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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: Multicentric origin of hemochromatosis gene ( HFE ) mutations .
### Output Text: | Multicentric origin of <span class="disease">hemochromatosis</span> gene ( HFE ) 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: Genetic hemochromatosis ( GH ) is believed to be a disease restricted to those of European ancestry .
### Output Text: | <span class="disease">Genetic hemochromatosis</span> ( <span class="disease">GH</span> ) is believed to be a disease restricted to those of European ancestry . |
In the sentence extracted from 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 northwestern Europe , > 80 % of GH patients are homozygous for one mutation , the substitution of tyrosine for cysteine at position 282 ( C282Y ) in the unprocessed protein .
### Output Text: | In northwestern Europe , > 80 % of <span class="disease">GH</span> patients are homozygous for one mutation , the substitution of tyrosine for cysteine at position 282 ( C282Y ) in the unprocessed protein . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: In a proportion of GH patients , two mutations are present , C282Y and H63D .
### Output Text: | In a proportion of <span class="disease">GH</span> patients , two mutations are present , C282Y and H63D . |
In the sentence extracted from 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 clinical significance of this second mutation is such that it appears to predispose 1 % - 2 % of compound heterozygotes to expression of the disease .
### Output Text: | The clinical significance of this second mutation is such that it appears to predispose 1 % - 2 % of compound heterozygotes to expression of the disease . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: The distribution of the two mutations differ , C282Y being limited to those of northwestern European ancestry and H63D being found at allele frequencies > 5 % , in Europe , in countries bordering the Mediterranean , in the Middle East , and in the Indian subcontinent .
### Output Text: | The distribution of the two mutations differ , C282Y being limited to those of northwestern European ancestry and H63D being found at allele frequencies > 5 % , in Europe , in countries bordering the Mediterranean , in the Middle East , and in the Indian subcontinent . |
In the sentence extracted from 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 C282Y mutation occurs on a haplotype that extends < / = 6 Mb , suggesting that this mutation has arisen during the past 2 , 000 years .
### Output Text: | The C282Y mutation occurs on a haplotype that extends < / = 6 Mb , suggesting that this mutation has arisen during the past 2 , 000 years . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: The H63D mutation is older and does not occur on such a large extended haplotype , the haplotype in this case extending < / = 700 kb .
### Output Text: | The H63D mutation is older and does not occur on such a large extended haplotype , the haplotype in this case extending < / = 700 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.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: Here we report the finding of the H63D and C282Y mutations on new haplotypes .
### Output Text: | Here we report the finding of the H63D and C282Y mutations on new 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.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: In Sri Lanka we have found H63D on three new haplotypes and have found C282Y on one new haplotype , demonstrating that these mutations have arisen independently on this island .
### Output Text: | In Sri Lanka we have found H63D on three new haplotypes and have found C282Y on one new haplotype , demonstrating that these mutations have arisen independently on this island . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: These results suggest that the HFE gene has been the subject of selection pressure .
### Output Text: | These results suggest that the HFE gene has been the subject of selection pressure . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: These selection pressures could be due to infectious diseases , environmental conditions , or other genetic disorders such as anemia .
### Output Text: | These selection pressures could be due to <span class="disease">infectious diseases</span> , environmental conditions , or other <span class="disease">genetic disorders</span> such as <span class="disease">anemia</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 retrospective anonymous pilot study in screening newborns for HFE mutations in Scandinavian populations .
### Output Text: | A retrospective anonymous pilot study in screening newborns for HFE mutations in Scandinavian populations . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: We have retrospectively analyzed 837 random anonymized dried blood spot ( DBS ) samples from neonatal screening programs in Scandinavia for mutations in HFE , the candidate gene for hemochromatosis .
### Output Text: | We have retrospectively analyzed 837 random anonymized dried blood spot ( DBS ) samples from neonatal screening programs in Scandinavia for mutations in HFE , the candidate gene for <span class="disease">hemochromatosis</span> . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: We have found C282Y allele frequencies of 2 .
### Output Text: | We have found C282Y allele frequencies of 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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Use <span class="disease"> to denote a disease.
### Input Text: 3 % ( + 2 . 0 % ) ( - 1 . 3 % ) in Greenland , 4 .
### Output Text: | 3 % ( + 2 . 0 % ) ( - 1 . 3 % ) in Greenland , 4 . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: 5 % + / - 1 .
### Output Text: | 5 % + / - 1 . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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Use <span class="disease"> to denote a disease.
### Input Text: 9 % in Iceland , 5 .
### Output Text: | 9 % in Iceland , 5 . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: 1 % + / - 2 .
### Output Text: | 1 % + / - 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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Use <span class="disease"> to denote a disease.
### Input Text: 3 % in the Faeroe Islands , and 8 .
### Output Text: | 3 % in the Faeroe Islands , and 8 . |
In the sentence extracted from biomedical literature, identify all 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: 2 % + / - 2 .
### Output Text: | 2 % + / - 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.
### Entity Markup Guides:
Use <span class="disease"> to denote a disease.
### Input Text: 7 % in Denmark .
### Output Text: | 7 % in Denmark . |
In the sentence extracted from 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 high prevalence of HFE mutations in Denmark suggests that population screening for the C282Y mutation could be highly advantageous in terms of preventive health care .
### Output Text: | The high prevalence of HFE mutations in Denmark suggests that population screening for the C282Y mutation could be highly advantageous in terms of preventive health care . |
In the sentence extracted from biomedical literature, identify all 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: Long - term follow - up evaluation of C282Y homozygotes and H63D / C282Y compound heterozygotes will give an indication of the penetrance of the mutations .
### Output Text: | Long - term follow - up evaluation of C282Y homozygotes and H63D / C282Y compound heterozygotes will give an indication of the penetrance of the 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.
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### Input Text: Identification of the mutation in the alkaptonuria mouse model .
### Output Text: | Identification of the mutation in the <span class="disease">alkaptonuria</span> mouse model . |
In the sentence extracted from biomedical literature, identify all 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: Alkaptonuria ( aku ) , an inborn error of metabolism caused by the loss of homogentisate 1 , 2 - dioxygenase ( HGD ) , has been described in a mouse model created by ethylnitrosourea mutagenesis but the mutation in these mice has not previously been identified .
### Output Text: | <span class="disease">Alkaptonuria</span> ( <span class="disease">aku</span> ) , an <span class="disease">inborn error of metabolism</span> caused by the loss of homogentisate 1 , 2 - dioxygenase ( HGD ) , has been described in a mouse model created by ethylnitrosourea mutagenesis but the mutation in these mice has not previously 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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Use <span class="disease"> to denote a disease.
### Input Text: We used RT - PCR to amplify the Hgd cDNA from Hgd ( aku ) / Hgd ( aku ) mice .
### Output Text: | We used RT - PCR to amplify the Hgd cDNA from Hgd ( aku ) / Hgd ( aku ) mice . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Two products shorter than the wild - type product were amplified .
### Output Text: | Two products shorter than the wild - type product were amplified . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Restriction mapping and DNA sequencing were then used to identify the Hgd ( aku ) mouse mutation , found to be a single base change in a splice donor consensus sequence , causing exon skipping and frame - shifted products .
### Output Text: | Restriction mapping and DNA sequencing were then used to identify the Hgd ( aku ) mouse mutation , found to be a single base change in a splice donor consensus sequence , causing exon skipping and frame - shifted products . |
In the sentence extracted from biomedical literature, identify all 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: This base change allowed us to create a non - radioactive genotyping assay for this allele .
### Output Text: | This base change allowed us to create a non - radioactive genotyping assay for this allele . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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Use <span class="disease"> to denote a disease.
### Input Text: Non - syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations .
### Output Text: | <span class="disease">Non - syndromic hearing loss</span> associated with <span class="disease">enlarged vestibular aqueduct</span> is caused by <span class="disease">PDS</span> 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.
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### Input Text: Enlarged vestibular aqueduct ( EVA ) , known as the most common form of inner ear abnormality , has recently been of particular genetic interest because this anomaly is inherited in a recessive manner .
### Output Text: | <span class="disease">Enlarged vestibular aqueduct</span> ( <span class="disease">EVA</span> ) , known as the most common form of <span class="disease">inner ear abnormality</span> , has recently been of particular genetic interest because this anomaly is inherited in a recessive manner . |
In the sentence extracted from biomedical literature, identify all the disease 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 locus for non - syndromic sensorineural hearing loss with EVA has been mapped to the same chromosomal region , 7q31 , as the Pendred syndrome locus .
### Output Text: | The locus for <span class="disease">non - syndromic sensorineural hearing loss</span> with <span class="disease">EVA</span> has been mapped to the same chromosomal region , 7q31 , as the <span class="disease">Pendred syndrome</span> locus . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: In the present study , seven mutations in the PDS gene ( PDS ) , the gene responsible for Pendred syndrome , have been found in families of non - syndromic sensorineural hearing loss with EVA .
### Output Text: | In the present study , seven mutations in the <span class="disease">PDS</span> gene ( PDS ) , the gene responsible for <span class="disease">Pendred syndrome</span> , have been found in families of <span class="disease">non - syndromic sensorineural hearing loss</span> with <span class="disease">EVA</span> . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: One family is homozygous , three families are compound heterozygotes , and two families are heterozygous but with no other mutation detected .
### Output Text: | One family is homozygous , three families are compound heterozygotes , and two families are heterozygous but with no other mutation detected . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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Use <span class="disease"> to denote a disease.
### Input Text: The present results provide evidence that mutations in PDS cause both syndromic and non - syndromic hearing loss . .
### Output Text: | The present results provide evidence that mutations in PDS cause both <span class="disease">syndromic and non - syndromic hearing loss</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: Mutational analysis and genotype - phenotype correlation of 29 unrelated Japanese patients with X - linked adrenoleukodystrophy .
### Output Text: | Mutational analysis and genotype - phenotype correlation of 29 unrelated Japanese patients with <span class="disease">X - linked adrenoleukodystrophy</span> . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: BACKGROUND X - linked adrenoleukodystrophy ( ALD ) is an inherited disease characterized by progressive neurologic dysfunction , occasionally associated with adrenal insufficiency .
### Output Text: | BACKGROUND <span class="disease">X - linked adrenoleukodystrophy</span> ( <span class="disease">ALD</span> ) is an <span class="disease">inherited disease</span> characterized by progressive <span class="disease">neurologic dysfunction</span> , occasionally associated with <span class="disease">adrenal insufficiency</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 classic form of ALD usually has onset in childhood ( childhood cerebral ALD ) , with rapid neurologic deterioration leading to a vegetative state .
### Output Text: | The classic form of <span class="disease">ALD</span> usually has onset in childhood ( <span class="disease">childhood cerebral ALD</span> ) , with rapid <span class="disease">neurologic deterioration</span> leading to a vegetative state . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Adult - onset cerebral ALD also presents with rapidly progressive neurologic dysfunction .
### Output Text: | Adult - onset <span class="disease">cerebral ALD</span> also presents with rapidly progressive <span class="disease">neurologic 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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### Input Text: Milder phenotypes such as adrenomyeloneuropathy and Addison disease only also have been recognized .
### Output Text: | Milder phenotypes such as <span class="disease">adrenomyeloneuropathy</span> and <span class="disease">Addison disease</span> only also have been recognized . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Despite discovery of the causative gene , a molecular basis for the diverse clinical presentations remains to be elucidated .
### Output Text: | Despite discovery of the causative gene , a molecular basis for the diverse clinical presentations remains to be elucidated . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: OBJECTIVES To conduct mutational analyses in 29 Japanese patients with ALD from 29 unrelated families , to obtain knowledge of the spectrum of mutations in this gene , and to study genotype - phenotype correlations in Japanese patients .
### Output Text: | OBJECTIVES To conduct mutational analyses in 29 Japanese patients with <span class="disease">ALD</span> from 29 unrelated families , to obtain knowledge of the spectrum of mutations in this gene , and to study genotype - phenotype correlations in Japanese 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: METHODS The 29 patients comprised 13 patients with childhood cerebral ALD , 11 patients with adult - onset cerebral ALD , and 5 patients with adrenomyeloneuropathy .
### Output Text: | METHODS The 29 patients comprised 13 patients with <span class="disease">childhood cerebral ALD</span> , 11 patients with adult - onset <span class="disease">cerebral ALD</span> , and 5 patients with <span class="disease">adrenomyeloneuropathy</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 conducted detailed mutational analyses of 29 unrelated Japanese patients with ALD by genomic Southern blot analysis and direct nucleotide sequence analysis of reverse transcriptase - polymerase chain reaction products derived from total RNA that was extracted from cultured skin fibroblasts , lymphoblastoid cells , or peripheral blood leukocytes .
### Output Text: | We conducted detailed mutational analyses of 29 unrelated Japanese patients with <span class="disease">ALD</span> by genomic Southern blot analysis and direct nucleotide sequence analysis of reverse transcriptase - polymerase chain reaction products derived from total RNA that was extracted from cultured skin fibroblasts , lymphoblastoid cells , or peripheral blood leukocytes . |
In the sentence extracted from biomedical literature, identify all the disease 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 Three patients with adult - onset cerebral ALD were identified as having large genomic rearrangements .
### Output Text: | RESULTS Three patients with adult - onset <span class="disease">cerebral ALD</span> were identified as having large genomic rearrangements . |
In the sentence extracted from biomedical literature, identify all the disease 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 remaining 26 patients were identified as having 21 independent mutations , including 12 novel mutations resulting in small nucleotide alterations in the ALD gene .
### Output Text: | The remaining 26 patients were identified as having 21 independent mutations , including 12 novel mutations resulting in small nucleotide alterations in the <span class="disease">ALD</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: Eighteen ( 69 % ) of 26 mutations were missense mutations .
### Output Text: | Eighteen ( 69 % ) of 26 mutations were missense 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.
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### Input Text: Most missense mutations involved amino acids conserved in homologous gene products , including PMP70 , mALDRP , and Pxa1p .
### Output Text: | Most missense mutations involved amino acids conserved in homologous gene products , including PMP70 , mALDRP , and Pxa1p . |
In the sentence extracted from biomedical literature, identify all the disease 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 AG dinucleotide deletion at position 1081 - 1082 , which has been reported previously to be the most common mutation in white patients ( 12 % - 17 % ) , was also identified as the most common mutation in Japanese patients ( 12 % ) .
### Output Text: | The AG dinucleotide deletion at position 1081 - 1082 , which has been reported previously to be the most common mutation in white patients ( 12 % - 17 % ) , was also identified as the most common mutation in Japanese patients ( 12 % ) . |
In the sentence extracted from biomedical literature, identify all the disease 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 phenotypes were associated with mutations resulting in protein truncation or subtle amino acid changes .
### Output Text: | All phenotypes were associated with mutations resulting in protein truncation or subtle amino acid changes . |
In the sentence extracted from biomedical literature, identify all the disease 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 were no differences in phenotypic expressions between missense mutations involving conserved amino acids and those involving nonconserved amino acids .
### Output Text: | There were no differences in phenotypic expressions between missense mutations involving conserved amino acids and those involving nonconserved amino acids . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: CONCLUSIONS There are no obvious correlations between the phenotypes of patients with ALD and their genotypes , suggesting that other genetic or environmental factors modify the phenotypic expressions of ALD . .
### Output Text: | CONCLUSIONS There are no obvious correlations between the phenotypes of patients with <span class="disease">ALD</span> and their genotypes , suggesting that other genetic or environmental factors modify the phenotypic expressions of <span class="disease">ALD</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 common human skin tumour is caused by activating mutations in beta - catenin .
### Output Text: | A common human <span class="disease">skin tumour</span> is caused by activating mutations in beta - catenin . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: WNT signalling orchestrates a number of developmental programs .
### Output Text: | WNT signalling orchestrates a number of developmental programs . |
In the sentence extracted from biomedical literature, identify all the disease 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 response to this stimulus , cytoplasmic beta - catenin ( encoded by CTNNB1 ) is stabilized , enabling downstream transcriptional activation by members of the LEF / TCF family .
### Output Text: | In response to this stimulus , cytoplasmic beta - catenin ( encoded by CTNNB1 ) is stabilized , enabling downstream transcriptional activation by members of the LEF / TCF 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: One of the target genes for beta - catenin / TCF encodes c - MYC , explaining why constitutive activation of the WNT pathway can lead to cancer , particularly in the colon .
### Output Text: | One of the target genes for beta - catenin / TCF encodes c - MYC , explaining why constitutive activation of the WNT pathway can lead to <span class="disease">cancer</span> , particularly in the colon . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Most colon cancers arise from mutations in the gene encoding adenomatous polyposis coli ( APC ) , a protein required for ubiquitin - mediated degradation of beta - catenin , but a small percentage of colon and some other cancers harbour beta - catenin - stabilizing mutations .
### Output Text: | Most <span class="disease">colon cancers</span> arise from mutations in the gene encoding <span class="disease">adenomatous polyposis coli</span> ( <span class="disease">APC</span> ) , a protein required for ubiquitin - mediated degradation of beta - catenin , but a small percentage of <span class="disease">colon and some other cancers</span> harbour beta - catenin - stabilizing 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.
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### Input Text: Recently , we discovered that transgenic mice expressing an activated beta - catenin are predisposed to developing skin tumours resembling pilomatricomas .
### Output Text: | Recently , we discovered that transgenic mice expressing an activated beta - catenin are predisposed to developing <span class="disease">skin tumours</span> resembling <span class="disease">pilomatricomas</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: Given that the skin of these adult mice also exhibits signs of de novo hair - follicle morphogenesis , we wondered whether human pilomatricomas might originate from hair matrix cells and whether they might possess beta - catenin - stabilizing mutations .
### Output Text: | Given that the skin of these adult mice also exhibits signs of de novo hair - follicle morphogenesis , we wondered whether human <span class="disease">pilomatricomas</span> might originate from hair matrix cells and whether they might possess beta - catenin - stabilizing 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.
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### Input Text: Here , we explore the cell origin and aetiology of this common human skin tumour .
### Output Text: | Here , we explore the cell origin and aetiology of this common human <span class="disease">skin tumour</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 found nuclear LEF - 1 in the dividing tumour cells , providing biochemical evidence that pilomatricomas are derived from hair matrix cells .
### Output Text: | We found nuclear LEF - 1 in the dividing <span class="disease">tumour</span> cells , providing biochemical evidence that <span class="disease">pilomatricomas</span> are derived from hair matrix 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: At least 75 % of these tumours possess mutations affecting the amino - terminal segment , normally involved in phosphorylation - dependent , ubiquitin - mediated degradation of the protein .
### Output Text: | At least 75 % of these <span class="disease">tumours</span> possess mutations affecting the amino - terminal segment , normally involved in phosphorylation - dependent , ubiquitin - mediated degradation of the protein . |
In the sentence extracted from biomedical literature, identify all the disease 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 percentage of CTNNB1 mutations is greater than in all other human tumours examined thus far , and directly implicates beta - catenin / LEF misregulation as the major cause of hair matrix cell tumorigenesis in humans . .
### Output Text: | This percentage of CTNNB1 mutations is greater than in all other human <span class="disease">tumours</span> examined thus far , and directly implicates beta - catenin / LEF misregulation as the major cause of hair matrix cell tumorigenesis in 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: The Pendred syndrome gene encodes a chloride - iodide transport protein .
### Output Text: | The <span class="disease">Pendred syndrome</span> gene encodes a chloride - iodide transport protein . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Pendred syndrome is the most common form of syndromic deafness and characterized by congenital sensorineural hearing loss and goitre .
### Output Text: | <span class="disease">Pendred syndrome</span> is the most common form of <span class="disease">syndromic deafness</span> and characterized by congenital <span class="disease">sensorineural hearing loss</span> and <span class="disease">goitre</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: This disorder was mapped to chromosome 7 and the gene causing Pendred syndrome ( PDS ) was subsequently identified by positional cloning .
### Output Text: | This disorder was mapped to chromosome 7 and the gene causing <span class="disease">Pendred syndrome</span> ( <span class="disease">PDS</span> ) was subsequently identified by positional cloning . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: PDS encodes a putative transmembrane protein designated pendrin .
### Output Text: | PDS encodes a putative transmembrane protein designated pendrin . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Pendrin is closely related to a family of sulfate transport proteins that includes the rat sulfate - anion transporter ( encoded by Sat - 1 ; 29 % amino acid sequence identity ) , the human diastrophic dysplasia sulfate transporter ( encoded by DTD ; 32 % ) and the human sulfate transporter downregulated in adenoma ( encoded by DRA ; 45 % ) .
### Output Text: | Pendrin is closely related to a family of sulfate transport proteins that includes the rat sulfate - anion transporter ( encoded by Sat - 1 ; 29 % amino acid sequence identity ) , the human <span class="disease">diastrophic dysplasia</span> sulfate transporter ( encoded by DTD ; 32 % ) and the human sulfate transporter downregulated in <span class="disease">adenoma</span> ( encoded by DRA ; 45 % ) . |
In the sentence extracted from biomedical literature, identify all the disease 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 this homology and the presence of a slightly modified sulfate - transporter signature sequence comprising its putative second transmembrane domain , pendrin has been proposed to function as a sulfate transporter .
### Output Text: | On the basis of this homology and the presence of a slightly modified sulfate - transporter signature sequence comprising its putative second transmembrane domain , pendrin has been proposed to function as a sulfate 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 were unable to detect evidence of sulfate transport following the expression of pendrin in Xenopus laevis oocytes by microinjection of PDS cRNA or in Sf9 cells following infection with PDS - recombinant baculovirus .
### Output Text: | We were unable to detect evidence of sulfate transport following the expression of pendrin in Xenopus laevis oocytes by microinjection of PDS cRNA or in Sf9 cells following infection with PDS - recombinant baculovirus . |
In the sentence extracted from biomedical literature, identify all the disease 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 rates of transport for iodide and chloride were significantly increased following the expression of pendrin in both cell systems .
### Output Text: | The rates of transport for iodide and chloride were significantly increased following the expression of pendrin in both cell systems . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Our results demonstrate that pendrin functions as a transporter of chloride and iodide , but not sulfate , and may provide insight into thyroid physiology and the pathophysiology of Pendred syndrome . .
### Output Text: | Our results demonstrate that pendrin functions as a transporter of chloride and iodide , but not sulfate , and may provide insight into thyroid physiology and the pathophysiology of <span class="disease">Pendred 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: HFE mutations analysis in 711 hemochromatosis probands : evidence for S65C implication in mild form of hemochromatosis .
### Output Text: | HFE mutations analysis in 711 <span class="disease">hemochromatosis</span> probands : evidence for S65C implication in mild form of <span class="disease">hemochromatosis</span> . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Hereditary hemochromatosis ( HH ) is a common autosomal recessive genetic disorder of iron metabolism .
### Output Text: | <span class="disease">Hereditary hemochromatosis</span> ( <span class="disease">HH</span> ) is a common <span class="disease">autosomal recessive genetic disorder</span> of iron metabolism . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: The HFE candidate gene encoding an HLA class I - like protein involved in HH was identified in 1996 .
### Output Text: | The HFE candidate gene encoding an HLA class I - like protein involved in <span class="disease">HH</span> was identified in 1996 . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Two missense mutations have been described C282Y , accounting for 80 % to 90 % of HH chromosomes , and H63D , which is associated with a milder form of the disease representing 40 % to 70 % of non - C282Y HH chromosomes .
### Output Text: | Two missense mutations have been described C282Y , accounting for 80 % to 90 % of <span class="disease">HH</span> chromosomes , and H63D , which is associated with a milder form of the disease representing 40 % to 70 % of non - C282Y <span class="disease">HH</span> chromosomes . |
In the sentence extracted from biomedical literature, identify all the disease 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 on the analysis of C282Y , H63D , and the 193A - - > T substitution leading to the S65C missense substitution in a large series of probands and controls .
### Output Text: | We report here on the analysis of C282Y , H63D , and the 193A - - > T substitution leading to the S65C missense substitution in a large series of probands 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: The results confirm that the C282Y substitution was the main mutation involved in hemochromatosis , accounting for 85 % of carrier chromosomes , whereas the H63D substitution represented 39 % of the HH chromosomes that did not carry the C282Y mutation .
### Output Text: | The results confirm that the C282Y substitution was the main mutation involved in <span class="disease">hemochromatosis</span> , accounting for 85 % of carrier chromosomes , whereas the H63D substitution represented 39 % of the <span class="disease">HH</span> chromosomes that did not carry the C282Y 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: In addition , our screening showed that the S65C substitution was significantly enriched in probands with at least one chromosome without an assigned mutation .
### Output Text: | In addition , our screening showed that the S65C substitution was significantly enriched in probands with at least one chromosome without an assigned 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: This substitution accounted for 7 .
### Output Text: | This substitution accounted for 7 . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: 8 % of HH chromosomes that were neither C282Y nor H63D .
### Output Text: | 8 % of <span class="disease">HH</span> chromosomes that were neither C282Y nor H63D . |
In the sentence extracted from biomedical literature, identify all the disease 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 enrichment of S65C among HH chromosomes suggests that the S65C substitution is associated with the mild form of hemochromatosis .
### Output Text: | This enrichment of S65C among <span class="disease">HH</span> chromosomes suggests that the S65C substitution is associated with the mild form of <span class="disease">hemochromatosis</span> . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Germline BRCA1 alterations in a population - based series of ovarian cancer cases .
### Output Text: | Germline BRCA1 alterations in a population - based series of <span class="disease">ovarian cancer</span> cases . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: The objective of this study was to provide more accurate frequency estimates of breast cancer susceptibility gene 1 ( BRCA1 ) germline alterations in the ovarian cancer population .
### Output Text: | The objective of this study was to provide more accurate frequency estimates of <span class="disease">breast cancer</span> susceptibility gene 1 ( BRCA1 ) germline alterations in the <span class="disease">ovarian cancer</span> 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: To achieve this , we determined the prevalence of BRCA1 alterations in a population - based series of consecutive ovarian cancer cases .
### Output Text: | To achieve this , we determined the prevalence of BRCA1 alterations in a population - based series of consecutive <span class="disease">ovarian cancer</span> cases . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: This is the first population - based ovarian cancer study reporting BRCA1 alterations derived from a comprehensive screen of the entire coding region .
### Output Text: | This is the first population - based <span class="disease">ovarian cancer</span> study reporting BRCA1 alterations derived from a comprehensive screen of the entire coding region . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: One hundred and seven ovarian cancer cases were analyzed for BRCA1 alterations using the RNase mismatch cleavage assay followed by direct sequencing .
### Output Text: | One hundred and seven <span class="disease">ovarian cancer</span> cases were analyzed for BRCA1 alterations using the RNase mismatch cleavage assay followed by direct sequencing . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Two truncating mutations , 962del4 and 3600del11 , were identified .
### Output Text: | Two truncating mutations , 962del4 and 3600del11 , were 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: Both patients had a family history of breast or ovarian cancer .
### Output Text: | Both patients had a family history of <span class="disease">breast 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.
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### Input Text: Several novel as well as previously reported uncharacterized variants were also identified , some of which were associated with a family history of cancer .
### Output Text: | Several novel as well as previously reported uncharacterized variants were also identified , some of which were associated with a family history 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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### Input Text: The frequency distribution of common polymorphisms was determined in the 91 Caucasian cancer cases in this series and 24 sister controls using allele - specific amplification .
### Output Text: | The frequency distribution of common polymorphisms was determined in the 91 Caucasian <span class="disease">cancer</span> cases in this series and 24 sister controls using allele - specific amplification . |
In the sentence extracted from biomedical literature, identify all the disease 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 rare form of the Q356R polymorphism was significantly ( P = 0 . 03 ) associated with a family history of ovarian cancer , suggesting that this polymorphism may influence ovarian cancer risk .
### Output Text: | The rare form of the Q356R polymorphism was significantly ( P = 0 . 03 ) associated with a family history of <span class="disease">ovarian cancer</span> , suggesting that this polymorphism may influence <span class="disease">ovarian cancer</span> risk . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: In summary , our data suggest a role for some uncharacterized variants and rare forms of polymorphisms in determining ovarian cancer risk , and highlight the necessity to screen for missense alterations as well as truncating mutations in this population .
### Output Text: | In summary , our data suggest a role for some uncharacterized variants and rare forms of polymorphisms in determining <span class="disease">ovarian cancer</span> risk , and highlight the necessity to screen for missense alterations as well as truncating mutations in this 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: Adrenoleukodystrophy - related protein can compensate functionally for adrenoleukodystrophy protein deficiency ( X - ALD ) : implications for therapy .
### Output Text: | Adrenoleukodystrophy - related protein can compensate functionally for <span class="disease">adrenoleukodystrophy protein deficiency</span> ( <span class="disease">X - ALD</span> ) : implications for therapy . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Inherited defects in the peroxisomal ATP - binding cassette ( ABC ) transporter adrenoleukodystrophy protein ( ALDP ) lead to the lethal peroxisomal disorder X - linked adrenoleukodystrophy ( X - ALD ) , for which no efficient treatment has been established so far .
### Output Text: | <span class="disease">Inherited defects</span> in the peroxisomal ATP - binding cassette ( ABC ) transporter <span class="disease">adrenoleukodystrophy</span> protein ( ALDP ) lead to the lethal <span class="disease">peroxisomal disorder</span> <span class="disease">X - linked adrenoleukodystrophy</span> ( <span class="disease">X - ALD</span> ) , for which no efficient treatment has been established so far . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: Three other peroxisomal ABC transporters currently are known adrenoleukodystrophy - related protein ( ALDRP ) , 70 kDa peroxisomal membrane protein ( PMP70 ) and PMP70 - related protein .
### Output Text: | Three other peroxisomal ABC transporters currently are known adrenoleukodystrophy - related protein ( ALDRP ) , 70 kDa peroxisomal membrane protein ( PMP70 ) and PMP70 - related protein . |
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities.
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### Input Text: By using transient and stable overexpression of human cDNAs encoding ALDP and its closest relative ALDRP , we could restore the impaired peroxisomal beta - oxidation in fibroblasts of X - ALD patients .
### Output Text: | By using transient and stable overexpression of human cDNAs encoding ALDP and its closest relative ALDRP , we could restore the impaired peroxisomal beta - oxidation in fibroblasts of <span class="disease">X - ALD</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: The pathognomonic accumulation of very long chain fatty acids could also be prevented by overexpression of ALDRP in immortalized X - ALD cells .
### Output Text: | The pathognomonic accumulation of very long chain fatty acids could also be prevented by overexpression of ALDRP in immortalized X - ALD 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: Immunofluorescence analysis demonstrated that the functional replacement of ALDP by ALDRP was not due to stabilization of the mutated ALDP itself .
### Output Text: | Immunofluorescence analysis demonstrated that the functional replacement of ALDP by ALDRP was not due to stabilization of the mutated ALDP itself . |