RBP4, retinol binding protein 4, 5950

N. diseases: 217; N. variants: 15
Disease: Microphthalmos ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.110 CausalMutation disease CLINVAR Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns. 29178648 2017
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.110 GeneticVariation disease BEFREE Finally, a heterozygous missense mutation in RBP4 was found to be responsible in an isolated case of bilateral complex microphthalmia. 29178648 2017
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.110 Biomarker disease HPO