RBP4, retinol binding protein 4, 5950

N. diseases: 217; N. variants: 15
Disease: Microphthalmia associated with colobomatous cyst ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931501
Disease: Microphthalmia associated with colobomatous cyst
Microphthalmia associated with colobomatous cyst 		0.300 GermlineCausalMutation phenotype ORPHANET Biochemical Basis for Dominant Inheritance, Variable Penetrance, and Maternal Effects in RBP4 Congenital Eye Disease. 25910211 2015