Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0542514
Disease: Blue sclera
Blue sclera 		0.100 GeneticVariation CLINVAR

Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0542514
Disease: Blue sclera
Blue sclera 		0.100 CausalMutation CLINVAR