Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		1.000 CausalMutation 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
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		1.000 CausalMutation CLINVAR Molecular diagnosis in children with fractures but no extraskeletal signs of osteogenesis imperfecta. 28378289

2017
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		1.000 CausalMutation 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
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		1.000 CausalMutation CLINVAR Mutational analysis of COL1A1 and COL1A2 genes among Estonian osteogenesis imperfecta patients. 28810924

2017
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		1.000 CausalMutation CLINVAR Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes. 27510842

2017
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		1.000 CausalMutation 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
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		1.000 CausalMutation CLINVAR Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma. 27484908

2016
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		1.000 CausalMutation 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
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		1.000 CausalMutation 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
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		1.000 CausalMutation 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
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		1.000 CausalMutation 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
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		1.000 CausalMutation 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
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		1.000 GeneticVariation CLINVAR Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta. 27519266

2016
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		1.000 CausalMutation CLINVAR Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta. 27519266

2016
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		1.000 GeneticVariation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545

2016
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		1.000 CausalMutation 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
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		1.000 CausalMutation CLINVAR Genotype and phenotype analysis of Taiwanese patients with osteogenesis imperfecta. 26627451

2015
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		1.000 CausalMutation CLINVAR Ultrastructural and histological findings on examination of skin in osteogenesis imperfecta: a novel study. 25436829

2015
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		1.000 CausalMutation CLINVAR Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. 26177859

2015
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		1.000 CausalMutation CLINVAR Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. 25944380

2015
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		1.000 CausalMutation 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
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		1.000 CausalMutation CLINVAR Bulbous epiphysis and popcorn calcification as related to growth plate differentiation in osteogenesis imperfecta. 26604951

2015
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		1.000 CausalMutation 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
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		1.000 CausalMutation 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
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		1.000 GeneticVariation CLINVAR Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta. 24668929

2014