Mitochondrial disease

Disease Term Disease ID Gene Symbol Classification References Source
MITOCHONDRIAL DISEASE
MONDO:0044970
NDUFV2 Unknown
12754703 19167255 19672299 26008862 28429146 30369941 30831263 33340416 33811136 34276053 34405929
ClinGen GWAS catalog
NFU1 Unknown
21944046 22077971 25758857 25918518 33007329 36256512
ClinGen GWAS catalog
NNT Unknown
22634753 23747984 25613900 26070314 26523528 26548497 27129361 29046340 35627102 36478070 37352919 38261461 38795789
ClinGen GenCC
NUBPL Unknown
20818383 22826544 23553477 29982452 30897263 31787496 31917109 32518176 36280881
ClinGen Disgenet
PARS2 Unknown
25629079 27290639 28077841 29915213 29980628 30237576 32071833 32514400 34585293
CTD ClinGen
PDE12 Unknown — GenCC
PDHX Unknown
12557299 14518830 15303005 16566017 25087164 27343776
ClinGen GWAS catalog
PDSS1 Unknown
17332895 20889762 22494076 33285023 34765390
ClinGen GWAS catalog
PMPCA Unknown
25808372 26657514 27148589 30617178 33272776 33340416 35803560 37332652
ClinGen HPO
PRORP Unknown
27498866 31455609 34715011 37558808
ClinGen GWAS catalog
PUS1 Unknown
15108122 17056637 19731322 25058219 26556812 27197761 33340416
ClinGen Disgenet
SARS2 Unknown
21255763 24034276 27279129 28716262 29980628 30831263 31607746 33751860 33972171 34407605 35445976
ClinGen GWAS catalog
SCO1 Unknown
11013136 19295170 23878101 25683716 28973536 31352446
ClinGen GWAS catalog
SDHAF1 Unknown
19465911 22995659 26642834 31130284 33162331
ClinGen GWAS catalog
SDHB Unknown
17056719 22972948 26642834 26925370 27604842 32124427 32859697 33156815 33162331
ClinGen Disgenet
SDHD Unknown
24367056 26008905 33162331 34118887
ClinGen GWAS catalog
SFXN4 Unknown
24119684 31059822 31873120 33340416 35333655
CTD ClinGen
SLC25A1 Unknown
23393310 23561848 26870663 29238895 30108060 33340416
ClinGen GWAS catalog
SLC25A10 Unknown
16027120 29211846
ClinGen Orphanet
SLC25A12 Unknown
15987682 19641205 24515575 31403263 31594244 32700846 35008954 9722566
ClinGen GenCC
SLC25A26 Unknown
26522469 33608280 34375635 35024855 35730628
CTD ClinGen
SLC25A3 Unknown
17273968 21763135 24658400 25681081 27780865 33340416
CTD ClinGen
TACO1 Unknown
19503089 25044680 27319982 32444556 33709035
ClinGen GWAS catalog
TIMM22 Unknown
30452684
Disgenet
TIMMDC1 Unknown
24191001 24344204 28604674 28797839 33278652 36349561
ClinGen GWAS catalog
TMEM126A Unknown
19327736 20405026 22815638 30961538 31119195 32855858 33879611 33882309 36071901
ClinGen GWAS catalog
TMEM65 Unknown
28295037
ClinGen Disgenet
TMEM70 Unknown
18953340 19103153 21147908 21945727 24740313 28173120 35203486
ClinGen GWAS catalog
TOMM70 Unknown
31907385 32356556
Disgenet
TRMT5 Unknown
26189817 29021354 35342985 35460901
ClinGen GWAS catalog
TRMU Unknown
19732863 21153446 21890497 23625533 27689697 28562522 28732077 30137487 30740308 33205917 33365252 36305855
ClinGen GWAS catalog
TSFM Unknown
17033963 21741925 22277967 25037205 27677415 30297209 30911037 33340416 35071363
CTD ClinGen
TUFM Unknown
17160893 19524667 26741492 28132884 30903008 33340416
ClinGen GWAS catalog
TYMP Unknown
12077348 15781193 21451581 30959750 33340416 9924029
ClinGen Disgenet
UQCRC2 Unknown
23281071 23749988 24075186 28275242 28844695 33865955
ClinGen ClinVar
VARS2 Unknown
24827421 25058219 27502409 29314548 29980628 30679003 33937156 40091977
ClinGen GWAS catalog
WARS2 Unknown
28236339 28650581 28905505 29120065 29980628 30388402 30566859 30920170 34890876 36756855
ClinGen Disgenet
YME1L1 Unknown
22262461 26785494 27495975 37123411
CTD ClinGen
MITOCHONDRIAL DISEASES
C0751651
AARS2 Unknown — Disgenet
ABCB7 Unknown — Disgenet
ACO2 Unknown — Disgenet
AGK Unknown — Disgenet
APOO Unknown — Disgenet
ATP5F1A Unknown — Disgenet
ATP5F1D Unknown — Disgenet
ATP5MK Unknown — Disgenet
ATP6 Unknown — Disgenet
ATP8 Unknown — Disgenet
ATPAF2 Unknown — Disgenet
BOLA3 Unknown — Disgenet