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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:mitochondrial DNA depletion syndrome
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Accession:DOID:0070329 term browser browse the term
Definition:A mitochondrial metabolism disease that is characterized by significant reduction in mitochondrial DNA in affected tissues, resulting in impaired mtDNA-encoded protein synthesis and energy production in the affected tissues and organs. (DO)
Synonyms:exact_synonym: mitochondrial DNA depletion syndromes;   mtDNA depletion syndrome
 xref: GARD:13643;   OMIM:PS603041;   ORDO:35698
For additional species annotation, visit the Alliance of Genome Resources.


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mitochondrial DNA depletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dguok deoxyguanosine kinase ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome ClinVar NCBI chr 4:115,180,433...115,208,061
Ensembl chr 4:115,180,433...115,208,061
JBrowse link
G Fbxl4 F-box and leucine-rich repeat protein 4 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome ClinVar PMID:23993193 PMID:24033266 PMID:25741868 PMID:27099744 PMID:27290639 NCBI chr 5:36,555,061...36,628,920
Ensembl chr 5:36,555,109...36,629,689
JBrowse link
G Mpv17 mitochondrial inner membrane protein MPV17 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome ClinVar PMID:28492532 NCBI chr 6:26,585,713...26,600,265
Ensembl chr 6:26,587,443...26,599,511
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome ClinVar PMID:16401742 PMID:18487244 PMID:21301859 PMID:21880868 PMID:22000311 PMID:22114710 PMID:22357363 PMID:24033266 PMID:24508722 PMID:25203713 PMID:25741868 PMID:26095671 PMID:27987238 PMID:28337550 PMID:28492532 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
JBrowse link
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome ClinVar NCBI chr 7:76,750,045...76,780,817
Ensembl chr 7:76,750,050...76,780,817
JBrowse link
G Sucla2 succinate-CoA ligase ADP-forming subunit beta ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome ClinVar NCBI chr15:55,461,695...55,516,954
Ensembl chr15:55,461,695...55,516,952
JBrowse link
G Suclg1 succinate-CoA ligase GDP/ADP-forming subunit alpha ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:101,181,315...101,210,692
Ensembl chr 4:101,180,404...101,210,746
JBrowse link
G Tk2 thymidine kinase 2 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome ClinVar PMID:16504786 PMID:24033266 PMID:25446393 PMID:25741868 NCBI chr19:917,203...939,236
Ensembl chr19:917,203...939,221
JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome ClinVar NCBI chr 1:264,756,060...264,762,892
Ensembl chr 1:264,756,499...264,762,892
JBrowse link
Alpers-Huttenlocher syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp4 aquaporin 4 ISO RGD PMID:20680636 RGD:5148026 NCBI chr18:6,766,009...6,782,757
Ensembl chr18:6,765,945...6,782,996
JBrowse link
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:10431241 PMID:18231121 PMID:20236127 PMID:20979233 PMID:25741868 PMID:28492532 NCBI chr20:28,179,132...28,263,092
Ensembl chr20:28,179,140...28,263,037
JBrowse link
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4A (Alpers type)
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18414213 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:21880868 PMID:23524600 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28492532 NCBI chr 1:141,116,565...141,172,997
Ensembl chr 1:141,120,166...141,172,483
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit susceptibility ISO
IAGP
DNA:mutations:cds:
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive
DNA:missense mutation:cds:p.P1073L (3218C>T) (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4A (Alpers type)
DNA:missense mutations:cds:
ClinVar
CTD
OMIM
PMID:632821 PMID:1582434 PMID:2067633 PMID:2725645 PMID:8884268 PMID:9500334 PMID:11431686 PMID:11571332 PMID:11897778 PMID:12073019 PMID:12210792 PMID:12297582 PMID:12565911 PMID:12707443 PMID:12825077 PMID:12872260 PMID:12975295 PMID:14467368 PMID:14557557 PMID:14635118 PMID:14694057 PMID:14745080 PMID:15122711 PMID:15181170 PMID:15258572 PMID:15349879 PMID:15351195 PMID:15477547 PMID:15534189 PMID:15689359 PMID:15800909 PMID:15824347 PMID:15913923 PMID:15917273 PMID:15929042 PMID:16024923 PMID:16080118 PMID:16130100 PMID:16177225 PMID:16368709 PMID:16401742 PMID:16545482 PMID:16621917 PMID:16634032 PMID:16638794 PMID:16639411 PMID:16715201 PMID:16857757 PMID:16919951 PMID:16929381 PMID:16940310 PMID:16943369 PMID:16957900 PMID:17067213 PMID:17088268 PMID:17280874 PMID:17426723 PMID:17436221 PMID:17438011 PMID:17452231 PMID:17502560 PMID:17538929 PMID:17846414 PMID:17894835 PMID:17923349 PMID:17950645 PMID:17980715 PMID:18156159 PMID:18195149 PMID:18195151 PMID:18294203 PMID:18321754 PMID:18414213 PMID:18487244 PMID:18500570 PMID:18546343 PMID:18546365 PMID:18585914 PMID:18716558 PMID:18783964 PMID:18828154 PMID:18991199 PMID:19010300 PMID:19103152 PMID:19125351 PMID:19189930 PMID:19195941 PMID:19251978 PMID:19275594 PMID:19307547 PMID:19344718 PMID:19364868 PMID:19478085 PMID:19501198 PMID:19538466 PMID:19566497 PMID:19578034 PMID:19629138 PMID:19752458 PMID:19762913 PMID:19766516 PMID:19813183 PMID:19815814 PMID:19837034 PMID:19862739 PMID:20138553 PMID:20142534 PMID:20153822 PMID:20176107 PMID:20185557 PMID:20227526 PMID:20301791 PMID:20385918 PMID:20434700 PMID:20438629 PMID:20513108 PMID:20576279 PMID:20601675 PMID:20691285 PMID:20701905 PMID:20803511 PMID:20818383 PMID:20837861 PMID:20837862 PMID:20843780 PMID:20883824 PMID:20981092 PMID:21038416 PMID:21138766 PMID:21228000 PMID:21228398 PMID:21235791 PMID:21236670 PMID:21259344 PMID:21276947 PMID:21282586 PMID:21301859 PMID:21305355 PMID:21357833 PMID:21455106 PMID:21515089 PMID:21550804 PMID:21647632 PMID:21654874 PMID:21670405 PMID:21686371 PMID:21696159 PMID:21704543 PMID:21824913 PMID:21856450 PMID:21880868 PMID:21953457 PMID:21956653 PMID:21993618 PMID:22000311 PMID:22006280 PMID:22114710 PMID:22166854 PMID:22189570 PMID:22237560 PMID:22277967 PMID:22334187 PMID:22342071 PMID:22357363 PMID:22470557 PMID:22494076 PMID:22552686 PMID:22616202 PMID:22647225 PMID:22711370 PMID:22727047 PMID:22778364 PMID:22863191 PMID:22931735 PMID:22933815 PMID:22987704 PMID:22995991 PMID:23066759 PMID:23077218 PMID:23084792 PMID:23208208 PMID:23212759 PMID:23248042 PMID:23250882 PMID:23251356 PMID:23299917 PMID:23324391 PMID:23426270 PMID:23430834 PMID:23446635 PMID:23446645 PMID:23448099 PMID:23524600 PMID:23545419 PMID:23665194 PMID:23719791 PMID:23783014 PMID:23804100 PMID:23808377 PMID:23811324 PMID:23873972 PMID:23921535 PMID:24033266 PMID:24091540 PMID:24099403 PMID:24122062 PMID:24259288 PMID:24265579 PMID:24272679 PMID:24288107 PMID:24331360 PMID:24508722 PMID:24642831 PMID:24725338 PMID:24841123 PMID:25025039 PMID:25065347 PMID:25118206 PMID:25203713 PMID:25281868 PMID:25286830 PMID:25326637 PMID:25356970 PMID:25462018 PMID:25466440 PMID:25488682 PMID:25585994 PMID:25660390 PMID:25713120 PMID:25741868 PMID:25771874 PMID:25850945 PMID:25914719 PMID:25940035 PMID:26050231 PMID:26077851 PMID:26095671 PMID:26104464 PMID:26169155 PMID:26337858 PMID:26357557 PMID:26467025 PMID:26468652 PMID:26557169 PMID:26607151 PMID:26735972 PMID:26755490 PMID:26942291 PMID:26942292 PMID:26968897 PMID:27016405 PMID:27119776 PMID:27185166 PMID:27271921 PMID:27290639 PMID:27345795 PMID:27381400 PMID:27422324 PMID:27450679 PMID:27538604 PMID:27538665 PMID:27822509 PMID:27826120 PMID:27838477 PMID:27987238 PMID:28128857 PMID:28130605 PMID:28154168 PMID:28206745 PMID:28284481 PMID:28337550 PMID:28471437 PMID:28480171 PMID:28492532 PMID:28634151 PMID:28771251 PMID:28776642 PMID:28812649 PMID:28865037 PMID:28901595 PMID:28958595 PMID:29029963 PMID:29190809 PMID:29272804 PMID:29278894 PMID:29302508 PMID:29341116 PMID:29358615 PMID:29423831 PMID:29474836 PMID:29482223 PMID:29574624 PMID:29588995 PMID:29644085 PMID:29712893 PMID:29915382 PMID:29920680 PMID:29950568 PMID:29992832 PMID:30021052 PMID:30167885 PMID:30255931 PMID:30290626 PMID:30311386 PMID:30373890 PMID:30423451 PMID:30831263 PMID:30843307, PMID:15689359, PMID:20142534, PMID:16896309, PMID:22237560 RGD:8694184, RGD:15039298, RGD:8694317, RGD:8694284 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
JBrowse link
G Rlbp1 retinaldehyde binding protein 1 ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar NCBI chr 1:141,097,789...141,111,375
Ensembl chr 1:141,097,695...141,111,400
JBrowse link
mitochondrial DNA depletion syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: MNGIE, TYMP-RELATED ClinVar PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:23524600 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28492532 NCBI chr 1:141,116,565...141,172,997
Ensembl chr 1:141,120,166...141,172,483
JBrowse link
G Ncaph2 non-SMC condensin II complex, subunit H2 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 (MNGIE type) ClinVar PMID:23643385 PMID:25741868 PMID:28492532 NCBI chr 7:130,326,597...130,343,655
Ensembl chr 7:130,326,600...130,342,493
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: MNGIE, TYMP-RELATED
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 (MNGIE type)
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:632821 PMID:11431686 PMID:11571332 PMID:12210792 PMID:12297582 PMID:12565911 PMID:12707443 PMID:12825077 PMID:12872260 PMID:12975295 PMID:14635118 PMID:14694057 PMID:15122711 PMID:15181170 PMID:15349879 PMID:15351195 PMID:15477547 PMID:15689359 PMID:15824347 PMID:15917273 PMID:15929042 PMID:16024923 PMID:16130100 PMID:16177225 PMID:16368709 PMID:16401742 PMID:16621917 PMID:16638794 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17846414 PMID:17950645 PMID:17980715 PMID:18414213 PMID:18487244 PMID:18500570 PMID:18546343 PMID:18546365 PMID:18783964 PMID:18828154 PMID:18991199 PMID:19010300 PMID:19103152 PMID:19189930 PMID:19251978 PMID:19307547 PMID:19478085 PMID:19501198 PMID:19538466 PMID:19578034 PMID:19752458 PMID:19766516 PMID:19813183 PMID:19862739 PMID:20138553 PMID:20142534 PMID:20301791 PMID:20385918 PMID:20434700 PMID:20513108 PMID:20576279 PMID:20691285 PMID:20818383 PMID:20837861 PMID:21038416 PMID:21138766 PMID:21228000 PMID:21228398 PMID:21235791 PMID:21259344 PMID:21276947 PMID:21357833 PMID:21515089 PMID:21647632 PMID:21654874 PMID:21670405 PMID:21686371 PMID:21880868 PMID:21993618 PMID:22006280 PMID:22189570 PMID:22342071 PMID:22494076 PMID:22616202 PMID:22647225 PMID:22711370 PMID:22863191 PMID:22931735 PMID:22995991 PMID:23084792 PMID:23212759 PMID:23250882 PMID:23251356 PMID:23299917 PMID:23324391 PMID:23426270 PMID:23430834 PMID:23448099 PMID:23524600 PMID:23665194 PMID:23783014 PMID:23804100 PMID:23811324 PMID:24033266 PMID:24122062 PMID:24259288 PMID:24272679 PMID:24331360 PMID:24508722 PMID:24725338 PMID:25118206 PMID:25286830 PMID:25462018 PMID:25585994 PMID:25660390 PMID:25741868 PMID:25940035 PMID:26104464 PMID:26337858 PMID:26467025 PMID:26468652 PMID:26735972 PMID:26942291 PMID:26942292 PMID:27119776 PMID:27538604 PMID:27987238 PMID:28130605 PMID:28154168 PMID:28284481 PMID:28337550 PMID:28492532 PMID:28771251 PMID:28776642 PMID:28812649 PMID:29029963 PMID:29341116 PMID:29474836 PMID:29482223 PMID:29588995 PMID:30255931 PMID:30290626 PMID:30311386 PMID:30373890 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
JBrowse link
G Tymp thymidine phosphorylase ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 (MNGIE type)
ClinVar Annotator: match by term: MNGIE, TYMP-RELATED
ClinVar Annotator: match by OMIM:603041
ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE)
OMIM
ClinVar
PMID:2005900 PMID:9924029 PMID:10852545 PMID:12084896 PMID:12177387 PMID:12529715 PMID:14720311 PMID:14757860 PMID:15505189 PMID:15742109 PMID:15781193 PMID:16178026 PMID:16198108 PMID:16995425 PMID:17294068 PMID:17437622 PMID:18280229 PMID:19056268 PMID:19344718 PMID:19748572 PMID:19853446 PMID:20151198 PMID:20232099 PMID:20301358 PMID:21933806 PMID:23341816 PMID:23430799 PMID:23643385 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27261974 PMID:28492532 PMID:30311386 NCBI chr 7:130,342,481...130,347,845
Ensembl chr 7:130,342,483...130,347,587
JBrowse link
mitochondrial DNA depletion syndrome 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mgme1 mitochondrial genome maintenance exonuclease 1 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 11
ClinVar Annotator: match by OMIM:615084
OMIM
ClinVar
PMID:23313956 PMID:25741868 PMID:28492532 PMID:28711739 NCBI chr 3:138,397,925...138,406,672
Ensembl chr 3:138,398,011...138,406,666
JBrowse link
mitochondrial DNA depletion syndrome 12a term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcnkb chloride voltage-gated channel Kb ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant ClinVar PMID:21415153 PMID:24033266 PMID:25741868 PMID:26467025 NCBI chr 5:159,950,384...159,973,576
Ensembl chr 5:159,950,392...159,962,676
JBrowse link
G Ednrb endothelin receptor type B ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant ClinVar PMID:8852659 PMID:10090908 PMID:10874640 PMID:16145050 PMID:16954478 PMID:19320733 PMID:20009762 PMID:21507037 PMID:22993632 PMID:22995991 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27535533 PMID:28492532 PMID:29407415 NCBI chr15:88,004,775...88,036,354
Ensembl chr15:88,006,977...88,036,354
JBrowse link
G Slc25a4 solute carrier family 25 member 4 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant ClinVar
OMIM
PMID:25741868 PMID:27693233 NCBI chr16:49,266,903...49,270,698
Ensembl chr16:49,266,903...49,270,698
JBrowse link
mitochondrial DNA depletion syndrome 12b term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a4 solute carrier family 25 member 4 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive OMIM
ClinVar
PMID:7609449 PMID:8479824 PMID:16155110 PMID:22187496 PMID:25732997 PMID:25741868 PMID:30311386 NCBI chr16:49,266,903...49,270,698
Ensembl chr16:49,266,903...49,270,698
JBrowse link
mitochondrial DNA depletion syndrome 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbxl4 F-box and leucine-rich repeat protein 4 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) OMIM
ClinVar
PMID:23993193 PMID:23993194 PMID:24033266 PMID:24088041 PMID:25326635 PMID:25558065 PMID:25741868 PMID:25868664 PMID:26633545 PMID:27099744 PMID:27182039 PMID:27182309 PMID:27290639 PMID:27743463 PMID:27858371 PMID:28492532 PMID:28940506 PMID:31474762 PMID:32576985 NCBI chr 5:36,555,061...36,628,920
Ensembl chr 5:36,555,109...36,629,689
JBrowse link
mitochondrial DNA depletion syndrome 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) ClinVar
OMIM
PMID:25741868 PMID:26561570 NCBI chr11:74,717,600...74,793,902
Ensembl chr11:74,720,254...74,793,803
JBrowse link
mitochondrial DNA depletion syndrome 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tfam transcription factor A, mitochondrial ISO ClinVar Annotator: match by OMIM:617156 ClinVar
OMIM
PMID:27448789 NCBI chr20:18,594,057...18,606,106
Ensembl chr20:18,594,037...18,606,151
JBrowse link
Mitochondrial DNA Depletion Syndrome 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Milr1 mast cell immunoglobulin-like receptor 1 ISO ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME 16 (HEPATIC TYPE) ClinVar PMID:25741868 PMID:27592148 PMID:30157269 NCBI chr10:94,944,243...94,961,795
Ensembl chr10:94,944,436...94,961,791
JBrowse link
G Polg2 DNA polymerase gamma 2, accessory subunit ISO ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME 16 (HEPATIC TYPE) OMIM
ClinVar
PMID:25741868 PMID:27592148 PMID:30157269 NCBI chr10:94,968,836...94,979,259
Ensembl chr10:94,968,836...94,979,259
JBrowse link
Mitochondrial DNA Depletion Syndrome 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrm2 mitochondrial rRNA methyltransferase 2 ISO ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME 17 OMIM
ClinVar
PMID:28973171 NCBI chr12:16,398,749...16,403,656
Ensembl chr12:16,398,749...16,403,656
JBrowse link
Mitochondrial DNA Depletion Syndrome 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a21 solute carrier family 25 member 21 ISO ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME 18 ClinVar
OMIM
PMID:29517768 NCBI chr 6:77,624,384...78,121,339
Ensembl chr 6:77,624,385...77,848,434
JBrowse link
Mitochondrial DNA Depletion Syndrome 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a10 solute carrier family 25 member 10 ISO ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME 19 OMIM
ClinVar
PMID:29211846 NCBI chr10:109,665,682...109,674,782
Ensembl chr10:109,665,682...109,673,143
JBrowse link
mitochondrial DNA depletion syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tk2 thymidine kinase 2 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 2
ClinVar Annotator: match by OMIM:609560
OMIM
ClinVar
PMID:1734306 PMID:11687801 PMID:12391347 PMID:12493767 PMID:12655576 PMID:12873860 PMID:15639197 PMID:15907288 PMID:16504786 PMID:16908738 PMID:19265691 PMID:21937588 PMID:22345218 PMID:23303857 PMID:23932787 PMID:23963299 PMID:24033266 PMID:24484525 PMID:25326635 PMID:25446393 PMID:25741868 PMID:26467025 PMID:26925861 PMID:28492532 PMID:28812460 NCBI chr19:917,203...939,236
Ensembl chr19:917,203...939,221
JBrowse link
mitochondrial DNA depletion syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dguok deoxyguanosine kinase ISO
IMP
ClinVar Annotator: match by term: Mitochondrial DNA-depletion syndrome 3, hepatocerebral
ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME 3
OMIM
ClinVar
PMID:9175742 PMID:11687800 PMID:11983456 PMID:12205643 PMID:12210798 PMID:15887277 PMID:16908739 PMID:17073823 PMID:17452231 PMID:22622127 PMID:23043144 PMID:25131622 PMID:25741868 PMID:26874653 PMID:28492532, PMID:30404003, PMID:31127938 RGD:15039296, RGD:15039214 NCBI chr 4:115,180,433...115,208,061
Ensembl chr 4:115,180,433...115,208,061
JBrowse link
G Mpv17 mitochondrial inner membrane protein MPV17 ISS OMIM:251880 MouseDO NCBI chr 6:26,585,713...26,600,265
Ensembl chr 6:26,587,443...26,599,511
JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Mitochondrial DNA-depletion syndrome 3, hepatocerebral ClinVar PMID:17722119 NCBI chr 1:264,756,060...264,762,892
Ensembl chr 1:264,756,499...264,762,892
JBrowse link
mitochondrial DNA depletion syndrome 4B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: MNGIE, POLG-RELATED ClinVar PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:23524600 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28492532 NCBI chr 1:141,116,565...141,172,997
Ensembl chr 1:141,120,166...141,172,483
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: MNGIE, POLG-RELATED
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4B, MNGIE type
ClinVar Annotator: match by OMIM:613662
OMIM
ClinVar
PMID:632821 PMID:11431686 PMID:11571332 PMID:12210792 PMID:12297582 PMID:12565911 PMID:12707443 PMID:12825077 PMID:12872260 PMID:12975295 PMID:14557557 PMID:14635118 PMID:14694057 PMID:15122711 PMID:15181170 PMID:15349879 PMID:15351195 PMID:15477547 PMID:15689359 PMID:15824347 PMID:15917273 PMID:15929042 PMID:16024923 PMID:16130100 PMID:16177225 PMID:16368709 PMID:16401742 PMID:16545482 PMID:16621917 PMID:16634032 PMID:16638794 PMID:16639411 PMID:16940310 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17452231 PMID:17846414 PMID:17950645 PMID:17980715 PMID:18195151 PMID:18414213 PMID:18487244 PMID:18500570 PMID:18546343 PMID:18546365 PMID:18585914 PMID:18783964 PMID:18828154 PMID:18991199 PMID:19010300 PMID:19103152 PMID:19189930 PMID:19251978 PMID:19307547 PMID:19478085 PMID:19501198 PMID:19538466 PMID:19566497 PMID:19578034 PMID:19752458 PMID:19766516 PMID:19813183 PMID:19815814 PMID:19862739 PMID:20138553 PMID:20142534 PMID:20227526 PMID:20301791 PMID:20385918 PMID:20434700 PMID:20513108 PMID:20576279 PMID:20691285 PMID:20803511 PMID:20818383 PMID:20837861 PMID:20837862 PMID:20843780 PMID:20883824 PMID:21038416 PMID:21138766 PMID:21228000 PMID:21228398 PMID:21235791 PMID:21259344 PMID:21276947 PMID:21282586 PMID:21301859 PMID:21357833 PMID:21515089 PMID:21647632 PMID:21654874 PMID:21670405 PMID:21686371 PMID:21824913 PMID:21856450 PMID:21880868 PMID:21956653 PMID:21993618 PMID:22000311 PMID:22006280 PMID:22114710 PMID:22189570 PMID:22277967 PMID:22342071 PMID:22357363 PMID:22494076 PMID:22616202 PMID:22647225 PMID:22711370 PMID:22727047 PMID:22863191 PMID:22931735 PMID:22987704 PMID:22995991 PMID:23084792 PMID:23212759 PMID:23250882 PMID:23251356 PMID:23299917 PMID:23324391 PMID:23426270 PMID:23430834 PMID:23446635 PMID:23446645 PMID:23448099 PMID:23524600 PMID:23665194 PMID:23783014 PMID:23804100 PMID:23808377 PMID:23811324 PMID:23921535 PMID:24033266 PMID:24122062 PMID:24259288 PMID:24272679 PMID:24331360 PMID:24508722 PMID:24642831 PMID:24725338 PMID:25118206 PMID:25203713 PMID:25281868 PMID:25286830 PMID:25326637 PMID:25356970 PMID:25462018 PMID:25585994 PMID:25660390 PMID:25741868 PMID:25914719 PMID:25940035 PMID:26095671 PMID:26104464 PMID:26337858 PMID:26357557 PMID:26467025 PMID:26468652 PMID:26557169 PMID:26735972 PMID:26942291 PMID:26942292 PMID:27016405 PMID:27119776 PMID:27185166 PMID:27271921 PMID:27450679 PMID:27538604 PMID:27987238 PMID:28128857 PMID:28130605 PMID:28154168 PMID:28284481 PMID:28337550 PMID:28492532 PMID:28771251 PMID:28776642 PMID:28812649 PMID:29029963 PMID:29341116 PMID:29474836 PMID:29482223 PMID:29588995 PMID:30255931 PMID:30290626 PMID:30311386 PMID:30373890 PMID:30843307 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
JBrowse link
mitochondrial DNA depletion syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sucla2 succinate-CoA ligase ADP-forming subunit beta ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)
ClinVar Annotator: match by OMIM:612073
OMIM
ClinVar
PMID:17287286 PMID:17301081 PMID:20843780 PMID:23759946 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr15:55,461,695...55,516,954
Ensembl chr15:55,461,695...55,516,952
JBrowse link
mitochondrial DNA depletion syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpv17 mitochondrial inner membrane protein MPV17 ISO ClinVar Annotator: match by term: Navajo neurohepatopathy
ClinVar Annotator: match by term: MPV17-related mitochondrial DNA maintenance defect
ClinVar Annotator: match by OMIM:256810
OMIM
ClinVar
PMID:16582910 PMID:16909392 PMID:17694548 PMID:18261905 PMID:18695062 PMID:19012992 PMID:19520594 PMID:20074988 PMID:22508010 PMID:23714749 PMID:23829229 PMID:24190800 PMID:25016221 PMID:25129007 PMID:25741868 PMID:25861990 PMID:26467025 PMID:26741492 PMID:27536553 PMID:28207748 PMID:28209105 PMID:28492532 PMID:29282788 PMID:30298599 PMID:30833296 PMID:31319225 NCBI chr 6:26,585,713...26,600,265
Ensembl chr 6:26,587,443...26,599,511
JBrowse link
mitochondrial DNA depletion syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: mitochondrial hepatopathy ClinVar PMID:25741868 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: OPHTHALMOPLEGIA, HYPOTONIA, ATAXIA, HYPOACUSIS, AND ATHETOSIS
ClinVar Annotator: match by term: Spinocerebellar ataxia infantile with sensory neuropathy
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)
ClinVar Annotator: match by OMIM:271245
OMIM
ClinVar
PMID:16135556 PMID:17614277 PMID:17722119 PMID:17921179 PMID:20479361 PMID:20659899 PMID:21689831 PMID:22353293 PMID:22928142 PMID:24018892 PMID:25355836 PMID:25741868 PMID:26206283 PMID:26467025 PMID:27551684 PMID:28492532 PMID:29458409 NCBI chr 1:264,756,060...264,762,892
Ensembl chr 1:264,756,499...264,762,892
JBrowse link
mitochondrial DNA depletion syndrome 8A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION ClinVar PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:23524600 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28492532 NCBI chr 1:141,116,565...141,172,997
Ensembl chr 1:141,120,166...141,172,483
JBrowse link
G Ncaph2 non-SMC condensin II complex, subunit H2 ISO ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION ClinVar PMID:23643385 PMID:25741868 PMID:28492532 NCBI chr 7:130,326,597...130,343,655
Ensembl chr 7:130,326,600...130,342,493
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION ClinVar PMID:632821 PMID:11431686 PMID:11571332 PMID:12210792 PMID:12297582 PMID:12565911 PMID:12707443 PMID:12825077 PMID:12872260 PMID:14635118 PMID:14694057 PMID:15122711 PMID:15181170 PMID:15349879 PMID:15351195 PMID:15477547 PMID:15689359 PMID:15824347 PMID:15917273 PMID:15929042 PMID:16024923 PMID:16130100 PMID:16177225 PMID:16368709 PMID:16401742 PMID:16621917 PMID:16638794 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17846414 PMID:17950645 PMID:17980715 PMID:18414213 PMID:18487244 PMID:18500570 PMID:18546343 PMID:18546365 PMID:18783964 PMID:18828154 PMID:18991199 PMID:19010300 PMID:19103152 PMID:19189930 PMID:19251978 PMID:19307547 PMID:19478085 PMID:19501198 PMID:19538466 PMID:19578034 PMID:19752458 PMID:19766516 PMID:19813183 PMID:19862739 PMID:20138553 PMID:20142534 PMID:20301791 PMID:20385918 PMID:20434700 PMID:20513108 PMID:20576279 PMID:20691285 PMID:20818383 PMID:20837861 PMID:21038416 PMID:21138766 PMID:21228000 PMID:21228398 PMID:21235791 PMID:21259344 PMID:21276947 PMID:21357833 PMID:21515089 PMID:21647632 PMID:21654874 PMID:21670405 PMID:21686371 PMID:21880868 PMID:21993618 PMID:22006280 PMID:22189570 PMID:22342071 PMID:22494076 PMID:22616202 PMID:22647225 PMID:22711370 PMID:22863191 PMID:22931735 PMID:22995991 PMID:23084792 PMID:23212759 PMID:23250882 PMID:23251356 PMID:23299917 PMID:23324391 PMID:23426270 PMID:23430834 PMID:23448099 PMID:23524600 PMID:23665194 PMID:23783014 PMID:23804100 PMID:23811324 PMID:24033266 PMID:24122062 PMID:24259288 PMID:24272679 PMID:24331360 PMID:24508722 PMID:24725338 PMID:25118206 PMID:25286830 PMID:25462018 PMID:25585994 PMID:25660390 PMID:25741868 PMID:25940035 PMID:26104464 PMID:26337858 PMID:26467025 PMID:26468652 PMID:26735972 PMID:26942291 PMID:26942292 PMID:27119776 PMID:27538604 PMID:27987238 PMID:28130605 PMID:28154168 PMID:28284481 PMID:28337550 PMID:28492532 PMID:28771251 PMID:28776642 PMID:28812649 PMID:29029963 PMID:29341116 PMID:29474836 PMID:29482223 PMID:29588995 PMID:30255931 PMID:30290626 PMID:30311386 PMID:30373890 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
JBrowse link
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: RRM2B-related mitochondrial disease
ClinVar Annotator: match by term: RRM2B-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Renal Tubulopathy
ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC, WITH RENAL TUBULOPATHY, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by OMIM:612075
ClinVar
OMIM
PMID:17486094 PMID:19138848 PMID:19664747 PMID:19667227 PMID:21378381 PMID:21646632 PMID:21951382 PMID:25326635 PMID:25326637 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28812649 PMID:32313153 NCBI chr 7:76,750,045...76,780,817
Ensembl chr 7:76,750,050...76,780,817
JBrowse link
G Tymp thymidine phosphorylase ISO ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION
ClinVar Annotator: match by term: Mitochondrial neurogastrointestinal encephalopathy syndrome
ClinVar PMID:2005900 PMID:10852545 PMID:12529715 PMID:19853446 PMID:23643385 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311386 NCBI chr 7:130,342,481...130,347,845
Ensembl chr 7:130,342,483...130,347,587
JBrowse link
mitochondrial DNA depletion syndrome 8b term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Oculogastrointestinal muscular dystrophy ClinVar PMID:25741868 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
JBrowse link
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8B (MNGIE type)
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:19667227 NCBI chr 7:76,750,045...76,780,817
Ensembl chr 7:76,750,050...76,780,817
JBrowse link
G Tymp thymidine phosphorylase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Oculogastrointestinal muscular dystrophy
CTD
ClinVar
PMID:10852545 PMID:12529715 PMID:16972839 PMID:19853446 PMID:22977166 PMID:24033266 PMID:25741868 PMID:30311386 NCBI chr 7:130,342,481...130,347,845
Ensembl chr 7:130,342,483...130,347,587
JBrowse link
mitochondrial DNA depletion syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Suclg1 succinate-CoA ligase GDP/ADP-forming subunit alpha ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)
ClinVar Annotator: match by OMIM:245400
OMIM
ClinVar
PMID:17287286 PMID:17668387 PMID:19526370 PMID:20453710 PMID:20693550 PMID:21639866 PMID:25326635 PMID:25741868 PMID:28492532 PMID:29217198 NCBI chr 4:101,181,315...101,210,692
Ensembl chr 4:101,180,404...101,210,746
JBrowse link
Mitochondrial DNA Depletion Syndrome, MNGIE Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION ClinVar PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:23524600 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28492532 NCBI chr 1:141,116,565...141,172,997
Ensembl chr 1:141,120,166...141,172,483
JBrowse link
G Ncaph2 non-SMC condensin II complex, subunit H2 ISO ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION ClinVar PMID:23643385 PMID:25741868 PMID:28492532 NCBI chr 7:130,326,597...130,343,655
Ensembl chr 7:130,326,600...130,342,493
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION ClinVar PMID:632821 PMID:11431686 PMID:11571332 PMID:12210792 PMID:12297582 PMID:12565911 PMID:12707443 PMID:12825077 PMID:12872260 PMID:14635118 PMID:14694057 PMID:15122711 PMID:15181170 PMID:15349879 PMID:15351195 PMID:15477547 PMID:15689359 PMID:15824347 PMID:15917273 PMID:15929042 PMID:16024923 PMID:16130100 PMID:16177225 PMID:16368709 PMID:16401742 PMID:16621917 PMID:16638794 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17846414 PMID:17950645 PMID:17980715 PMID:18414213 PMID:18487244 PMID:18500570 PMID:18546343 PMID:18546365 PMID:18783964 PMID:18828154 PMID:18991199 PMID:19010300 PMID:19103152 PMID:19189930 PMID:19251978 PMID:19307547 PMID:19478085 PMID:19501198 PMID:19538466 PMID:19578034 PMID:19752458 PMID:19766516 PMID:19813183 PMID:19862739 PMID:20138553 PMID:20142534 PMID:20301791 PMID:20385918 PMID:20434700 PMID:20513108 PMID:20576279 PMID:20691285 PMID:20818383 PMID:20837861 PMID:21038416 PMID:21138766 PMID:21228000 PMID:21228398 PMID:21235791 PMID:21259344 PMID:21276947 PMID:21357833 PMID:21515089 PMID:21647632 PMID:21654874 PMID:21670405 PMID:21686371 PMID:21880868 PMID:21993618 PMID:22006280 PMID:22189570 PMID:22342071 PMID:22494076 PMID:22616202 PMID:22647225 PMID:22711370 PMID:22863191 PMID:22931735 PMID:22995991 PMID:23084792 PMID:23212759 PMID:23250882 PMID:23251356 PMID:23299917 PMID:23324391 PMID:23426270 PMID:23430834 PMID:23448099 PMID:23524600 PMID:23665194 PMID:23783014 PMID:23804100 PMID:23811324 PMID:24033266 PMID:24122062 PMID:24259288 PMID:24272679 PMID:24331360 PMID:24508722 PMID:24725338 PMID:25118206 PMID:25286830 PMID:25462018 PMID:25585994 PMID:25660390 PMID:25741868 PMID:25940035 PMID:26104464 PMID:26337858 PMID:26467025 PMID:26468652 PMID:26735972 PMID:26942291 PMID:26942292 PMID:27119776 PMID:27538604 PMID:27987238 PMID:28130605 PMID:28154168 PMID:28284481 PMID:28337550 PMID:28492532 PMID:28771251 PMID:28776642 PMID:28812649 PMID:29029963 PMID:29341116 PMID:29474836 PMID:29482223 PMID:29588995 PMID:30255931 PMID:30290626 PMID:30311386 PMID:30373890 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
JBrowse link
G Tymp thymidine phosphorylase ISO ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION
ClinVar Annotator: match by term: MNGIE syndrome
ClinVar PMID:2005900 PMID:10852545 PMID:12529715 PMID:19853446 PMID:23643385 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311386 NCBI chr 7:130,342,481...130,347,845
Ensembl chr 7:130,342,483...130,347,587
JBrowse link
Sengers syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agk acylglycerol kinase ISO ClinVar Annotator: match by term: Sengers syndrome
ClinVar Annotator: match by term: Cataract and cardiomyopathy
ClinVar Annotator: match by OMIM:212350
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:3560758 PMID:15168109 PMID:22277967 PMID:22284826 PMID:22415731 PMID:23266196 PMID:24088041 PMID:25326635 PMID:25741868 PMID:26582918 PMID:26633545 PMID:28492532 NCBI chr 4:68,483,345...68,561,518
Ensembl chr 4:68,483,320...68,560,801
JBrowse link
G Dennd11 DENN domain containing 11 ISO ClinVar Annotator: match by term: Cataract and cardiomyopathy ClinVar PMID:22277967 PMID:22284826 PMID:28492532 NCBI chr 4:68,569,308...68,597,626
Ensembl chr 4:68,569,691...68,597,586
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23266196 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    Nutritional and Metabolic Diseases 4739
      disease of metabolism 4739
        mitochondrial metabolism disease 348
          mitochondrial DNA depletion syndrome 29
            Alpers-Huttenlocher syndrome + 5
            Mitochondrial DNA Depletion Syndrome 16 2
            Mitochondrial DNA Depletion Syndrome 17 1
            Mitochondrial DNA Depletion Syndrome 18 1
            Mitochondrial DNA Depletion Syndrome 19 1
            Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form, Autosomal Recessive + 2
            Mitochondrial DNA Depletion Syndrome, MNGIE Type + 5
            Mitochondrial DNA Depletion Syndrome, Myopathic Form + 1
            Sengers syndrome 3
            mitochondrial DNA depletion syndrome 11 1
            mitochondrial DNA depletion syndrome 12a 3
            mitochondrial DNA depletion syndrome 12b 1
            mitochondrial DNA depletion syndrome 13 1
            mitochondrial DNA depletion syndrome 14 1
            mitochondrial DNA depletion syndrome 15 1
            mitochondrial DNA depletion syndrome 2 1
            mitochondrial DNA depletion syndrome 3 3
            mitochondrial DNA depletion syndrome 5 1
            mitochondrial DNA depletion syndrome 6 1
            mitochondrial DNA depletion syndrome 8b 3
            mitochondrial DNA depletion syndrome 9 1
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          inherited metabolic disorder 2255
            mitochondrial metabolism disease 348
              mitochondrial DNA depletion syndrome 29
                Alpers-Huttenlocher syndrome + 5
                Mitochondrial DNA Depletion Syndrome 16 2
                Mitochondrial DNA Depletion Syndrome 17 1
                Mitochondrial DNA Depletion Syndrome 18 1
                Mitochondrial DNA Depletion Syndrome 19 1
                Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form, Autosomal Recessive + 2
                Mitochondrial DNA Depletion Syndrome, MNGIE Type + 5
                Mitochondrial DNA Depletion Syndrome, Myopathic Form + 1
                Sengers syndrome 3
                mitochondrial DNA depletion syndrome 11 1
                mitochondrial DNA depletion syndrome 12a 3
                mitochondrial DNA depletion syndrome 12b 1
                mitochondrial DNA depletion syndrome 13 1
                mitochondrial DNA depletion syndrome 14 1
                mitochondrial DNA depletion syndrome 15 1
                mitochondrial DNA depletion syndrome 2 1
                mitochondrial DNA depletion syndrome 3 3
                mitochondrial DNA depletion syndrome 5 1
                mitochondrial DNA depletion syndrome 6 1
                mitochondrial DNA depletion syndrome 8b 3
                mitochondrial DNA depletion syndrome 9 1
paths to the root