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PubMed 9724771 The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history. Classical familial adenomatous polyposis (FAP) is a high-penetrance autosomal dominant d 1.69 KB 2015-11-27 27 8
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PubMed 8931695 Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia. Mutations in the diastrophic dysplasia sulfate transporter gene DTDST have been associated with a family of 1.82 KB 2015-11-27 35 5
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PubMed 9869602 Prevalence of the I1307K APC gene variant in Israeli Jews of differing ethnic origin and risk for colorectal cancer. BACKGROUND & AIMS: Israeli Jews of European birth, i.e., Ashkenazim, have the highe 1.38 KB 2015-11-28 26 5
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PubMed 2006152 Founder effect of a prevalent phenylketonuria mutation in the Oriental population. A missense mutation has been identified in the human phenylalanine hydroxylase [PAH; phenylalanine 4-monooxygenase; L 1.53 KB 2015-11-25 13 5
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PubMed 9731533 The APCI1307K allele and cancer risk in a community-based study of Ashkenazi Jews. Mutations in APC are classically associated with familial adenomatous polyposis (FAP), a highly penetrant autosomal d 1013 Bytes 2015-11-27 27 5
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PubMed 9973276 Inherited colorectal polyposis and cancer risk of the APC I1307K polymorphism. Germ-line and somatic truncating mutations of the APC gene are thought to initiate colorectal tumor formation in familial 1.51 KB 2015-11-27 27 10
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PubMed 7937795 Genetic instability in human ovarian cancer cell lines. We have analyzed the stability of microsatellites in cell lines derived from human ovarian cancers and found that 5 out of 10 of the ovarian tum 1.53 KB 2015-11-27 11 5
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PubMed 8968716 BRCA1 R841W: a strong candidate for a common mutation with moderate phenotype. BRCA1 mutations cause increased risk for breast and ovarian cancer, frequently of early onset. Many different mutations o 1.53 KB 2015-11-27 27 10
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PubMed 8956035 Independent origin of single and double mutations in the human glucose 6-phosphate dehydrogenase gene. The vast majority of both polymorphic and sporadic G6PD variants are due to single missense mutat 1.38 KB 2015-11-27 28 3
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PubMed 1361100 Multiple origins for phenylketonuria in Europe. Phenylketonuria (PKU), a disorder of amino acid metabolism prevalent among Caucasians and other ethnic groups, is caused primarily by a deficiency of th 1.39 KB 2015-11-18 12 3
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