PROK2, prokineticin 2, 60675

N. diseases: 151; N. variants: 11
Disease: Klinefelter Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		0.040 Biomarker disease BEFREE Indeed, the evidence from several naturally inactivating mutations in the PROK2 and PROKR2 genes in patients with Kallmann syndrome and normosmic hypogonadotropic hypogonadism also indicate the essential role of PROK2 in olfactory bulb morphogenesis and GnRH secretion in humans. 20502053 2010
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		0.040 GeneticVariation disease BEFREE Prok2 and prokr2 gene knockout mice both have agenesis or hypoplasia of the olfactory bulbs, associated with hypogonadotropic hypogonadism linked to abnormal GnRH neuron migration. 20389090 2010
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		0.040 GeneticVariation disease BEFREE To investigate PROK2 and PROKR2 mutations in patients with hypogonadotropic hypogonadism (HH) associated or not with olfactory abnormalities. 18682503 2008
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		0.040 Biomarker disease BEFREE In addition, Prok2(-/-) mice with olfactory bulb defects exhibited disrupted GnRH neuron migration, resulting in a dramatic decrease in GnRH neuron population in the hypothalamus as well as hypogonadotropic hypogonadism. 17959774 2007