KISS1R, KISS1 receptor, 84634

N. diseases: 195; N. variants: 14
Disease: Kallmann Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.520 Biomarker disease BEFREE Even though it is a genotypically and phenotypically heterogeneous clinical disease, there are some key genes related to KS (KAL1, FGFR1 (KAL2), GNRHR, KISSR1 (GPR54), GNRH1, NELF and PROK2). 24776628 2014
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.520 GermlineCausalMutation disease ORPHANET Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. 23643382 2013
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.520 Biomarker disease MGD Kisspeptin signaling is indispensable for neurokinin B, but not glutamate, stimulation of gonadotropin secretion in mice. 22067321 2012
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.520 Biomarker disease MGD Kiss1-/- mice exhibit more variable hypogonadism than Gpr54-/- mice. 17595229 2007
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.520 GeneticVariation disease BEFREE Mutations in KAL1 and FGFR1 cause Kallmann syndrome (KS), whereas mutations in the GNRHR and GPR54 genes cause idiopathic hypogonadotropic hypogonadism with normal olfaction (nIHH). 16606836 2006
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.520 Biomarker disease MGD Kisspeptin directly stimulates gonadotropin-releasing hormone release via G protein-coupled receptor 54. 15665093 2005
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.520 Biomarker disease MGD The GPR54 gene as a regulator of puberty. 14573733 2003
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.520 Biomarker disease MGD The KiSS-1 receptor GPR54 is essential for the development of the murine reproductive system. 14652023 2003