DisGeNET - a database of gene-disease associations

FGF12, fibroblast growth factor 12, 2257

N. diseases: 95; N. variants: 20

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs886039903

Entrez Id:	2257
Gene Symbol:	FGF12

FGF12

CUI:	C4310685
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47

0.800

GeneticVariation

UNIPROT

dbSNP:

rs886039903

Entrez Id:	2257
Gene Symbol:	FGF12

FGF12

CUI:	C4310685
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47

0.800

CausalMutation

CLINVAR

dbSNP:

rs12107377

Entrez Id:	2257
Gene Symbol:	FGF12

FGF12

CUI:	C0596887
Disease:

mathematical ability

0.700

GeneticVariation

GWASCAT

Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.

30038396

2018

dbSNP:

rs1827545

Entrez Id:	2257
Gene Symbol:	FGF12

FGF12

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs1827546

Entrez Id:	2257
Gene Symbol:	FGF12

FGF12

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs1875730

Entrez Id:	2257
Gene Symbol:	FGF12

FGF12

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs1875730

Entrez Id:	2257
Gene Symbol:	FGF12

FGF12

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs1875731

Entrez Id:	2257
Gene Symbol:	FGF12

FGF12

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs1875732

Entrez Id:	2257
Gene Symbol:	FGF12

FGF12

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs2134634

Entrez Id:	2257
Gene Symbol:	FGF12

FGF12

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs2174178

Entrez Id:	2257
Gene Symbol:	FGF12

FGF12

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs2654689

Entrez Id:	2257
Gene Symbol:	FGF12

FGF12

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs2654693

Entrez Id:	2257
Gene Symbol:	FGF12

FGF12

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs2708309

Entrez Id:	2257
Gene Symbol:	FGF12

FGF12

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs1553798675

Entrez Id:	2257
Gene Symbol:	FGF12

FGF12

CUI:	C0494475
Disease:

Tonic - clonic seizures

0.700

GeneticVariation

CLINVAR

De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy.

27872899

2016

dbSNP:

rs1553798675

Entrez Id:	2257
Gene Symbol:	FGF12

FGF12

CUI:	C0454644
Disease:

Delayed speech and language development

0.700

GeneticVariation

CLINVAR

De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy.

27872899

2016

dbSNP:

rs1553798675

Entrez Id:	2257
Gene Symbol:	FGF12

FGF12

CUI:	C0036572
Disease:

Seizures

0.700

GeneticVariation

CLINVAR

De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy.

27872899

2016

dbSNP:

rs1553798675

Entrez Id:	2257
Gene Symbol:	FGF12

FGF12

CUI:	C4310685
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47

0.700

GeneticVariation

CLINVAR

De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy.

27872899

2016

dbSNP:

rs189326995

Entrez Id:	2257
Gene Symbol:	FGF12

FGF12

CUI:	C3548479
Disease:

response to bronchodilator

0.700

GeneticVariation

GWASCAT

A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.

26634245

2015

dbSNP:

rs4453795

Entrez Id:	2257
Gene Symbol:	FGF12

FGF12

CUI:	C0523465
Disease:

Serum albumin measurement

0.700

GeneticVariation

GWASDB

Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum.

19043545

2008

dbSNP:

rs4453795

Entrez Id:	2257
Gene Symbol:	FGF12

FGF12

CUI:	C0202177
Disease:

Phospholipid measurement

0.700

GeneticVariation

GWASCAT

Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum.

19043545

2008

dbSNP:

rs886039903

Entrez Id:	2257
Gene Symbol:	FGF12

FGF12

CUI:	C0026351
Disease:

Moderate intellectual disability

0.700

CausalMutation

CLINVAR

dbSNP:

rs886039903

Entrez Id:	2257
Gene Symbol:	FGF12

FGF12

CUI:	C0856975
Disease:

Autistic behavior

0.700

CausalMutation

CLINVAR

dbSNP:

rs886039903

Entrez Id:	2257
Gene Symbol:	FGF12

FGF12

CUI:	C0013595
Disease:

Eczema

0.700

CausalMutation

CLINVAR

dbSNP:

rs886039903

Entrez Id:	2257
Gene Symbol:	FGF12

FGF12

CUI:	C0014544
Disease:

Epilepsy

0.020

GeneticVariation

BEFREE

All the 11 previously reported FGF12-associated epilepsy cases had a single neighboring p.(Arg114His) variant and presented similar phenotype.

31292943

2019