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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: Lorenzos Oil should be given in the early stage . .
### Output Text: | Lorenzos Oil should be given in the early stage . . |
In the sentence extracted from 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: Nonsense mutation in exon 4 of human complement C9 gene is the major cause of Japanese complement C9 deficiency .
### Output Text: | Nonsense mutation in exon 4 of human complement C9 gene is the major cause of Japanese <span class="disease">complement C9 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.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Deficiency of the ninth component of human complement ( C9 ) is the most common complement deficiency in Japan but is rare in other countries .
### Output Text: | <span class="disease">Deficiency of the ninth component of human complement</span> ( C9 ) is the most common <span class="disease">complement deficiency</span> in Japan but is rare in other countries . |
In the sentence extracted from 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 studied the molecular basis of C9 deficiency in four Japanese C9 - deficient patients who had suffered from meningococcal meningitis .
### Output Text: | We studied the molecular basis of <span class="disease">C9 deficiency</span> in four Japanese <span class="disease">C9 - deficient</span> patients who had suffered from <span class="disease">meningococcal meningitis</span> . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Direct sequencing of amplified C9 cDNA and DNA revealed a nonsense substitution ( CGA - - > TGA ) at codon 95 in exon 4 in the four C9 - deficient individuals .
### Output Text: | Direct sequencing of amplified C9 cDNA and DNA revealed a nonsense substitution ( CGA - - > TGA ) at codon 95 in exon 4 in the four <span class="disease">C9 - deficient</span> 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.
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Use <span class="disease"> to denote a disease.
### Input Text: An allele - specific polymerase chain reaction system designed to detect exclusively only one of the normal and mutant alleles indicated that all the four patients were homozygous for the mutation in exon 4 and that the parents of patient 2 were heterozygous .
### Output Text: | An allele - specific polymerase chain reaction system designed to detect exclusively only one of the normal and mutant alleles indicated that all the four patients were homozygous for the mutation in exon 4 and that the parents of patient 2 were heterozygous . |
In the sentence extracted from 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 common mutation at codon 95 in exon 4 might be responsible for most Japanese C9 deficiency . .
### Output Text: | The common mutation at codon 95 in exon 4 might be responsible for most Japanese <span class="disease">C9 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.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: BRCA1 required for transcription - coupled repair of oxidative DNA damage .
### Output Text: | BRCA1 required for transcription - coupled repair of oxidative DNA damage . |
In the sentence extracted from 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 breast and ovarian cancer susceptibility gene BRCA1 encodes a zinc finger protein of unknown function .
### Output Text: | The <span class="disease">breast and ovarian cancer</span> susceptibility gene BRCA1 encodes a zinc finger protein of unknown function . |
In the sentence extracted from 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: Association of the BRCA1 protein with the DNA repair protein Rad51 and changes in the phosphorylation and cellular localization of the protein after exposure to DNA - damaging agents are consistent with a role for BRCA1 in DNA repair .
### Output Text: | Association of the BRCA1 protein with the DNA repair protein Rad51 and changes in the phosphorylation and cellular localization of the protein after exposure to DNA - damaging agents are consistent with a role for BRCA1 in DNA repair . |
In the sentence extracted from 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 , it is shown that mouse embryonic stem cells deficient in BRCA1 are defective in the ability to carry out transcription - coupled repair of oxidative DNA damage , and are hypersensitive to ionizing radiation and hydrogen peroxide .
### Output Text: | Here , it is shown that mouse embryonic stem cells <span class="disease">deficient in BRCA1</span> are defective in the ability to carry out transcription - coupled repair of oxidative DNA damage , and are hypersensitive to ionizing radiation and hydrogen peroxide . |
In the sentence extracted from 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 suggest that BRCA1 participates , directly or indirectly , in transcription - coupled repair of oxidative DNA damage . .
### Output Text: | These results suggest that BRCA1 participates , directly or indirectly , in transcription - coupled repair of oxidative DNA damage . . |
In the sentence extracted from 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: Truncation mutations in the transactivation region of PAX6 result in dominant - negative mutants .
### Output Text: | Truncation mutations in the transactivation region of PAX6 result in dominant - negative mutants . |
In the sentence extracted from 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: PAX6 is a transcription factor with two DNA - binding domains ( paired box and homeobox ) and a proline - serine - threonine ( PST ) - rich transactivation domain .
### Output Text: | PAX6 is a transcription factor with two DNA - binding domains ( paired box and homeobox ) and a proline - serine - threonine ( PST ) - rich transactivation domain . |
In the sentence extracted from 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: PAX6 regulates eye development in animals ranging from jellyfish to Drosophila to humans .
### Output Text: | PAX6 regulates eye development in animals ranging from jellyfish to Drosophila to humans . |
In the sentence extracted from 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 mutations in the human PAX6 gene result in various phenotypes , including aniridia , Peters anomaly , autosomal dominant keratitis , and familial foveal dysplasia .
### Output Text: | Heterozygous mutations in the human PAX6 gene result in various phenotypes , including <span class="disease">aniridia</span> , <span class="disease">Peters anomaly</span> , <span class="disease">autosomal dominant keratitis</span> , and <span class="disease">familial foveal dysplasia</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 believed that the mutated allele of PAX6 produces an inactive protein and aniridia is caused due to genetic haploinsufficiency .
### Output Text: | It is believed that the mutated allele of PAX6 produces an inactive protein and <span class="disease">aniridia</span> is caused due to genetic haploinsufficiency . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: However , several truncation mutations have been found to occur in the C - terminal half of PAX6 in patients with Aniridia resulting in mutant proteins that retain the DNA - binding domains but have lost most of the transactivation domain .
### Output Text: | However , several truncation mutations have been found to occur in the C - terminal half of PAX6 in patients with <span class="disease">Aniridia</span> resulting in mutant proteins that retain the DNA - binding domains but have lost most of the transactivation domain . |
In the sentence extracted from 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 not clear whether such mutants really behave as loss - of - function mutants as predicted by haploinsufficiency .
### Output Text: | It is not clear whether such mutants really behave as loss - of - function mutants as predicted by haploinsufficiency . |
In the sentence extracted from 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: Contrary to this theory , our data showed that these mutants are dominant - negative in transient transfection assays when they are coexpressed with wild - type PAX6 .
### Output Text: | Contrary to this theory , our data showed that these mutants are dominant - negative in transient transfection assays when they are coexpressed with wild - type PAX6 . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: We found that the dominant - negative effects result from the enhanced DNA binding ability of these mutants .
### Output Text: | We found that the dominant - negative effects result from the enhanced DNA binding ability of these mutants . |
In the sentence extracted from 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: Kinetic studies of binding and dissociation revealed that various truncation mutants have 3 - 5 - fold higher affinity to various DNA - binding sites when compared with the wild - type PAX6 .
### Output Text: | Kinetic studies of binding and dissociation revealed that various truncation mutants have 3 - 5 - fold higher affinity to various DNA - binding sites when compared with the wild - type PAX6 . |
In the sentence extracted from 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 provide a new insight into the role of mutant PAX6 in causing aniridia . .
### Output Text: | These results provide a new insight into the role of mutant PAX6 in causing <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: Reversal of severe hypertrophic cardiomyopathy and excellent neuropsychologic outcome in very - long - chain acyl - coenzyme A dehydrogenase deficiency .
### Output Text: | Reversal of severe <span class="disease">hypertrophic cardiomyopathy</span> and excellent neuropsychologic outcome in <span class="disease">very - long - chain acyl - coenzyme A dehydrogenase 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: Very - long - chain acyl - coenzyme A dehydrogenase ( VLCAD ) deficiency is a disorder of fatty acid beta oxidation that reportedly has high rates of morbidity and mortality .
### Output Text: | <span class="disease">Very - long - chain acyl - coenzyme A dehydrogenase ( VLCAD ) deficiency</span> is a disorder of fatty acid beta oxidation that reportedly has high rates of morbidity and mortality . |
In the sentence extracted from 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 the outcome of a 5 - year - old girl with VLCAD deficiency who was first seen at 5 months of age with severe hypertrophic cardiomyopathy , hepatomegaly , encephalopathy , and hypotonia .
### Output Text: | We describe the outcome of a 5 - year - old girl with <span class="disease">VLCAD deficiency</span> who was first seen at 5 months of age with severe <span class="disease">hypertrophic cardiomyopathy</span> , <span class="disease">hepatomegaly</span> , <span class="disease">encephalopathy</span> , and <span class="disease">hypotonia</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: Biochemical studies indicated VLCAD deficiency caused by a stable yet inactive enzyme .
### Output Text: | Biochemical studies indicated <span class="disease">VLCAD deficiency</span> caused by a stable yet inactive enzyme . |
In the sentence extracted from 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 genetic analysis of her VLCAD gene revealed a T1372C ( F458L ) missense mutation and a 1668 ACAG 1669 splice site mutation .
### Output Text: | Molecular genetic analysis of her VLCAD gene revealed a T1372C ( F458L ) missense mutation and a 1668 ACAG 1669 splice site 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: After initial treatment with intravenous glucose and carnitine , the patient has thrived on a low - fat diet supplemented with medium - chain triglyceride oil and carnitine and avoidance of fasting .
### Output Text: | After initial treatment with intravenous glucose and carnitine , the patient has thrived on a low - fat diet supplemented with medium - chain triglyceride oil and carnitine and avoidance of fasting . |
In the sentence extracted from 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: Her ventricular hypertrophy resolved significantly over 1 year , and cognitively , she is in the superior range for age .
### Output Text: | Her ventricular hypertrophy resolved significantly over 1 year , and cognitively , she is in the superior range for age . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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Use <span class="disease"> to denote a disease.
### Input Text: Clinical recognition of VLCAD deficiency is important because it is one of the few directly treatable causes of cardiomyopathy in children . .
### Output Text: | Clinical recognition of <span class="disease">VLCAD deficiency</span> is important because it is one of the few directly treatable causes of <span class="disease">cardiomyopathy</span> in children . . |
In the sentence extracted from 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: Cloning of a novel member of the low - density lipoprotein receptor family .
### Output Text: | Cloning of a novel member of the low - density lipoprotein receptor 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: A gene encoding a novel transmembrane protein was identified by DNA sequence analysis within the insulin - dependent diabetes mellitus ( IDDM ) locus IDDM4 on chromosome 11q13 .
### Output Text: | A gene encoding a novel transmembrane protein was identified by DNA sequence analysis within the <span class="disease">insulin - dependent diabetes mellitus</span> ( <span class="disease">IDDM</span> ) locus IDDM4 on chromosome 11q13 . |
In the sentence extracted from 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: Based on its chromosomal position , this gene is a candidate for conferring susceptibility to diabetes .
### Output Text: | Based on its chromosomal position , this gene is a candidate for conferring susceptibility to <span class="disease">diabetes</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 gene , termed low - density lipoprotein receptor related protein 5 ( LRP5 ) , encodes a protein of 1615 amino acids that contains conserved modules which are characteristic of the low - density lipoprotein ( LDL ) receptor family .
### Output Text: | The gene , termed low - density lipoprotein receptor related protein 5 ( LRP5 ) , encodes a protein of 1615 amino acids that contains conserved modules which are characteristic of the low - density lipoprotein ( LDL ) receptor family . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: These modules include a putative signal peptide for protein export , four epidermal growth factor ( EGF ) repeats with associated spacer domains , three LDL - receptor ( LDLR ) repeats , a single transmembrane spanning domain , and a cytoplasmic domain .
### Output Text: | These modules include a putative signal peptide for protein export , four epidermal growth factor ( EGF ) repeats with associated spacer domains , three LDL - receptor ( LDLR ) repeats , a single transmembrane spanning domain , and a cytoplasmic domain . |
In the sentence extracted from 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 encoded protein has a unique organization of EGF and LDLR repeats ; therefore , LRP5 likely represents a new category of the LDLR family .
### Output Text: | The encoded protein has a unique organization of EGF and LDLR repeats ; therefore , LRP5 likely represents a new category of the LDLR 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: Both human and mouse LRP5 cDNAs have been isolated and the encoded mature proteins are 95 % identical , indicating a high degree of evolutionary conservation . .
### Output Text: | Both human and mouse LRP5 cDNAs have been isolated and the encoded mature proteins are 95 % identical , indicating a high degree of evolutionary conservation . . |
In the sentence extracted from 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 APC variants I1307K and E1317Q are associated with colorectal tumors , but not always with a family history .
### Output Text: | The <span class="disease">APC</span> variants I1307K and E1317Q are associated with <span class="disease">colorectal tumors</span> , but not always with a family history . |
In the sentence extracted from 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: Classical familial adenomatous polyposis ( FAP ) is a high - penetrance autosomal dominant disease that predisposes to hundreds or thousands of colorectal adenomas and carcinoma and that results from truncating mutations in the APC gene .
### Output Text: | Classical <span class="disease">familial adenomatous polyposis</span> ( <span class="disease">FAP</span> ) is a high - penetrance <span class="disease">autosomal dominant disease</span> that predisposes to hundreds or thousands of <span class="disease">colorectal adenomas and carcinoma</span> and that results from truncating mutations in the <span class="disease">APC</span> 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: A variant of FAP is attenuated adenomatous polyposis coli , which results from germ - line mutations in the 5 and 3 regions of the APC gene .
### Output Text: | A variant of <span class="disease">FAP</span> is <span class="disease">attenuated adenomatous polyposis coli</span> , which results from germ - line mutations in the 5 and 3 regions of the <span class="disease">APC</span> 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: Attenuated adenomatous polyposis coli patients have " multiple " colorectal adenomas ( typically fewer than 100 ) without the florid phenotype of classical FAP .
### Output Text: | <span class="disease">Attenuated adenomatous polyposis coli</span> patients have " multiple " <span class="disease">colorectal adenomas</span> ( typically fewer than 100 ) without the florid phenotype of classical <span class="disease">FAP</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: Another group of patients with multiple adenomas has no mutations in the APC gene , and their phenotype probably results from variation at a locus , or loci , elsewhere in the genome .
### Output Text: | Another group of patients with multiple <span class="disease">adenomas</span> has no mutations in the <span class="disease">APC</span> gene , and their phenotype probably results from variation at a locus , or loci , elsewhere in the genome . |
In the sentence extracted from 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: Recently , however , a missense variant of APC ( I1307K ) was described that confers an increased risk of colorectal tumors , including multiple adenomas , in Ashkenazim .
### Output Text: | Recently , however , a missense variant of <span class="disease">APC</span> ( I1307K ) was described that confers an increased risk of <span class="disease">colorectal tumors</span> , including multiple <span class="disease">adenomas</span> , in Ashkenazim . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: We have studied a set of 164 patients with multiple colorectal adenomas and / or carcinoma and analyzed codons 1263 - 1377 ( exon 15G ) of the APC gene for germ - line variants .
### Output Text: | We have studied a set of 164 patients with multiple <span class="disease">colorectal adenomas and / or carcinoma</span> and analyzed codons 1263 - 1377 ( exon 15G ) of the <span class="disease">APC</span> gene for germ - line variants . |
In the sentence extracted from 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: Three patients with the I1307K allele were detected , each of Ashkenazi descent .
### Output Text: | Three patients with the I1307K allele were detected , each of Ashkenazi descent . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Four patients had a germ - line E1317Q missense variant of APC that was not present in controls ; one of these individuals had an unusually large number of metaplastic polyps of the colorectum .
### Output Text: | Four patients had a germ - line E1317Q missense variant of APC that was not present in controls ; one of these individuals had an unusually large number of <span class="disease">metaplastic polyps of the colorectum</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: There is increasing evidence that there exist germ - line variants of the APC gene that predispose to the development of multiple colorectal adenomas and carcinoma , but without the florid phenotype of classical FAP , and possibly with importance for colorectal cancer risk in the general population . .
### Output Text: | There is increasing evidence that there exist germ - line variants of the <span class="disease">APC</span> gene that predispose to the development of multiple <span class="disease">colorectal adenomas and carcinoma</span> , but without the florid phenotype of classical <span class="disease">FAP</span> , and possibly with importance for <span class="disease">colorectal cancer</span> risk in the general population . . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Genomic structure of the human congenital chloride diarrhea ( CLD ) gene .
### Output Text: | Genomic structure of the human <span class="disease">congenital chloride diarrhea</span> ( <span class="disease">CLD</span> ) 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: Congenital chloride diarrhea ( CLD ) is caused by mutations in a gene which encodes an intestinal anion transporter .
### Output Text: | <span class="disease">Congenital chloride diarrhea</span> ( <span class="disease">CLD</span> ) is caused by mutations in a gene which encodes an intestinal anion transporter . |
In the sentence extracted from 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 here the complete genomic organization of the human CLD gene which spans approximately 39kb , and comprises 21 exons .
### Output Text: | We report here the complete genomic organization of the human <span class="disease">CLD</span> gene which spans approximately 39kb , and comprises 21 exons . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: All exon / intron boundaries conform to the GT / AG rule .
### Output Text: | All exon / intron boundaries conform to the GT / AG rule . |
In the sentence extracted from 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: An analysis of the putative promoter region sequence shows a putative TATA box and predicts multiple transcription factor binding sites .
### Output Text: | An analysis of the putative promoter region sequence shows a putative TATA box and predicts multiple transcription factor binding 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.
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### Input Text: The genomic structure was determined using DNA from several sources including multiple large - insert libaries and genomic DNA from Finnish CLD patients and controls .
### Output Text: | The genomic structure was determined using DNA from several sources including multiple large - insert libaries and genomic DNA from Finnish <span class="disease">CLD</span> patients and 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: Exon - specific primers developed in this study will facilitate mutation screening studies of patients with the disease .
### Output Text: | Exon - specific primers developed in this study will facilitate mutation screening studies of patients with 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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Use <span class="disease"> to denote a disease.
### Input Text: Genomic sequencing of a BAC clone H _ RG364P16 revealed the presence of another , highly homologous gene 3 of the CLD gene , with a similar genomic structure , recently identified as the Pendred syndrome gene ( PDS ) . .
### Output Text: | Genomic sequencing of a BAC clone H _ RG364P16 revealed the presence of another , highly homologous gene 3 of the <span class="disease">CLD</span> gene , with a similar genomic structure , recently identified as the <span class="disease">Pendred syndrome</span> gene ( <span class="disease">PDS</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 APCI1307K allele and cancer risk in a community - based study of Ashkenazi Jews .
### Output Text: | The APCI1307K allele and <span class="disease">cancer</span> risk in a community - based study of Ashkenazi 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: Mutations in APC are classically associated with familial adenomatous polyposis ( FAP ) , a highly penetrant autosomal dominant disorder characterized by multiple intestinal polyps and , without surgical intervention , the development of colorectal cancer ( CRC ) .
### Output Text: | Mutations in APC are classically associated with <span class="disease">familial adenomatous polyposis</span> ( <span class="disease">FAP</span> ) , a highly penetrant <span class="disease">autosomal dominant disorder</span> characterized by multiple intestinal <span class="disease">polyps</span> and , without surgical intervention , the development of <span class="disease">colorectal cancer</span> ( <span class="disease">CRC</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: APC is a tumour - suppressor gene , and somatic loss occurs in tumours .
### Output Text: | <span class="disease">APC</span> is a tumour - suppressor gene , and somatic loss occurs in <span class="disease">tumours</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 germline T - to - A transversion responsible for the APC I1307K allele converts the wild - type sequence to a homopolymer tract ( A8 ) that is genetically unstable and prone to somatic mutation .
### Output Text: | The germline T - to - A transversion responsible for the APC I1307K allele converts the wild - type sequence to a homopolymer tract ( A8 ) that is genetically unstable and prone to somatic mutation . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: The I1307K allele was found in 6 .
### Output Text: | The I1307K allele 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 unselected Ashkenazi Jews and higher proportions of Ashkenazim with family or personal histories of CRC ( ref . 2 ) .
### Output Text: | 1 % of unselected Ashkenazi Jews and higher proportions of Ashkenazim with family or personal histories of <span class="disease">CRC</span> ( ref . 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: To evaluate the role of I1307K in cancer , we genotyped 5 , 081 Ashkenazi volunteers in a community survey .
### Output Text: | To evaluate the role of I1307K in <span class="disease">cancer</span> , we genotyped 5 , 081 Ashkenazi volunteers in a community survey . |
In the sentence extracted from 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: Risk of developing colorectal , breast and other cancers were compared between genotyped I1307K carriers and non - carriers and their first - degree relatives .
### Output Text: | Risk of developing <span class="disease">colorectal , breast and other cancers</span> were compared between genotyped I1307K carriers and non - carriers and their first - degree relatives . |
In the sentence extracted from 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: Sperm DNA analysis in a Friedreich ataxia premutation carrier suggests both meiotic and mitotic expansion in the FRDA gene .
### Output Text: | Sperm DNA analysis in a <span class="disease">Friedreich ataxia</span> premutation carrier suggests both meiotic and mitotic expansion in the <span class="disease">FRDA</span> 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: Friedreich ataxia is usually caused by an expansion of a GAA trinucleotide repeat in intron 1 of the FRDA gene .
### Output Text: | <span class="disease">Friedreich ataxia</span> is usually caused by an expansion of a GAA trinucleotide repeat in intron 1 of the <span class="disease">FRDA</span> 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: Occasionally , a fully expanded allele has been found to arise from a premutation of 100 or less triplet repeats .
### Output Text: | Occasionally , a fully expanded allele has been found to arise from a premutation of 100 or less triplet repeats . |
In the sentence extracted from 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 examined the sperm DNA of a premutation carrier .
### Output Text: | We have examined the sperm DNA of a premutation carrier . |
In the sentence extracted from 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 mans leucocyte DNA showed one normal allele and one allele of approximately 100 repeats .
### Output Text: | This mans leucocyte DNA showed one normal allele and one allele of approximately 100 repeats . |
In the sentence extracted from 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: His sperm showed an expanded allele in a tight range centering on a size of approximately 320 trinucleotide repeats .
### Output Text: | His sperm showed an expanded allele in a tight range centering on a size of approximately 320 trinucleotide repeats . |
In the sentence extracted from 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: His affected son has repeat sizes of 1040 and 540 .
### Output Text: | His affected son has repeat sizes of 1040 and 540 . |
In the sentence extracted from 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 suggest that expansion occurs in two stages , the first during meiosis followed by a second mitotic expansion .
### Output Text: | These data suggest that expansion occurs in two stages , the first during meiosis followed by a second mitotic expansion . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: We also show that in all informative carrier father to affected child transmissions , with the notable exception of the premutation carrier , the expansion size decreases . .
### Output Text: | We also show that in all informative carrier father to affected child transmissions , with the notable exception of the premutation carrier , the expansion size decreases . . |
In the sentence extracted from 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 R496H mutation of arylsulfatase A does not cause metachromatic leukodystrophy .
### Output Text: | The R496H mutation of arylsulfatase A does not cause <span class="disease">metachromatic leukodystrophy</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: Deficiency of arylsulfatase A ( ARSA ) enzyme activity causes metachromatic leukodystrophy ( MLD ) .
### Output Text: | <span class="disease">Deficiency of arylsulfatase A</span> ( ARSA ) enzyme activity causes <span class="disease">metachromatic leukodystrophy</span> ( <span class="disease">MLD</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: A number of ARSA gene mutations responsible for MLD have been identified .
### Output Text: | A number of ARSA gene mutations responsible for <span class="disease">MLD</span> have been 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.
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### Input Text: Recently , the R496H mutation of ARSA was proposed to be a cause of MLD ( Draghia et al . , 1997 ) .
### Output Text: | Recently , the R496H mutation of ARSA was proposed to be a cause of <span class="disease">MLD</span> ( Draghia et al . , 1997 ) . |
In the sentence extracted from 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 investigated the R496H mutation and found this mutation at a relatively high frequency in an African American population ( f = 0 . 09 , n = 61 subjects ) .
### Output Text: | We have investigated the R496H mutation and found this mutation at a relatively high frequency in an African American population ( f = 0 . 09 , n = 61 subjects ) . |
In the sentence extracted from 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 ARSA enzyme activity in subjects with and without the R496H mutation was determined and found to be normal .
### Output Text: | The ARSA enzyme activity in subjects with and without the R496H mutation was determined and found to be normal . |
In the sentence extracted from 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 therefore concluded that the R496H mutation of ARSA does not negatively influence the activity of ARSA and is not a cause of MLD
### Output Text: | It is therefore concluded that the R496H mutation of ARSA does not negatively influence the activity of ARSA and is not a cause of <span class="disease">MLD</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: Down - regulation of transmembrane carbonic anhydrases in renal cell carcinoma cell lines by wild - type von Hippel - Lindau transgenes .
### Output Text: | Down - regulation of transmembrane carbonic anhydrases in <span class="disease">renal cell carcinoma</span> cell lines by wild - type <span class="disease">von Hippel - Lindau</span> transgenes . |
In the sentence extracted from 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 discover genes involved in von Hippel - Lindau ( VHL ) - mediated carcinogenesis , we used renal cell carcinoma cell lines stably transfected with wild - type VHL - expressing transgenes .
### Output Text: | To discover genes involved in <span class="disease">von Hippel - Lindau</span> ( <span class="disease">VHL</span> ) - mediated carcinogenesis , we used <span class="disease">renal cell carcinoma</span> cell lines stably transfected with wild - type VHL - expressing transgenes . |
In the sentence extracted from 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: Large - scale RNA differential display technology applied to these cell lines identified several differentially expressed genes , including an alpha carbonic anhydrase gene , termed CA12 .
### Output Text: | Large - scale RNA differential display technology applied to these cell lines identified several differentially expressed genes , including an alpha carbonic anhydrase gene , termed CA12 . |
In the sentence extracted from 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 deduced protein sequence was classified as a one - pass transmembrane CA possessing an apparently intact catalytic domain in the extracellular CA module .
### Output Text: | The deduced protein sequence was classified as a one - pass transmembrane CA possessing an apparently intact catalytic domain in the extracellular CA module . |
In the sentence extracted from 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: Reintroduced wild - type VHL strongly inhibited the overexpression of the CA12 gene in the parental renal cell carcinoma cell lines .
### Output Text: | Reintroduced wild - type <span class="disease">VHL</span> strongly inhibited the overexpression of the CA12 gene in the parental <span class="disease">renal cell carcinoma</span> cell lines . |
In the sentence extracted from 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: Similar results were obtained with CA9 , encoding another transmembrane CA with an intact catalytic domain .
### Output Text: | Similar results were obtained with CA9 , encoding another transmembrane CA with an intact catalytic domain . |
In the sentence extracted from 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 both domains of the VHL protein contribute to regulation of CA12 expression , the elongin binding domain alone could effectively regulate CA9 expression .
### Output Text: | Although both domains of the <span class="disease">VHL</span> protein contribute to regulation of CA12 expression , the elongin binding domain alone could effectively regulate CA9 expression . |
In the sentence extracted from 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 mapped CA12 and CA9 loci to chromosome bands 15q22 and 17q21 .
### Output Text: | We mapped CA12 and CA9 loci to chromosome bands 15q22 and 17q21 . |
In the sentence extracted from 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: 2 respectively , regions prone to amplification in some human cancers .
### Output Text: | 2 respectively , regions prone to amplification in some human <span class="disease">cancers</span> . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Additional experiments are needed to define the role of CA IX and CA XII enzymes in the regulation of pH in the extracellular microenvironment and its potential impact on cancer cell growth .
### Output Text: | Additional experiments are needed to define the role of CA IX and CA XII enzymes in the regulation of pH in the extracellular microenvironment and its potential impact on <span class="disease">cancer</span> cell growth . |
In the sentence extracted from 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 gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy ( Wolfram syndrome ) .
### Output Text: | A gene encoding a transmembrane protein is mutated in patients with <span class="disease">diabetes mellitus</span> and <span class="disease">optic atrophy</span> ( <span class="disease">Wolfram 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.
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### Input Text: Wolfram syndrome ( WFS ; OMIM 222300 ) is an autosomal recessive neurodegenerative disorder defined by young - onset non - immune insulin - dependent diabetes mellitus and progressive optic atrophy .
### Output Text: | <span class="disease">Wolfram syndrome</span> ( <span class="disease">WFS</span> ; OMIM 222300 ) is an <span class="disease">autosomal recessive neurodegenerative disorder</span> defined by young - onset non - immune <span class="disease">insulin - dependent diabetes mellitus</span> and progressive <span class="disease">optic atrophy</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: Linkage to markers on chromosome 4p was confirmed in five families .
### Output Text: | Linkage to markers on chromosome 4p was confirmed in five 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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### Input Text: On the basis of meiotic recombinants and disease - associated haplotypes , the WFS gene was localized to a BAC / P1 contig of less than 250 kb .
### Output Text: | On the basis of meiotic recombinants and disease - associated haplotypes , the <span class="disease">WFS</span> gene was localized to a BAC / P1 contig of less than 250 kb . |
In the sentence extracted from 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 in a novel gene ( WFS1 ) encoding a putative transmembrane protein were found in all affected individuals in six WFS families , and these mutations were associated with the disease phenotype .
### Output Text: | Mutations in a novel gene ( WFS1 ) encoding a putative transmembrane protein were found in all affected individuals in six <span class="disease">WFS</span> families , and these mutations were associated with the disease phenotype . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: WFS1 appears to function in survival of islet beta - cells and neurons . .
### Output Text: | WFS1 appears to function in survival of islet beta - cells and neurons . . |
In the sentence extracted from 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: Stable interaction between the products of the BRCA1 and BRCA2 tumor suppressor genes in mitotic and meiotic cells .
### Output Text: | Stable interaction between the products of the BRCA1 and BRCA2 <span class="disease">tumor</span> suppressor genes in mitotic and meiotic 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.
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### Input Text: BRCA1 and BRCA2 account for most cases of familial , early onset breast and / or ovarian cancer and encode products that each interact with hRAD51 .
### Output Text: | BRCA1 and BRCA2 account for most cases of familial , early onset <span class="disease">breast and / or ovarian cancer</span> and encode products that each interact with hRAD51 . |
In the sentence extracted from 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 presented here show that BRCA1 and BRCA2 coexist in a biochemical complex and colocalize in subnuclear foci in somatic cells and on the axial elements of developing synaptonemal complexes .
### Output Text: | Results presented here show that BRCA1 and BRCA2 coexist in a biochemical complex and colocalize in subnuclear foci in somatic cells and on the axial elements of developing synaptonemal complexes . |
In the sentence extracted from 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: Like BRCA1 and RAD51 , BRCA2 relocates to PCNA + replication sites following exposure of S phase cells to hydroxyurea or UV irradiation .
### Output Text: | Like BRCA1 and RAD51 , BRCA2 relocates to PCNA + replication sites following exposure of S phase cells to hydroxyurea or UV irradiation . |