DisGeNET5_variant_disease Home  

Documents (31,966) JSON TSV

source DB source ID text size updated at # proj. # Ann. updated_at
PubMed 1618760 Identification and expression of five mutations in the human acid sphingomyelinase gene causing types A and B Niemann-Pick disease. Molecular evidence for genetic heterogeneity in the neuronopathic an 2.75 KB 2015-11-19 27 5
-
PubMed 1634225 Mild dominant osteogenesis imperfecta with intrafamilial variability: the cause is a serine for glycine alpha 1(I) 901 substitution in a type-I collagen gene. The molecular defect responsible for a ca 1.44 KB 2015-11-19 4 3
-
PubMed 1634227 Detection of two missense mutations and characterization of a repeat polymorphism in the factor VII gene (F7). The 3' portion of the coagulation factor VII gene, containing the activation and serine p 1.23 KB 2015-11-19 6 3
-
PubMed 1634232 Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyria. A deficiency in the activity of uroporp 792 Bytes 2015-11-19 6 6
-
PubMed 1520398 Molecular and prospective phenotypic characterization of a pedigree with familial Alzheimer's disease and a missense mutation in codon 717 of the beta-amyloid precursor protein gene. We present prospe 1.17 KB 2015-11-22 4 3
-
PubMed 1354642 Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor (RYR1) gene in individuals with malignant hyperthermia. Twenty-one polymorphic sequence variants of 1.21 KB 2015-11-18 6 5
-
PubMed 1510267 A cysteine-for-arginine substitution (R614C) in the human skeletal muscle calcium release channel cosegregates with malignant hyperthermia. A point mutation in the human gene for the skeletal muscle c 1.13 KB 2015-11-18 6 3
-
PubMed 1355066 Identification of a missense phenylketonuria mutation at codon 408 in Chinese. A single base transition of G to A at codon 408 of the phenylalanine hydroxylase gene is identified. This missense mutati 701 Bytes 2015-11-22 4 8
-
PubMed 1380943 Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene. The N1303K mutation was identified in the second nucleotide binding fold of the cystic fibrosis (CF) gene last year. 1.22 KB 2015-11-22 4 6
-
PubMed 8516292 Simulation of human autosomal dominant retinitis pigmentosa in transgenic mice expressing a mutated murine opsin gene. Autosomal dominant retinitis pigmentosa (ADRP), slowly progressing over decades, 1.72 KB 2015-03-12 2 3
-