KISS1R, KISS1 receptor, 84634

N. diseases: 195; N. variants: 14
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514699
rs397514699
Entrez Id: 84634
Gene Symbol: KISS1R
KISS1R
CUI: C3553841
Disease:
HYPOGONADOTROPIC HYPOGONADISM 8 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: rs397514699
rs397514699
Entrez Id: 84634
Gene Symbol: KISS1R
KISS1R
CUI: C3553841
Disease:
HYPOGONADOTROPIC HYPOGONADISM 8 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: rs121908499
rs121908499
Entrez Id: 84634
Gene Symbol: KISS1R
KISS1R
CUI: C3805879
Disease:
PRECOCIOUS PUBERTY, CENTRAL, 1 		0.800 GeneticVariation UNIPROT A GPR54-activating mutation in a patient with central precocious puberty. 18272894 2008
dbSNP: rs397514699
rs397514699
Entrez Id: 84634
Gene Symbol: KISS1R
KISS1R
CUI: C3553841
Disease:
HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA 		0.800 GeneticVariation UNIPROT Neuroendocrine phenotype analysis in five patients with isolated hypogonadotropic hypogonadism due to a L102P inactivating mutation of GPR54. 17164310 2007
dbSNP: rs397514699
rs397514699
Entrez Id: 84634
Gene Symbol: KISS1R
KISS1R
CUI: C3553841
Disease:
HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA 		0.800 GeneticVariation UNIPROT Two novel missense mutations in g protein-coupled receptor 54 in a patient with hypogonadotropic hypogonadism. 15598687 2005
dbSNP: rs397514699
rs397514699
Entrez Id: 84634
Gene Symbol: KISS1R
KISS1R
CUI: C3553841
Disease:
HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA 		0.800 GeneticVariation UNIPROT The GPR54 gene as a regulator of puberty. 14573733 2003
dbSNP: rs397514699
rs397514699
Entrez Id: 84634
Gene Symbol: KISS1R
KISS1R
CUI: C3553841
Disease:
HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA 		0.800 GeneticVariation UNIPROT Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54. 12944565 2003
dbSNP: rs121908499
rs121908499
Entrez Id: 84634
Gene Symbol: KISS1R
KISS1R
CUI: C3805879
Disease:
PRECOCIOUS PUBERTY, CENTRAL, 1 		C 0.800 CausalMutation CLINVAR
dbSNP: rs397514699
rs397514699
Entrez Id: 84634
Gene Symbol: KISS1R
KISS1R
CUI: C3553841
Disease:
HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA 		A 0.800 SusceptibilityMutation CLINVAR
dbSNP: rs104894703
rs104894703
Entrez Id: 84634
Gene Symbol: KISS1R
KISS1R
CUI: C3553841
Disease:
HYPOGONADOTROPIC HYPOGONADISM 8 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: rs144670595
rs144670595
Entrez Id: 84634
Gene Symbol: KISS1R
KISS1R
CUI: C3553841
Disease:
HYPOGONADOTROPIC HYPOGONADISM 8 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: rs28939719
rs28939719
Entrez Id: 84634
Gene Symbol: KISS1R
KISS1R
CUI: C3553841
Disease:
HYPOGONADOTROPIC HYPOGONADISM 8 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: rs73507527
rs73507527
Entrez Id: 84634
Gene Symbol: KISS1R
KISS1R
CUI: C3553841
Disease:
HYPOGONADOTROPIC HYPOGONADISM 8 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: rs745580229
rs745580229
Entrez Id: 84634
Gene Symbol: KISS1R
KISS1R
CUI: C3553841
Disease:
HYPOGONADOTROPIC HYPOGONADISM 8 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: rs104894703
rs104894703
Entrez Id: 84634
Gene Symbol: KISS1R
KISS1R
CUI: C3553841
Disease:
HYPOGONADOTROPIC HYPOGONADISM 8 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: rs144670595
rs144670595
Entrez Id: 84634
Gene Symbol: KISS1R
KISS1R
CUI: C3553841
Disease:
HYPOGONADOTROPIC HYPOGONADISM 8 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: rs28939719
rs28939719
Entrez Id: 84634
Gene Symbol: KISS1R
KISS1R
CUI: C3553841
Disease:
HYPOGONADOTROPIC HYPOGONADISM 8 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: rs73507527
rs73507527
Entrez Id: 84634
Gene Symbol: KISS1R
KISS1R
CUI: C3553841
Disease:
HYPOGONADOTROPIC HYPOGONADISM 8 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: rs745580229
rs745580229
Entrez Id: 84634
Gene Symbol: KISS1R
KISS1R
CUI: C3553841
Disease:
HYPOGONADOTROPIC HYPOGONADISM 8 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: rs104894703
rs104894703
Entrez Id: 84634
Gene Symbol: KISS1R
KISS1R
CUI: C3553841
Disease:
HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA 		0.700 GeneticVariation UNIPROT Neuroendocrine phenotype analysis in five patients with isolated hypogonadotropic hypogonadism due to a L102P inactivating mutation of GPR54. 17164310 2007
dbSNP: rs144670595
rs144670595
Entrez Id: 84634
Gene Symbol: KISS1R
KISS1R
CUI: C3553841
Disease:
HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA 		0.700 GeneticVariation UNIPROT Neuroendocrine phenotype analysis in five patients with isolated hypogonadotropic hypogonadism due to a L102P inactivating mutation of GPR54. 17164310 2007
dbSNP: rs28939719
rs28939719
Entrez Id: 84634
Gene Symbol: KISS1R
KISS1R
CUI: C3553841
Disease:
HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA 		0.700 GeneticVariation UNIPROT Neuroendocrine phenotype analysis in five patients with isolated hypogonadotropic hypogonadism due to a L102P inactivating mutation of GPR54. 17164310 2007
dbSNP: rs73507527
rs73507527
Entrez Id: 84634
Gene Symbol: KISS1R
KISS1R
CUI: C3553841
Disease:
HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA 		0.700 GeneticVariation UNIPROT Neuroendocrine phenotype analysis in five patients with isolated hypogonadotropic hypogonadism due to a L102P inactivating mutation of GPR54. 17164310 2007
dbSNP: rs745580229
rs745580229
Entrez Id: 84634
Gene Symbol: KISS1R
KISS1R
CUI: C3553841
Disease:
HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA 		0.700 GeneticVariation UNIPROT Neuroendocrine phenotype analysis in five patients with isolated hypogonadotropic hypogonadism due to a L102P inactivating mutation of GPR54. 17164310 2007
dbSNP: rs104894703
rs104894703
Entrez Id: 84634
Gene Symbol: KISS1R
KISS1R
CUI: C3553841
Disease:
HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA 		0.700 GeneticVariation UNIPROT Two novel missense mutations in g protein-coupled receptor 54 in a patient with hypogonadotropic hypogonadism. 15598687 2005