Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		0.600 Biomarker disease GENOMICS_ENGLAND Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome. 27011056 2016
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		0.600 Biomarker disease GENOMICS_ENGLAND Mice with a deletion in the first intron of the Col1a1 gene develop age-dependent aortic dissection and rupture. 14630726 2004
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		0.600 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 		0.600 Biomarker disease GENOMICS_ENGLAND Characterization of a COL1A1 splicing defect in a case of Ehlers-Danlos syndrome type VII: further evidence of molecular homogeneity. 1867198 1991
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		0.600 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		0.600 Biomarker disease CTD_human
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		0.600 CausalMutation disease CLINVAR
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		0.600 GeneticVariation disease CLINVAR
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.400 Biomarker disease GENOMICS_ENGLAND Total absence of the alpha2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems. 16816023 2006
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.400 CausalMutation disease CLINVAR
Entrez Id: 213
Gene Symbol: ALB
ALB 		0.100 CausalMutation disease CLINVAR