MCID: MTC005
MIFTS: 33

Mitochondrial Metabolism Disease

Categories: Metabolic diseases

Aliases & Classifications for Mitochondrial Metabolism Disease

MalaCards integrated aliases for Mitochondrial Metabolism Disease:

Name: Mitochondrial Metabolism Disease 12 14
Mitochondrial Diseases 41 69
Abnormality of Mitochondrial Metabolism 28

Classifications:



External Ids:

Disease Ontology 12 DOID:700
MeSH 41 D028361
SNOMED-CT 64 240096000
UMLS 69 C0751651

Summaries for Mitochondrial Metabolism Disease

Disease Ontology : 12 An inherited metabolic disorder that involves mitochondrial metabolism dysfunction.

MalaCards based summary : Mitochondrial Metabolism Disease, also known as mitochondrial diseases, is related to chronic progressive external ophthalmoplegia and mitochondrial disorders. An important gene associated with Mitochondrial Metabolism Disease is MT-ATP6 (Mitochondrially Encoded ATP Synthase Membrane Subunit 6), and among its related pathways/superpathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and tRNA Aminoacylation.

Related Diseases for Mitochondrial Metabolism Disease

Diseases related to Mitochondrial Metabolism Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 46)
# Related Disease Score Top Affiliating Genes
1 chronic progressive external ophthalmoplegia 32.8 MT-TL2 POLG SLC25A4 SPG7 TWNK
2 mitochondrial disorders 32.6 GFER GFM2 MT-ATP6 MT-CO2 MT-ND5 MT-TE
3 kearns-sayre syndrome 32.5 MT-ATP6 MT-CO2 MT-ND5 MT-TL1 POLG RRM2B
4 mitochondrial encephalomyopathy 32.5 MT-CO2 MT-ND5 MT-TL1 MT-TL2
5 leigh syndrome 32.1 GFM2 LRPPRC MT-ATP6 MT-CO2 MT-ND5 MT-TL1
6 hsd10 mitochondrial disease 12.0
7 rrm2b-related mitochondrial disease 11.9
8 mitochondrial disease with severe hypotonia, lactic acidaemia and hyperammonemia 11.8
9 combined oxidative phosphorylation deficiency 3 11.4
10 ataxia and polyneuropathy, adult-onset 11.0
11 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 11.0
12 hypotonia-cystinuria syndrome 10.9
13 mitochondrial complex i deficiency 10.8
14 mitochondrial complex ii deficiency 10.8
15 mohr-tranebjaerg syndrome 10.8
16 pearson marrow-pancreas syndrome 10.8
17 encephalopathy, ethylmalonic 10.8
18 mitochondrial complex v deficiency, nuclear type 1 10.8
19 mitochondrial complex v deficiency, nuclear type 2 10.8
20 mitochondrial complex v deficiency, nuclear type 3 10.8
21 mitochondrial complex iii deficiency, nuclear type 2 10.8
22 mitochondrial complex v deficiency, nuclear type 4 10.8
23 fatal infantile encephalocardiomyopathy 10.8
24 coenzyme q10 deficiency disease 10.8
25 hypertrophic olivary degeneration 10.7 POLG SURF1
26 maternally-inherited progressive external ophthalmoplegia 10.7 MT-TL1 MT-TL2
27 mitochondrial dna-associated leigh syndrome and narp 10.7 MT-ATP6 MT-ND5 MT-TL1 MT-TL2
28 ocular motility disease 10.7 POLG SLC25A4 TWNK
29 diabetes and deafness, maternally inherited 10.7 MT-TE MT-TL1
30 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 10.7 MT-ATP6 MT-CO2 MT-ND5 MT-TL1 POLG
31 myoclonic epilepsy associated with ragged-red fibers 10.7 MT-ND5 MT-TL1 TWNK
32 autosomal dominant progressive external ophthalmoplegia 10.7 OPA1 POLG RRM2B SLC25A4 TWNK
33 lactic acidosis 10.7 MT-ATP6 MT-ND5 POLG RMND1 YARS2
34 mitochondrial neurogastrointestinal encephalomyopathy 10.7 POLG RRM2B
35 leber optic atrophy 10.7 MT-ATP6 MT-ND5
36 axonal neuropathy 10.7 POLG SLC25A4 TWNK
37 mitochondrial complex iv deficiency 10.6 LRPPRC MT-CO2 MT-TL1 SURF1
38 leber hereditary optic neuropathy 10.6 MT-ATP6 MT-ND5 OPA1 YARS2
39 myopathy, lactic acidosis, and sideroblastic anemia 10.6 MT-ATP6 YARS2
40 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 10.6 POLG TWNK
41 mitochondrial dna depletion syndrome 7 10.6 SLC25A4 TWNK
42 myopathy 10.5 GFER MT-ATP6 MT-CO2 MT-ND5 POLG SLC25A4
43 mitochondrial myopathy 10.5 GFER MT-ATP6 MT-CO2 MT-ND5 MT-TL1 MT-TL2
44 mitochondrial dna depletion syndrome 4a 10.5 POLG TWNK
45 diphyllobothriasis 10.5 MT-ND5 MT-TL1
46 diabetic polyneuropathy 10.3 POLG TWNK

Graphical network of the top 20 diseases related to Mitochondrial Metabolism Disease:



Diseases related to Mitochondrial Metabolism Disease

Symptoms & Phenotypes for Mitochondrial Metabolism Disease

Drugs & Therapeutics for Mitochondrial Metabolism Disease

Search Clinical Trials , NIH Clinical Center for Mitochondrial Metabolism Disease

Cochrane evidence based reviews: mitochondrial diseases

Genetic Tests for Mitochondrial Metabolism Disease

Genetic tests related to Mitochondrial Metabolism Disease:

# Genetic test Affiliating Genes
1 Abnormality of Mitochondrial Metabolism 28

Anatomical Context for Mitochondrial Metabolism Disease

Publications for Mitochondrial Metabolism Disease

Articles related to Mitochondrial Metabolism Disease:

(show top 50) (show all 132)
# Title Authors Year
1
A novel MTTT mutation m.15933G?>?A revealed in analysis of mitochondrial DNA in patients with suspected mitochondrial disease. ( 28187756 )
2017
2
Focal segmental glomerulosclerosis associated with mitochondrial disease. ( 29043143 )
2017
3
AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant. ( 28299359 )
2017
4
Anesthetic Management of Two Pediatric Patients With Concurrent Diagnoses of Mitochondrial Disease and Malignant Hyperthermia Susceptibility: A Case Report. ( 28604462 )
2017
5
Neurohormonal modulation for treatment of cardiac involvement in dystrophinopathies and mitochondrial disease. ( 28805065 )
2017
6
Neurohormonal modulation for treatment of cardiac involvement in dystrophinopathies and mitochondrial disease. ( 28914548 )
2017
7
Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene. ( 28185376 )
2017
8
Leber Hereditary Optic Neuropathy: A Mitochondrial Disease Unique in Many Ways. ( 27787713 )
2016
9
Mitochondrial Diseases: Shortcuts to Therapies and Therapeutic Shortcuts. ( 27716487 )
2016
10
A case of cerebrotendinous xanthomatosis mimicking the clinical phenotype of mitochondrial disease with a novel frame-shift mutation (c. 43_44 delGG) in CYP27A1 gene exon 1. ( 27680221 )
2016
11
Elevated FGF 21 in myotonic dystrophy type 1 and mitochondrial diseases. ( 27489983 )
2016
12
A comparison of current serum biomarkers as diagnostic indicators of mitochondrial diseases. ( 27164684 )
2016
13
Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease. ( 27102849 )
2016
14
Incidence of Primary Mitochondrial Disease in Children Presenting With Acute Liver Failure Under 2 Years of Age. ( 27482763 )
2016
15
GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction. ( 26867126 )
2016
16
A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease. ( 26735972 )
2016
17
Bromodomain Inhibitors Correct Bioenergetic Deficiency Caused by Mitochondrial Disease Complex I Mutations. ( 27666594 )
2016
18
Intestinal pseudo-obstruction in mitochondrial diseases. ( 27804144 )
2016
19
Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number. ( 27693233 )
2016
20
Adrenal Insufficiency in Mitochondrial Disease: A Rare Case of GFER-Related Mitochondrial Encephalomyopathy and Review of the Literature. ( 26018198 )
2015
21
Growth hormone deficiency in a patient with mitochondrial disease. ( 25781523 )
2015
22
Investigating the role of the physiological isoform switch of cytochrome c oxidase subunits in reversible mitochondrial disease. ( 25666558 )
2015
23
Yeast model analysis of novel polymerase gamma variants found in patients with autosomal recessive mitochondrial disease. ( 26077851 )
2015
24
Treatment options for lactic acidosis and metabolic crisis in children with mitochondrial disease. ( 25687154 )
2015
25
LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population. ( 26510951 )
2015
26
SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors. ( 24781757 )
2015
27
Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease. ( 27858754 )
2015
28
Copper supplementation restores cytochrome c oxidase assembly defect in a mitochondrial disease model of COA6 deficiency. ( 24549041 )
2014
29
Neurometabolic disease: Treating mitochondrial diseases with mTOR inhibitors--a potential treatment for Leigh syndrome? ( 24296657 )
2014
30
Gene therapy for mitochondrial diseases: Leber Hereditary Optic Neuropathy as the first candidate for a clinical trial. ( 24702846 )
2014
31
Mitochondrial disease--an important cause of end-stage renal failure. ( 23233040 )
2013
32
Unique acyl-carnitine profiles are potential biomarkers for acquired mitochondrial disease in autism spectrum disorder. ( 23340503 )
2013
33
Hypertrophic Cardiomyopathy due to Mitochondrial Disease: Prenatal Diagnosis, Management, and Outcome. ( 23346437 )
2013
34
Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease. ( 23313956 )
2013
35
Incidence of carpal tunnel syndrome in adult patients with mitochondrial disease. ( 23521646 )
2013
36
Autonomic dysfunction in epilepsy and mitochondrial diseases. ( 23465772 )
2013
37
Hypertrichosis in presymptomatic mitochondrial disease. ( 23408181 )
2013
38
Biochemistry of cardiomyopathy in the mitochondrial disease Friedreich's ataxia. ( 23849057 )
2013
39
POLG mutations in Australian patients with mitochondrial disease. ( 22647225 )
2013
40
Overexpression of TNF-I+ in mitochondrial diseases caused by mutations in mtDNA: evidence for signaling through its receptors on mitochondria. ( 23619127 )
2013
41
The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation--implications for diagnosis and management. ( 23355809 )
2013
42
Fibroblast growth factor 21 is a sensitive biomarker of mitochondrial disease. ( 24142477 )
2013
43
Case study of sporadic mitochondrial disease with myotonic discharges and optic atrophy. ( 23349087 )
2013
44
Evaluation of a mitochondrial disease criteria scoring system on mitochondrial encephalomyopathy in Chinese patients. ( 23002909 )
2013
45
FGF21 in ataxia patients with spinocerebellar atrophy and mitochondrial disease. ( 23031666 )
2012
46
Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease. ( 23122588 )
2012
47
Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease. ( 22226368 )
2012
48
Peripheral neuropathy associated with mitochondrial disease in children. ( 22435634 )
2012
49
Characterization of mtDNA variation in a cohort of South African paediatric patients with mitochondrial disease. ( 22258525 )
2012
50
AMPK-mediated increase of glycolysis as an adaptive response to oxidative stress in human cells: implication of the cell survival in mitochondrial diseases. ( 22001850 )
2012

Variations for Mitochondrial Metabolism Disease

ClinVar genetic disease variations for Mitochondrial Metabolism Disease:

6 (show top 50) (show all 66)
# Gene Variation Type Significance SNP ID Assembly Location
1 MT-TL1 m.3243A> G single nucleotide variant Pathogenic rs199474657 GRCh37 Chromosome MT, 3243: 3243
2 MT-TE m.14709T> C single nucleotide variant Pathogenic rs121434453 GRCh37 Chromosome MT, 14709: 14709
3 MT-TE m.14674T> C single nucleotide variant Pathogenic rs387906421 GRCh37 Chromosome MT, 14674: 14674
4 MT-ATP6 m.8993T> G single nucleotide variant Pathogenic rs199476133 GRCh37 Chromosome MT, 8993: 8993
5 MT-ATP6 m.8993T> C single nucleotide variant Pathogenic rs199476133 GRCh37 Chromosome MT, 8993: 8993
6 MT-ATP6 m.9185T> C single nucleotide variant Pathogenic rs199476138 GRCh37 Chromosome MT, 9185: 9185
7 MT-ND5; MT-TL1 m.13513G> A single nucleotide variant Pathogenic rs267606897 GRCh37 Chromosome MT, 13513: 13513
8 POLG NM_002693.2(POLG): c.2864A> G (p.Tyr955Cys) single nucleotide variant Pathogenic rs113994099 GRCh37 Chromosome 15, 89864114: 89864114
9 POLG NM_002693.2(POLG): c.1399G> A (p.Ala467Thr) single nucleotide variant Pathogenic/Likely pathogenic rs113994095 GRCh37 Chromosome 15, 89870432: 89870432
10 POLG NM_002693.2(POLG): c.3488T> G (p.Met1163Arg) single nucleotide variant Pathogenic rs113994100 GRCh37 Chromosome 15, 89860762: 89860762
11 POLG NM_002693.2(POLG): c.3630dupC (p.Gly1211Argfs) duplication Pathogenic rs113994101 GRCh37 Chromosome 15, 89860620: 89860620
12 POLG NM_002693.2(POLG): c.695G> A (p.Arg232His) single nucleotide variant Pathogenic rs113994093 GRCh37 Chromosome 15, 89873472: 89873472
13 RRM2B NM_015713.4(RRM2B): c.950delT (p.Leu317Terfs) deletion Pathogenic rs515726199 GRCh37 Chromosome 8, 103220467: 103220467
14 OPA1 NM_015560.2(OPA1): c.1294A> G (p.Ile432Val) single nucleotide variant Pathogenic rs387906899 GRCh37 Chromosome 3, 193361398: 193361398
15 OPA1 NM_015560.2(OPA1): c.1635C> G (p.Ser545Arg) single nucleotide variant Pathogenic rs398124298 GRCh37 Chromosome 3, 193364899: 193364899
16 RMND1 NM_017909.3(RMND1): c.1250G> A (p.Arg417Gln) single nucleotide variant Pathogenic rs397515421 GRCh37 Chromosome 6, 151726922: 151726922
17 RRM2B NM_015713.4(RRM2B): c.48G> A (p.Glu16=) single nucleotide variant Pathogenic rs515726180 GRCh37 Chromosome 8, 103251055: 103251055
18 RMND1 NM_017909.3(RMND1): c.1349G> C (p.Ter450Ser) single nucleotide variant Pathogenic rs115079861 GRCh37 Chromosome 6, 151726371: 151726371
19 MT-ATP6 NC_012920.1: m.8839G> C single nucleotide variant Pathogenic rs369202065 GRCh37 Chromosome MT, 8839: 8839
20 SPG7 NM_003119.3(SPG7): c.1672A> T (p.Lys558Ter) single nucleotide variant Pathogenic rs369227537 GRCh38 Chromosome 16, 89550502: 89550502
21 TWNK NM_021830.4(TWNK): c.1075G> A (p.Ala359Thr) single nucleotide variant Pathogenic rs111033573 GRCh37 Chromosome 10, 102749042: 102749042
22 TWNK NM_021830.4(TWNK): c.1142T> C (p.Leu381Pro) single nucleotide variant Pathogenic rs111033577 GRCh37 Chromosome 10, 102749109: 102749109
23 TWNK NM_021830.4(TWNK): c.1001G> A (p.Arg334Gln) single nucleotide variant Pathogenic rs28937887 GRCh37 Chromosome 10, 102748968: 102748968
24 OPA1 NM_015560.2(OPA1): c.2708_2711delTTAG (p.Val903Glyfs) deletion Pathogenic rs80356530 GRCh37 Chromosome 3, 193384959: 193384962
25 OPA1 NM_015560.2(OPA1): c.1334G> A (p.Arg445His) single nucleotide variant Pathogenic rs80356529 GRCh37 Chromosome 3, 193361785: 193361785
26 SPG7 NM_003119.3(SPG7): c.861dupT (p.Asn288Terfs) duplication Pathogenic rs797046003 GRCh37 Chromosome 16, 89595987: 89595987
27 GFM2 NM_032380.4(GFM2): c.569G> A (p.Arg190Gln) single nucleotide variant Pathogenic/Likely pathogenic rs761283105 GRCh37 Chromosome 5, 74043556: 74043556
28 GFER NM_005262.2(GFER): c.199delC (p.Arg67Glyfs) deletion Pathogenic/Likely pathogenic rs863224028 GRCh37 Chromosome 16, 2034418: 2034418
29 RMND1 NM_017909.3(RMND1): c.1317+1G> T single nucleotide variant Pathogenic rs886037773 GRCh37 Chromosome 6, 151726854: 151726854
30 RMND1 NM_017909.3(RMND1): c.1303C> T (p.Leu435Phe) single nucleotide variant Pathogenic rs886037771 GRCh37 Chromosome 6, 151726869: 151726869
31 RMND1 NM_017909.3(RMND1): c.830+1G> A single nucleotide variant Pathogenic rs773470671 GRCh37 Chromosome 6, 151748616: 151748616
32 RMND1 NM_017909.3(RMND1): c.631G> A (p.Val211Met) single nucleotide variant Pathogenic rs771894262 GRCh37 Chromosome 6, 151754348: 151754348
33 RMND1 NM_017909.3(RMND1): c.565C> T (p.Gln189Ter) single nucleotide variant Pathogenic rs886037772 GRCh38 Chromosome 6, 151436494: 151436494
34 RMND1 NM_017909.3(RMND1): c.533C> A (p.Thr178Lys) single nucleotide variant Pathogenic rs370863743 GRCh37 Chromosome 6, 151757661: 151757661
35 TMEM126B NM_018480.5(TMEM126B): c.401delA (p.Asn134Ilefs) deletion Pathogenic rs886037835 GRCh37 Chromosome 11, 85346714: 85346714
36 TMEM126B NM_018480.5(TMEM126B): c.635G> T (p.Gly212Val) single nucleotide variant Pathogenic rs141542003 GRCh37 Chromosome 11, 85347215: 85347215
37 SLC25A4 NM_001151.3(SLC25A4): c.239G> A (p.Arg80His) single nucleotide variant Pathogenic rs886041081 GRCh38 Chromosome 4, 185144891: 185144891
38 SLC25A4 NM_001151.3(SLC25A4): c.703C> G (p.Arg235Gly) single nucleotide variant Pathogenic rs886041082 GRCh38 Chromosome 4, 185145863: 185145863
39 OPA1 NM_015560.2(OPA1): c.1198C> T (p.Pro400Ser) single nucleotide variant Pathogenic GRCh37 Chromosome 3, 193361219: 193361219
40 TWNK NM_021830.4(TWNK): c.1003C> A (p.Pro335Thr) single nucleotide variant Pathogenic/Likely pathogenic GRCh38 Chromosome 10, 100989213: 100989213
41 TWNK NM_021830.4(TWNK): c.1052A> G (p.Asn351Ser) single nucleotide variant Pathogenic rs370231886 GRCh37 Chromosome 10, 102749019: 102749019
42 TWNK NM_021830.4(TWNK): c.1121G> A (p.Arg374Gln) single nucleotide variant Pathogenic GRCh37 Chromosome 10, 102749088: 102749088
43 TWNK NM_021830.4(TWNK): c.1374G> T (p.Gln458His) single nucleotide variant Pathogenic GRCh38 Chromosome 10, 100989774: 100989774
44 TWNK NM_021830.4(TWNK): c.1391T> C (p.Leu464Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 10, 100989791: 100989791
45 YARS2 NM_001040436.2(YARS2): c.1147_1164dup (p.Glu388_Leu389insValMetSerAspGlnGlu) duplication Pathogenic rs775256289 GRCh37 Chromosome 12, 32902981: 32902998
46 YARS2 NM_001040436.2(YARS2): c.1106G> A (p.Cys369Tyr) single nucleotide variant Pathogenic GRCh37 Chromosome 12, 32903039: 32903039
47 POLG NM_002693.2(POLG): c.3550G> A (p.Asp1184Asn) single nucleotide variant Pathogenic rs1131691575 GRCh38 Chromosome 15, 89317469: 89317469
48 GFER NM_005262.2(GFER): c.586C> T (p.Arg196Cys) single nucleotide variant Pathogenic rs370475970 GRCh37 Chromosome 16, 2035997: 2035997
49 covers 11 genes, none of which curated to show dosage sensitivity NC_012920.1: m.10106_15067del4962 deletion Pathogenic GRCh37 Chromosome MT, 10106: 15067
50 MT-CYB; MT-ND4; MT-ND5; MT-ND6; MT-TE; MT-TH; MT-TL2; MT-TS2 NC_012920.1: m.11263_15374del4112 deletion Pathogenic GRCh37 Chromosome MT, 11263: 15374

Expression for Mitochondrial Metabolism Disease

Search GEO for disease gene expression data for Mitochondrial Metabolism Disease.

Pathways for Mitochondrial Metabolism Disease

GO Terms for Mitochondrial Metabolism Disease

Cellular components related to Mitochondrial Metabolism Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 9.56 ETHE1 GFM2 TWNK YARS2
2 mitochondrial inner membrane GO:0005743 9.56 MT-ATP6 MT-CO2 MT-ND5 OPA1 SLC25A4 SPG7
3 mitochondrion GO:0005739 9.53 ETHE1 GFER GFM2 LRPPRC MT-CO2 MT-ND5
4 mitochondrial nucleoid GO:0042645 9.33 LRPPRC POLG TWNK

Biological processes related to Mitochondrial Metabolism Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.73 ETHE1 GFER MT-CO2 MT-ND5 RRM2B SURF1
2 mitochondrion organization GO:0007005 9.58 OPA1 SPG7 TWNK
3 ATP biosynthetic process GO:0006754 9.46 MT-ATP6 SURF1
4 response to hyperoxia GO:0055093 9.43 MT-ATP6 POLG
5 regulation of mitochondrial membrane permeability GO:0046902 9.37 SLC25A4 SPG7
6 cellular response to glucose stimulus GO:0071333 9.33 OPA1 POLG TWNK
7 mitochondrial genome maintenance GO:0000002 9.32 OPA1 SLC25A4
8 ATP synthesis coupled electron transport GO:0042773 8.96 MT-CO2 MT-ND5
9 mitochondrial DNA replication GO:0006264 8.8 POLG RRM2B TWNK

Molecular functions related to Mitochondrial Metabolism Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.02 ETHE1 GFER MT-CO2 MT-ND5 RRM2B
2 cytochrome-c oxidase activity GO:0004129 8.96 MT-CO2 SURF1

Sources for Mitochondrial Metabolism Disease

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18 FMA
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