ONTOLOGY REPORT - ANNOTATIONS
Term: mitochondrial encephalomyopathy
Accession: DOID:890
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Definition: A heterogenous group of disorders characterized by alterations of mitochondrial metabolism that result in muscle and nervous system dysfunction. These are often multisystemic and vary considerably in age at onset (usually in the first or second decade of life), distribution of affected muscles, severity, and course. (From Adams et al., Principles of Neurology, 6th ed, pp984-5)
Synonyms: exact_synonym: mitochondrial encephalomyopathies
narrow_synonym: ENCEPHALOCARDIOMYOPATHY, MITOCHONDRIAL
primary_id: MESH:D017237 ; RDO:0003323
For additional species annotation, visit the
Alliance of Genome Resources .
G
Coq7
coenzyme Q7, hydroxylase
1
188,176,060
188,190,874
RGD:10402107
G
Dnm1l
dynamin 1-like
11
88,830,968
88,882,271
RGD:11554173
G
Fars2
phenylalanyl-tRNA synthetase 2, mitochondrial
17
29,006,981
29,438,906
RGD:8554872
G
Fbxl4
F-box and leucine-rich repeat protein 4
5
36,555,061
36,628,920
RGD:8554872
G
Foxred1
FAD-dependent oxidoreductase domain containing 1
8
36,401,317
36,410,589
RGD:11554173
G
Mff
mitochondrial fission factor
9
88,490,280
88,518,517
RGD:8554872
G
Mt-cyb
mitochondrially encoded cytochrome b
MT
14,136
15,278
RGD:8554872
G
Ndufs2
NADH:ubiquinone oxidoreductase core subunit S2
13
89,606,848
89,623,506
RGD:11554173
G
Ndufv2
NADH:ubiquinone oxidoreductase core subunit V2
9
113,875,718
113,900,169
RGD:11554173
G
Polg
DNA polymerase gamma, catalytic subunit
1
141,172,117
141,188,893
RGD:8694177
G
RGD1563482
similar to hypothetical protein FLJ38663
12
37,680,152
37,682,994
RGD:11554173
G
Tmem70
transmembrane protein 70
5
2,019,852
2,037,038
RGD:11554173
G
Tymp
thymidine phosphorylase
7
130,342,481
130,347,845
RGD:1601000
G
Aifm1
apoptosis inducing factor, mitochondria associated 1
X
135,304,063
135,343,062
RGD:7240710 RGD:8554872
G
Rab33a
RAB33A, member RAS oncogene family
X
135,348,799
135,360,204
RGD:8554872
G
RGD1563482
similar to hypothetical protein FLJ38663
12
37,680,152
37,682,994
RGD:7240710 RGD:8554872
G
Ncaph2
non-SMC condensin II complex, subunit H2
7
130,326,597
130,343,655
RGD:8554872
G
Coa5
cytochrome C oxidase assembly factor 5
9
44,011,471
44,024,876
RGD:11554173
G
Coa6
cytochrome c oxidase assembly factor 6
19
59,327,328
59,333,706
RGD:11554173
G
Cox15
cytochrome c oxidase assembly homolog COX15
1
263,494,850
263,511,510
RGD:11554173
G
Cox15
cytochrome c oxidase assembly homolog COX15
1
263,494,850
263,511,510
RGD:8554872 RGD:7240710
G
Coa5
cytochrome C oxidase assembly factor 5
9
44,011,471
44,024,876
RGD:8554872 RGD:7240710
G
Coa6
cytochrome c oxidase assembly factor 6
19
59,327,328
59,333,706
RGD:8554872 RGD:7240710
G
Lias
lipoic acid synthetase
14
44,507,217
44,524,287
RGD:7240710 RGD:8554872
G
Rpl9
ribosomal protein L9
14
44,524,419
44,527,613
RGD:8554872
G
Ugdh
UDP-glucose 6-dehydrogenase
14
44,479,614
44,502,845
RGD:8554872
G
Il1a
interleukin 1 alpha
3
121,824,712
121,836,122
RGD:11554173
G
Il1b
interleukin 1 beta
3
121,876,256
121,882,637
RGD:11554173
G
Mt-atp6
mitochondrially encoded ATP synthase 6
MT
7,919
8,599
RGD:8554872
G
Mt-co1
mitochondrially encoded cytochrome c oxidase I
MT
5,323
6,867
RGD:11554173 RGD:8554872
G
Mt-co2
mitochondrially encoded cytochrome c oxidase II
MT
7,006
7,689
RGD:11554173
G
Mt-co3
mitochondrially encoded cytochrome c oxidase III
MT
8,599
9,382
RGD:5491184 RGD:11554173
G
Mt-cyb
mitochondrially encoded cytochrome b
MT
14,136
15,278
RGD:11554173
G
Mt-nd1
mitochondrially encoded NADH dehydrogenase 1
MT
2,740
3,694
RGD:5490235 RGD:8554872 RGD:11554173
G
Mt-nd4
mitochondrially encoded NADH dehydrogenase 4
MT
10,160
11,537
RGD:8554872
G
Mt-nd5
mitochondrially encoded NADH dehydrogenase 5
MT
11,736
13,565
RGD:5491173 RGD:8554872 RGD:11554173 RGD:5507825 RGD:5491184
G
Mt-nd6
mitochondrially encoded NADH dehydrogenase 6
MT
13,543
14,061
RGD:11554173 RGD:8554872
G
Ndufs1
NADH:ubiquinone oxidoreductase core subunit S1
9
69,919,863
69,953,182
RGD:8554872
G
Sod1
superoxide dismutase 1
11
30,363,282
30,368,858
RGD:11554173
G
Sod2
superoxide dismutase 2
1
47,914,757
47,921,587
RGD:11554173
G
Il1a
interleukin 1 alpha
3
121,824,712
121,836,122
RGD:11554173
G
Il1b
interleukin 1 beta
3
121,876,256
121,882,637
RGD:11554173
G
Mt-nd5
mitochondrially encoded NADH dehydrogenase 5
MT
11,736
13,565
RGD:8554872
G
Tmem70
transmembrane protein 70
5
2,019,852
2,037,038
RGD:7240710 RGD:8554872
G
Fbxl4
F-box and leucine-rich repeat protein 4
5
36,555,061
36,628,920
RGD:7240710 RGD:8554872
G
Opa1
OPA1, mitochondrial dynamin like GTPase
11
74,717,600
74,793,902
RGD:8554872 RGD:7240710
G
Aqp4
aquaporin 4
18
6,766,009
6,782,757
RGD:5148026
G
Edar
ectodysplasin-A receptor
20
28,179,132
28,263,092
RGD:8554872
G
Fanci
FA complementation group I
1
141,116,565
141,172,997
RGD:8554872
G
Polg
DNA polymerase gamma, catalytic subunit
1
141,172,117
141,188,893
RGD:8694184 RGD:15039298 RGD:8554872 RGD:11554173 RGD:7240710 RGD:8694317 RGD:8694284
G
Ranbp2
RAN binding protein 2
20 20
28,027,054 28,365,538
28,076,664 28,375,676
RGD:8554872
G
Sucla2
succinate-CoA ligase ADP-forming subunit beta
15
55,461,695
55,516,954
RGD:7240710 RGD:8554872
G
Ncaph2
non-SMC condensin II complex, subunit H2
7
130,326,597
130,343,655
RGD:8554872
G
Polg
DNA polymerase gamma, catalytic subunit
1
141,172,117
141,188,893
RGD:8554872
G
Rrm2b
ribonucleotide reductase regulatory TP53 inducible subunit M2B
7
76,750,045
76,780,817
RGD:8554872 RGD:7240710
G
Tymp
thymidine phosphorylase
7
130,342,481
130,347,845
RGD:8554872
G
Mt-nd3
mitochondrially encoded NADH dehydrogenase 3
MT
9,451
9,798
RGD:5507824
G
Timm50
translocase of inner mitochondrial membrane 50
1
85,470,810
85,480,813
RGD:8554872
G
Dnm1l
dynamin 1-like
11
88,830,968
88,882,271
RGD:8554872
G
Pus1
pseudouridine synthase 1
12
51,936,721
51,945,930
RGD:8554872 RGD:11554173
G
Yars2
tyrosyl-tRNA synthetase 2
11
88,882,615
88,888,377
RGD:8554872 RGD:11554173
G
Pus1
pseudouridine synthase 1
12
51,936,721
51,945,930
RGD:7240710 RGD:8554872
G
Yars2
tyrosyl-tRNA synthetase 2
11
88,882,615
88,888,377
RGD:7240710 RGD:8554872
G
Mt-atp6
mitochondrially encoded ATP synthase 6
MT
7,919
8,599
RGD:8554872
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