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: 9927
Gene Symbol: MFN2
MFN2
mitofusin 2 0.471 0.846 0.99
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.500 None 1.000 0 0 2006 2017
Entrez Id: 91137
Gene Symbol: SLC25A46
SLC25A46
solute carrier family 25 member 46 0.695 0.308 1.3E-05
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.440 None 1.000 0 0 2015 2018
Entrez Id: 10059
Gene Symbol: DNM1L
DNM1L
dynamin 1 like 0.475 0.808 5.7E-04
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.420 None 0.667 0 0 2007 2017
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1
nicotinamide nucleotide adenylyltransferase 1 0.656 0.269 3.5E-02
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.410 None 1.000 0 0 2012 2012
Entrez Id: 4722
Gene Symbol: NDUFS3
NDUFS3
NADH:ubiquinone oxidoreductase core subunit S3 0.581 0.769 5.8E-04
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.400 None 1.000 0 0 2004 2004
Entrez Id: 6904
Gene Symbol: TBCD
TBCD
tubulin folding cofactor D 0.599 0.615 1.0E-07
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.400 None 1.000 0 0 2016 2016
Entrez Id: 4976
Gene Symbol: OPA1
OPA1
OPA1 mitochondrial dynamin like GTPase 0.510 0.846 0.99
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.400 None 1.000 0 0 2001 2019
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
abhydrolase domain containing 12 0.666 0.385 1.9E-05
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.400 strong 1.000 0 0 2014 2018
Entrez Id: 55210
Gene Symbol: ATAD3A
ATAD3A
ATPase family AAA domain containing 3A 0.628 0.692 4.1E-09
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.400 strong 1.000 0 0 2016 2016
Entrez Id: 7466
Gene Symbol: WFS1
WFS1
wolframin ER transmembrane glycoprotein 0.528 0.846 1.6E-38
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.200 None 0.938 0 0 1999 2018
Entrez Id: 84233
Gene Symbol: TMEM126A
TMEM126A
transmembrane protein 126A 0.805 0.269 2.2E-03
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.160 None 1.000 0 0 2009 2019
Entrez Id: 80207
Gene Symbol: OPA3
OPA3
outer mitochondrial membrane lipid metabolism regulator OPA3 0.653 0.385 0.57
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.160 None 1.000 0 0 2001 2015
Entrez Id: 7025
Gene Symbol: NR2F1
NR2F1
nuclear receptor subfamily 2 group F member 1 0.656 0.654 0.99
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.150 None 1.000 0 0 2014 2020
Entrez Id: 91574
Gene Symbol: C12orf65
C12orf65
chromosome 12 open reading frame 65 0.678 0.346 0.21
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.150 None 1.000 0 0 2012 2015
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.130 None 1.000 0 0 2008 2011
Entrez Id: 51594
Gene Symbol: NBAS
NBAS
NBAS subunit of NRZ tethering complex 0.566 0.692 5.0E-43
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.130 None 1.000 0 0 2010 2017
Entrez Id: 8573
Gene Symbol: CASK
CASK
calcium/calmodulin dependent serine protein kinase 0.538 0.808 1.00
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.120 None 1.000 0 0 2010 2019
Entrez Id: 493856
Gene Symbol: CISD2
CISD2
CDGSH iron sulfur domain 2 0.590 0.692 0.42
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.120 None 1.000 0 0 2014 2017
Entrez Id: 50
Gene Symbol: ACO2
ACO2
aconitase 2 0.619 0.654 0.21
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.120 None 1.000 0 0 2014 2015
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
twinkle mtDNA helicase 0.516 0.692 3.2E-03
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.120 None 1.000 0 0 2008 2016
Entrez Id: 7345
Gene Symbol: UCHL1
UCHL1
ubiquitin C-terminal hydrolase L1 0.482 0.885 0.99
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.110 None 1.000 0 0 2015 2015
Entrez Id: 28962
Gene Symbol: OSTM1
OSTM1
osteoclastogenesis associated transmembrane protein 1 0.644 0.577 1.1E-02
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.110 None 1.000 0 0 2006 2006
Entrez Id: 6389
Gene Symbol: SDHA
SDHA
succinate dehydrogenase complex flavoprotein subunit A 0.517 0.731 2.6E-10
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.110 None < 0.001 0 0 2005 2005
Entrez Id: 6314
Gene Symbol: ATXN7
ATXN7
ataxin 7 0.581 0.654 0.96
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.110 None 1.000 0 0 2003 2003
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