output Text: | 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 . |
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: 04 .
### Output Text: | 04 . |
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: 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 .
### Output Text: | 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 . |
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 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 .
### Output Text: | These studies suggest that the genes for Factor B and <span class="disease">C2 deficiency</span> are located outside those for HLA , that the order of genese is HLA - A , - B , - D , Factor B allotype , <span class="disease">C2 deficiency</span> , that the genes coding for <span class="disease">C2 deficiency</span> 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 <span class="disease">C2 deficiency</span> gene suggests that these two genes lie in close proximity to one another . |
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: Distribution of emerin and lamins in the heart and implications for Emery - Dreifuss muscular dystrophy .
### Output Text: | Distribution of emerin and lamins in the heart and implications for <span class="disease">Emery - Dreifuss muscular dystrophy</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: Emerin is a nuclear membrane protein which is missing or defective in Emery - Dreifuss muscular dystrophy ( EDMD ) .
### Output Text: | Emerin is a nuclear membrane protein which is missing or defective in <span class="disease">Emery - Dreifuss muscular dystrophy</span> ( <span class="disease">EDMD</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: It is one member of a family of lamina - associated proteins which includes LAP1 , LAP2 and lamin B receptor ( LBR ) .
### Output Text: | It is one member of a family of lamina - associated proteins which includes LAP1 , LAP2 and lamin B receptor ( LBR ) . |
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: 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 .
### Output Text: | 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 . |
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: 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 .
### Output Text: | 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 . |
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: 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 .
### Output Text: | 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 . |
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 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 .
### Output Text: | 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 <span class="disease">cardiac defects</span> in <span class="disease">EDMD</span> are caused by absence of emerin from intercalated discs . |
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: Although emerin was abundant in the membranes of cardiomyocyte nuclei , it was absent from many non - myocyte cells in the heart .
### Output Text: | Although emerin was abundant in the membranes of cardiomyocyte nuclei , it was absent from many non - myocyte cells in the heart . |
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 distribution of emerin was similar to that of lamin A , a candidate gene for an autosomal form of EDMD .
### Output Text: | This distribution of emerin was similar to that of lamin A , a candidate gene for an autosomal form of <span class="disease">EDMD</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: In contrast , lamin B1 was absent from cardiomyocyte nuclei , showing that lamin B1 is not essential for localization of emerin to the nuclear lamina .
### Output Text: | In contrast , lamin B1 was absent from cardiomyocyte nuclei , showing that lamin B1 is not essential for localization of emerin to the nuclear lamina . |
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: Lamin B1 is also almost completely absent from skeletal muscle nuclei .
### Output Text: | Lamin B1 is also almost completely absent from skeletal muscle nuclei . |
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: 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 . .
### Output Text: | In <span class="disease">EDMD</span> , 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 . . |
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: Genetic mapping of the copper toxicosis locus in Bedlington terriers to dog chromosome 10 , in a region syntenic to human chromosome region 2p13 - p16 .
### Output Text: | Genetic mapping of the <span class="disease">copper toxicosis</span> locus in Bedlington terriers to dog chromosome 10 , in a region syntenic to human chromosome region 2p13 - p16 . |