ACTG1, actin gamma 1, 71

N. diseases: 291; N. variants: 20
Disease: Congenital coloboma of iris ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris 		0.400 GermlineCausalMutation disease ORPHANET A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma. 28493397 2017
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris 		0.400 Biomarker disease HPO