RBP4, retinol binding protein 4, 5950

N. diseases: 217; N. variants: 15
Disease: RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3554593
Disease: RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME
RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME 		0.700 Biomarker disease GENOMICS_ENGLAND Vitamin A deficiency due to bi-allelic mutation of RBP4: There's more to it than meets the eye. 27892788 2017
CUI: C3554593
Disease: RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME
RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME 		0.700 GeneticVariation disease UNIPROT Exome analysis identified a novel mutation in the RBP4 gene in a consanguineous pedigree with retinal dystrophy and developmental abnormalities. 23189188 2012
CUI: C3554593
Disease: RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME
RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME 		0.700 GermlineCausalMutation disease ORPHANET Exome analysis identified a novel mutation in the RBP4 gene in a consanguineous pedigree with retinal dystrophy and developmental abnormalities. 23189188 2012
CUI: C3554593
Disease: RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME
RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME 		0.700 GeneticVariation disease UNIPROT Biochemical but not clinical vitamin A deficiency results from mutations in the gene for retinol binding protein. 10232633 1999
CUI: C3554593
Disease: RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME
RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME 		0.700 GeneticVariation disease UNIPROT Phenotype in retinol deficiency due to a hereditary defect in retinol binding protein synthesis. 9888420 1999
CUI: C3554593
Disease: RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME
RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME 		0.700 Biomarker disease GENOMICS_ENGLAND Phenotype in retinol deficiency due to a hereditary defect in retinol binding protein synthesis. 9888420 1999
CUI: C3554593
Disease: RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME
RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME 		0.700 Biomarker disease CTD_human
CUI: C3554593
Disease: RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME
RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME 		0.700 CausalMutation disease CLINVAR