DisGeNET - a database of gene-disease associations

Kallmann Syndrome 2 (disorder), C1563720

Gene: FGFR1 ×

Source: UNIPROT ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121909628

FGFR1

0.800

GeneticVariation

UNIPROT

Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: evidence for the involvement of an alternatively spliced isoform.

26277103

2015

dbSNP:

rs121909635

FGFR1

0.800

GeneticVariation

UNIPROT

Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: evidence for the involvement of an alternatively spliced isoform.

26277103

2015

dbSNP:

rs121909637

FGFR1

0.800

GeneticVariation

UNIPROT

Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: evidence for the involvement of an alternatively spliced isoform.

26277103

2015

dbSNP:

rs121909640

FGFR1

0.800

GeneticVariation

UNIPROT

Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: evidence for the involvement of an alternatively spliced isoform.

26277103

2015

dbSNP:

rs121909641

FGFR1

0.800

GeneticVariation

UNIPROT

Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: evidence for the involvement of an alternatively spliced isoform.

26277103

2015

dbSNP:

rs121909644

FGFR1

0.800

GeneticVariation

UNIPROT

Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: evidence for the involvement of an alternatively spliced isoform.

26277103

2015

dbSNP:

rs121909645

FGFR1

0.800

GeneticVariation

UNIPROT

Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: evidence for the involvement of an alternatively spliced isoform.

26277103

2015

dbSNP:

rs1554570706

FGFR1

0.800

GeneticVariation

UNIPROT

Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: evidence for the involvement of an alternatively spliced isoform.

26277103

2015

dbSNP:

rs121909628

FGFR1

0.800

GeneticVariation

UNIPROT

The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.

25077900

2014

dbSNP:

rs121909635

FGFR1

0.800

GeneticVariation

UNIPROT

The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.

25077900

2014

dbSNP:

rs121909637

FGFR1

0.800

GeneticVariation

UNIPROT

The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.

25077900

2014

dbSNP:

rs121909640

FGFR1

0.800

GeneticVariation

UNIPROT

The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.

25077900

2014

dbSNP:

rs121909641

FGFR1

0.800

GeneticVariation

UNIPROT

The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.

25077900

2014

dbSNP:

rs121909644

FGFR1

0.800

GeneticVariation

UNIPROT

The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.

25077900

2014

dbSNP:

rs121909645

FGFR1

0.800

GeneticVariation

UNIPROT

The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.

25077900

2014

dbSNP:

rs1554570706

FGFR1

0.800

GeneticVariation

UNIPROT

The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.

25077900

2014

dbSNP:

rs121909628

FGFR1

0.800

GeneticVariation

UNIPROT

Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.

23643382

2013

dbSNP:

rs121909635

FGFR1

0.800

GeneticVariation

UNIPROT

Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.

23643382

2013

dbSNP:

rs121909637

FGFR1

0.800

GeneticVariation

UNIPROT

Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.

23643382

2013

dbSNP:

rs121909640

FGFR1

0.800

GeneticVariation

UNIPROT

Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.

23643382

2013

dbSNP:

rs121909641

FGFR1

0.800

GeneticVariation

UNIPROT

Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.

23643382

2013

dbSNP:

rs121909644

FGFR1

0.800

GeneticVariation

UNIPROT

Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.

23643382

2013

dbSNP:

rs121909645

FGFR1

0.800

GeneticVariation

UNIPROT

Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.

23643382

2013

dbSNP:

rs1554570706

FGFR1

0.800

GeneticVariation

UNIPROT

Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.

23643382

2013

dbSNP:

rs121909628

FGFR1

0.800

GeneticVariation

UNIPROT

SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome.

22927827

2012