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PubMed 10090526 The multiple cases of Fabry disease in a Russian family caused by an E341K amino acid substitution in the alpha-galactosidase A. A large Russian family with multiple cases of Fabry disease in several 874 Bytes 2015-11-02 3 5
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PubMed 10090670 Advanced glycation endproducts are deposited in neuronal hyaline inclusions: a study on familial amyotrophic lateral sclerosis with superoxide dismutase-1 mutation. To determine the role of advanced g 1.47 KB 2015-11-02 5 5
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PubMed 10090887 The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease. In 40 1.55 KB 2015-11-02 6 6
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PubMed 10070616 The molecular basis of transferase galactosaemia in South African negroids. Transferase galactosaemia is an autosomal recessively inherited disorder caused by a deficiency of galactose-1-phosphate uri 894 Bytes 2015-11-02 4 5
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PubMed 10073265 Genetics of hemochromatosis. Hereditary hemochromatosis (HHC) is a common autosomal recessive disorder of iron metabolism that results in progressive iron overload and can be fatal if untreated. The h 746 Bytes 2015-11-03 4 5
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PubMed 10076558 Two germline missense mutations at codons 804 and 806 of the RET proto-oncogene in the same allele in a patient with multiple endocrine neoplasia type 2B without codon 918 mutation. Multiple endocrine 966 Bytes 2015-11-03 6 3
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PubMed 10078973 Synaptic transmission and hippocampal long-term potentiation in transgenic mice expressing FAD-linked presenilin 1. Mutations in two related genes, presenilin 1 and presenilin 2 (PS1 and PS2), cause a 1.51 KB 2015-11-04 4 3
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PubMed 10088048 No coding variant of the tryptophan hydroxylase gene detected in seasonal affective disorder, obsessive-compulsive disorder, anorexia nervosa, and alcoholism. BACKGROUND: The goal of this study was to 1.74 KB 2015-11-05 3 3
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PubMed 10090481 Pathogenic presenilin 1 mutations (P436S & I143F) in early-onset Alzheimer's disease in the UK. Mutations in brief no. 223. Online. Familial Alzheimer's disease (AD) is an autosomal dominant disorder 1018 Bytes 2015-11-06 4 5
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PubMed 10097173 Unusual phenotypic alteration of beta amyloid precursor protein (betaAPP) maturation by a new Val-715 --> Met betaAPP-770 mutation responsible for probable early-onset Alzheimer's disease. We have ide 1.07 KB 2015-11-07 5 3
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