Gene: COL1A1 ×
Source: CLINVAR ×
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 Delineation of Ehlers-Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation in COL1A1: Report on a three-generation family without cardiovascular events, and literature review. 28102596 2017
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		1.000 CausalMutation disease CLINVAR Molecular diagnosis in children with fractures but no extraskeletal signs of osteogenesis imperfecta. 28378289 2017
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		1.000 CausalMutation disease CLINVAR Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta - A retrospective cohort study. 28498836 2017
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		1.000 CausalMutation disease CLINVAR Mutational analysis of COL1A1 and COL1A2 genes among Estonian osteogenesis imperfecta patients. 28810924 2017
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		1.000 CausalMutation disease CLINVAR Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes. 27510842 2017
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		1.000 CausalMutation disease CLINVAR Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta. 28116328 2017
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		1.000 CausalMutation disease CLINVAR Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma. 27484908 2016
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		1.000 CausalMutation disease CLINVAR Identification of two recurrent mutations of COL1A1 gene in Chinese Van der Hoeve syndrome patients. 27044453 2016
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 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 Clinical characteristics and the identification of novel mutations of COL1A1 and COL1A2 in 61 Chinese patients with osteogenesis imperfecta. 27748872 2016
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		1.000 CausalMutation disease CLINVAR DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum. 27509835 2016
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		1.000 GeneticVariation disease CLINVAR Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta. 27519266 2016
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		1.000 CausalMutation disease CLINVAR Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta. 27519266 2016
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		1.000 GeneticVariation disease CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		1.000 CausalMutation disease CLINVAR Molecular Outcome, Prediction, and Clinical Consequences of Splice Variants in COL1A1, Which Encodes the proα1(I) Chains of Type I Procollagen. 25963598 2015
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		1.000 CausalMutation disease CLINVAR Genotype and phenotype analysis of Taiwanese patients with osteogenesis imperfecta. 26627451 2015
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		1.000 CausalMutation disease CLINVAR Ultrastructural and histological findings on examination of skin in osteogenesis imperfecta: a novel study. 25436829 2015
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		1.000 CausalMutation disease CLINVAR Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. 26177859 2015
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		1.000 CausalMutation disease CLINVAR Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. 25944380 2015
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		1.000 CausalMutation disease CLINVAR Osteogenesis imperfecta Type I caused by a novel mutation in the start codon of the COL1A1 gene in a Korean family. 25696019 2015
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		1.000 CausalMutation disease CLINVAR Bulbous epiphysis and popcorn calcification as related to growth plate differentiation in osteogenesis imperfecta. 26604951 2015
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		1.000 CausalMutation disease CLINVAR Spontaneous ruptured dissection of the right common iliac artery in a patient with classic Ehlers-Danlos syndrome phenotype. 25597651 2015
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		1.000 CausalMutation disease CLINVAR Two Japanese familial cases of Caffey disease with and without the common COL1A1 mutation and normal bone density, and review of the literature. 24390061 2014
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		1.000 GeneticVariation disease CLINVAR Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta. 24668929 2014