Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 128674
Gene Symbol: PROKR2
PROKR2
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.700 GermlineCausalMutation ORPHANET A total of 103 patients with either CPHD (n = 35) or SOD (n = 68) were investigated for mutations in genes implicated in the etiology of KS (FGFR1, FGF8, PROKR2, PROK2, and KAL1). 22319038

2012

Entrez Id: 128674
Gene Symbol: PROKR2
PROKR2
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.700 GermlineCausalMutation ORPHANET In PROKR2, four distinct mutations (p.R80C, p.Y140X, p.L173R, and p.R268C) were identified in five patients with Kallmann syndrome and in one patient with normosmic HH. 18682503

2008