rs587777863
PROK2;LOC105377156
Kallmann Syndrome
0.010
GeneticVariation
BEFREE
Among them, six had KS, four nIHH, and one KS proband carried both a PROKR2 (p.V115M) and PROK2 (p.A24P ) mutation.
18559922
2008
rs777588279
×
Entrez Id:
60675
Gene Symbol:
PROK2
PROK2
Hypogonadism
0.010
GeneticVariation
BEFREE
We identified two heterozygous PROKR2 mutations (p.Leu173Arg and p.Arg85His ) previously reported in isolated hypogonadotroph hypogonadism and a novel PROKR2 variant (p.Ala51Thr) that, in contrast with both other mutations, did not impair receptor signaling activity.
22466334
2012
rs104893767
PROK2;LOC105377156
HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA
G
0.800
CausalMutation
CLINVAR
rs121434272
×
Entrez Id:
60675
Gene Symbol:
PROK2
PROK2
HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA
A
0.800
CausalMutation
CLINVAR
rs587777863
PROK2;LOC105377156
HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA
G
0.800
CausalMutation
CLINVAR
rs587777864
×
Entrez Id:
60675
Gene Symbol:
PROK2
PROK2
HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA
T
0.800
CausalMutation
CLINVAR
rs554675432
×
Entrez Id:
60675
Gene Symbol:
PROK2
PROK2
HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA
A
0.700
CausalMutation
CLINVAR
rs13070279
×
Entrez Id:
60675
Gene Symbol:
PROK2
PROK2
Monocyte count procedure
A
0.700
GeneticVariation
GWASCAT
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
27863252
2016
rs13070279
×
Entrez Id:
60675
Gene Symbol:
PROK2
PROK2
Monocyte count result
A
0.700
GeneticVariation
GWASCAT
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
27863252
2016
rs7644362
×
Entrez Id:
60675
Gene Symbol:
PROK2
PROK2
Blood Protein Measurement
A
0.700
GeneticVariation
GWASCAT
Co-regulatory networks of human serum proteins link genetics to disease.
30072576
2018
rs7635127
PROK2;LOC105377156
Triglycerides measurement
0.700
GeneticVariation
GWASDB
Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
23063622
2012
rs7635127
PROK2;LOC105377156
Serum total cholesterol measurement
0.700
GeneticVariation
GWASDB
Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
23063622
2012
rs104893767
PROK2;LOC105377156
HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA
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
rs104893767
PROK2;LOC105377156
HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA
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
rs104893767
PROK2;LOC105377156
HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA
0.800
GeneticVariation
UNIPROT
Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.
23643382
2013
rs104893767
PROK2;LOC105377156
HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA
0.800
GeneticVariation
UNIPROT
Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2.
17054399
2006
rs121434272
×
Entrez Id:
60675
Gene Symbol:
PROK2
PROK2
HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA
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
rs121434272
×
Entrez Id:
60675
Gene Symbol:
PROK2
PROK2
HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA
0.800
GeneticVariation
UNIPROT
Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.
23643382
2013
rs121434272
×
Entrez Id:
60675
Gene Symbol:
PROK2
PROK2
HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA
0.800
GeneticVariation
UNIPROT
Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2.
17054399
2006
rs121434272
×
Entrez Id:
60675
Gene Symbol:
PROK2
PROK2
HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA
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
rs587777863
PROK2;LOC105377156
HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA
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
rs587777863
PROK2;LOC105377156
HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA
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
rs587777863
PROK2;LOC105377156
HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA
0.800
GeneticVariation
UNIPROT
Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.
23643382
2013
rs587777863
PROK2;LOC105377156
HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA
0.800
GeneticVariation
UNIPROT
Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2.
17054399
2006
rs587777864
×
Entrez Id:
60675
Gene Symbol:
PROK2
PROK2
HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA
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