Mitochondrial disease

Disease Term Disease ID Gene Symbol Classification References Source
MITOCHONDRIAL DISEASE
MONDO:0044970
EARS2 Unknown
22492562 27117034 27206875 27571996 32802952 33855712 36349561
ClinGen Disgenet
ELAC2 Unknown
21146608 21593607 23849775 30126926 31045291 34338278
ClinGen ClinVar
FASTKD2 Unknown
18771761 26370583 28499982 31944455 33340416 34234304
ClinGen Disgenet
FBXL4 Unknown
23993193 23993194 25868664 31969900 32525278 34602956 35881484
ClinGen GWAS catalog
GFER Unknown
19409522 26018198 28155230
ClinGen GWAS catalog
GTPBP3 Unknown
25434004 28732077 29390138 30916346 34276756
ClinGen Disgenet
GUK1 Unknown — GenCC
IBA57 Unknown
23462291 25609768 25971455 27785568 28913435 33007329
CTD ClinGen
IDH2 Unknown
20847235 24049096 24589777 27469509 33340416 35359529
ClinGen GWAS catalog
ISCA2 Unknown
22323289 25539947 25558065 28803783 29122497 29297947 29359243 31279336 32424628 33340416
ClinGen GWAS catalog
ISCU Unknown
18296749 18304497 1918374 19567699 20206689 24573684 27783661 33340416 35079622 8254022
ClinGen
L2HGDH Unknown
15385440 16134148 17475916 24573090 25982940 28137912 29980873 33839641 34270333 34719772
ClinGen GWAS catalog
LIPT2 Unknown
28757203 28803783
ClinGen GWAS catalog
LRPPRC Unknown
12529507 20677761 21266382 22045337 25428350 25835550 26510951 28575497 32972427 33340416 38046674
ClinGen GWAS catalog
LYRM7 Unknown
23168492 24014394 25914718 26912632 28844695
CTD ClinGen
MARS2 Unknown
22448145 25754315 29980628
ClinGen ClinVar
MGME1 Unknown
23313956 28711739 29572490 33340416 35533204 37429773
ClinGen GWAS catalog
MICOS13 Unknown
25997101 27485409 27623147 29618761 32749073 33340416
ClinGen GWAS catalog
MICU1 Unknown
24336167 27477272 29721912 33969448 35302860
ClinGen GWAS catalog
MICU2 Unknown
24560927 26903221 29053821 29073106
ClinGen GWAS catalog
MIPEP Unknown
27391121 27799064 31607746 33340416 34620555 35598585
ClinGen GWAS catalog
MPC1 Unknown
22628558 33340416 34873722 36079864
ClinGen GWAS catalog
MRPL3 Unknown
21786366 27815843 32341096 34008913
CTD ClinGen
MRPL44 Unknown
23315540 25797485 33340416 33742325 34140213
ClinGen GWAS catalog
MRPS16 Unknown
15505824
ClinGen Disgenet
MRPS22 Unknown
17873122 18539099 21189481 25663021 29566152
ClinGen GWAS catalog
MRPS25 Unknown
11279123 31039582
ClinGen GWAS catalog
MRPS28 Unknown
11279123 30566640
ClinGen GWAS catalog
MSTO1 Unknown
17349998 28544275 29255146 29339779 30684668 31463572 33612823 9144213
ClinGen Disgenet
MTO1 Unknown
22608499 23929671 25058219 25506927 29331171 33340416 33836087 34547275
ClinGen GWAS catalog
MTPAP Unknown
15769737 20970105 27391121 31779033 32376682 33340416 35235001
ClinGen GWAS catalog
MTRFR Unknown
20598281 22821833 23188110 24198383 24284555 25995486 26380172 27858754
ClinGen GWAS catalog
NAXD Unknown
30576410 31755961 32462209 33340416 36834994
ClinGen GenCC
NDUFA10 Unknown
19672299 21150889 22200994 26741492 27509854 27626371 28247337 35094435 35379322 36270260
CTD ClinGen
NDUFA11 Unknown
18306244 24191001 27626371 30531981 31074871 32712949 34106255
ClinGen GWAS catalog
NDUFA2 Unknown
18513682 22822087 27159321 27626371 28857146 32154054 33340416
CTD ClinGen
NDUFA8 Unknown
27626371 27626380 32385911 33153867 33340416
ClinGen
NDUFAF1 Unknown
17557076 18940309 21931170 22387847 23226344 27509854 27626371
ClinGen Disgenet
NDUFAF2 Unknown
16200211 19384974 20818383 23702311 25613900 26795593 28797839 37938061
ClinGen GWAS catalog
NDUFAF3 Unknown
19463981 22387847 27509854 27986404 29344937 34386730
ClinGen
NDUFAF4 Unknown
18179882 28853723 30369941 32949790 33340416
ClinGen Disgenet
NDUFAF5 Unknown
18940309 19542079 21607760 23536703 25613900 28797839 29581464 30473481 34797029 36580434
ClinGen GWAS catalog
NDUFAF6 Unknown
18614015 23509070 26741492 27466185 27623250 28639102 29531337 30642748 31967322 33340416 37364055 38720117
ClinGen Orphanet
NDUFB10 Unknown
19672299 27509854 27626371 28040730 32025618 33169436
ClinGen GWAS catalog
NDUFB11 Unknown
25772934 25921236 26741492 27102574 27488349 27509854 28050600 30423443
ClinGen Disgenet
NDUFB3 Unknown
22277967 22499348 27091925 27509854 27626371 31000363
CTD ClinGen
NDUFS2 Unknown
11220739 11278828 18178500 20819849 22036843 27509854 28031252 31297047 31411514 33744462 34732887
ClinGen GWAS catalog
NDUFS6 Unknown
15372108 19259137 19672299 22200994 22474353 25902503 27290639 27509854 30948790
ClinGen HPO
NDUFS7 Unknown
10360771 12049648 15956670 17275378 17604671 22644603 27509854 27626380 30369941 30429455 30972103 38316835
ClinGen Disgenet
NDUFS8 Unknown
15159508 19336460 19672299 20818383 20819849 22499348 23430795 29285794 33340416 36101822 9837812
ClinGen GWAS catalog