PROK2, prokineticin 2, 60675

N. diseases: 151; N. variants: 11
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1388290870
rs1388290870
Entrez Id: 60675
Gene Symbol: PROK2
PROK2
CUI: C3552343
Disease:
HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA 		0.700 GeneticVariation UNIPROT Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. 23643382 2013
dbSNP: rs1427017264
rs1427017264
Entrez Id: 60675
Gene Symbol: PROK2
PROK2
CUI: C3552343
Disease:
HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA 		0.700 GeneticVariation UNIPROT Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. 23643382 2013
dbSNP: rs7635127
rs7635127
Entrez Id: 60675;105377156
Gene Symbol: PROK2;LOC105377156
PROK2;LOC105377156
CUI: C0202236
Disease:
Triglycerides measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs7635127
rs7635127
Entrez Id: 60675;105377156
Gene Symbol: PROK2;LOC105377156
PROK2;LOC105377156
CUI: C1445957
Disease:
Serum total cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs1388290870
rs1388290870
Entrez Id: 60675
Gene Symbol: PROK2
PROK2
CUI: C3552343
Disease:
HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA 		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
dbSNP: rs1427017264
rs1427017264
Entrez Id: 60675
Gene Symbol: PROK2
PROK2
CUI: C3552343
Disease:
HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA 		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
dbSNP: rs1388290870
rs1388290870
Entrez Id: 60675
Gene Symbol: PROK2
PROK2
CUI: C3552343
Disease:
HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA 		0.700 GeneticVariation UNIPROT Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2. 17054399 2006
dbSNP: rs1427017264
rs1427017264
Entrez Id: 60675
Gene Symbol: PROK2
PROK2
CUI: C3552343
Disease:
HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA 		0.700 GeneticVariation UNIPROT Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2. 17054399 2006
dbSNP: rs554675432
rs554675432
Entrez Id: 60675
Gene Symbol: PROK2
PROK2
CUI: C3552343
Disease:
HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA 		A 0.700 CausalMutation CLINVAR
dbSNP: rs777588279
rs777588279
Entrez Id: 60675
Gene Symbol: PROK2
PROK2
CUI: C0020619
Disease:
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
dbSNP: rs587777863
rs587777863
Entrez Id: 60675;105377156
Gene Symbol: PROK2;LOC105377156
PROK2;LOC105377156
CUI: C0162809
Disease:
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