FFAR4, free fatty acid receptor 4, 338557

N. diseases: 67; N. variants: 20
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: rs10882272
rs10882272
Entrez Id: 338557
Gene Symbol: FFAR4
FFAR4
CUI: C0373745
Disease:
Vitamin A measurement 		C 0.800 GeneticVariation GWASDB We replicated the association with rs10882272 in RBP4 in independent samples from the Nurses' Health Study and the Invecchiare in Chianti Study (InCHIANTI) that included 3792 women and 504 men (P =9.49× 10(-5)), but found no association for retinol with rs1667255 in TTR among women, thus suggesting evidence for gender dimorphism (P-interaction=1.31× 10(-5)). 21878437 2011
dbSNP: rs10882272
rs10882272
Entrez Id: 338557
Gene Symbol: FFAR4
FFAR4
CUI: C0373745
Disease:
Vitamin A measurement 		C 0.800 GeneticVariation GWASCAT We replicated the association with rs10882272 in RBP4 in independent samples from the Nurses' Health Study and the Invecchiare in Chianti Study (InCHIANTI) that included 3792 women and 504 men (P =9.49× 10(-5)), but found no association for retinol with rs1667255 in TTR among women, thus suggesting evidence for gender dimorphism (P-interaction=1.31× 10(-5)). 21878437 2011
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: rs11187537
rs11187537
Entrez Id: 338557
Gene Symbol: FFAR4
FFAR4
CUI: C0205682
Disease:
Waist-Hip Ratio 		C 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
dbSNP: rs11187538
rs11187538
Entrez Id: 338557
Gene Symbol: FFAR4
FFAR4
CUI: C0023508
Disease:
White Blood Cell Count procedure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs12241416
rs12241416
Entrez Id: 338557
Gene Symbol: FFAR4
FFAR4
CUI: C0205682
Disease:
Waist-Hip Ratio 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs11187537
rs11187537
Entrez Id: 338557
Gene Symbol: FFAR4
FFAR4
CUI: C0205682
Disease:
Waist-Hip Ratio 		C 0.700 GeneticVariation GWASCAT Association of Genetic Variants Related to Gluteofemoral vs Abdominal Fat Distribution With Type 2 Diabetes, Coronary Disease, and Cardiovascular Risk Factors. 30575882 2018
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: rs116454156
rs116454156
Entrez Id: 338557
Gene Symbol: FFAR4
FFAR4
CUI: C2675659
Disease:
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 10 		A 0.700 SusceptibilityMutation CLINVAR