DisGeNET5_variant_disease Home  

Documents (31,966) JSON TSV

source DB source ID text size updated at # proj. # Ann. updated_at
PubMed 19918264 FGFR4 Gly388Arg polymorphism and prostate cancer risk in Scottish men. Fibroblast growth factor receptor 4 (FGFR4), a member of the fibroblast growth receptor family, was recently reported to be more 1.34 KB 2015-11-25 13 5
-
PubMed 19808398 Molecular and clinical characterization of a novel SCN5A mutation associated with atrioventricular block and dilated cardiomyopathy. BACKGROUND: Increased susceptibility to dilated cardiomyopathy has 1.87 KB 2015-11-25 5 10
-
PubMed 18470323 Anticipation in familial lattice corneal dystrophy type I with R124C mutation in the TGFBI (BIGH3) gene. PURPOSE: To report the clinical, ophthalmic, and genetic characteristics for lattice corneal dy 2.08 KB 2015-11-24 38 3
-
PubMed 18457324 Genetic polymorphisms in the carbonyl reductase 3 gene CBR3 and the NAD(P)H:quinone oxidoreductase 1 gene NQO1 in patients who developed anthracycline-related congestive heart failure after childhood 2.34 KB 2015-11-24 28 5
-
PubMed 18408250 A single nucleotide polymorphism in the IRF5 promoter region is associated with susceptibility to rheumatoid arthritis in the Japanese population. OBJECTIVES: Interferon regulatory factor 5 (IRF5) is 1.87 KB 2025-10-02 14 3
-
PubMed 18050247 Identification of novel susceptibility genes in childhood-onset systemic lupus erythematosus using a uniquely designed candidate gene pathway platform. OBJECTIVE: Childhood-onset systemic lupus erythe 1.99 KB 2015-11-23 28 5
-
PubMed 17962394 Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene. AIMS: This study aimed to identify the underlying genetic defect of a large T 1.3 KB 2015-11-23 28 5
-
PubMed 17683901 An improved tetra-primer PCR approach for the detection of the FGFR3 G380R mutation responsible for achondroplasia. Achondroplasia is the most common form of dwarfism and has an incidence of approxima 1.18 KB 2015-11-23 28 3
-
PubMed 17250663 A novel mutation at the DFNA36 hearing loss locus reveals a critical function and potential genotype-phenotype correlation for amino acid-572 of TMC1. We ascertained a North American Caucasian family 1.13 KB 2015-11-23 5 3
-
PubMed 17083016 Genetic polymorphism of the binding domain of surfactant protein-A2 increases susceptibility to meningococcal disease. BACKGROUND: Meningococcal disease occurs after colonization of the nasopharynx wi 1.72 KB 2015-11-23 29 5
-