Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1290
Gene Symbol: COL5A2
COL5A2 		0.300 GermlineCausalMutation disease ORPHANET Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria. 22696272 2012
Entrez Id: 1289
Gene Symbol: COL5A1
COL5A1 		0.300 GermlineCausalMutation disease ORPHANET Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria. 22696272 2012
Entrez Id: 1289
Gene Symbol: COL5A1
COL5A1 		0.300 GermlineCausalMutation disease ORPHANET The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients. 15580559 2005
Entrez Id: 1290
Gene Symbol: COL5A2
COL5A2 		0.300 GermlineCausalMutation disease ORPHANET The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients. 15580559 2005
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		0.300 GermlineCausalMutation disease ORPHANET Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen. 10739762 2000