Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 60675
Gene Symbol: PROK2
PROK2
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 GermlineCausalMutation ORPHANET In addition, we show that PROKR2 haploinsufficiency is not sufficient to cause Kallmann syndrome or normosmic HH, whereas homozygous loss-of-function mutations either in PROKR2 or PROK2 are sufficient to cause disease phenotype, in accordance with the Prokr2 and Prok2 knockout mouse models. 18682503

2008