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: 212
Gene Symbol: ALAS2
ALAS2 		5'-aminolevulinate synthase 2 0.606 0.577 1.00
CUI: C4551511
Disease: X-linked sideroblastic anemia
X-linked sideroblastic anemia 		disease 0.800 strong 1.000 3 0 1992 2019
Entrez Id: 212
Gene Symbol: ALAS2
ALAS2 		5'-aminolevulinate synthase 2 0.606 0.577 1.00
CUI: C2677889
Disease: Protoporphyria, Erythropoietic, X-Linked Dominant
Protoporphyria, Erythropoietic, X-Linked Dominant 		disease 0.600 strong 1.000 3 0 1999 2018