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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: Risk reversals in predictive testing for Huntington disease . ### Output Text:
Risk reversals in predictive testing for <span class="disease">Huntington disease</span> .
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: The first predictive testing for Huntington disease ( HD ) was based on analysis of linked polymorphic DNA markers to estimate the likelihood of inheriting the mutation for HD . ### Output Text:
The first predictive testing for <span class="disease">Huntington disease</span> ( <span class="disease">HD</span> ) was based on analysis of linked polymorphic DNA markers to estimate the likelihood of inheriting the mutation for <span class="disease">HD</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: Limits to accuracy included recombination between the DNA markers and the mutation , pedigree structure , and whether DNA samples were available from family members . ### Output Text:
Limits to accuracy included recombination between the DNA markers and the mutation , pedigree structure , and whether DNA samples were available from family members .
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: With direct tests for the HD mutation , we have assessed the accuracy of results obtained by linkage approaches when requested to do so by the test individuals . ### Output Text:
With direct tests for the <span class="disease">HD</span> mutation , we have assessed the accuracy of results obtained by linkage approaches when requested to do so by the test individuals .
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: For six such individuals , there was significant disparity between the tests . ### Output Text:
For six such individuals , there was significant disparity between the tests .
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: Three went from a decreased risk to an increased risk , while in another three the risk was decreased . ### Output Text:
Three went from a decreased risk to an increased risk , while in another three the risk was decreased .
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: Knowledge of the potential reasons for these changes in results and impact of these risk reversals on both patients and the counseling team can assist in the development of strategies for the prevention and , where necessary , management of a risk reversal in any predictive testing program . . ### Output Text:
Knowledge of the potential reasons for these changes in results and impact of these risk reversals on both patients and the counseling team can assist in the development of strategies for the prevention and , where necessary , management of a risk reversal in any predictive testing program . .
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: A novel common missense mutation G301C in the N - acetylgalactosamine - 6 - sulfate sulfatase gene in mucopolysaccharidosis IVA . ### Output Text:
A novel common missense mutation G301C in the N - acetylgalactosamine - 6 - sulfate sulfatase gene in <span class="disease">mucopolysaccharidosis IVA</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: Mucopolysaccharidosis IVA ( MPS IVA ) is an autosomal recessive lysosomal storage disorder caused by a genetic defect in N - acetylgalactosamine - 6 - sulfate sulfatase ( GALNS ) . ### Output Text:
<span class="disease">Mucopolysaccharidosis IVA</span> ( <span class="disease">MPS IVA</span> ) is an <span class="disease">autosomal recessive lysosomal storage disorder</span> caused by a <span class="disease">genetic defect</span> in N - acetylgalactosamine - 6 - sulfate sulfatase ( GALNS ) .
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: In previous studies , we have found two common mutations in Caucasians and Japanese , respectively . ### Output Text:
In previous studies , we have found two common mutations in Caucasians and Japanese , respectively .
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: To characterize the mutational spectrum in various ethnic groups , mutations in the GALNS gene in Colombian MPS IVA patients were investigated , and genetic backgrounds were extensively analyzed to identify racial origin , based on mitochondrial DNA ( mtDNA ) lineages . ### Output Text:
To characterize the mutational spectrum in various ethnic groups , mutations in the GALNS gene in Colombian <span class="disease">MPS IVA</span> patients were investigated , and genetic backgrounds were extensively analyzed to identify racial origin , based on mitochondrial DNA ( mtDNA ) lineages .
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: Three novel missense mutations never identified previously in other populations and found in 16 out of 19 Colombian MPS IVA unrelated alleles account for 84 . ### Output Text:
Three novel missense mutations never identified previously in other populations and found in 16 out of 19 Colombian <span class="disease">MPS IVA</span> unrelated alleles account for 84 .
In the sentence extracted from 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: 2 % of the alleles in this study . ### Output Text:
2 % of the alleles in this study .
In the sentence extracted from 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 G301C and S162F mutations account for 68 . ### Output Text:
The G301C and S162F mutations account for 68 .
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: 4 % and 10 . ### Output Text:
4 % and 10 .
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: 5 % of mutations , respectively , whereas the remaining F69V is limited to a single allele . ### Output Text:
5 % of mutations , respectively , whereas the remaining F69V is limited to a single 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. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: The skewed prevalence of G301C in only Colombian patients and haplotype analysis by restriction fragment length polymorphisms in the GALNS gene suggest that G301C originated from a common ancestor . ### Output Text:
The skewed prevalence of G301C in only Colombian patients and haplotype analysis by restriction fragment length polymorphisms in the GALNS gene suggest that G301C originated from a common ancestor .
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: Investigation of the genetic background by means of mtDNA lineages indicate that all our patients are probably of native American descent ### Output Text:
Investigation of the genetic background by means of mtDNA lineages indicate that all our patients are probably of native American 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. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: Low frequency of BRCA1 germline mutations in 45 German breast / ovarian cancer families . ### Output Text:
Low frequency of BRCA1 germline mutations in 45 German <span class="disease">breast / ovarian cancer</span> families .
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: In this study we investigated 45 German breast / ovarian cancer families for germline mutations in the BRCA1 gene . ### Output Text:
In this study we investigated 45 German <span class="disease">breast / ovarian cancer</span> families for germline mutations in the BRCA1 gene .
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: We identified four germline mutations in three breast cancer families and in one breast - ovarian cancer family . among these were one frameshift mutation , one nonsense mutation , one novel splice site mutation , and one missense mutation . ### Output Text:
We identified four germline mutations in three <span class="disease">breast cancer</span> families and in one <span class="disease">breast - ovarian cancer</span> family . among these were one frameshift mutation , one nonsense mutation , one novel splice site mutation , and one missense mutation .
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: The missense mutation was also found in 2 . ### Output Text:
The missense mutation was also found in 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: 8 % of the general population , suggesting that it is not disease associated . ### Output Text:
8 % of the general population , suggesting that it is not disease associated .
In the sentence extracted from 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 average age of disease onset in those families harbouring causative mutations was between 32 . ### Output Text:
The average age of disease onset in those families harbouring causative mutations was between 32 .
In the sentence extracted from 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: 3 and 37 . ### Output Text:
3 and 37 .
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: 4 years , whereas the family harbouring the missense mutation had an average age of onset of 51 . ### Output Text:
4 years , whereas the family harbouring the missense mutation had an average age of onset of 51 .
In the sentence extracted from 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: 2 years . ### Output Text:
2 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: These findings show that BRCA1 is implicated in a small fraction of breast / ovarian cancer families suggesting the involvement of another susceptibility gene ( s ) ### Output Text:
These findings show that BRCA1 is implicated in a small fraction of <span class="disease">breast / ovarian cancer</span> families suggesting the involvement of another susceptibility gene ( s )
In the sentence extracted from 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: Paternal transmission of congenital myotonic dystrophy . ### Output Text:
Paternal transmission of <span class="disease">congenital myotonic dystrophy</span> .
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: We report a rare case of paternally transmitted congenital myotonic dystrophy ( DM ) . ### Output Text:
We report a rare case of paternally transmitted <span class="disease">congenital myotonic dystrophy</span> ( <span class="disease">DM</span> ) .
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: The proband is a 23 year old , mentally retarded male who suffers severe muscular weakness . ### Output Text:
The proband is a 23 year old , <span class="disease">mentally retarded</span> male who suffers severe <span class="disease">muscular weakness</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: He presented with respiratory and feeding difficulties at birth . ### Output Text:
He presented with respiratory and feeding difficulties at birth .
In the sentence extracted from 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: His two sibs suffer from childhood onset DM . ### Output Text:
His two sibs suffer from childhood onset <span class="disease">DM</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: Their late father had the adult type of DM , with onset around 30 years . ### Output Text:
Their late father had the adult type of <span class="disease">DM</span> , with onset around 30 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: Only six other cases of paternal transmission of congenital DM have been reported recently . ### Output Text:
Only six other cases of paternal transmission of <span class="disease">congenital DM</span> have been reported recently .
In the sentence extracted from 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 review the sex related effects on transmission of congenital DM . ### Output Text:
We review the sex related effects on transmission of <span class="disease">congenital DM</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: Decreased fertility of males with adult onset DM and contraction of the repeat upon male transmission contribute to the almost absent occurrence of paternal transmission of congenital DM . ### Output Text:
Decreased fertility of males with adult onset <span class="disease">DM</span> and contraction of the repeat upon male transmission contribute to the almost absent occurrence of paternal transmission of <span class="disease">congenital DM</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: Also the fathers of the reported congenitally affected children showed , on average , shorter CTG repeat lengths and hence less severe clinical symptoms than the mothers of children with congenital DM . ### Output Text:
Also the fathers of the reported congenitally affected children showed , on average , shorter CTG repeat lengths and hence less severe clinical symptoms than the mothers of children with <span class="disease">congenital DM</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 conclude that paternal transmission of congenital DM is rare and preferentially occurs with onset of DM past 30 years in the father . . ### Output Text:
We conclude that paternal transmission of <span class="disease">congenital DM</span> is rare and preferentially occurs with onset of <span class="disease">DM</span> past 30 years in the father . .
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: The RB1 gene mutation in a child with ectopic intracranial retinoblastoma . ### Output Text:
The RB1 gene mutation in a child with <span class="disease">ectopic intracranial retinoblastoma</span> .
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: The RB1 gene mutation was investigated in a child with ectopic intracranial retinoblastoma using DNA obtained from both the pineal and retinal tumours of the patient . ### Output Text:
The RB1 gene mutation was investigated in a child with <span class="disease">ectopic intracranial retinoblastoma</span> using DNA obtained from both the <span class="disease">pineal and retinal tumours</span> of the patient .
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: A nonsense mutation in exon 17 ( codon 556 ) of the RB1 gene was found to be present homozygously in both the retinal and the pineal tumours . ### Output Text:
A nonsense mutation in exon 17 ( codon 556 ) of the RB1 gene was found to be present homozygously in both the <span class="disease">retinal and the pineal 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. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: The same mutation was present heterozygously in the DNA from the constitutional cells of the patient , proving it to be of germline origin . ### Output Text:
The same mutation was present heterozygously in the DNA from the constitutional cells of the patient , proving it to be of germline origin .
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: The initial mutation was shown to have occurred in the paternally derived RB1 allele . ### Output Text:
The initial mutation was shown to have occurred in the paternally derived RB1 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. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: The mutation is in an area of the gene that encodes the protein - binding region known as the pocket region and has been detected in other cases of retinoblastoma . . ### Output Text:
The mutation is in an area of the gene that encodes the protein - binding region known as the pocket region and has been detected in other cases of <span class="disease">retinoblastoma</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: Low levels of beta hexosaminidase A in healthy individuals with apparent deficiency of this enzyme . ### Output Text:
Low levels of beta hexosaminidase A in healthy individuals with apparent deficiency of this 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. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: Appreciable beta hexosaminidase A ( hex A ) activity has been detected in cultured skin fibroblasts and melanoma tissue from healthy individuals previously reported as having deficiency of hex A activity indistinguishable from that of patients with Tay - Sachs disease ( TSD ) . ### Output Text:
Appreciable beta hexosaminidase A ( hex A ) activity has been detected in cultured skin fibroblasts and <span class="disease">melanoma</span> tissue from healthy individuals previously reported as having <span class="disease">deficiency of hex A</span> activity indistinguishable from that of patients with <span class="disease">Tay - Sachs disease</span> ( <span class="disease">TSD</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: Identification and quantitation of hex A , amounting to 3 . ### Output Text:
Identification and quantitation of hex A , amounting to 3 .
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: 5 % - 6 . ### Output Text:
5 % - 6 .
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: 9 % of total beta hexosaminidase activity , has been obtained by cellulose acetate gel electrophoresis , DEAE - cellulose ion - exchange chromatography , radial immunodiffusion , and radioimmunoassay . ### Output Text:
9 % of total beta hexosaminidase activity , has been obtained by cellulose acetate gel electrophoresis , DEAE - cellulose ion - exchange chromatography , radial immunodiffusion , and radioimmunoassay .
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: Previous family studies suggested that these individuals may be compound heterozygotes for the common mutant TSD gene and a rare ( allelic ) mutant gene . ### Output Text:
Previous family studies suggested that these individuals may be compound heterozygotes for the common mutant <span class="disease">TSD</span> gene and a rare ( allelic ) mutant gene .
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: Thus , the postulated rate mutant gene appears to code for the expression of low amounts of hex A . ### Output Text:
Thus , the postulated rate mutant gene appears to code for the expression of low amounts of hex A .
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: Heterozygotes for the rare mutant may be indistinguishable from heterozygotes for the common TSD mutant . ### Output Text:
Heterozygotes for the rare mutant may be indistinguishable from heterozygotes for the common <span class="disease">TSD</span> mutant .
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: However , direct visualization and quantitation of hex A by the methods described may prevent false - positive prenatal diagnosis of TSD in fetuses having the incomplete hex A deficiency of the type described in the four healthy individuals ### Output Text:
However , direct visualization and quantitation of hex A by the methods described may prevent false - positive prenatal diagnosis of <span class="disease">TSD</span> in fetuses having the incomplete <span class="disease">hex A deficiency</span> of the type described in the four healthy individuals
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: The tumor suppressor gene Smad4 / Dpc4 is required for gastrulation and later for anterior development of the mouse embryo . ### Output Text:
The <span class="disease">tumor</span> suppressor gene Smad4 / Dpc4 is required for gastrulation and later for anterior development of the mouse embryo .
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: Mutations in the SMAD4 / DPC4 tumor suppressor gene , a key signal transducer in most TGFbeta - related pathways , are involved in 50 % of pancreatic cancers . ### Output Text:
Mutations in the SMAD4 / DPC4 <span class="disease">tumor</span> suppressor gene , a key signal transducer in most TGFbeta - related pathways , are involved in 50 % of <span class="disease">pancreatic cancers</span> .
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: Homozygous Smad4 mutant mice die before day 7 . ### Output Text:
Homozygous Smad4 mutant mice die before day 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. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: 5 of embryogenesis . ### Output Text:
5 of embryogenesis .
In the sentence extracted from 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: Mutant embryos have reduced size , fail to gastrulate or express a mesodermal marker , and show abnormal visceral endoderm development . ### Output Text:
Mutant embryos have reduced size , fail to gastrulate or express a mesodermal marker , and show abnormal visceral endoderm development .
In the sentence extracted from 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: Growth retardation of the Smad4 - deficient embryos results from reduced cell proliferation rather than increased apoptosis . ### Output Text:
<span class="disease">Growth retardation</span> of the Smad4 - deficient embryos results from reduced cell proliferation rather than increased apoptosis .
In the sentence extracted from 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: Aggregation of mutant Smad4 ES cells with wild - type tetraploid morulae rescues the gastrulation defect . ### Output Text:
Aggregation of mutant Smad4 ES cells with wild - type tetraploid morulae rescues the <span class="disease">gastrulation defect</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: These results indicate that Smad4 is initially required for the differentiation of the visceral endoderm and that the gastrulation defect in the epiblast is secondary and non - cell autonomous . ### Output Text:
These results indicate that Smad4 is initially required for the differentiation of the visceral endoderm and that the <span class="disease">gastrulation defect</span> in the epiblast is secondary and non - cell autonomous .
In the sentence extracted from 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: Rescued embryos show severe anterior truncations , indicating a second important role for Smad4 in anterior patterning during embryogenesis . ### Output Text:
Rescued embryos show severe anterior truncations , indicating a second important role for Smad4 in anterior patterning during embryogenesis .
In the sentence extracted from 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: Prevalence of p16 and CDK4 germline mutations in 48 melanoma - prone families in France . ### Output Text:
Prevalence of p16 and CDK4 germline mutations in 48 <span class="disease">melanoma</span> - prone families in France .
In the sentence extracted from 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 French Familial Melanoma Study Group . ### Output Text:
The French <span class="disease">Familial Melanoma</span> Study Group .
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: Germline mutations in the p16 and CDK4 genes have been reported in a subset of melanoma pedigrees , but their prevalence is not well known . ### Output Text:
Germline mutations in the p16 and CDK4 genes have been reported in a subset of <span class="disease">melanoma</span> pedigrees , but their prevalence is not well known .
In the sentence extracted from 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 searched for such germline mutations in 48 French melanoma - prone families selected according to two major criteria families with at least three affected members ( n = 20 ) or families with two affected members , one of them affected before the age of 50 ( n = 28 ) , and one additional minor criterion . ### Output Text:
We searched for such germline mutations in 48 French <span class="disease">melanoma</span> - prone families selected according to two major criteria families with at least three affected members ( n = 20 ) or families with two affected members , one of them affected before the age of 50 ( n = 28 ) , and one additional minor criterion .
In the sentence extracted from 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: Sixteen different p16 germline mutations were found in 21 families , while one germline mutation , Arg24His , was detected in the CDK4 gene . ### Output Text:
Sixteen different p16 germline mutations were found in 21 families , while one germline mutation , Arg24His , was detected in the CDK4 gene .
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: The frequency of p16 gene mutation in our sample ( 44 % ) is among the highest rates yet reported and the CDK4 mutation is the second mutation detected in this gene worldwide . ### Output Text:
The frequency of p16 gene mutation in our sample ( 44 % ) is among the highest rates yet reported and the CDK4 mutation is the second mutation detected in this gene worldwide .
In the sentence extracted from 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 summary , our results show frequent involvement of the p16 gene in familial melanoma and confirm the role of the CDK4 gene as a melanoma - predisposing gene . . ### Output Text:
In summary , our results show frequent involvement of the p16 gene in <span class="disease">familial melanoma</span> and confirm the role of the CDK4 gene as a <span class="disease">melanoma</span> - predisposing gene . .
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: Progression of somatic CTG repeat length heterogeneity in the blood cells of myotonic dystrophy patients . ### Output Text:
Progression of somatic CTG repeat length heterogeneity in the blood cells of <span class="disease">myotonic dystrophy</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. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: The genetic basis of myotonic dystrophy ( DM ) is the expansion of an unstable CTG repeat in the 34 UTR of the DM protein kinase gene on chromosome 19 . ### Output Text:
The genetic basis of <span class="disease">myotonic dystrophy</span> ( <span class="disease">DM</span> ) is the expansion of an unstable CTG repeat in the 34 UTR of the <span class="disease">DM</span> protein kinase gene on chromosome 19 .
In the sentence extracted from 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: One of the principal features of the DM mutation is an extraordinarily high level of somatic mosaicism , due to an extremely high degree of somatic instability both within and between different tissues . ### Output Text:
One of the principal features of the <span class="disease">DM</span> mutation is an extraordinarily high level of somatic mosaicism , due to an extremely high degree of somatic instability both within and between different tissues .
In the sentence extracted from 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: This instability appears to be biased towards further expansion and continuous throughout the life of an individual , features that could be associated with the progressive nature of the disease . ### Output Text:
This instability appears to be biased towards further expansion and continuous throughout the life of an individual , features that could be associated with the progressive nature 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: Although increasing measured allele size between patients clearly correlates with an increased severity of symptoms and an earlier age of onset , this correlation is not precise and measured allele length cannot be used as an accurate predictor of age of onset . ### Output Text:
Although increasing measured allele size between patients clearly correlates with an increased severity of symptoms and an earlier age of onset , this correlation is not precise and measured allele length cannot be used as an accurate predictor of age of onset .
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: In order to further characterize the dynamics of DM CTG repeat somatic instability , we have studied repeat length changes over time in 111 myotonic dystrophy patients with varying clinical severity and CTG repeat size over time intervals of 1 - 7 years . ### Output Text:
In order to further characterize the dynamics of <span class="disease">DM</span> CTG repeat somatic instability , we have studied repeat length changes over time in 111 <span class="disease">myotonic dystrophy</span> patients with varying clinical severity and CTG repeat size over time intervals of 1 - 7 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: We have found a direct progression of the size heterogeneity over time related to initial CTG repeat size and the time interval and always biased towards further expansion . ### Output Text:
We have found a direct progression of the size heterogeneity over time related to initial CTG repeat size and the time interval and always biased towards further 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. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: Attempts to mathematically model the dynamics have proved only partially successful suggesting that individual specific genetic and / or environmental factors also play a role in somatic mosaicism . . ### Output Text:
Attempts to mathematically model the dynamics have proved only partially successful suggesting that individual specific genetic and / or environmental factors also play a role in somatic mosaicism . .
In the sentence extracted from 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: Aspartylglucosaminuria among Palestinian Arabs . ### Output Text:
<span class="disease">Aspartylglucosaminuria</span> among Palestinian Arabs .
In the sentence extracted from 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: Aspartylglucosaminuria ( AGU ) is a rare disorder of glycoprotein metabolism caused by the deficiency of the lysosomal enzyme aspartylglucosaminidase ( AGA ) . ### Output Text:
<span class="disease">Aspartylglucosaminuria</span> ( <span class="disease">AGU</span> ) is a rare <span class="disease">disorder of glycoprotein metabolism</span> caused by the <span class="disease">deficiency of the lysosomal enzyme aspartylglucosaminidase</span> ( AGA ) .
In the sentence extracted from 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: AGU is inherited as an autosomal recessive trait and occurs with a high frequency in Finland because of a founder effect . ### Output Text:
<span class="disease">AGU</span> is inherited as an autosomal recessive trait and occurs with a high frequency in Finland because of a founder effect .
In the sentence extracted from 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: While very few patients with AGU have been reported from non - Finnish origin , we diagnosed the disorder in 8 patients originating from 3 unrelated families , all Palestinian Arabs from the region of Jerusalem . ### Output Text:
While very few patients with <span class="disease">AGU</span> have been reported from non - Finnish origin , we diagnosed the disorder in 8 patients originating from 3 unrelated families , all Palestinian Arabs from the region of Jerusalem .
In the sentence extracted from 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 diagnosis of AGU is often difficult , in particular early in the course of the disease , and most of the patients are diagnosed after the age of 5 years . ### Output Text:
The clinical diagnosis of <span class="disease">AGU</span> is often difficult , in particular early in the course of the disease , and most of the patients are diagnosed after the age of 5 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: However , since these patients excrete early large amounts of aspartylglucosamine in urine , biochemical screening is easy by urine chromatography . . ### Output Text:
However , since these patients excrete early large amounts of aspartylglucosamine in urine , biochemical screening is easy by urine chromatography . .
In the sentence extracted from 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: Detection of heterozygous carriers of the ataxia - telangiectasia ( ATM ) gene by G2 phase chromosomal radiosensitivity of peripheral blood lymphocytes . ### Output Text:
Detection of heterozygous carriers of the <span class="disease">ataxia - telangiectasia</span> ( ATM ) gene by G2 phase chromosomal radiosensitivity of peripheral blood lymphocytes .
In the sentence extracted from 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 ataxia - telangiectasia ( A - T ) patients , mutations in a single gene , ATM , result in an autosomal recessive syndrome that embraces a variety of clinical features and manifests extreme radiosensitivity and a strong pre - disposition to malignancy . ### Output Text:
In <span class="disease">ataxia - telangiectasia</span> ( <span class="disease">A - T</span> ) patients , mutations in a single gene , ATM , result in an <span class="disease">autosomal recessive syndrome</span> that embraces a variety of clinical features and manifests extreme radiosensitivity and a strong pre - disposition to <span class="disease">malignancy</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: Heterozygotes for the ATM gene have no clinical expression of A - T but may be cancer prone with a moderate increase in in vitro radiosensitivity . ### Output Text:
Heterozygotes for the ATM gene have no clinical expression of <span class="disease">A - T</span> but may be <span class="disease">cancer</span> prone with a moderate increase in in vitro radiosensitivity .
In the sentence extracted from 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 performed a blind chromosomal analysis on G2 - phase lymphocytes from 7 unrelated A - T patients , 13 obligate A - T heterozygotes ( parents of the patients ) , and 14 normal controls following X - irradiation with 1 Gy in order to evaluate this cytogenetic method as a tool for detection of ATM carriers . ### Output Text:
We performed a blind chromosomal analysis on G2 - phase lymphocytes from 7 unrelated <span class="disease">A - T</span> patients , 13 obligate <span class="disease">A - T</span> heterozygotes ( parents of the patients ) , and 14 normal controls following X - irradiation with 1 Gy in order to evaluate this cytogenetic method as a tool for detection of ATM carriers .
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: Both A - T homozygotes and heterozygotes showed significantly increased levels of radiation - induced chromatid damage relative to that of normal controls . ### Output Text:
Both <span class="disease">A - T</span> homozygotes and heterozygotes showed significantly increased levels of radiation - induced chromatid damage relative to that of normal 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. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: These results show that the G2 - phase chromosomal radiosensitivity assay can be used for the detection of A - T heterozygotes . ### Output Text:
These results show that the G2 - phase chromosomal radiosensitivity assay can be used for the detection of <span class="disease">A - T</span> heterozygotes .
In the sentence extracted from 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 combination with molecular genetic analyses , this test may be of value in studies of familial and sporadic cancers aimed at determination of the potential involvement of ATM mutations in tumor risk or development . . ### Output Text:
In combination with molecular genetic analyses , this test may be of value in studies of <span class="disease">familial and sporadic cancers</span> aimed at determination of the potential involvement of ATM mutations in <span class="disease">tumor</span> risk or development . .
In the sentence extracted from 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: Ataxia - telangiectasia : identification and detection of founder - effect mutations in the ATM gene in ethnic populations . ### Output Text:
<span class="disease">Ataxia - telangiectasia</span> : identification and detection of founder - effect mutations in the ATM gene in ethnic 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: To facilitate the evaluation of ATM heterozygotes for susceptibility to other diseases , such as breast cancer , we have attempted to define the most common mutations and their frequencies in ataxia - telangiectasia ( A - T ) homozygotes from 10 ethnic populations . ### Output Text:
To facilitate the evaluation of ATM heterozygotes for susceptibility to other diseases , such as <span class="disease">breast cancer</span> , we have attempted to define the most common mutations and their frequencies in <span class="disease">ataxia - telangiectasia</span> ( <span class="disease">A - T</span> ) homozygotes from 10 ethnic 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: Both genomic mutations and their effects on cDNA were characterized . ### Output Text:
Both genomic mutations and their effects on cDNA were characterized .
In the sentence extracted from 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: Protein - truncation testing of the entire ATM cDNA detected 92 ( 66 % ) truncating mutations in 140 mutant alleles screened . ### Output Text:
Protein - truncation testing of the entire ATM cDNA detected 92 ( 66 % ) truncating mutations in 140 mutant alleles screened .
In the sentence extracted from biomedical literature, identify all the disease entities. The required answer format is the same sentence with HTML <span> tags to mark up specific entities. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: The haplotyping of patients with identical mutations indicates that almost all of these represent common ancestry and that very few spontaneously recurring ATM mutations exist . ### Output Text:
The haplotyping of patients with identical mutations indicates that almost all of these represent common ancestry and that very few spontaneously recurring ATM mutations exist .
In the sentence extracted from 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: Assays requiring minimal amounts of genomic DNA were designed to allow rapid screening for common ethnic mutations . ### Output Text:
Assays requiring minimal amounts of genomic DNA were designed to allow rapid screening for common ethnic 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: These rapid assays detected mutations in 76 % of Costa Rican patients ( 3 ) , 50 % of Norwegian patients ( 1 ) , 25 % of Polish patients ( 4 ) , and 14 % of Italian patients ( 1 ) , as well as in patients of Amish / Mennonite and Irish English backgrounds . ### Output Text:
These rapid assays detected mutations in 76 % of Costa Rican patients ( 3 ) , 50 % of Norwegian patients ( 1 ) , 25 % of Polish patients ( 4 ) , and 14 % of Italian patients ( 1 ) , as well as in patients of Amish / Mennonite and Irish English backgrounds .
In the sentence extracted from 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: Additional mutations were observed in Japanese , Utah Mormon , and African American patients . ### Output Text:
Additional mutations were observed in Japanese , Utah Mormon , and African American 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. ### Entity Markup Guides: Use <span class="disease"> to denote a disease. ### Input Text: These assays should facilitate screening for A - T heterozygotes in the populations studied . . ### Output Text:
These assays should facilitate screening for <span class="disease">A - T</span> heterozygotes in the populations studied . .