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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: Thus , BRCA1 and BRCA2 participate , together , in a pathway ( s ) associated with the activation of double - strand break repair and / or homologous recombination .
### Output Text: | Thus , BRCA1 and BRCA2 participate , together , in a pathway ( s ) associated with the activation of double - strand break repair and / or homologous recombination . |
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: Dysfunction of this pathway may be a general phenomenon in the majority of cases of hereditary breast and / or ovarian cancer . .
### Output Text: | Dysfunction of this pathway may be a general phenomenon in the majority of cases of <span class="disease">hereditary breast and / or 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.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: A novel Arg362Ser mutation in the sterol 27 - hydroxylase gene ( CYP27 ) : its effects on pre - mRNA splicing and enzyme activity .
### Output Text: | A novel Arg362Ser mutation in the sterol 27 - hydroxylase gene ( CYP27 ) : its effects on pre - mRNA splicing and enzyme 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.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: A novel C to A mutation in the sterol 27 - hydroxylase gene ( CYP27 ) was identified by sequencing amplified CYP27 gene products from a patient with cerebrotendinous xanthomatosis ( CTX ) .
### Output Text: | A novel C to A mutation in the sterol 27 - hydroxylase gene ( CYP27 ) was identified by sequencing amplified CYP27 gene products from a patient with <span class="disease">cerebrotendinous xanthomatosis</span> ( <span class="disease">CTX</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 mutation changed the adrenodoxin cofactor binding residue 362Arg to 362Ser ( CGT 362Arg to AGT 362Ser ) , and was responsible for deficiency in the sterol 27 - hydroxylase activity , as confirmed by expression of mutant cDNA into COS - 1 cells .
### Output Text: | The mutation changed the adrenodoxin cofactor binding residue 362Arg to 362Ser ( CGT 362Arg to AGT 362Ser ) , and was responsible for deficiency in the sterol 27 - hydroxylase activity , as confirmed by expression of mutant cDNA into COS - 1 cells . |
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: Quantitative analysis showed that the expression of CYP27 gene mRNA in the patient represented 52 .
### Output Text: | Quantitative analysis showed that the expression of CYP27 gene mRNA in the patient represented 52 . |
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: 5 % of the normal level .
### Output Text: | 5 % of the normal 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.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: As the mutation occurred at the penultimate nucleotide of exon 6 ( - 2 position of exon 6 - intron 6 splice site ) of the gene , we hypothesized that the mutation may partially affect the normal splicing efficiency in exon 6 and cause alternative splicing elsewhere , which resulted in decreased transcript in the patient .
### Output Text: | As the mutation occurred at the penultimate nucleotide of exon 6 ( - 2 position of exon 6 - intron 6 splice site ) of the gene , we hypothesized that the mutation may partially affect the normal splicing efficiency in exon 6 and cause alternative splicing elsewhere , which resulted in decreased transcript in the patient . |
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: Transfection of constructed minigenes , with or without the mutation , into COS - 1 cells confirmed that the mutant minigene was responsible for a mRNA species alternatively spliced at an activated cryptic 5 splice site 88 bp upstream from the 3 end of exon 6 .
### Output Text: | Transfection of constructed minigenes , with or without the mutation , into COS - 1 cells confirmed that the mutant minigene was responsible for a mRNA species alternatively spliced at an activated cryptic 5 splice site 88 bp upstream from the 3 end of exon 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.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Our data suggest that the C to A mutation at the penultimate nucleotide of exon 6 of the CYP27 gene not only causes the deficiency in the sterol 27 - hydroxylase activity , but also partially leads to alternative pre - mRNA splicing of the gene .
### Output Text: | Our data suggest that the C to A mutation at the penultimate nucleotide of exon 6 of the CYP27 gene not only causes the <span class="disease">deficiency in the sterol 27 - hydroxylase activity</span> , but also partially leads to alternative pre - mRNA splicing 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: To our knowledge , this is the first report regarding effects on pre - mRNA splicing of a mutation at the - 2 position of a 5 splice site .
### Output Text: | To our knowledge , this is the first report regarding effects on pre - mRNA splicing of a mutation at the - 2 position of a 5 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.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: ATM germline mutations in classical ataxia - telangiectasia patients in the Dutch population .
### Output Text: | ATM germline mutations in classical <span class="disease">ataxia - telangiectasia</span> patients in the Dutch 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.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Germline mutations in the ATM gene are responsible for the autosomal recessive disorder ataxia - telangiectasia ( A - T ) .
### Output Text: | Germline mutations in the ATM gene are responsible for the <span class="disease">autosomal recessive disorder</span> <span class="disease">ataxia - telangiectasia</span> ( <span class="disease">A - T</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: In our study , we have determined the ATM mutation spectrum in 19 classical A - T patients , including some immigrant populations , as well as 12 of Dutch ethnic origin .
### Output Text: | In our study , we have determined the ATM mutation spectrum in 19 classical <span class="disease">A - T</span> patients , including some immigrant populations , as well as 12 of Dutch ethnic origin . |
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 the protein truncation test ( PTT ) and the restriction endonuclease fingerprinting ( REF ) method were used and compared for their detection efficiency , identifying 76 % and 60 % of the mutations , respectively .
### Output Text: | Both the protein truncation test ( PTT ) and the restriction endonuclease fingerprinting ( REF ) method were used and compared for their detection efficiency , identifying 76 % and 60 % of the mutations , 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.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Most patients were found to be compound heterozygote .
### Output Text: | Most patients were found to be compound heterozygote . |
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: Seventeen mutations were distinct , of which 10 were not reported previously .
### Output Text: | Seventeen mutations were distinct , of which 10 were not reported previously . |
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 are small deletions or point mutations frequently affecting splice sites .
### Output Text: | Mutations are small deletions or point mutations frequently affecting splice sites . |
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: Moreover , a 16 .
### Output Text: | Moreover , a 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: 7 - kb genomic deletion of the 3 end of the gene , most likely a result of recombination between two LINE elements , was identified .
### Output Text: | 7 - kb genomic deletion of the 3 end of the gene , most likely a result of recombination between two LINE elements , was identified . |
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 most frequently found mutation , identified in three unrelated Turkish A - T individuals , was previously described to be a Turkish A - T founder mutation .
### Output Text: | The most frequently found mutation , identified in three unrelated Turkish <span class="disease">A - T</span> individuals , was previously described to be a Turkish <span class="disease">A - T</span> founder 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.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: The presence of a founder mutation among relatively small ethnic population groups in Western Europe could indicate a high carrier frequency in such communities .
### Output Text: | The presence of a founder mutation among relatively small ethnic population groups in Western Europe could indicate a high carrier frequency in such communities . |
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 patients of Dutch ethnic origin , however , no significant founder effect could be identified .
### Output Text: | In patients of Dutch ethnic origin , however , no significant founder effect could be identified . |
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 observed genetic heterogeneity including the relative high percentage of splice - site mutations had no reflection on the phenotype .
### Output Text: | The observed genetic heterogeneity including the relative high percentage of splice - site mutations had no reflection on the 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: All patients manifested classical A - T and increased cellular radioresistant DNA synthesis .
### Output Text: | All patients manifested classical <span class="disease">A - T</span> and increased cellular radioresistant DNA synthesis . |
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: Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome .
### Output Text: | Determination of the genomic structure of the COL4A4 gene and of novel mutations causing <span class="disease">autosomal recessive Alport syndrome</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: Autosomal recessive Alport syndrome is a progressive hematuric glomerulonephritis characterized by glomerular basement membrane abnormalities and associated with mutations in either the COL4A3 or the COL4A4 gene , which encode the alpha3 and alpha4 type IV collagen chains , respectively .
### Output Text: | <span class="disease">Autosomal recessive Alport syndrome</span> is a progressive <span class="disease">hematuric glomerulonephritis</span> characterized by <span class="disease">glomerular basement membrane abnormalities</span> and associated with mutations in either the COL4A3 or the COL4A4 gene , which encode the alpha3 and alpha4 type IV collagen chains , 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.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: To date , mutation screening in the two genes has been hampered by the lack of genomic structure information .
### Output Text: | To date , mutation screening in the two genes has been hampered by the lack of genomic structure information . |
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 report here the complete characterization of the 48 exons of the COL4A4 gene , a comprehensive gene screen , and the subsequent detection of 10 novel mutations in eight patients diagnosed with autosomal recessive Alport syndrome .
### Output Text: | We report here the complete characterization of the 48 exons of the COL4A4 gene , a comprehensive gene screen , and the subsequent detection of 10 novel mutations in eight patients diagnosed with <span class="disease">autosomal recessive Alport syndrome</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: Furthermore , we identified a glycine to alanine substitution in the collagenous domain that is apparently silent in the heterozygous carriers , in 11 .
### Output Text: | Furthermore , we identified a glycine to alanine substitution in the collagenous domain that is apparently silent in the heterozygous carriers , in 11 . |
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: 5 % of all control individuals , and in one control individual homozygous for this glycine substitution .
### Output Text: | 5 % of all control individuals , and in one control individual homozygous for this glycine substitution . |
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 has been no previous finding of a glycine substitution that is not associated with any obvious phenotype in homozygous individuals .
### Output Text: | There has been no previous finding of a glycine substitution that is not associated with any obvious phenotype in homozygous individuals . |
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: Founder BRCA1 and BRCA2 mutations in French Canadian breast and ovarian cancer families .
### Output Text: | Founder BRCA1 and BRCA2 mutations in French Canadian <span class="disease">breast and ovarian 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.
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Use <span class="disease"> to denote a disease.
### Input Text: We have identified four mutations in each of the breast cancer - susceptibility genes , BRCA1 and BRCA2 , in French Canadian breast cancer and breast / ovarian cancer families from Quebec .
### Output Text: | We have identified four mutations in each of the <span class="disease">breast cancer</span> - susceptibility genes , BRCA1 and BRCA2 , in French Canadian <span class="disease">breast cancer</span> and <span class="disease">breast / ovarian cancer</span> families from Quebec . |
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 identify founder effects , we examined independently ascertained French Canadian cancer families for the distribution of these eight mutations .
### Output Text: | To identify founder effects , we examined independently ascertained French Canadian <span class="disease">cancer</span> families for the distribution of these eight 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: Mutations were found in 41 of 97 families .
### Output Text: | Mutations were found in 41 of 97 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: Six of eight mutations were observed at least twice .
### Output Text: | Six of eight mutations were observed at least twice . |
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 BRCA1 C4446T mutation was the most common mutation found , followed by the BRCA2 8765delAG mutation .
### Output Text: | The BRCA1 C4446T mutation was the most common mutation found , followed by the BRCA2 8765delAG 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.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Together , these mutations were found in 28 of 41 families identified to have a mutation .
### Output Text: | Together , these mutations were found in 28 of 41 families identified to have a 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.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: The odds of detection of any of the four BRCA1 mutations was 18 .
### Output Text: | The odds of detection of any of the four BRCA1 mutations was 18 . |
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: 7x greater if one or more cases of ovarian cancer were also present in the family .
### Output Text: | 7x greater if one or more cases of <span class="disease">ovarian cancer</span> were also present in the 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: The odds of detection of any of the four BRCA2 mutations was 5 .
### Output Text: | The odds of detection of any of the four BRCA2 mutations was 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.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: 3x greater if there were at least five cases of breast cancer in the family .
### Output Text: | 3x greater if there were at least five cases of <span class="disease">breast cancer</span> in the 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: Interestingly , the presence of a breast cancer case < 36 years of age was strongly predictive of the presence of any of the eight mutations screened .
### Output Text: | Interestingly , the presence of a <span class="disease">breast cancer</span> case < 36 years of age was strongly predictive of the presence of any of the eight mutations screened . |
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: Carriers of the same mutation , from different families , shared similar haplotypes , indicating that the mutant alleles were likely to be identical by descent for a mutation in the founder population .
### Output Text: | Carriers of the same mutation , from different families , shared similar haplotypes , indicating that the mutant alleles were likely to be identical by descent for a mutation in the founder 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.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: The identification of common BRCA1 and BRCA2 mutations will facilitate carrier detection in French Canadian breast cancer and breast / ovarian cancer families .
### Output Text: | The identification of common BRCA1 and BRCA2 mutations will facilitate carrier detection in French Canadian <span class="disease">breast cancer</span> and <span class="disease">breast / ovarian 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: Are Dp71 and Dp140 brain dystrophin isoforms related to cognitive impairment in Duchenne muscular dystrophy ?
### Output Text: | Are Dp71 and Dp140 brain dystrophin isoforms related to <span class="disease">cognitive impairment</span> in <span class="disease">Duchenne 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: Molecular study and neuropsychological analysis were performed concurrently on 49 patients with Duchenne muscular dystrophy ( DMD ) in order to find a molecular explanation for the cognitive impairment observed in most DMD patients .
### Output Text: | Molecular study and neuropsychological analysis were performed concurrently on 49 patients with <span class="disease">Duchenne muscular dystrophy</span> ( <span class="disease">DMD</span> ) in order to find a molecular explanation for the <span class="disease">cognitive impairment</span> observed in most <span class="disease">DMD</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: Complete analysis of the dystrophin gene was performed to define the localization of deletions and duplications in relation to the different DMD promoters .
### Output Text: | Complete analysis of the dystrophin gene was performed to define the localization of deletions and duplications in relation to the different <span class="disease">DMD</span> promoters . |
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: Qualitative analysis of the Dp71 transcript and testing for the specific first exon of Dp140 were also carried out .
### Output Text: | Qualitative analysis of the Dp71 transcript and testing for the specific first exon of Dp140 were also carried out . |
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: Neuropsychological analysis assessed verbal and visuospatial intelligence , verbal memory , and reading skills .
### Output Text: | Neuropsychological analysis assessed verbal and visuospatial intelligence , verbal memory , and reading skills . |
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: Comparison of molecular and psychometric findings demonstrated that deletions and duplications that were localized in the distal part of the gene seemed to be preferentially associated with cognitive impairment .
### Output Text: | Comparison of molecular and psychometric findings demonstrated that deletions and duplications that were localized in the distal part of the gene seemed to be preferentially associated with <span class="disease">cognitive impairment</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: Two altered Dp71 transcripts and two deleted Dp140 DNA sequences were found in four patients with severe cerebral dysfunction .
### Output Text: | Two altered Dp71 transcripts and two deleted Dp140 DNA sequences were found in four patients with severe <span class="disease">cerebral dysfunction</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: These findings suggest that some sequences located in the distal part of the gene and , in particular , some DMD isoforms expressed in the brain may be related to the cognitive impairment associated with DMD . .
### Output Text: | These findings suggest that some sequences located in the distal part of the gene and , in particular , some <span class="disease">DMD</span> isoforms expressed in the brain may be related to the <span class="disease">cognitive impairment</span> associated with <span class="disease">DMD</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: I1307K APC and hMLH1 mutations in a non - Jewish family with hereditary non - polyposis colorectal cancer .
### Output Text: | I1307K APC and hMLH1 mutations in a non - Jewish family with <span class="disease">hereditary non - polyposis 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: We describe a French Canadian hereditary non - polyposis colorectal cancer ( HNPCC ) kindred which carries a novel truncating mutation in hMLH1 .
### Output Text: | We describe a French Canadian <span class="disease">hereditary non - polyposis colorectal cancer</span> ( <span class="disease">HNPCC</span> ) kindred which carries a novel truncating mutation in hMLH1 . |
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: Interestingly , the I1307K APC polymorphism , associated with an increased risk of colorectal cancer , is also present in this family .
### Output Text: | Interestingly , the I1307K APC polymorphism , associated with an increased risk of <span class="disease">colorectal cancer</span> , is also present in this 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: The I1307K polymorphism has previously only been identified in individuals of self - reported Ashkenazi Jewish origins .
### Output Text: | The I1307K polymorphism has previously only been identified in individuals of self - reported Ashkenazi Jewish origins . |
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 addition , in this family , there appears to be no relationship between the I1307K polymorphism and the presence or absence of cancer . .
### Output Text: | In addition , in this family , there appears to be no relationship between the I1307K polymorphism and the presence or absence of <span class="disease">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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Use <span class="disease"> to denote a disease.
### Input Text: Identification of a novel mutation of the CPO gene in a Japanese hereditary coproporphyria family .
### Output Text: | Identification of a novel mutation of the CPO gene in a Japanese <span class="disease">hereditary coproporphyria</span> 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: Hereditary coproporphyria ( HCP ) is an autosomal dominant disease characterized by a deficiency of coproporphyrinogen oxidase ( CPO ) caused by a mutation in the CPO gene .
### Output Text: | <span class="disease">Hereditary coproporphyria</span> ( <span class="disease">HCP</span> ) is an <span class="disease">autosomal dominant disease</span> characterized by a <span class="disease">deficiency of coproporphyrinogen oxidase</span> ( CPO ) caused by a mutation in the CPO 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.
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### Input Text: Only 11 mutations of the gene have been reported in HCP patients .
### Output Text: | Only 11 mutations of the gene have been reported in <span class="disease">HCP</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: We report another mutation in a Japanese family .
### Output Text: | We report another mutation in a Japanese family . |
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### Input Text: Polymerase chain reaction - single strand conformational polymorphism and direct sequence analyses demonstrated a C to T substitution in exon 1 of the CPO gene at nucleotide position 85 , which lies in the putative presequence for targeting to mitochondria .
### Output Text: | Polymerase chain reaction - single strand conformational polymorphism and direct sequence analyses demonstrated a C to T substitution in exon 1 of the CPO gene at nucleotide position 85 , which lies in the putative presequence for targeting to mitochondria . |
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### Input Text: This mutation changes the codon for glutamine to a termination codon at amino acid position 29 .
### Output Text: | This mutation changes the codon for glutamine to a termination codon at amino acid position 29 . |
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### Input Text: MaeI restriction analysis showed two other carriers in the family .
### Output Text: | MaeI restriction analysis showed two other carriers in the family . |
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### Input Text: The C - T mutation is located within a recently proposed putative alternative translation initiation codon ( TIC - 1 ) , supporting that TIC - 1 is the real TIC rather than TIC - 2 . .
### Output Text: | The C - T mutation is located within a recently proposed putative alternative translation initiation codon ( TIC - 1 ) , supporting that TIC - 1 is the real TIC rather than TIC - 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: Human complement factor H deficiency associated with hemolytic uremic syndrome .
### Output Text: | <span class="disease">Human complement factor H deficiency</span> associated with <span class="disease">hemolytic uremic syndrome</span> . |
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### Input Text: This study reports on six cases of deficiency in the human complement regulatory protein Factor H ( FH ) in the context of an acute renal disease .
### Output Text: | This study reports on six cases of <span class="disease">deficiency in the human complement regulatory protein Factor H</span> ( FH ) in the context of an <span class="disease">acute renal disease</span> . |
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### Input Text: Five of the cases were observed in children presenting with idiopathic hemolytic uremic syndrome ( HUS ) .
### Output Text: | Five of the cases were observed in children presenting with idiopathic <span class="disease">hemolytic uremic syndrome</span> ( <span class="disease">HUS</span> ) . |
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### Input Text: Two of the children exhibited a homozygous deficiency characterized by the absence of the 150 - kD form of Factor H and the presence , upon immunoblotting , of the 42 - kD Factor H - like protein 1 ( FHL - 1 ) and other FH - related protein ( FHR ) bands .
### Output Text: | Two of the children exhibited a homozygous deficiency characterized by the absence of the 150 - kD form of Factor H and the presence , upon immunoblotting , of the 42 - kD Factor H - like protein 1 ( FHL - 1 ) and other FH - related protein ( FHR ) bands . |
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### Input Text: Southern blot and PCR analysis of DNA of one patient with homozygous deficiency ruled out the presence of a large deletion of the FH gene as the underlying defect for the deficiency .
### Output Text: | Southern blot and PCR analysis of DNA of one patient with homozygous deficiency ruled out the presence of a large deletion of the FH gene as the underlying defect for the deficiency . |
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### Input Text: The other four children presented with heterozygous deficiency and exhibited a normal immunoblotting pattern of proteins of the FH family .
### Output Text: | The other four children presented with heterozygous deficiency and exhibited a normal immunoblotting pattern of proteins of the FH 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: Factor H deficiency is the only complement deficiency associated with HUS .
### Output Text: | <span class="disease">Factor H deficiency</span> is the only <span class="disease">complement deficiency</span> associated with <span class="disease">HUS</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: These observations suggest a role for FH and / or FH receptors in the pathogenesis of idiopathic HUS . .
### Output Text: | These observations suggest a role for FH and / or FH receptors in the pathogenesis of idiopathic <span class="disease">HUS</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: Further evidence for a major ancient mutation underlying myotonic dystrophy from linkage disequilibrium studies in the Japanese population .
### Output Text: | Further evidence for a major ancient mutation underlying <span class="disease">myotonic dystrophy</span> from linkage disequilibrium studies in the Japanese population . |
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### Input Text: The myotonic dystrophy ( DM ) mutation is an unstable ( CTG ) n repeat , present at a copy number of 5 - 37 repeats on normal chromosomes but amplified to 50 - 3000 copies on DM chromosomes .
### Output Text: | The <span class="disease">myotonic dystrophy</span> ( <span class="disease">DM</span> ) mutation is an unstable ( CTG ) n repeat , present at a copy number of 5 - 37 repeats on normal chromosomes but amplified to 50 - 3000 copies on <span class="disease">DM</span> chromosomes . |
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### Input Text: Previous findings in Caucasian populations of a DM founder chromosome raise a question about the molecular events involved in the expansion mutation .
### Output Text: | Previous findings in Caucasian populations of a <span class="disease">DM</span> founder chromosome raise a question about the molecular events involved in the expansion 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: To investigate whether a founder chromosome for the DM mutation exists in the Japanese population , we genotyped families using polymorphic markers near the ( CTG ) n repeat region and constructed haplotypes .
### Output Text: | To investigate whether a founder chromosome for the <span class="disease">DM</span> mutation exists in the Japanese population , we genotyped families using polymorphic markers near the ( CTG ) n repeat region and constructed haplotypes . |
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 different haplotypes were found and DM alleles were always haplotype A .
### Output Text: | Six different haplotypes were found and <span class="disease">DM</span> alleles were always haplotype A . |
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: To find an origin of the ( CTG ) n repeat mutation and to investigate the mechanism of the expansion mutation in the Japanese population we have studied 90 Japanese DM families comprising 190 affected and 130 unaffected members .
### Output Text: | To find an origin of the ( CTG ) n repeat mutation and to investigate the mechanism of the expansion mutation in the Japanese population we have studied 90 Japanese <span class="disease">DM</span> families comprising 190 affected and 130 unaffected members . |
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 results suggest that a few common ancestral mutations in both Caucasian and Japanese populations have originated by expansion of an ancestral n = 5 repeat to n = 19 - 37 copies .
### Output Text: | The results suggest that a few common ancestral mutations in both Caucasian and Japanese populations have originated by expansion of an ancestral n = 5 repeat to n = 19 - 37 copies . |
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 support multistep models of triplet repeat expansion that have been proposed for both DM and Friedreichs ataxia . .
### Output Text: | These data support multistep models of triplet repeat expansion that have been proposed for both <span class="disease">DM</span> and <span class="disease">Friedreichs ataxia</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 molecular basis of C6 deficiency in the western Cape , South Africa .
### Output Text: | The molecular basis of <span class="disease">C6 deficiency</span> in the western Cape , South Africa . |
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### Input Text: Deficiency of the sixth component of human complement ( C6 ) has been reported in a number of families from the western Cape , South Africa .
### Output Text: | <span class="disease">Deficiency of the sixth component of human complement</span> ( C6 ) has been reported in a number of families from the western Cape , South Africa . |
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: Meningococcal disease is endemic in the Cape and almost all pedigrees of total C6 deficiency ( C6Q0 ) have been ascertained because of recurrent disease .
### Output Text: | <span class="disease">Meningococcal disease</span> is endemic in the Cape and almost all pedigrees of total <span class="disease">C6 deficiency</span> ( C6Q0 ) have been ascertained because of recurrent 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 have sequenced the expressed exons of the C6 gene from selected cases and have found three molecular defects leading to total deficiency 879delG , which is the common defect in the Cape and hitherto unreported , and 1195delC and 1936delG , which have been previously reported in African - Americans .
### Output Text: | We have sequenced the expressed exons of the C6 gene from selected cases and have found three molecular defects leading to total deficiency 879delG , which is the common defect in the Cape and hitherto unreported , and 1195delC and 1936delG , which have been previously reported in African - Americans . |
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### Input Text: We also show that the 879delG and 1195delC defects are associated with characteristic C6 / C7 region DNA marker haplotypes , although small variations were observed .
### Output Text: | We also show that the 879delG and 1195delC defects are associated with characteristic C6 / C7 region DNA marker haplotypes , although small variations were observed . |
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 1936delG defect was observed only once in the Cape , but its associated haplotype could be deduced .
### Output Text: | The 1936delG defect was observed only once in the Cape , but its associated haplotype could be deduced . |
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### Input Text: The data from the haplotypes indicate that these three molecular defects account for the defects in all the 38 unrelated C6Q0 individuals we have studied from the Cape .
### Output Text: | The data from the haplotypes indicate that these three molecular defects account for the defects in all the 38 unrelated C6Q0 individuals we have studied from the Cape . |
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 also observed the 879delG defect in two Dutch C6 - deficient kindreds , but the 879delG defect in the Cape probably did not come from The Netherlands . .
### Output Text: | We have also observed the 879delG defect in two Dutch <span class="disease">C6 - deficient</span> kindreds , but the 879delG defect in the Cape probably did not come from The Netherlands . . |
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: Complement C7 deficiency : seven further molecular defects and their associated marker haplotypes .
### Output Text: | <span class="disease">Complement C7 deficiency</span> : seven further molecular defects and their associated marker haplotypes . |
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 further molecular bases of C7 deficiency are described .
### Output Text: | Seven further molecular bases of <span class="disease">C7 deficiency</span> are described . |
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### Input Text: All these new molecular defects involve single - nucleotide events , deletions and substitutions , some of which alter splice sites , and others codons .
### Output Text: | All these new molecular defects involve single - nucleotide events , deletions and substitutions , some of which alter splice sites , and others 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.
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### Input Text: They are distributed along the C7 gene , but predominantly towards the 3 end .
### Output Text: | They are distributed along the C7 gene , but predominantly towards the 3 end . |
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### Input Text: All were found in compound heterozygous individuals .
### Output Text: | All were found in compound heterozygous individuals . |
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### Input Text: The C6 / C7 marker haplotypes associated with most C7 defects are tabulated . .
### Output Text: | The C6 / C7 marker haplotypes associated with most <span class="disease">C7 defects</span> are tabulated . . |
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 genome - wide search for chromosomal loci linked to mental health wellness in relatives at high risk for bipolar affective disorder among the Old Order Amish .
### Output Text: | A genome - wide search for chromosomal loci linked to mental health wellness in relatives at high risk for <span class="disease">bipolar affective disorder</span> among the Old Order Amish . |
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: Bipolar affective disorder ( BPAD ; manic - depressive illness ) is characterized by episodes of mania and / or hypomania interspersed with periods of depression .
### Output Text: | <span class="disease">Bipolar affective disorder</span> ( <span class="disease">BPAD</span> ; <span class="disease">manic - depressive illness</span> ) is characterized by episodes of <span class="disease">mania</span> and / or <span class="disease">hypomania</span> interspersed with periods of <span class="disease">depression</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: Compelling evidence supports a significant genetic component in the susceptibility to develop BPAD .
### Output Text: | Compelling evidence supports a significant genetic component in the susceptibility to develop <span class="disease">BPAD</span> . |