COL1A1, collagen type I alpha 1 chain, 1277

N. diseases: 487; N. variants: 337
Disease: Rieger eye malformation sequence ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3495489
Disease: Rieger eye malformation sequence
Rieger eye malformation sequence 		0.010 GeneticVariation disease BEFREE Rieger's anomaly and other ocular abnormalities in association with osteogenesis imperfecta and a COL1A1 mutation. 16272059 2005