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: 56947
Gene Symbol: MFF
MFF
mitochondrial fission factor 0.705 0.462 6.5E-02
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.110 None 1.000 0 0 2017 2017
Entrez Id: 5995
Gene Symbol: RGR
RGR
retinal G protein coupled receptor 0.691 0.385 2.4E-10
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 6010
Gene Symbol: RHO
RHO
rhodopsin 0.525 0.769 1.3E-04
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 6017
Gene Symbol: RLBP1
RLBP1
retinaldehyde binding protein 1 0.644 0.500 1.1E-05
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 60386
Gene Symbol: SLC25A19
SLC25A19
solute carrier family 25 member 19 0.653 0.577 0.65
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 60509
Gene Symbol: AGBL5
AGBL5
ATP/GTP binding protein like 5 0.711 0.269 2.4E-08
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 60684
Gene Symbol: TRAPPC11
TRAPPC11
trafficking protein particle complex 11 0.650 0.500 4.6E-10
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 6094
Gene Symbol: ROM1
ROM1
retinal outer segment membrane protein 1 0.579 0.654 4.1E-04
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 6100
Gene Symbol: RP9
RP9
RP9 pre-mRNA splicing factor 0.670 0.500 1.9E-02
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 6101
Gene Symbol: RP1
RP1
RP1 axonemal microtubule associated 0.663 0.462 4.4E-13
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 6102
Gene Symbol: RP2
RP2
RP2 activator of ARL3 GTPase 0.670 0.346 0.96
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 6103
Gene Symbol: RPGR
RPGR
retinitis pigmentosa GTPase regulator 0.536 0.692 1.00
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
retinoid isomerohydrolase RPE65 0.417 0.808 6.5E-14
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone 0.534 0.808 4.7E-13
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 5981
Gene Symbol: RFC1
RFC1
replication factor C subunit 1 0.541 0.808 0.97
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
peripherin 2 0.551 0.500 0.12
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 5949
Gene Symbol: RBP3
RBP3
retinol binding protein 3 0.621 0.500 1.1E-04
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1
RPGR interacting protein 1 0.553 0.654 1.3E-23
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 57165
Gene Symbol: GJC2
GJC2
gap junction protein gamma 2 0.593 0.692 1.0E-02
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 57192
Gene Symbol: MCOLN1
MCOLN1
mucolipin 1 0.601 0.654 5.8E-04
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 57410
Gene Symbol: SCYL1
SCYL1
SCY1 like pseudokinase 1 0.582 0.769 2.5E-08
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
TBC1 domain family member 24 0.530 0.808 1.3E-08
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A
coiled-coil and C2 domain containing 2A 0.532 0.692 1.7E-27
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 57670
Gene Symbol: KIAA1549
KIAA1549
KIAA1549 0.615 0.346 0.99
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 57709
Gene Symbol: SLC7A14
SLC7A14
solute carrier family 7 member 14 0.695 0.308 2.2E-02
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0