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 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
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 GeneticVariation disease UNIPROT A novel mild variant of osteogenesis imperfecta type I caused by a Gly1088Glu mutation in COL1A1. 24682174 2014
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		1.000 CausalMutation disease CLINVAR Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta. 24668929 2014
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		1.000 GeneticVariation disease 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 		1.000 AlteredExpression disease BEFREE COL1A1 and miR-29b showed lower expression values in OI type I and type III samples. 24767406 2014
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		1.000 CausalMutation disease 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 		1.000 CausalMutation disease 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 		1.000 CausalMutation disease 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 		1.000 CausalMutation disease CLINVAR Skeletal clinical characteristics of osteogenesis imperfecta caused by haploinsufficiency mutations in COL1A1. 23529829 2013
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		1.000 GeneticVariation disease BEFREE COL1A1 haploinsufficiency mutations lead to the mildest form of osteogenesis imperfecta (OI), OI type I. 23529829 2013
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 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 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 The missense mutation c.3235G>A was identified within exon 45 of the COL1A1 gene in a 16-year-old girl diagnosed as having OI type I; it resulted in substitution of a glycine residue (G) by a serine (S) at codon 1079 (p.G1079S). 23079818 2012
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		1.000 GeneticVariation disease BEFREE Osteogenesis imperfecta type I: second-trimester diagnosis and incidental identification of a dominant COL1A1 deletion mutation in the paucisymptomatic father. 22795108 2012
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		1.000 CausalMutation disease CLINVAR A novel splicing mutation in COL1A1 gene caused type I osteogenesis imperfecta in a Chinese family. 22565191 2012