PROKR2, prokineticin receptor 2, 128674

N. diseases: 164; N. variants: 25
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
0.420 GeneticVariation disease BEFREE We detected 5 PROKR2 variants in 11 patients with SOD/CH: novel p.G371R and previously reported p.A51T, p.R85L, p.L173R, and p.R268C-the latter 3 being known functionally deleterious variants. 23386640 2013
CUI: C0338503
Disease: Septo-Optic Dysplasia
Septo-Optic Dysplasia
0.420 Biomarker disease BEFREE Mutations in FGFR1/FGF8/PROKR2 contributed to 7.8% of our patients with CPHD/SOD. 22319038 2012
CUI: C0338503
Disease: Septo-Optic Dysplasia
Septo-Optic Dysplasia
0.420 GermlineCausalMutation disease ORPHANET Mutations in FGFR1/FGF8/PROKR2 contributed to 7.8% of our patients with CPHD/SOD. 22319038 2012
CUI: C0338503
Disease: Septo-Optic Dysplasia
Septo-Optic Dysplasia
0.420 Biomarker disease HPO