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 0.925 0.120 MT 8851 missense variant T/C snv 0.700 1.000 4 1995 2013
Striatonigral Degeneration, Infantile, Mitochondrial
CUI: C1839022
Disease: Striatonigral Degeneration, Infantile, Mitochondrial
2 0.925 0.120 MT 8851 missense variant T/C snv 0.700 0