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: 4508
Gene Symbol: ATP6
ATP6 		ATP synthase F0 subunit 6 0.541 0.731
CUI: C4757950
Disease: Isolated ATP synthase deficiency
Isolated ATP synthase deficiency 		disease 0.300 None 1.000 1 0 2017 2017
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: 498
Gene Symbol: ATP5F1A
ATP5F1A 		ATP synthase F1 subunit alpha 0.604 0.731 1.00
CUI: C4757950
Disease: Isolated ATP synthase deficiency
Isolated ATP synthase deficiency 		disease 0.300 None 1.000 1 0 2013 2013
Entrez Id: 513
Gene Symbol: ATP5F1D
ATP5F1D 		ATP synthase F1 subunit delta 0.674 0.500 7.4E-02
CUI: C4757950
Disease: Isolated ATP synthase deficiency
Isolated ATP synthase deficiency 		disease 0.300 None 1.000 1 0 2018 2018
Entrez Id: 514
Gene Symbol: ATP5F1E
ATP5F1E 		ATP synthase F1 subunit epsilon 0.686 0.500 8.9E-03
CUI: C4757950
Disease: Isolated ATP synthase deficiency
Isolated ATP synthase deficiency 		disease 0.300 None 1.000 1 0 2010 2010
Entrez Id: 91647
Gene Symbol: ATPAF2
ATPAF2 		ATP synthase mitochondrial F1 complex assembly factor 2 0.729 0.423 2.2E-09
CUI: C4757950
Disease: Isolated ATP synthase deficiency
Isolated ATP synthase deficiency 		disease 0.300 None 1.000 1 0 2004 2004
Entrez Id: 64756
Gene Symbol: ATPAF1
ATPAF1 		ATP synthase mitochondrial F1 complex assembly factor 1 0.792 0.269 1.3E-02
CUI: C4757950
Disease: Isolated ATP synthase deficiency
Isolated ATP synthase deficiency 		disease 0.300 None 0 0