DisGeNET5_variant_disease Home  

Documents (31,966) JSON TSV

source DB source ID text size updated at # proj. # Ann. updated_at
PubMed 2783132 Pro----leu change at position 102 of prion protein is the most common but not the sole mutation related to Gerstmann-Sträussler syndrome. The host-encoded prion protein (PrP) is a component of transmi 923 Bytes 2015-11-26 5 3
-
PubMed 2152885 A case of Fabry's disease in a patient with no alpha-galactosidase A activity caused by a single amino acid substitution of Pro-40 by Ser. We analyzed a male patient with Fabry's disease who had no ac 887 Bytes 2015-03-12 3 3
-
PubMed 2303461 A missense mutation at Ile172----Asn or Arg356----Trp causes steroid 21-hydroxylase deficiency. Congenital adrenal hyperplasia (CAH) is a common recessive genetic disease caused mainly by steroid 21-h 1.32 KB 2015-11-27 29 5
-
PubMed 2313204 Genetic heterogeneity in familial dysbetalipoproteinemia. The E2(lys146----gln) variant results in a dominant mode of inheritance. As determined by isoelectric focusing, most patients with familial dy 1.79 KB 2015-11-26 4 3
-
PubMed 2120217 Molecular basis of tyrosinase-negative oculocutaneous albinism. A single base mutation in the tyrosinase gene causing arginine to glutamine substitution at position 59. Tyrosinase-negative oculocutane 1.38 KB 2015-11-25 30 6
-
PubMed 1978553 A termination mutant prevalent in Norwegian haplotype 7 phenylketonuria genes. RFLPs in the phenylalanine hydroxylase (PAH) gene locus were determined in 47 Norwegian nuclear families that had at leas 934 Bytes 2015-11-25 6 3
-
PubMed 2263616 Molecular analysis of human argininosuccinate lyase: mutant characterization and alternative splicing of the coding region. Argininosuccinic acid lyase (ASAL) deficiency is a clinically heterogeneous 1.84 KB 2016-01-08 4 5
-
PubMed 2265255 Molecular basis for alpha-thalassemia associated with the structural mutant hemoglobin Suan-Dok (alpha 2 109leu----arg) Hemoglobin (Hb) Suan-Dok (alpha 109Arg) is a rare alpha-globin structural mutati 1.22 KB 2015-11-26 3 5
-
PubMed 2176481 Gelsolin variant (Asn-187) in familial amyloidosis, Finnish type. Familial amyloidosis, Finnish type (FAF), is an inherited form of systemic amyloidosis clinically characterized by cranial neuropathy 1.18 KB 2015-11-26 12 3
-
PubMed 1703489 Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease. We have isolated a 2.1 kb cDNA which encodes human aspartylglucosaminidase (AGA, E.C. 1.27 KB 2015-11-23 7 3
-