FRMD4A, FERM domain containing 4A, 55691

N. diseases: 71; N. variants: 28
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs7081208
rs7081208
Entrez Id: 55691
Gene Symbol: FRMD4A
FRMD4A
CUI: C0002395
Disease:
Alzheimer's Disease
0.800 GeneticVariation GWASDB Genome-wide haplotype association study identifies the FRMD4A gene as a risk locus for Alzheimer's disease. 22430674 2013
dbSNP: rs11258533
rs11258533
Entrez Id: 55691
Gene Symbol: FRMD4A
FRMD4A
CUI: C0014772
Disease:
Red Blood Cell Count measurement
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs11258541
rs11258541
Entrez Id: 55691
Gene Symbol: FRMD4A
FRMD4A
CUI: C0427460
Disease:
Red cell distribution width determination
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs11258541
rs11258541
Entrez Id: 55691
Gene Symbol: FRMD4A
FRMD4A
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1218412
rs1218412
Entrez Id: 55691
Gene Symbol: FRMD4A
FRMD4A
CUI: C0523465
Disease:
Serum albumin measurement
0.700 GeneticVariation GWASDB Genome-wide association study identifies multiple loci influencing human serum metabolite levels. 22286219 2012
dbSNP: rs17153734
rs17153734
Entrez Id: 55691
Gene Symbol: FRMD4A
FRMD4A
CUI: C1837461
Disease:
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs17153734
rs17153734
Entrez Id: 55691
Gene Symbol: FRMD4A
FRMD4A
CUI: C0410702
Disease:
Adolescent idiopathic scoliosis
0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs2169323
rs2169323
Entrez Id: 55691;101928453
Gene Symbol: FRMD4A;LOC101928453
FRMD4A;LOC101928453
CUI: C0005890
Disease:
Body Height
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs41506144
rs41506144
Entrez Id: 55691
Gene Symbol: FRMD4A
FRMD4A
CUI: C0008350
Disease:
Cholelithiasis
0.700 GeneticVariation GWASDB A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease. 17632509 2007
dbSNP: rs41506144
rs41506144
Entrez Id: 55691
Gene Symbol: FRMD4A
FRMD4A
CUI: C0947622
Disease:
Cholecystolithiasis
0.700 GeneticVariation GWASDB A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease. 17632509 2007
dbSNP: rs12220909
rs12220909
Entrez Id: 55691;100422843
Gene Symbol: FRMD4A;MIR4293
FRMD4A;MIR4293
CUI: C0279626
Disease:
Squamous cell carcinoma of esophagus
0.020 GeneticVariation BEFREE This study provides the first evidence that miR-449b rs10061133 and miR-4293 rs12220909 are associated with ESCC risk in Chinese population. 26055141 2015
dbSNP: rs12220909
rs12220909
Entrez Id: 55691;100422843
Gene Symbol: FRMD4A;MIR4293
FRMD4A;MIR4293
CUI: C0279626
Disease:
Squamous cell carcinoma of esophagus
0.020 GeneticVariation BEFREE Genetic variants in regulatory regions of some miRNAs might be involved in non-small cell lung cancer susceptibility and survival. rs12220909 (G/C) genetic polymorphism in miR-4293 has been shown to be associated with decreased risk of esophageal squamous cell carcinoma. 28410417 2017
dbSNP: rs12220909
rs12220909
Entrez Id: 55691;100422843
Gene Symbol: FRMD4A;MIR4293
FRMD4A;MIR4293
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma
0.010 GeneticVariation BEFREE However, the influence of rs12220909 genetic variation on non-small cell lung cancer</span> susceptibility has n</span>ot been reported. 28410417 2017
dbSNP: rs12220909
rs12220909
Entrez Id: 55691;100422843
Gene Symbol: FRMD4A;MIR4293
FRMD4A;MIR4293
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE Our findings did not support an association between miR-100 rs1834306, miR-124-1 rs531564, miR-605 rs2043556 and miR-4293 rs12220909 polymorphism and the risk of BC. 29317318 2018
dbSNP: rs12220909
rs12220909
Entrez Id: 55691;100422843
Gene Symbol: FRMD4A;MIR4293
FRMD4A;MIR4293
CUI: C2931822
Disease:
Nasopharyngeal carcinoma
0.010 GeneticVariation BEFREE In this study, we analyzed associations between eight SNPs in miRNA mature sequences (i.e., rs3746444T>C in hsa-mir-499, rs4919510C>G in hsa-mir-608, rs13299349G>A in hsa-mir-3152, rs12220909G>C in hsa-mir-4293, rs2168518G>A in hsa-mir-4513, rs8078913T>C in hsa-mir-4520a, rs11237828T>C in hsa-mir-5579, and rs9295535T>C in hsa-mir-5689) and NPC susceptibility in southern China with 906 NPC cases and 1072 cancer-free controls, and validated the significant findings in eastern China with 684 cases and 907 healthy controls. 25861865 2015
dbSNP: rs12220909
rs12220909
Entrez Id: 55691;100422843
Gene Symbol: FRMD4A;MIR4293
FRMD4A;MIR4293
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE Our findings did not support an association between miR-100 rs1834306, miR-124-1 rs531564, miR-605 rs2043556 and miR-4293 rs12220909 polymorphism and the risk of BC. 29317318 2018
dbSNP: rs4424567
rs4424567
Entrez Id: 55691
Gene Symbol: FRMD4A
FRMD4A
CUI: C0028043
Disease:
Nicotine Dependence
0.010 GeneticVariation BEFREE Also, we found two SNPs significantly associated with ND; one in the FERM domain containing 4A (rs4424567, p value(meta) = 2.30 × 10(-6)) and the other at 7q31.1 (rs848353, p value(meta) = 9.16 × 10(-8)). 22006218 2012
dbSNP: rs7081208
rs7081208
Entrez Id: 55691
Gene Symbol: FRMD4A
FRMD4A
CUI: C0002395
Disease:
Alzheimer's Disease
A 0.800 GeneticVariation GWASCAT Genome-wide haplotype association study identifies the FRMD4A gene as a risk locus for Alzheimer's disease. 22430674 2013
dbSNP: rs10906564
rs10906564
Entrez Id: 55691
Gene Symbol: FRMD4A
FRMD4A
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
A 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs2446581
rs2446581
Entrez Id: 55691
Gene Symbol: FRMD4A
FRMD4A
CUI: C0002395
Disease:
Alzheimer's Disease
A 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identifies the FRMD4A gene as a risk locus for Alzheimer's disease. 22430674 2013
dbSNP: rs2457840
rs2457840
Entrez Id: 55691
Gene Symbol: FRMD4A
FRMD4A
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
A 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs4750407
rs4750407
Entrez Id: 55691
Gene Symbol: FRMD4A
FRMD4A
CUI: C0265240
Disease:
Goldenhar Syndrome
A 0.700 GeneticVariation GWASCAT Genome-wide association study identifies multiple susceptibility loci for craniofacial microsomia. 26853712 2016
dbSNP: rs7074945
rs7074945
Entrez Id: 55691
Gene Symbol: FRMD4A
FRMD4A
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
A 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs10906522
rs10906522
Entrez Id: 55691
Gene Symbol: FRMD4A
FRMD4A
CUI: C0678222
Disease:
Breast Carcinoma
C 0.700 GeneticVariation GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683 2017
dbSNP: rs11258793
rs11258793
Entrez Id: 55691
Gene Symbol: FRMD4A
FRMD4A
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
C 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017