COL1A1, collagen type I alpha 1 chain, 1277

N. diseases: 487; N. variants: 337
Disease: Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0220679
Disease: Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified 		0.300 GermlineCausalMutation disease ORPHANET Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen. 10739762 2000