COL1A1, collagen type I alpha 1 chain, 1277

N. diseases: 487; N. variants: 337
Disease: Blue sclera ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0542514
Disease: Blue sclera
Blue sclera 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0542514
Disease: Blue sclera
Blue sclera 		0.100 CausalMutation phenotype CLINVAR
CUI: C0542514
Disease: Blue sclera
Blue sclera 		0.100 Biomarker phenotype HPO