KISS1R, KISS1 receptor, 84634

N. diseases: 195; N. variants: 14
Disease: Idiopathic hypogonadotropic hypogonadism ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894702
rs104894702
Entrez Id: 84634
Gene Symbol: KISS1R
KISS1R
CUI: C0342384
Disease:
Idiopathic hypogonadotropic hypogonadism 		0.020 GeneticVariation BEFREE A male patient harboring the mutations R331X and X399R demonstrated (1) increased sensitivity to exogenous pulsatile GnRH compared to a cohort of I</span>HH patients undergoing similar therapy and (2) steady increases in testicular volume, spermatogenesis, and fertility while on long-term GnRH therapy. 16757106 2006
dbSNP: rs104894702
rs104894702
Entrez Id: 84634
Gene Symbol: KISS1R
KISS1R
CUI: C0342384
Disease:
Idiopathic hypogonadotropic hypogonadism 		0.020 GeneticVariation BEFREE The patient carrying the compound heterozygous mutations (R331X and X399R) had attenuated secretion of endogenous gonadotropin-releasing hormone and a left-shifted dose-response curve for gonadotropin-releasing hormone as compared with six patients who had idiopathic hypogonadotropic hypogonadism without GPR54 mutations. 14573733 2003