RBP4, retinol binding protein 4, 5950

N. diseases: 217; N. variants: 15
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
CUI: C4225330
Disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10 		0.600 GeneticVariation disease UNIPROT Biochemical Basis for Dominant Inheritance, Variable Penetrance, and Maternal Effects in RBP4 Congenital Eye Disease. 25910211 2015
CUI: C4225330
Disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10 		0.600 CausalMutation disease CLINVAR
CUI: C4225330
Disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10 		0.600 Biomarker disease CTD_human
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.340 Biomarker disease BEFREE Although serum RBP4 levels were increased in younger women with PCOS compared with age-matched non-PCOS controls, RBP4 does not seem to be a good marker of insulin resistance or other metabolic derangements in women with PCOS. 31051472 2019
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.340 Biomarker disease BEFREE We aimed to elucidate the frequency of the SNPs in the ADIPOQ, RBP4 and BCMO1genes in a population of Caucasian Polish women with polycystic ovary syndrome (PCOS), and to evaluate the possible associations between these variants and the susceptibility to PCOS. 29428584 2018
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.340 AlteredExpression disease LHGDN In addition to elevated serum RBP4 levels in PCOS women (P < 0.05), RBP4 protein levels were significantly greater in sc and om adipose tissue of PCOS women (P < 0.05 and P < 0.05, respectively). 17456573 2007
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.340 AlteredExpression disease BEFREE In addition to elevated serum RBP4 levels in PCOS women (P < 0.05), RBP4 protein levels were significantly greater in sc and om adipose tissue of PCOS women (P < 0.05 and P < 0.05, respectively). 17456573 2007
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.340 Biomarker disease CTD_human In addition to elevated serum RBP4 levels in PCOS women (P < 0.05), RBP4 protein levels were significantly greater in sc and om adipose tissue of PCOS women (P < 0.05 and P < 0.05, respectively). 17456573 2007
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.340 AlteredExpression disease LHGDN The levels of serum RBP4 were elevated in PCOS women compared with the control (11.69 +/- 6.72 versus 7.75 +/- 5.96 microg/mL, p = 0.006). 17526940 2006
CUI: C0018801
Disease: Heart failure
Heart failure 		0.320 Biomarker disease BEFREE Limited data suggest that RBP4 promotes inflammatory damage to cardiomyocytes and participates in the development of heart failure (HF). 29972826 2018
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.320 Biomarker disease BEFREE Limited data suggest that RBP4 promotes inflammatory damage to cardiomyocytes and participates in the development of heart failure (HF). 29972826 2018
CUI: C0018801
Disease: Heart failure
Heart failure 		0.320 GeneticVariation disease BEFREE A prediction model using circulating RBP4 concentration and readily available clinical parameters accurately discriminated ATTR V122I amyloidosis from nonamyloid HF in a case-matched cohort. 28196196 2017
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.320 GeneticVariation disease BEFREE A prediction model using circulating RBP4 concentration and readily available clinical parameters accurately discriminated ATTR V122I amyloidosis from nonamyloid HF in a case-matched cohort. 28196196 2017
CUI: C0042842
Disease: Vitamin A Deficiency
Vitamin A Deficiency 		0.320 GeneticVariation disease BEFREE Bi-allelic mutations in RBP4 were identified (c.248+1G>A), consistent with a diagnosis of inherited vitamin A deficiency. 27892788 2017
CUI: C0018801
Disease: Heart failure
Heart failure 		0.320 Biomarker disease CTD_human Inhibition of G-protein-coupled Receptor Kinase 2 Prevents the Dysfunctional Cardiac Substrate Metabolism in Fatty Acid Synthase Transgenic Mice. 26670611 2016
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.320 Biomarker disease CTD_human Inhibition of G-protein-coupled Receptor Kinase 2 Prevents the Dysfunctional Cardiac Substrate Metabolism in Fatty Acid Synthase Transgenic Mice. 26670611 2016
CUI: C0042842
Disease: Vitamin A Deficiency
Vitamin A Deficiency 		0.320 Biomarker disease BEFREE Ret heterozygosity increases the incidence and severity of distal bowel aganglionosis induced by vitamin A deficiency in Rbp4(-/-) animals. 20110328 2010