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 Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships. 18996919

2009
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		1.000 CausalMutation CLINVAR Collagen structure and stability. 19344236

2009
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		1.000 GeneticVariation CLINVAR Collagen structure and stability. 19344236

2009
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		1.000 CausalMutation CLINVAR Audiometric, surgical, and genetic findings in 15 ears of patients with osteogenesis imperfecta. 19358256

2009
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		1.000 CausalMutation CLINVAR A G560S mutation in alpha1 (I) collagen causes familial osteogenesis imperfecta type IV. 19751715

2009
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		1.000 CausalMutation CLINVAR COL1A1 mutation in an Indian child with Caffey disease. 21249479

2011
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		1.000 CausalMutation CLINVAR LOVD v.2.0: the next generation in gene variant databases. 21520333

2011
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		1.000 CausalMutation CLINVAR Hyperuricemia cosegregating with osteogenesis imperfecta is associated with a mutation in GPATCH8. 21594610

2011
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		1.000 CausalMutation 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
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		1.000 CausalMutation CLINVAR A novel DHPLC-based procedure for the analysis of COL1A1 and COL1A2 mutations in osteogenesis imperfecta. 21884818

2011
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		1.000 CausalMutation CLINVAR Osteogenesis Imperfecta: the audiological phenotype lacks correlation with the genotype. 22206639

2011
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		1.000 CausalMutation CLINVAR A novel splicing mutation in COL1A1 gene caused type I osteogenesis imperfecta in a Chinese family. 22565191

2012
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		1.000 CausalMutation CLINVAR Osteogenesis Imperfecta: A Review with Clinical Examples. 22570641

2011
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		1.000 CausalMutation 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
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		1.000 CausalMutation 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
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		1.000 CausalMutation CLINVAR Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation. 23054245

2012
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		1.000 CausalMutation CLINVAR Variable expressivity of osteogenesis imperfecta in a Brazilian family due to p.G1079S mutation in the COL1A1 gene. 23079818

2012
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		1.000 CausalMutation CLINVAR Skeletal clinical characteristics of osteogenesis imperfecta caused by haploinsufficiency mutations in COL1A1. 23529829

2013
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		1.000 CausalMutation CLINVAR Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations. 23587214

2013
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		1.000 CausalMutation CLINVAR Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome. 23692737

2013
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		1.000 GeneticVariation CLINVAR Mutational and structural characteristics of four novel heterozygous C-propeptide mutations in the proα1(I) collagen gene in Chinese osteogenesis imperfecta patients. 24147872

2014
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 CausalMutation CLINVAR Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome. 24501682

2013
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
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		1.000 CausalMutation CLINVAR Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta. 24668929

2014