Source: HPO

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: 10002
Gene Symbol: NR2E3
NR2E3
nuclear receptor subfamily 2 group E member 3 0.603 0.500
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 4508
Gene Symbol: ATP6
ATP6
ATP synthase F0 subunit 6 0.541 0.731
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 4512
Gene Symbol: COX1
COX1
cytochrome c oxidase subunit I 0.441 0.885
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 4513
Gene Symbol: COX2
COX2
cytochrome c oxidase subunit II 0.352 0.962
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 4514
Gene Symbol: COX3
COX3
cytochrome c oxidase III 0.546 0.808
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 4519
Gene Symbol: CYTB
CYTB
cytochrome b 0.529 0.808
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 4535
Gene Symbol: ND1
ND1
NADH dehydrogenase, subunit 1 (complex I) 0.522 0.769
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.110 None 1.000 0 0 2013 2013
Entrez Id: 4536
Gene Symbol: ND2
ND2
MTND2 0.601 0.615
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 4537
Gene Symbol: ND3
ND3
NADH dehydrogenase, subunit 3 (complex I) 0.604 0.654
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 4538
Gene Symbol: ND4
ND4
NADH dehydrogenase, subunit 4 (complex I) 0.546 0.769
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.110 None 1.000 0 0 2012 2012
Entrez Id: 4539
Gene Symbol: ND4L
ND4L
NADH dehydrogenase, subunit 4L (complex I) 0.805 0.308
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 4540
Gene Symbol: ND5
ND5
NADH dehydrogenase, subunit 5 (complex I) 0.531 0.769
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.110 None 1.000 0 0 2008 2008
Entrez Id: 4541
Gene Symbol: ND6
ND6
NADH dehydrogenase, subunit 6 (complex I) 0.544 0.808
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 4549
Gene Symbol: RNR1
RNR1
s-rRNA 0.626 0.769
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 4558
Gene Symbol: TRNF
TRNF
tRNA 0.582 0.731
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 4564
Gene Symbol: TRNH
TRNH
tRNA 0.597 0.731
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 4566
Gene Symbol: TRNK
TRNK
tRNA 0.608 0.577
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 4567
Gene Symbol: TRNL1
TRNL1
tRNA 0.534 0.731
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 4570
Gene Symbol: TRNN
TRNN
tRNA 0.682 0.577
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 4571
Gene Symbol: TRNP
TRNP
tRNA 0.792 0.423
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 4572
Gene Symbol: TRNQ
TRNQ
tRNA 0.590 0.731
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 4574
Gene Symbol: TRNS1
TRNS1
tRNA 0.555 0.808
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 4575
Gene Symbol: TRNS2
TRNS2
tRNA 0.579 0.731
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 4577
Gene Symbol: TRNV
TRNV
tRNA 0.670 0.423
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 4578
Gene Symbol: TRNW
TRNW
tRNA 0.563 0.731
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0