Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		1.000 CausalMutation disease CLINVAR Eight mutations including 5 novel ones in the COL1A1 gene in Czech patients with osteogenesis imperfecta. 27132807 2016
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		1.000 GeneticVariation disease UNIPROT Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta. 16705691 2006
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		1.000 CausalMutation disease CLINVAR Collagen Type I Alpha 1 Mutation Causes Osteogenesis Imperfecta from Mild to Perinatal Death in a Chinese Family. 26712438 2016
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		1.000 CausalMutation disease CLINVAR Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen. 10739762 2000
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		1.000 GeneticVariation disease CLINVAR Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutations. 9443882 1998
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		1.000 CausalMutation disease CLINVAR COL1A1 mutation in an Indian child with Caffey disease. 21249479 2011
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		1.000 CausalMutation disease CLINVAR Cardiopulmonary dysfunction in the Osteogenesis imperfecta mouse model Aga2 and human patients are caused by bone-independent mechanisms. 22589248 2012
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		1.000 GeneticVariation disease BEFREE They have a more severe form of type I OI with features of EDS that represents their compound heterozygosity for two deleterious COL1A1 mutations. 28436160 2017
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		1.000 GeneticVariation disease BEFREE OI type I was linked to the alpha 1(I) gene (COL1A1) in two families, and to the alpha 2(I) gene (COL1A2) in one family. 1972760 1990
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		1.000 CausalMutation disease CLINVAR Validation of a quantitative PCR-high-resolution melting protocol for simultaneous screening of COL1A1 and COL1A2 point mutations and large rearrangements: application for diagnosis of osteogenesis imperfecta. 22753364 2012
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		1.000 GeneticVariation disease BEFREE All mutations found in OI type I were dominant and exclusively affected COL1A1 or COL1A2. 27509835 2016
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		1.000 GeneticVariation disease BEFREE The aim of this study is to find mutational patterns of COL1A1 gene that may account for the putative Van der Hoeve syndrome in the patients carrying symptoms of osteogenesis imperfecta, blue sclera, and conductive deafness. 27044453 2016
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		1.000 Biomarker disease GENOMICS_ENGLAND SSCP detection of a Gly565Val substitution in the pro alpha 1(I) collagen chain resulting in osteogenesis imperfecta type II. 8100209 1993
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		1.000 GermlineCausalMutation disease ORPHANET Nosology and classification of genetic skeletal disorders: 2010 revision. 21438135 2011
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		1.000 CausalMutation disease CLINVAR The human type I collagen mutation database. 9016532 1997
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		1.000 GeneticVariation disease UNIPROT Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV. 16786509 2006
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		1.000 GeneticVariation disease BEFREE Our data suggest that nonsense and frameshift mutations throughout most of the COL1A1 gene result in a null allele, which is associated with the predictable mild clinical phenotype, OI type 1. 8808594 1996
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		1.000 GeneticVariation disease BEFREE A mutation of the gene COL1A1 was found, which is consistent with OI type I. 20034948 2010
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		1.000 CausalMutation disease CLINVAR Targeted sequencing of a pediatric metabolic bone gene panel using a desktop semiconductor next-generation sequencer. 25086671 2014
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		1.000 GeneticVariation disease BEFREE We identified two novel mutations in COL1A1 in individuals with OI type I and POAG. 25324685 2014
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		1.000 CausalMutation disease CLINVAR The identification of novel mutations in COL1A1, COL1A2, and LEPRE1 genes in Chinese patients with osteogenesis imperfecta. 21667357 2012
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		1.000 GeneticVariation disease BEFREE Defective splicing of mRNA from one COL1A1 allele of type I collagen in nondeforming (type I) osteogenesis imperfecta. 8408653 1993
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		1.000 CausalMutation disease CLINVAR Thirty-three novel COL1A1 and COL1A2 mutations in patients with osteogenesis imperfecta types I-IV. 11317364 2001
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		1.000 GeneticVariation disease UNIPROT Two novel COL1A1 mutations in patients with osteogenesis imperfecta (OI) affect the stability of the collagen type I triple-helix. 18670065 2008
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		1.000 GeneticVariation disease BEFREE Deletion type mutations in COL1A1 that resulted in OI type I had no effect on collagen type I secretion, nor on its intracellular accumulation. 29543922 2018