Source: CLINVAR

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: 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 1 2015 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 1 1 2016 2016
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 1 1 2014 2018
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
phosphatidylinositol glycan anchor biosynthesis class Q 0.610 0.577 1.4E-06
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.400 strong 1.000 0 1 2019 2019
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 1 2 2008 2016
Entrez Id: 51102
Gene Symbol: MECR
MECR
mitochondrial trans-2-enoyl-CoA reductase 0.736 0.385 2.2E-05
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.110 None 1.000 0 6 2016 2016
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
contactin associated protein 1 0.554 0.577 3.4E-05
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 1.000 1 1 2017 2017
Entrez Id: 4285
Gene Symbol: MIPEP
MIPEP
mitochondrial intermediate peptidase 0.666 0.615 1.6E-15
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 1
Entrez Id: 10939
Gene Symbol: AFG3L2
AFG3L2
AFG3 like matrix AAA peptidase subunit 2 0.588 0.462 5.3E-09
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 1
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
calcium voltage-gated channel subunit alpha1 C 0.510 0.846 1.00
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 1
Entrez Id: 122961
Gene Symbol: ISCA2
ISCA2
iron-sulfur cluster assembly 2 0.743 0.231 2.4E-08
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 1
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 1
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
collagen type IV alpha 1 chain 0.484 0.731 1.00
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 1
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A
kinesin family member 1A 0.559 0.692 1.00
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 7
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
peroxisomal biogenesis factor 6 0.547 0.731 6.3E-06
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 2
Entrez Id: 23203
Gene Symbol: PMPCA
PMPCA
peptidase, mitochondrial processing subunit alpha 0.633 0.577 3.4E-11
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 2
Entrez Id: 4942
Gene Symbol: OAT
OAT
ornithine aminotransferase 0.593 0.731 7.7E-07
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 1
Entrez Id: 4915
Gene Symbol: NTRK2
NTRK2
neurotrophic receptor tyrosine kinase 2 0.479 0.808 1.00
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 1
Entrez Id: 10352
Gene Symbol: WARS2
WARS2
tryptophanyl tRNA synthetase 2, mitochondrial 0.617 0.577 5.1E-02
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 2