Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 29920
Gene Symbol: PYCR2
PYCR2 		pyrroline-5-carboxylate reductase 2 0.682 0.462 2.1E-06
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		phenotype 0.100 None 1.000 1 1 2017 2017