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: 54995
Gene Symbol: OXSM
OXSM 		3-oxoacyl-ACP synthase, mitochondrial 0.861 0.115 2.5E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease 0.100 None 1.000 6 1 2001 2017