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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, MNGIE Type
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Accession:DOID:9001263 term browser browse the term
Synonyms:exact_synonym: MEPOP;   MNGIE;   MNGIE phenotype;   MNGIE syndrome;   POLIP;   POLIP syndrome;   mitochondrial neurogastrointestinal encephalopathy;   myoneurogastrointestinal encephalopathy syndrome;   polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction
For additional species annotation, visit the Alliance of Genome Resources.


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Mitochondrial DNA Depletion Syndrome, MNGIE Type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCI FA complementation group I IAGP 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 chr15:89,243,973...89,317,259
Ensembl chr15:89,243,945...89,317,261
Ensembl chr15:89,243,945...89,317,261
JBrowse link
G NCAPH2 non-SMC condensin II complex subunit H2 IAGP ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION ClinVar PMID:23643385, PMID:25741868, PMID:28492532 NCBI chr22:50,508,218...50,524,780
Ensembl chr22:50,508,224...50,524,780
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION
ClinVar Annotator: match by term: MNGIE syndrome
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 chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
JBrowse link
G SCO2 synthesis of cytochrome C oxidase 2 IAGP 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:23643385, PMID:24033266, PMID:25741868, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr22:50,523,568...50,526,442
Ensembl chr22:50,523,568...50,526,461
JBrowse link
G TYMP thymidine phosphorylase IAGP 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:23643385, PMID:24033266, PMID:25741868, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr22:50,525,752...50,530,085
Ensembl chr22:50,525,752...50,530,032
JBrowse link
mitochondrial DNA depletion syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCI FA complementation group I IAGP 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 chr15:89,243,973...89,317,259
Ensembl chr15:89,243,945...89,317,261
Ensembl chr15:89,243,945...89,317,261
JBrowse link
G MT-TK mitochondrially encoded tRNA-Lys (AAA/G) IAGP ClinVar Annotator: match by term: MNGIE, TYMP-RELATED ClinVar PMID:9380435 NCBI chr MT:8,295...8,364
Ensembl chr MT:8,295...8,364
JBrowse link
G NCAPH2 non-SMC condensin II complex subunit H2 IAGP ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 (MNGIE type) ClinVar PMID:23643385, PMID:25741868, PMID:28492532 NCBI chr22:50,508,218...50,524,780
Ensembl chr22:50,508,224...50,524,780
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP
EXP
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 chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
JBrowse link
G SCO2 synthesis of cytochrome C oxidase 2 IAGP ClinVar Annotator: match by term: MNGIE, TYMP-RELATED
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 (MNGIE type)
ClinVar PMID:2005900, PMID:9924029, PMID:10852545, PMID:12177387, PMID:12529715, PMID:14720311, PMID:15781193, PMID:16198108, PMID:17437622, PMID:19056268, PMID:19748572, PMID:21933806, PMID:23643385, PMID:24033266, PMID:25741868, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr22:50,523,568...50,526,442
Ensembl chr22:50,523,568...50,526,461
JBrowse link
G TYMP thymidine phosphorylase IAGP ClinVar Annotator: match by term: MNGIE, TYMP-RELATED
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 (MNGIE type)
ClinVar
OMIM
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: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 chr22:50,525,752...50,530,085
Ensembl chr22:50,525,752...50,530,032
JBrowse link
mitochondrial DNA depletion syndrome 4B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCI FA complementation group I IAGP 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 chr15:89,243,973...89,317,259
Ensembl chr15:89,243,945...89,317,261
Ensembl chr15:89,243,945...89,317,261
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4B, MNGIE type
ClinVar Annotator: match by term: MNGIE, POLG-RELATED
ClinVar
OMIM
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: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 chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
JBrowse link
mitochondrial DNA depletion syndrome 8A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCI FA complementation group I IAGP 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 chr15:89,243,973...89,317,259
Ensembl chr15:89,243,945...89,317,261
Ensembl chr15:89,243,945...89,317,261
JBrowse link
G MT-TW mitochondrially encoded tRNA-Trp (UGA/G) IAGP ClinVar Annotator: match by term: Neurogastrointestinal syndrome, mitochondrial ClinVar PMID:15054399 NCBI chr MT:5,512...5,579
Ensembl chr MT:5,512...5,579
JBrowse link
G NCAPH2 non-SMC condensin II complex subunit H2 IAGP ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION ClinVar PMID:23643385, PMID:25741868, PMID:28492532 NCBI chr22:50,508,218...50,524,780
Ensembl chr22:50,508,224...50,524,780
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION
ClinVar Annotator: match by term: Thymidine phosphorylase deficiency
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 chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B IAGP 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 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY)
ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION
ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC, WITH RENAL TUBULOPATHY, AUTOSOMAL RECESSIVE
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 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961
Ensembl chr 8:102,204,502...102,238,961
JBrowse link
G SCO2 synthesis of cytochrome C oxidase 2 IAGP ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION
ClinVar Annotator: match by term: Mitochondrial neurogastrointestinal encephalopathy syndrome
ClinVar Annotator: match by term: RRM2B-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Renal Tubulopathy
ClinVar PMID:2005900, PMID:10852545, PMID:12529715, PMID:23643385, PMID:24033266, PMID:25741868, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr22:50,523,568...50,526,442
Ensembl chr22:50,523,568...50,526,461
JBrowse link
G TYMP thymidine phosphorylase IAGP 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:23643385, PMID:24033266, PMID:25741868, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr22:50,525,752...50,530,085
Ensembl chr22:50,525,752...50,530,032
JBrowse link
mitochondrial DNA depletion syndrome 8b term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POLG DNA polymerase gamma, catalytic subunit IAGP ClinVar Annotator: match by term: Oculogastrointestinal muscular dystrophy ClinVar PMID:25741868 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B IAGP
EXP
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8B (MNGIE type)
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:19667227 NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961
Ensembl chr 8:102,204,502...102,238,961
JBrowse link
G SCO2 synthesis of cytochrome C oxidase 2 IAGP ClinVar Annotator: match by term: Oculogastrointestinal muscular dystrophy ClinVar PMID:10852545, PMID:12529715, PMID:24033266, PMID:30311386 NCBI chr22:50,523,568...50,526,442
Ensembl chr22:50,523,568...50,526,461
JBrowse link
G TYMP thymidine phosphorylase EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Oculogastrointestinal muscular dystrophy
CTD
ClinVar
PMID:10852545, PMID:12529715, PMID:16972839, PMID:22977166, PMID:24033266, PMID:30311386 NCBI chr22:50,525,752...50,530,085
Ensembl chr22:50,525,752...50,530,032
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17774
    Nutritional and Metabolic Diseases 4966
      disease of metabolism 4966
        mitochondrial metabolism disease 379
          mitochondrial DNA depletion syndrome 33
            Mitochondrial DNA Depletion Syndrome, MNGIE Type 8
              mitochondrial DNA depletion syndrome 1 6
              mitochondrial DNA depletion syndrome 4B 2
              mitochondrial DNA depletion syndrome 8A 7
              mitochondrial DNA depletion syndrome 8b 4
Path 2
Term Annotations click to browse term
  disease 17774
    Developmental Diseases 11300
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9461
        genetic disease 8930
          inherited metabolic disorder 2333
            mitochondrial metabolism disease 379
              mitochondrial DNA depletion syndrome 33
                Mitochondrial DNA Depletion Syndrome, MNGIE Type 8
                  mitochondrial DNA depletion syndrome 1 6
                  mitochondrial DNA depletion syndrome 4B 2
                  mitochondrial DNA depletion syndrome 8A 7
                  mitochondrial DNA depletion syndrome 8b 4
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.