FRMD4A, FERM domain containing 4A, 55691

N. diseases: 11; N. variants: 26
Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2457837
rs2457837
Entrez Id: 55691
Gene Symbol: FRMD4A
FRMD4A
CUI: C0039263
Disease:
Takayasu Arteritis
T 0.700 GeneticVariation GWASCAT Identification of Susceptibility Loci in IL6, RPS9/LILRB3, and an Intergenic Locus on Chromosome 21q22 in Takayasu Arteritis in a Genome-Wide Association Study. 25604533 2015
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: 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: 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: 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
G 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
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: 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: 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: rs869025338
rs869025338
Entrez Id: 55691
Gene Symbol: FRMD4A
FRMD4A
CUI: C4225193
Disease:
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA
CCCTGGGACTCCAG 0.700 CausalMutation CLINVAR