RBP4, retinol binding protein 4, 5950

N. diseases: 217; N. variants: 15
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918584
rs121918584
Entrez Id: 5950;338557
Gene Symbol: RBP4;FFAR4
RBP4;FFAR4
CUI: C3554593
Disease:
RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME 		0.800 GeneticVariation UNIPROT Exome analysis identified a novel mutation in the RBP4 gene in a consanguineous pedigree with retinal dystrophy and developmental abnormalities. 23189188 2012
dbSNP: rs121918585
rs121918585
Entrez Id: 5950;338557
Gene Symbol: RBP4;FFAR4
RBP4;FFAR4
CUI: C3554593
Disease:
RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME 		0.800 GeneticVariation UNIPROT Exome analysis identified a novel mutation in the RBP4 gene in a consanguineous pedigree with retinal dystrophy and developmental abnormalities. 23189188 2012
dbSNP: rs121918584
rs121918584
Entrez Id: 5950;338557
Gene Symbol: RBP4;FFAR4
RBP4;FFAR4
CUI: C3554593
Disease:
RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME 		0.800 GeneticVariation UNIPROT Biochemical but not clinical vitamin A deficiency results from mutations in the gene for retinol binding protein. 10232633 1999
dbSNP: rs121918584
rs121918584
Entrez Id: 5950;338557
Gene Symbol: RBP4;FFAR4
RBP4;FFAR4
CUI: C3554593
Disease:
RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME 		0.800 GeneticVariation UNIPROT Phenotype in retinol deficiency due to a hereditary defect in retinol binding protein synthesis. 9888420 1999
dbSNP: rs121918585
rs121918585
Entrez Id: 5950;338557
Gene Symbol: RBP4;FFAR4
RBP4;FFAR4
CUI: C3554593
Disease:
RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME 		0.800 GeneticVariation UNIPROT Phenotype in retinol deficiency due to a hereditary defect in retinol binding protein synthesis. 9888420 1999
dbSNP: rs121918585
rs121918585
Entrez Id: 5950;338557
Gene Symbol: RBP4;FFAR4
RBP4;FFAR4
CUI: C3554593
Disease:
RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME 		0.800 GeneticVariation UNIPROT Biochemical but not clinical vitamin A deficiency results from mutations in the gene for retinol binding protein. 10232633 1999
dbSNP: rs121918584
rs121918584
Entrez Id: 5950;338557
Gene Symbol: RBP4;FFAR4
RBP4;FFAR4
CUI: C3554593
Disease:
RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121918585
rs121918585
Entrez Id: 5950;338557
Gene Symbol: RBP4;FFAR4
RBP4;FFAR4
CUI: C3554593
Disease:
RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME 		T 0.800 CausalMutation CLINVAR
dbSNP: rs794726861
rs794726861
Entrez Id: 5950;338557
Gene Symbol: RBP4;FFAR4
RBP4;FFAR4
CUI: C4225330
Disease:
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10 		0.800 GeneticVariation UNIPROT
dbSNP: rs794726861
rs794726861
Entrez Id: 5950;338557
Gene Symbol: RBP4;FFAR4
RBP4;FFAR4
CUI: C4225330
Disease:
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10 		T 0.800 CausalMutation CLINVAR
dbSNP: rs794726862
rs794726862
Entrez Id: 5950;338557
Gene Symbol: RBP4;FFAR4
RBP4;FFAR4
CUI: C4225330
Disease:
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10 		T 0.800 CausalMutation CLINVAR
dbSNP: rs794726862
rs794726862
Entrez Id: 5950;338557
Gene Symbol: RBP4;FFAR4
RBP4;FFAR4
CUI: C4225330
Disease:
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10 		0.800 GeneticVariation UNIPROT
dbSNP: rs36014035
rs36014035
Entrez Id: 5950;338557
Gene Symbol: RBP4;FFAR4
RBP4;FFAR4
CUI: C2985280
Disease:
Blood Protein Measurement 		A 0.700 GeneticVariation GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
dbSNP: rs56057449
rs56057449
Entrez Id: 5950;338557
Gene Symbol: RBP4;FFAR4
RBP4;FFAR4
CUI: C2985280
Disease:
Blood Protein Measurement 		T 0.700 GeneticVariation GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
dbSNP: rs1329285216
rs1329285216
Entrez Id: 5950;338557
Gene Symbol: RBP4;FFAR4
RBP4;FFAR4
CUI: C0026010
Disease:
Microphthalmos 		T 0.700 CausalMutation CLINVAR Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns. 29178648 2017
dbSNP: rs1329285216
rs1329285216
Entrez Id: 5950;338557
Gene Symbol: RBP4;FFAR4
RBP4;FFAR4
CUI: C0009363
Disease:
Congenital ocular coloboma (disorder) 		T 0.700 CausalMutation CLINVAR Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns. 29178648 2017
dbSNP: rs111785373
rs111785373
Entrez Id: 5950;338557
Gene Symbol: RBP4;FFAR4
RBP4;FFAR4
CUI: C4316870
Disease:
Abnormality of the eye 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs112811136
rs112811136
Entrez Id: 5950;338557
Gene Symbol: RBP4;FFAR4
RBP4;FFAR4
CUI: C3554593
Disease:
RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME 		T 0.700 CausalMutation CLINVAR
dbSNP: rs3758539
rs3758539
Entrez Id: 5950;338557
Gene Symbol: RBP4;FFAR4
RBP4;FFAR4
CUI: C0085207
Disease:
Gestational Diabetes 		0.020 GeneticVariation BEFREE The association between RBP4 rs3758539 polymorphism and GDM risk was not confirmed. 26975349 2016
dbSNP: rs3758539
rs3758539
Entrez Id: 5950;338557
Gene Symbol: RBP4;FFAR4
RBP4;FFAR4
CUI: C0085207
Disease:
Gestational Diabetes 		0.020 GeneticVariation BEFREE However, we identified two variants rs3758539 and rs34571439 associated with insulin levels and insulin resistance in women with previous GDM. 24665145 2014
dbSNP: rs370579379
rs370579379
Entrez Id: 5950;338557
Gene Symbol: RBP4;FFAR4
RBP4;FFAR4
CUI: C0007286
Disease:
Carpal Tunnel Syndrome 		0.010 GeneticVariation BEFREE Consistent results were observed for TTR disease-causing mutation Val122Ile (rs76992529) with respect to carpal tunnel syndrome (p = 6.41 × 10<sup>-6</sup>) and mononeuropathies of upper limbs (p = 1.22 × 10<sup>-5</sup>). 31659433 2019
dbSNP: rs370579379
rs370579379
Entrez Id: 5950;338557
Gene Symbol: RBP4;FFAR4
RBP4;FFAR4
CUI: C0494491
Disease:
Mononeuropathies 		0.010 GeneticVariation BEFREE Consistent results were observed for TTR disease-causing mutation Val122Ile (rs76992529) with respect to carpal tunnel syndrome (p = 6.41 × 10<sup>-6</sup>) and mononeuropathies of upper limbs (p = 1.22 × 10<sup>-5</sup>). 31659433 2019
dbSNP: rs7091052
rs7091052
Entrez Id: 5950;338557
Gene Symbol: RBP4;FFAR4
RBP4;FFAR4
CUI: C0085207
Disease:
Gestational Diabetes 		0.010 GeneticVariation BEFREE <i>RBP4</i> rs7091052 was significantly associated with GDM risk. 30805369 2019
dbSNP: rs3758539
rs3758539
Entrez Id: 5950;338557
Gene Symbol: RBP4;FFAR4
RBP4;FFAR4
CUI: C0242339
Disease:
Dyslipidemias 		0.010 GeneticVariation BEFREE Analysis of 1489 subjects (26.9% HDL-C dyslipidemia) identified rs3758539, a non-coding variant in the 5'UTR of RBP4, to be associated with HDL-C dyslipidemia (odds ratio = 1.45, 95% confidence interval = 1.08-1.97, p = 0.01). 30497399 2018
dbSNP: rs370579379
rs370579379
Entrez Id: 5950;338557
Gene Symbol: RBP4;FFAR4
RBP4;FFAR4
CUI: C0018802
Disease:
Congestive heart failure 		0.010 GeneticVariation BEFREE This clinical algorithm may be useful for identification of ATTR V122I amyloidosis in elderly African American patients with HF. 28196196 2017