KISS1R, KISS1 receptor, 84634

N. diseases: 195; N. variants: 14
Disease: HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3553841
Disease: HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA 		0.900 GeneticVariation disease UNIPROT The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients. 25077900 2014
CUI: C3553841
Disease: HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA 		0.900 Biomarker disease GENOMICS_ENGLAND Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. 23643382 2013
CUI: C3553841
Disease: HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA 		0.900 GeneticVariation disease UNIPROT Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. 23643382 2013
CUI: C3553841
Disease: HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA 		0.900 Biomarker disease MGD Kisspeptin signaling is indispensable for neurokinin B, but not glutamate, stimulation of gonadotropin secretion in mice. 22067321 2012
CUI: C3553841
Disease: HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA 		0.900 Biomarker disease MGD Kiss1-/- mice exhibit more variable hypogonadism than Gpr54-/- mice. 17595229 2007
CUI: C3553841
Disease: HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA 		0.900 GeneticVariation disease UNIPROT Neuroendocrine phenotype analysis in five patients with isolated hypogonadotropic hypogonadism due to a L102P inactivating mutation of GPR54. 17164310 2007
CUI: C3553841
Disease: HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA 		0.900 Biomarker disease MGD Kisspeptin directly stimulates gonadotropin-releasing hormone release via G protein-coupled receptor 54. 15665093 2005
CUI: C3553841
Disease: HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA 		0.900 GeneticVariation disease UNIPROT Two novel missense mutations in g protein-coupled receptor 54 in a patient with hypogonadotropic hypogonadism. 15598687 2005
CUI: C3553841
Disease: HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA 		0.900 Biomarker disease MGD The GPR54 gene as a regulator of puberty. 14573733 2003
CUI: C3553841
Disease: HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA 		0.900 GeneticVariation disease UNIPROT The GPR54 gene as a regulator of puberty. 14573733 2003
CUI: C3553841
Disease: HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA 		0.900 GeneticVariation disease UNIPROT Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54. 12944565 2003
CUI: C3553841
Disease: HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA 		0.900 Biomarker disease MGD The KiSS-1 receptor GPR54 is essential for the development of the murine reproductive system. 14652023 2003
CUI: C3553841
Disease: HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA 		0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C3553841
Disease: HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA 		0.900 Biomarker disease CTD_human
CUI: C3553841
Disease: HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA 		0.900 SusceptibilityMutation disease CLINVAR