PROK2, prokineticin 2, 60675

N. diseases: 151; N. variants: 11
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0338503
Disease: Septo-Optic Dysplasia
Septo-Optic Dysplasia
0.020 GeneticVariation disease BEFREE Variations in PROKR2, but not PROK2, are associated with hypopituitarism and septo-optic dysplasia. 23386640 2013
CUI: C0338503
Disease: Septo-Optic Dysplasia
Septo-Optic Dysplasia
0.020 GeneticVariation disease BEFREE 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