Source: GENOMICS_ENGLAND

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: 26873
Gene Symbol: OPLAH
OPLAH 		5-oxoprolinase, ATP-hydrolysing 0.792 0.308 7.0E-17
CUI: C0268525
Disease: 5-oxoprolinase deficiency
5-oxoprolinase deficiency 		disease 0.720 moderate 1.000 1 0 2012 2016