rs144994507, PROKR2

N. diseases: 1
Disease: Hypogonadism ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hypogonadism
CUI: C0020619
Disease: Hypogonadism
0.010 GeneticVariation BEFREE We identified two heterozygous PROKR2 mutations (p.Leu173Arg and p.Arg85His) previously reported in isolated hypogonadotroph hypogonadism and a novel PROKR2 variant (p.Ala51Thr) that, in contrast with both other mutations, did not impair receptor signaling activity. 22466334 2012