COL1A1, collagen type I alpha 1 chain, 1277

N. diseases: 487; N. variants: 337
Disease: Bleeding tendency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1458140
Disease: Bleeding tendency
Bleeding tendency 		0.300 Biomarker phenotype GENOMICS_ENGLAND Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1. 25845371 2015