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: 55768
Gene Symbol: NGLY1
NGLY1
N-glycanase 1 0.601 0.654 1.5E-13
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
Entrez Id: 57724
Gene Symbol: EPG5
EPG5
ectopic P-granules autophagy protein 5 homolog 0.623 0.769 1.4E-13
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 5824
Gene Symbol: PEX19
PEX19
peroxisomal biogenesis factor 19 0.585 0.731 3.2E-04
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
peroxisomal biogenesis factor 2 0.582 0.654 2.6E-04
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 583
Gene Symbol: BBS2
BBS2
Bardet-Biedl syndrome 2 0.565 0.654 1.0E-17
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 5830
Gene Symbol: PEX5
PEX5
peroxisomal biogenesis factor 5 0.561 0.731 5.6E-05
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: 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: 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: 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: 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: 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: 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: 55812
Gene Symbol: SPATA7
SPATA7
spermatogenesis associated 7 0.656 0.385 5.2E-13
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 55823
Gene Symbol: VPS11
VPS11
VPS11 core subunit of CORVET and HOPS complexes 0.633 0.654 1.9E-05
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 55857
Gene Symbol: KIZ
KIZ
kizuna centrosomal protein 0.722 0.308
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 55967
Gene Symbol: NDUFA12
NDUFA12
NADH:ubiquinone oxidoreductase subunit A12 0.659 0.462 7.4E-05
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 55975
Gene Symbol: KLHL7
KLHL7
kelch like family member 7 0.581 0.731 4.6E-05
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
mitogen-activated protein kinase kinase 1 0.439 0.846 0.90
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 5605
Gene Symbol: MAP2K2
MAP2K2
mitogen-activated protein kinase kinase 2 0.534 0.731 0.97
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 5660
Gene Symbol: PSAP
PSAP
prosaposin 0.532 0.846 0.99
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