DisGeNET - a database of gene-disease associations

FGFR1, fibroblast growth factor receptor 1, 2260

N. diseases: 816; N. variants: 119

Disease: Idiopathic hypogonadotropic hypogonadism ×

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:

rs515726224

Entrez Id:	2260
Gene Symbol:	FGFR1

FGFR1

CUI:	C0342384
Disease:

Idiopathic hypogonadotropic hypogonadism

0.700

CausalMutation

CLINVAR

Congenital hypogonadotropic hypogonadism during childhood: presentation and genetic analyses in 46 boys.

24204987

2013

dbSNP:

rs121909628

Entrez Id:	2260
Gene Symbol:	FGFR1

FGFR1

CUI:	C0342384
Disease:

Idiopathic hypogonadotropic hypogonadism

0.700

GeneticVariation

CLINVAR

dbSNP:

rs121909641

Entrez Id:	2260
Gene Symbol:	FGFR1

FGFR1

CUI:	C0342384
Disease:

Idiopathic hypogonadotropic hypogonadism

0.700

GeneticVariation

CLINVAR

dbSNP:

rs727505369

Entrez Id:	2260
Gene Symbol:	FGFR1

FGFR1

CUI:	C0342384
Disease:

Idiopathic hypogonadotropic hypogonadism

0.700

GeneticVariation

CLINVAR

dbSNP:

rs727505370

Entrez Id:	2260
Gene Symbol:	FGFR1

FGFR1

CUI:	C0342384
Disease:

Idiopathic hypogonadotropic hypogonadism

0.700

GeneticVariation

CLINVAR

dbSNP:

rs727505371

Entrez Id:	2260
Gene Symbol:	FGFR1

FGFR1

CUI:	C0342384
Disease:

Idiopathic hypogonadotropic hypogonadism

0.700

GeneticVariation

CLINVAR

dbSNP:

rs727505373

Entrez Id:	2260
Gene Symbol:	FGFR1

FGFR1

CUI:	C0342384
Disease:

Idiopathic hypogonadotropic hypogonadism

0.700

GeneticVariation

CLINVAR

dbSNP:

rs727505376

Entrez Id:	2260
Gene Symbol:	FGFR1

FGFR1

CUI:	C0342384
Disease:

Idiopathic hypogonadotropic hypogonadism

0.700

GeneticVariation

CLINVAR

dbSNP:

rs727505377

Entrez Id:	2260
Gene Symbol:	FGFR1

FGFR1

CUI:	C0342384
Disease:

Idiopathic hypogonadotropic hypogonadism

0.700

GeneticVariation

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:

rs121909640

Entrez Id:	2260
Gene Symbol:	FGFR1

FGFR1

CUI:	C0342384
Disease:

Idiopathic hypogonadotropic hypogonadism

0.010

GeneticVariation

BEFREE

Interestingly, the G48S mutation was identified in a normosmic IHH patient.

16882753

2006

dbSNP:

rs781328162

Entrez Id:	2260
Gene Symbol:	FGFR1

FGFR1

CUI:	C0342384
Disease:

Idiopathic hypogonadotropic hypogonadism

0.010

GeneticVariation

BEFREE

Eight novel heterozygous FGFR1 mutations (G48S, L245P, R250W, A343V, P366L, K618fsX654, P722S, and V795I) were identified in nine of 80 patients with IHH.

16882753

2006