Source: ORPHANET

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: C4225332
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 10
LEUKODYSTROPHY, HYPOMYELINATING, 10 		disease 0.700 None 1.000 1 0 2015 2017
Entrez Id: 29920
Gene Symbol: PYCR2
PYCR2 		pyrroline-5-carboxylate reductase 2 0.682 0.462 2.1E-06
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		disease 0.300 None 1.000 1 0 2017 2017