ACTG1, actin gamma 1, 71

N. diseases: 291; N. variants: 20
Disease: Eye coloboma (in some patients) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4229652
Disease: Eye coloboma (in some patients)
Eye coloboma (in some patients) 		0.300 Biomarker phenotype GENOMICS_ENGLAND FISH localization of human cytoplasmic actin genes ACTB to 7p22 and ACTG1 to 17q25 and characterization of related pseudogenes. 8941379 1996