Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
114 0.882 0.120 MT 14487 missense variant T/C snv 0.800 1.000 4 2003 2005
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
8 0.882 0.120 MT 14487 missense variant T/C snv 0.700 0
STRIATAL NECROSIS, BILATERAL, WITH DYSTONIA
CUI: C1838954
Disease: STRIATAL NECROSIS, BILATERAL, WITH DYSTONIA
1 0.882 0.120 MT 14487 missense variant T/C snv 0.700 0