Mitochondrial disease

Disease Term Disease ID Gene Symbol Classification References Source
MITOCHONDRIAL DISEASE
MONDO:0044970
AARS2 Causal
21549344 24808023 29228266 29980628 30285085 31705293
ClinGen GenCC
C1QBP Causal
22904065 28498888 28942965 29123152 32652806 33344382 33977026 34003581 34419324 35119291 35310974 9305894
ClinGen GWAS catalog
COX20 Causal
22095077 23125284 24202787 24403053 30656193 31079202 32606554 32999401 33751098
ClinGen Orphanet
FOXRED1 Causal
20818383 20858599 22200994 25678554 28797839 30392038 30723688 33613441
ClinGen Disgenet
MPV17 Causal
16582910 16909392 1696177 22508010 22964873 24247928 26437932 26760297 29282788 29318572 30298599 30833296 33340416
ClinGen GWAS catalog
MRPL39 Causal
33340416 37133451
ClinGen Disgenet
NARS2 Causal
25807530 26402642 29980628 31967322 32488467
CTD
NDUFC2 Causal
27509854 32969598
CTD ClinGen
NDUFS1 Causal
11349233 20382551 21458341 22200994 24952175 25615419 33340416
ClinGen GWAS catalog
NDUFS4 Causal
10944442 11181577 12616398 14749350 14765537 18396137 22326555 22653057 24020637 27079373 27671926 29590638 33340416 35379322 9463323
ClinGen Disgenet
RARS2 Causal
17847012 20635367 21273289 22569581 24639874 25809939 31536827 32071833 33209735
ClinGen GWAS catalog
RMND1 Causal
23022099 25058219 25604853 26395190 27412952
ClinGen GWAS catalog
SLC25A4 Causal
30013777 27693233 16155110 22187496 25732997 23401503
GWAS catalog
SURF1 Causal
10443880 22488715 23829769 25164807 27756633 29601977 36795052 9837813
ClinGen Disgenet
TK2 Causal
11687801 15639197 16908738 18467430 20123860 29602790 33340416
ClinGen GWAS catalog
TMEM126B Causal
22982022 27290639 27374773 27374774 27977873 29093663
ClinGen GWAS catalog
TRIT1 Causal
24901367 26857223 28185376 30977854 31140736 32088416 32376682 32948376 35418828 35568357
ClinGen GWAS catalog
TRMT10C Causal
27132592 33886802
CTD ClinGen
TTC19 Causal
21278747 24397319 25652355 28673544 37927170
ClinGen GWAS catalog
ABCB7 Unknown
10196363 11050011 11843825 16467350 19046159 21464130 22398176 26242992 33340416 34354969
ClinGen GWAS catalog
ACO2 Unknown
22405087 23438437 25351951 26992325 29564393 29577077 30689204 31106992
CTD ClinGen
AGK Unknown
22284826 25208612 28712726 28868593 33340416
ClinGen GWAS catalog
APOO Unknown — GenCC
ATP5F1A Unknown
23596069 23599390 30950220 34483339 34954817
GWAS catalog
ATP5MK Unknown
21345788 21874297 29234032 29917077
ClinGen GWAS catalog
ATPAF2 Unknown
14757859 2142305 30369941 34375736 35330152
ClinGen Disgenet
BOLA3 Unknown
21944046 22562699 24334290 33340416
ClinGen GWAS catalog
CARS2 Unknown
25361775 25787132 29079736 29980628 30139652
ClinGen GWAS catalog
CHCHD10 Unknown
24934289 25113787 25193783 25428574 25833818 29121267 30877432 31261376 35700042
ClinGen GWAS catalog
COA3 Unknown
22610097 23260140 23362268 25604084
ClinGen GWAS catalog
COA7 Unknown
24333015 27683825 29718187 34322155 35210360 35603692 37750949
ClinGen GWAS catalog
COA8 Unknown
25175347 29577824 30552096 31555154 32637636 33340416
ClinGen GWAS catalog
COQ2 Unknown
16400613 17332895 17855635 20495179 21703546 23631824 25564041 26922674 29637272
ClinGen GWAS catalog
COQ4 Unknown
18474229 25658047 28472853 28540186 29539633 30225196 30659264 33340416
ClinGen Disgenet
COQ5 Unknown
21937992 25152161 29044765 33340416 36266294 37599337
ClinGen Disgenet
COQ8B Unknown
24270420 32381600
ClinGen GWAS catalog
COQ9 Unknown
19375058 20495179 23255162 26081641 29560582 31821167
ClinGen ClinVar
COX10 Unknown
10767350 12928484 15455402 16103131 24100867 26741492 27290639 30588737 32313153 33340416
ClinGen GWAS catalog
COX14 Unknown
22243966
ClinGen ClinVar
COX15 Unknown
12474143 15235026 15863660 21412973 21723506 26039449 26959537 31967322 32232962 33340416 33746038 34440436
ClinGen GWAS catalog
COX4I1 Unknown
28766551 30030519 31290619 32075102 33578848 33672589
ClinGen GWAS catalog
COX4I2 Unknown
19268275 22730437 30030519 32075102
ClinGen GWAS catalog
COX6A1 Unknown
20307258 25152455 26302975 30030519
ClinGen GWAS catalog
COX6A2 Unknown
11788423 23460811 30030519 31155743 8241294
ClinGen GWAS catalog
COX6B1 Unknown
18499082 22277967 24781756 34937540 9199249
ClinGen GWAS catalog
COX8A Unknown
26685157 30030519 33705280
ClinGen GWAS catalog
CYC1 Unknown
23910460 27074787 28844695 34252606
ClinGen GWAS catalog
D2HGDH Unknown
15609246 16081310 19169842 20020533 30908763 31431883 33340416 37043428
CTD ClinGen
DARS2 Unknown
17384640 21493805 23216004 24639874 33977142
ClinGen GWAS catalog
DGUOK Unknown
11687800 17073823 18205204 19502998 26874653 28215579 29137425 30956829 31127938 35750291
ClinGen GWAS catalog