DisGeNET - a database of gene-disease associations

FGFR1, fibroblast growth factor receptor 1, 2260

N. diseases: 816; N. variants: 119

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:

rs1057519897

Entrez Id:	2260
Gene Symbol:	FGFR1

FGFR1

CUI:	C0017636
Disease:

Glioblastoma

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs1057519897

Entrez Id:	2260
Gene Symbol:	FGFR1

FGFR1

CUI:	C0004114
Disease:

Astrocytoma

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs1057519897

Entrez Id:	2260
Gene Symbol:	FGFR1

FGFR1

CUI:	C2239176
Disease:

Liver carcinoma

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs1057519897

Entrez Id:	2260
Gene Symbol:	FGFR1

FGFR1

CUI:	C1855472
Disease:

Acute lymphoblastic leukemia with lymphomatous features

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs1057519897

Entrez Id:	2260
Gene Symbol:	FGFR1

FGFR1

CUI:	C0279680
Disease:

Transitional cell carcinoma of bladder

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs1057519897

Entrez Id:	2260
Gene Symbol:	FGFR1

FGFR1

CUI:	C0025149
Disease:

Medulloblastoma

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs1057519898

Entrez Id:	2260
Gene Symbol:	FGFR1

FGFR1

CUI:	C0278701
Disease:

Gastric Adenocarcinoma

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs1057519898

Entrez Id:	2260
Gene Symbol:	FGFR1

FGFR1

CUI:	C0004114
Disease:

Astrocytoma

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs1057519898

Entrez Id:	2260
Gene Symbol:	FGFR1

FGFR1

CUI:	C2749484
Disease:

NEUROBLASTOMA, SUSCEPTIBILITY TO

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs1057519898

Entrez Id:	2260
Gene Symbol:	FGFR1

FGFR1

CUI:	C0677865
Disease:

Brain Stem Glioma

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs1057519898

Entrez Id:	2260
Gene Symbol:	FGFR1

FGFR1

CUI:	C0025149
Disease:

Medulloblastoma

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs1057519899

Entrez Id:	2260
Gene Symbol:	FGFR1

FGFR1

CUI:	C2749484
Disease:

NEUROBLASTOMA, SUSCEPTIBILITY TO

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs1057519899

Entrez Id:	2260
Gene Symbol:	FGFR1

FGFR1

CUI:	C0025149
Disease:

Medulloblastoma

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs1057519899

Entrez Id:	2260
Gene Symbol:	FGFR1

FGFR1

CUI:	C0677865
Disease:

Brain Stem Glioma

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs1057519899

Entrez Id:	2260
Gene Symbol:	FGFR1

FGFR1

CUI:	C0004114
Disease:

Astrocytoma

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs1057519899

Entrez Id:	2260
Gene Symbol:	FGFR1

FGFR1

CUI:	C0278701
Disease:

Gastric Adenocarcinoma

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs1060499663

Entrez Id:	2260
Gene Symbol:	FGFR1

FGFR1

CUI:	C1563720
Disease:

Kallmann Syndrome 2 (disorder)

0.700

CausalMutation

CLINVAR

dbSNP:

rs1064793123

Entrez Id:	2260
Gene Symbol:	FGFR1

FGFR1

CUI:	C0342384
Disease:

Idiopathic hypogonadotropic hypogonadism

0.010

GeneticVariation

BEFREE

Six novel mutations (p.154_158del, p.E496Rfs*12, p.W190X, p.S134D, p.W10X, and c.1552 + 3insT) in FGFR1, two novel mutations (p.E176K and p.R184C) in FGF8, three novel mutations (p.48_52del, p.P120L, and p.K191R) in FGF17, and five reported mutations (p.W289X, p.G237S, p.V102I, p.R250Q, and p.T340M) in FGFR1 were identified in 18 IHH patients.

31748124

2020

dbSNP:

rs1085307879

Entrez Id:	2260
Gene Symbol:	FGFR1

FGFR1

CUI:	C1563720
Disease:

Kallmann Syndrome 2 (disorder)

0.700

GeneticVariation

UNIPROT

dbSNP:

rs1126485

Entrez Id:	2260
Gene Symbol:	FGFR1

FGFR1

CUI:	C0162809
Disease:

Kallmann Syndrome

0.010

GeneticVariation

BEFREE

A rare variant of necdin (p.V318A) was described in a family with Kallmann syndrome associated with a FGFR1 mutation.

21543378

2011

dbSNP:

rs1131691929

Entrez Id:	2260
Gene Symbol:	FGFR1

FGFR1

CUI:	C1563720
Disease:

Kallmann Syndrome 2 (disorder)

0.700

GeneticVariation

UNIPROT

dbSNP:

rs121909627

Entrez Id:	2260
Gene Symbol:	FGFR1

FGFR1

CUI:	C0220658
Disease:

Pfeiffer Syndrome

0.850

GeneticVariation

UNIPROT

A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome.

7874169

1994

dbSNP:

rs121909627

Entrez Id:	2260
Gene Symbol:	FGFR1

FGFR1

CUI:	C0220658
Disease:

Pfeiffer Syndrome

0.850

CausalMutation

CLINVAR

Molecular analysis of her fibroblast growth factor receptor 1 gene (FGFR1) identified a heterozygous P252R missense mutation, previously only reported with FGFR1-Pfeiffer syndrome like manifestations.

10861678

2000

dbSNP:

rs121909627

Entrez Id:	2260
Gene Symbol:	FGFR1

FGFR1

CUI:	C0220658
Disease:

Pfeiffer Syndrome

0.850

CausalMutation

CLINVAR

Variable expressivity of pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mutation.

25251565

2014

dbSNP:

rs121909627

Entrez Id:	2260
Gene Symbol:	FGFR1

FGFR1

CUI:	C0220658
Disease:

Pfeiffer Syndrome

0.850

CausalMutation

CLINVAR

We report four new affected families showing an FGFR1 P252R mutation and emphasize the characteristic malformations of the feet in this form of Pfeiffer syndrome.

14564217

2003