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: 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: 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
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: rs12413816
rs12413816
Entrez Id: 55691;105376426
Gene Symbol: FRMD4A;LOC105376426
FRMD4A;LOC105376426
CUI: C0427460
Disease:
Red cell distribution width determination
T 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs12413816
rs12413816
Entrez Id: 55691;105376426
Gene Symbol: FRMD4A;LOC105376426
FRMD4A;LOC105376426
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result
T 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016