DisGeNET - a database of gene-disease associations

HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, C3552343

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs104893767

PROK2 ; LOC105377156

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:

rs121434272

PROK2

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:

rs587777863

PROK2 ; LOC105377156

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:

rs587777864

PROK2

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:

rs104893767

PROK2 ; LOC105377156

0.800

GeneticVariation

UNIPROT

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

23643382

2013

dbSNP:

rs121434272

PROK2

0.800

GeneticVariation

UNIPROT

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

23643382

2013

dbSNP:

rs587777863

PROK2 ; LOC105377156

0.800

GeneticVariation

UNIPROT

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

23643382

2013

dbSNP:

rs587777864

PROK2

0.800

GeneticVariation

UNIPROT

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

23643382

2013

dbSNP:

rs104893767

PROK2 ; LOC105377156

0.800

GeneticVariation

UNIPROT

Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum.

18559922

2008

dbSNP:

rs121434272

PROK2

0.800

GeneticVariation

UNIPROT

Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum.

18559922

2008

dbSNP:

rs587777863

PROK2 ; LOC105377156

0.800

GeneticVariation

UNIPROT

Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum.

18559922

2008

dbSNP:

rs587777864

PROK2

0.800

GeneticVariation

UNIPROT

Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum.

18559922

2008

dbSNP:

rs104893767

PROK2 ; LOC105377156

0.800

GeneticVariation

UNIPROT

Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2.

17054399

2006

dbSNP:

rs121434272

PROK2

0.800

GeneticVariation

UNIPROT

Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2.

17054399

2006

dbSNP:

rs587777863

PROK2 ; LOC105377156

0.800

GeneticVariation

UNIPROT

Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2.

17054399

2006

dbSNP:

rs587777864

PROK2

0.800

GeneticVariation

UNIPROT

Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2.

17054399

2006

dbSNP:

rs104893767

PROK2 ; LOC105377156

0.800

CausalMutation

CLINVAR

dbSNP:

rs121434272

PROK2

0.800

CausalMutation

CLINVAR

dbSNP:

rs587777863

PROK2 ; LOC105377156

0.800

CausalMutation

CLINVAR

dbSNP:

rs587777864

PROK2

0.800

CausalMutation

CLINVAR

dbSNP:

rs1388290870

PROK2

0.700

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:

rs1427017264

PROK2

0.700

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:

rs1388290870

PROK2

0.700

GeneticVariation

UNIPROT

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

23643382

2013

dbSNP:

rs1427017264

PROK2

0.700

GeneticVariation

UNIPROT

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

23643382

2013

dbSNP:

rs1388290870

PROK2

0.700

GeneticVariation

UNIPROT

Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum.

18559922

2008