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PubMed 10594001 Mutational analysis of the HGO gene in Finnish alkaptonuria patients. Alkaptonuria (AKU), the prototypic inborn error of metabolism, has recently been shown to be caused by loss of function mutations 641 Bytes 2015-11-15 12 5
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PubMed 10736265 Glycerol as a correlate of impaired glucose tolerance: dissection of a complex system by use of a simple genetic trait. Glycerol kinase (GK) represents the primary entry of glycerol into glucose and t 2.12 KB 2015-11-21 12 3
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PubMed 10790204 Molecular basis of very long chain acyl-CoA dehydrogenase deficiency in three Israeli patients: identification of a complex mutant allele with P65L and K247Q mutations, the former being an exonic muta 1.5 KB 2015-11-21 18 5
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PubMed 10861298 Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4). The PDS gene encodes a transmembrane p 1.49 KB 2015-11-15 13 3
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PubMed 1384323 A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening. Deficiency of beta-hexosaminidase A (Hex A) activity typically results in Tay-Sachs disease. Howe 1.27 KB 2015-11-18 18 3
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PubMed 9012409 Molecular basis for Duarte and Los Angeles variant galactosemia. Human orythrocytes that are homozygous for the Duarte enzyme variant of galactosemia (D/D) have a characteristic isoform on isoelectric 1.97 KB 2015-11-27 27 5
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PubMed 8551426 A prevalent mutation for galactosemia among black Americans. OBJECTIVE: To define the mutation causing galactosemia in patients of black American origin who have no galactose-1-phosphate uridyltransfe 1.52 KB 2015-11-27 10 5
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PubMed 9463314 ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer. We report the spectrum of 59 ATM mu 1.35 KB 2015-11-27 33 5
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PubMed 1353340 Late-onset metachromatic leukodystrophy: molecular pathology in two siblings. We report on a new allele at the arylsulfatase A (ARSA) locus causing late-onset metachromatic leukodystrophy (MLD). In th 716 Bytes 2015-11-18 42 3
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PubMed 1301201 In vitro and in vivo correlations for I65T and M1V mutations at the phenylalanine hydroxylase locus. Mutations at the phenylalanine hydroxylase (PAH) locus are the major cause of hyperphenylalaninemia 965 Bytes 2015-11-18 12 5
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