rs144670595, KISS1R

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA
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
HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA
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
HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA
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
HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA
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
HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA
CUI: C3553841
Disease: HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA
0.700 GeneticVariation UNIPROT The GPR54 gene as a regulator of puberty. 14573733 2003
HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA
CUI: C3553841
Disease: HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA
0.700 GeneticVariation UNIPROT Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54. 12944565 2003
Bilateral Cryptorchidism
CUI: C0431663
Disease: Bilateral Cryptorchidism
0.010 GeneticVariation BEFREE A missense homozygous variant (c.890G>T p.R297L) in KISS1R was identified in a child who presented with microphallus and bilateral cryptorchidism. 29452377 2018