RBP4, retinol binding protein 4, 5950

N. diseases: 217; N. variants: 15
Disease: Anophthalmos ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		0.110 GeneticVariation disease BEFREE We identified missense mutations in RBP4, encoding serum retinol binding protein, in three families with eye malformations of differing severity, including bilateral anophthalmia. 25910211 2015
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		0.110 Biomarker disease HPO