Source: ORPHANET

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: 4509
Gene Symbol: ATP8
ATP8
ATP synthase F0 subunit 8 0.666 0.615
Periodic paralysis with later-onset distal motor neuropathy
disease 0.300 None 1.000 1 0 2013 2013
Entrez Id: 4509
Gene Symbol: ATP8
ATP8
ATP synthase F0 subunit 8 0.666 0.615
CUI: C4757950
Disease: Isolated ATP synthase deficiency
Isolated ATP synthase deficiency
disease 0.300 None 1.000 1 0 2009 2009
Entrez Id: 4509
Gene Symbol: ATP8
ATP8
ATP synthase F0 subunit 8 0.666 0.615
CUI: C0022541
Disease: Kearns-Sayre syndrome
Kearns-Sayre syndrome
disease 0.300 None 0 0