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: rs104893767
rs104893767
Entrez Id: 60675;105377156
Gene Symbol: PROK2;LOC105377156
PROK2;LOC105377156
CUI: C3552343
Disease:
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
dbSNP: rs104893767
rs104893767
Entrez Id: 60675;105377156
Gene Symbol: PROK2;LOC105377156
PROK2;LOC105377156
CUI: C3552343
Disease:
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
dbSNP: rs104893767
rs104893767
Entrez Id: 60675;105377156
Gene Symbol: PROK2;LOC105377156
PROK2;LOC105377156
CUI: C3552343
Disease:
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
dbSNP: rs104893767
rs104893767
Entrez Id: 60675;105377156
Gene Symbol: PROK2;LOC105377156
PROK2;LOC105377156
CUI: C3552343
Disease:
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
dbSNP: rs121434272
rs121434272
Entrez Id: 60675
Gene Symbol: PROK2
PROK2
CUI: C3552343
Disease:
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
dbSNP: rs121434272
rs121434272
Entrez Id: 60675
Gene Symbol: PROK2
PROK2
CUI: C3552343
Disease:
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
dbSNP: rs121434272
rs121434272
Entrez Id: 60675
Gene Symbol: PROK2
PROK2
CUI: C3552343
Disease:
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
dbSNP: rs121434272
rs121434272
Entrez Id: 60675
Gene Symbol: PROK2
PROK2
CUI: C3552343
Disease:
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
dbSNP: rs587777863
rs587777863
Entrez Id: 60675;105377156
Gene Symbol: PROK2;LOC105377156
PROK2;LOC105377156
CUI: C3552343
Disease:
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
dbSNP: rs587777863
rs587777863
Entrez Id: 60675;105377156
Gene Symbol: PROK2;LOC105377156
PROK2;LOC105377156
CUI: C3552343
Disease:
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
dbSNP: rs587777863
rs587777863
Entrez Id: 60675;105377156
Gene Symbol: PROK2;LOC105377156
PROK2;LOC105377156
CUI: C3552343
Disease:
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
dbSNP: rs587777863
rs587777863
Entrez Id: 60675;105377156
Gene Symbol: PROK2;LOC105377156
PROK2;LOC105377156
CUI: C3552343
Disease:
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
dbSNP: rs587777864
rs587777864
Entrez Id: 60675
Gene Symbol: PROK2
PROK2
CUI: C3552343
Disease:
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
dbSNP: rs587777864
rs587777864
Entrez Id: 60675
Gene Symbol: PROK2
PROK2
CUI: C3552343
Disease:
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
dbSNP: rs587777864
rs587777864
Entrez Id: 60675
Gene Symbol: PROK2
PROK2
CUI: C3552343
Disease:
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
dbSNP: rs587777864
rs587777864
Entrez Id: 60675
Gene Symbol: PROK2
PROK2
CUI: C3552343
Disease:
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
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: rs1388290870
rs1388290870
Entrez Id: 60675
Gene Symbol: PROK2
PROK2
CUI: C3552343
Disease:
HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA 		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
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: 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 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 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 The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients. 25077900 2014
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