MCID: MTC004
MIFTS: 40

Mitochondrial Encephalomyopathy malady

Categories: Muscle diseases, Neuronal diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Mitochondrial Encephalomyopathy

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Aliases & Descriptions for Mitochondrial Encephalomyopathy:

Name: Mitochondrial Encephalomyopathy 11 13
 
Mitochondrial Encephalomyopathies 27 39 68

Classifications:



External Ids:

Disease Ontology11 DOID:890
SNOMED-CT62 447292006
MeSH39 D017237

Summaries for Mitochondrial Encephalomyopathy

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Wikipedia:71 A Mitochondrial encephalomyopathy is a form of encephalomyopathy that is associated with a mitochondrial... more...

MalaCards based summary: Mitochondrial Encephalomyopathy, also known as mitochondrial encephalomyopathies, is related to myoclonic epilepsy associated with ragged-red fibers and fastkd2-related infantile mitochondrial encephalomyopathy. An important gene associated with Mitochondrial Encephalomyopathy is FBXL4 (F-Box And Leucine Rich Repeat Protein 4), and among its related pathways are tRNA Aminoacylation and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Affiliated tissues include brain, skeletal muscle and heart.

Related Diseases for Mitochondrial Encephalomyopathy

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Diseases in the Mitochondrial Encephalomyopathy family:

Fastkd2-Related Infantile Mitochondrial Encephalomyopathy

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

(show top 50)    (show all 76)
idRelated DiseaseScoreTop Affiliating Genes
1myoclonic epilepsy associated with ragged-red fibers27.6MT-CO3, MT-ND1, MT-ND4, MT-ND5, MT-ND6, MT-TK
2fastkd2-related infantile mitochondrial encephalomyopathy11.9
3mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes11.9
4mitochondrial disorders11.9
5encephalomyopathy11.5
6combined oxidative phosphorylation deficiency 611.2
7mitochondrial dna depletion syndrome 510.9
8lactic acidosis10.6
9parkinson disease 6, early onset10.4MT-ND5, MT-ND6
10alopecia, androgenetic, 210.4MT-ND1, MT-ND6
11clubfoot10.2MT-ND4, MT-ND5, MT-ND6
12extrapulmonary tuberculosis10.2MT-CYB, MT-ND1
13restless legs syndrome10.2MT-CYB, MT-ND4
14paroxysomal nonkinesigenic dyskinesia10.2MT-ND1, MT-ND4, MT-ND6
15cerebritis10.1
16cardiomyopathy10.1
17childhood electroclinical syndrome10.1MT-ND4, MT-TK
18kearns-sayre syndrome10.1
19childhood cerebral astrocytoma10.0MT-ND5, MT-ND6, MT-TK
20cardiomyopathy, hypertrophic 610.0MT-CYB, MT-ND5
21morbid obesity and spermatogenic failure10.0MFF, MT-ND4, MT-ND6
22epilepsy10.0
23sparganosis10.0MT-ND5, MT-TL1
24metagonimiasis10.0MFF, MT-ND1
25enchondroma9.9AIFM1, MT-CO3, MT-ND5, MT-ND6
26mental retardation, obesity, mandibular prognathism, and eye and skin anomalies9.9MT-TK, MT-TL1
27myoclonus9.9
28mesp2-related spondylocostal dysostosis, autosomal recessive9.9MT-TK, MT-TL1
29mitochondrial complex i deficiency9.9MT-ND1, MT-ND4, MT-ND5, MT-ND6
30sleep apnea9.9
31hypoparathyroidism9.9
32choroiditis9.9
33pancreatitis9.9
34muscular dystrophy9.9
35aminoacidopathies9.9
36omodysplasia9.7AIFM1, FARS2
37interstitial lung disease9.7MT-ND4, MT-TK
38fumarase deficiency9.7
39retinoblastoma9.7
40cataract9.7
41cerebral hemorrhage9.7
42focal segmental glomerulosclerosis9.7
43pearson syndrome9.7
44atrioventricular block9.7
45glomerulosclerosis9.7
46sensorineural hearing loss9.7
47leukodystrophy9.7
48open-angle glaucoma9.7
49heart disease9.7
50dementia9.7

Graphical network of the top 20 diseases related to Mitochondrial Encephalomyopathy:



Diseases related to mitochondrial encephalomyopathy

Symptoms & Phenotypes for Mitochondrial Encephalomyopathy

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Drugs & Therapeutics for Mitochondrial Encephalomyopathy

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Drugs for Mitochondrial Encephalomyopathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 21)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1VaccinesPhase 46428
2Insulin, Globin ZincPhase 44523
3insulinPhase 44524
4
Cysteamineapproved, investigationalPhase 2, Phase 32760-23-16058
Synonyms:
(2-Mercaptoethyl)amine
(Mercaptoethyl)ammonium toluene-p-sulphonate
.beta.-Mercaptoethylamine
1-Amino-2-mercaptoethylamine
139720-70-0
156-57-0 (hydrochloride)
16904-32-8 (di-hydrochloride)
2-AMINO-ETHANETHIOL
2-AMINO-ethanethiol
2-Amino-1-ethanethiol
2-Aminoethanethiol
2-Aminoethyl mercaptan
2-Mercaptoethanamine
2-Mercaptoethylamine
2-Mercaptoethylamine, polymer-bound
27761-19-9 (tartrate (1:1))
2DFDA1F8-7010-4225-8280-AB1C4C43F546
30070_FLUKA
30070_SIGMA
3037-04-5
3037-04-5 (tosylate)
42954-15-4 (hydrobromide)
60-23-1
60-23-1 (Parent)
641022_ALDRICH
93965-19-6 (maleate (1:1))
A0648
AC1L1LPL
AC1Q54NL
AKOS003793343
Aminoethyl mercaptan
Becaptan
C-9500
C01678
C2H7NS
CASH
CCRIS 3083
CHEBI:17141
CHEMBL602
CID6058
CYSTEAMINE
Cisteamina
Cisteamina [Italian]
Cystavision
Cysteamide
Cysteamin
Cysteamine
Cysteamine (USAN)
Cysteamine [USAN:BAN]
Cysteamine bitartate
Cysteamine hydrochloride
Cysteaminium
Cysteinamine
D03634
DB00847
Decarboxycysteine
DivK1c_006750
 
EINECS 200-463-0
EINECS 221-235-7
Ethanethiolamine
HSDB 7353
KBio1_001694
KBio2_002235
KBio2_004803
KBio2_007371
KBioSS_002235
L 1573
L-1573
LS-65761
Lambraten
Lambratene
Lopac-M-6500
M9768_ALDRICH
M9768_SIGMA
MEA
MEA (mercaptan)
Mecramine
Mercamin
Mercamine
Mercaptamin
Mercaptamina
Mercaptamina [INN-Spanish]
Mercaptamine
Mercaptamine (INN)
Mercaptaminum
Mercaptaminum [INN-Latin]
Mercaptoethylamine
Merkamin
MolPort-001-662-635
NCGC00015691-01
NCGC00015691-04
NCGC00162236-01
NCI60_002000
NSC 647528
NSC647528
Riacon
STK315355
SpecPlus_000654
Spectrum_001755
Thioethanolamine
UNII-5UX2SD1KE2
WR 347
b-Aminoethanethiol
b-Aminoethylthiol
b-Mercaptoethylamine
beta-Aminoethanethiol
beta-Aminoethylthiol
beta-MEA
beta-Mercaptoethylamine
bmse000388
cysteamine bitartrate
nchembio.315-comp1
nchembio.316-comp1
╬▓-MEA
╬▓-aminoethylthiol
5Idebenoneapproved, investigationalPhase 22158186-27-9
6UbiquinonePhase 2139
7Trace ElementsPhase 25802
8AntioxidantsPhase 2, Early Phase 12928
9MicronutrientsPhase 25802
10Protective AgentsPhase 2, Early Phase 17190
11arginineNutraceuticalPhase 2, Early Phase 1408
12
Nitric OxideapprovedEarly Phase 159910102-43-9145068
Synonyms:
(.)NO
(NO)(.)
10102-43-9
14332-28-6
295566_ALDRICH
51005-20-0
51005-21-1
53851-19-7
90452-29-2
AC1L1ADQ
AC1L3QHF
AC1Q6QZ0
AR-1K7463
Bioxyde d'azote
Bioxyde d'azote [French]
C00533
CCRIS 4319
CHEMBL1200689
CHEMBL1234765
CID145068
CID945
D00074
D009569
DB00435
EDRF
EINECS 233-271-0
Endogenous Nitrate Vasodilator
Endothelium-Derived Nitric Oxide
HNO
HSDB 1246
INOmax
INOmax (TN)
LS-192158
LS-7547
MolPort-003-929-452
Mononitrogen monoxide
Monoxide, Mononitrogen
Monoxide, Nitrogen
Monoxido de nitrogeno
Monoxyde d'azote
NITRIC-OXIDE
NO
NO(.)
Nitrate Vasodilator, Endogenous
Nitric Oxide, Endothelium Derived
 
Nitric Oxide, Endothelium-Derived
Nitric oxide
Nitric oxide (JAN)
Nitric oxide 10% by volume or more
Nitric oxide trimer
Nitric oxide, compressed [UN1660] [Poison gas]
Nitric oxide, compressed [UN1660] [Poison gas]
Nitrogen monoxide
Nitrogen oxide
Nitrogen oxide (NO)
Nitrogen protoxide
Nitrosyl
Nitrosyl hydride
Nitrosyl hydride ((NO)H)
Nitrosyl radical
Nitroxide radical
Nitroxyl
OHM 11771
Oxide, Nitric
Oxido de nitrogeno(ii)
Oxido nitrico
Oxyde azotique
Oxyde nitrique
Oxyde nitrique [French]
RCRA waste no. P076
Stickmonoxyd
Stickmonoxyd [German]
Stickstoff(II)-oxid
Stickstoff(ii)-oxid
Stickstoffmonoxid
UN 1660
UN1660
UNII-31C4KY9ESH
Vasodilator, Endogenous Nitrate
[NO]
endothelium-derived relaxing factor
monoxido de nitrogeno
monoxyde d'azote
nitric oxide
nitrogen monooxide
nitrogen monoxide
nitrosyl
oxido de nitrogeno(II)
oxido nitrico
oxidonitrogen(.)
oxoazanyl
oxyde azotique
13Pyruvateapproved, Nutraceutical38
14Peripheral Nervous System AgentsEarly Phase 122776
15Vasodilator AgentsEarly Phase 13438
16Respiratory System AgentsEarly Phase 14818
17Neurotransmitter AgentsEarly Phase 117734
18Autonomic AgentsEarly Phase 19774
19Bronchodilator AgentsEarly Phase 12856
20Endothelium-Dependent Relaxing FactorsEarly Phase 1272
21Anti-Asthmatic AgentsEarly Phase 13369

Interventional clinical trials:

(show all 15)
idNameStatusNCT IDPhase
1Responses to Influenza Vaccine in Patients With Mitochondrial Disorders (MELAS)CompletedNCT01831934Phase 4
2Open-Label, Dose-Escalating Study to Assess Safety, Tolerability, Efficacy, PK and PD of RP103 in Children With Inherited Mitochondrial DiseaseEnrolling by invitationNCT02023866Phase 2, Phase 3
3Evaluating the Effectiveness of a Dichloroacetate in MELAS SyndromeUnknown statusNCT00068913Phase 2
4Study of Idebenone in the Treatment of Mitochondrial Encephalopathy Lactic Acidosis & Stroke-like EpisodesCompletedNCT00887562Phase 2
5L-arginine Therapy on Endothelium-dependent Vasodilation & Mitochondrial Metabolism in MELAS SyndromeCompletedNCT01603446Phase 2
6The KHENERGY StudyRecruitingNCT02909400Phase 2
7A Long-Term Extension Study of RP103-MITO-001 to Assess RP103 in Children With Inherited Mitochondrial DiseaseEnrolling by invitationNCT02473445Phase 2
8A Dose-escalating Clinical Trial With KH176CompletedNCT02544217Phase 1
9MNGIE Allogeneic Hematopoietic Stem Cell Transplant Safety StudyRecruitingNCT02427178Phase 1
10Mitochondrial nt3243 A>G Mutation in TaiwanUnknown statusNCT02114554
11Ketones & Mitochondrial HeteroplasmyCompletedNCT01252979Early Phase 1
12Nitric Oxide Production in MELAS SyndromeCompletedNCT01339494Early Phase 1
13Study of the Metabolism of Pyruvate and Related Problems in Patients With Lactic AcidemiaCompletedNCT00004353
14Natural History Study - Mitochondrial DiseaseRecruitingNCT01532791
15North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)RecruitingNCT01694940

Search NIH Clinical Center for Mitochondrial Encephalomyopathy


Cochrane evidence based reviews: mitochondrial encephalomyopathies

Genetic Tests for Mitochondrial Encephalomyopathy

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Genetic tests related to Mitochondrial Encephalomyopathy:

id Genetic test Affiliating Genes
1 Mitochondrial Encephalomyopathy27

Anatomical Context for Mitochondrial Encephalomyopathy

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MalaCards organs/tissues related to Mitochondrial Encephalomyopathy:

36
Brain, Skeletal muscle, Heart, Cortex, Pituitary, Skin, Endothelial

Publications for Mitochondrial Encephalomyopathy

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Articles related to Mitochondrial Encephalomyopathy:

(show top 50)    (show all 260)
idTitleAuthorsYear
1
Prediction of long-term prognosis by heteroplasmy levels of the m.3243A>G mutation in patients with the mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome. (27869334)
2017
2
Recommendations for the Management of Strokelike Episodes in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes. (26954033)
2016
3
Case report: 5A year follow-up of adult late-onset mitochondrial encephalomyopathy with lactic acid and stroke-like episodes (MELAS). (27896131)
2016
4
Audiological manifestations in mitochondrial encephalomyopathy lactic acidosis and stroke like episodes (MELAS) syndrome. (27359089)
2016
5
Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene. (27099744)
2016
6
Sigmoid volvulus in a patient with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS): a rare occurrence. (26935953)
2016
7
Migratory stroke-like lesions in a case of adult-onset mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome and a review of imaging findings. (27920873)
2016
8
The ATP-sensitive K channel is seizure protective and required for effective dietary therapy in a model of mitochondrial encephalomyopathy. (27868454)
2016
9
Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes (MELAS): A Case Report and Critical Reappraisal of Treatment Options. (26797286)
2016
10
Epilepsy Characteristics and Clinical Outcome in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS). (27671241)
2016
11
Mitochondrial Encephalomyopathy With Lactic Acidosis and Strokelike Episodes Presenting Before 50 Years of Age: When a Stroke Is Not Just a Stroke. (26953663)
2016
12
A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders. (25934856)
2015
13
Adrenal Insufficiency in Mitochondrial Disease: A Rare Case of GFER-Related Mitochondrial Encephalomyopathy and Review of the Literature. (26018198)
2015
14
Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation. (26561570)
2015
15
Focal and Generalized Seizures May Occur in Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes (MELAS) Patients. (25637648)
2015
16
RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy. (26094573)
2015
17
Recurrent Stroke-Like Episodes in FBXL4-Associated Early-Onset Mitochondrial Encephalomyopathy. (26421988)
2015
18
Mitochondrial genetic analysis in a Chinese family suffering from both mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes and diabetes. (26261593)
2015
19
L-Arginine Affects Aerobic Capacity and Muscle Metabolism in MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-Like Episodes) Syndrome. (25993630)
2015
20
Additive effect of nuclear and mitochondrial mutations in a patient with mitochondrial encephalomyopathy. (25736212)
2015
21
Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy. (26185144)
2015
22
Mitochondrial encephalomyopathy: towards diagnosis. A case report. (24636775)
2014
23
Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) in the older adult. (24828681)
2014
24
VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies. (24827421)
2014
25
High cytochrome c oxidase expression links to severe skeletal energy failure by (31)P-MRS spectroscopy in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes. (24674659)
2014
26
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episode leading to recurrent superior mesenteric artery syndrome. (24655600)
2014
27
Mitochondrial encephalomyopathy with cytochrome c oxidase deficiency caused by a novel mutation in the MTCO1 gene. (24956508)
2014
28
Phenotypic analysis of epilepsy in the mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes-associated mitochondrial DNA A3243G mutation. (25038129)
2014
29
Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion. (24986829)
2014
30
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome mimicking herpes simplex encephalitis on imaging studies. (23493219)
2013
31
Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. (23993194)
2013
32
Mitochondrial encephalomyopathy due to a novel mutation in ACAD9. (23836383)
2013
33
A novel mitochondrial tRNA Arg mutation resulting in an anticodon swap in a patient with mitochondrial encephalomyopathy. (22781096)
2013
34
A novel mutation in the mitochondrial DNA cytochrome b gene (MTCYB) in a patient with mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes syndrome. (22638077)
2013
35
Evaluation of a mitochondrial disease criteria scoring system on mitochondrial encephalomyopathy in Chinese patients. (23002909)
2013
36
Expanding spectrum of abnormal movements in MELAS syndrome (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes). (23079769)
2012
37
Carotid dissection in mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes. (21076841)
2011
38
A8344G mutation of the mitochondrial DNA with typical mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome. (22611618)
2011
39
Variable phenotypes in a family with mitochondrial encephalomyopathy harboring a 3291T > C mutation in mitochondrial DNA. (21863273)
2011
40
Anesthetic considerations in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome: a case series. (21656321)
2011
41
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes. (21427669)
2011
42
Human mitochondrial leucyl-tRNA synthetase corrects mitochondrial dysfunctions due to the tRNALeu(UUR) A3243G mutation, associated with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like symptoms and diabetes. (20194621)
2010
43
A novel mutation in the mitochondrial tRNA for tryptophan causing a late-onset mitochondrial encephalomyopathy. (19744136)
2010
44
Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor. (20362274)
2010
45
Modeling mitochondrial encephalomyopathy in Drosophila. (20472065)
2010
46
Disruption of endothelial tight junctions in a patient with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS). (20799154)
2010
47
Coexistence of mitochondrial and nuclear DNA mutations in a woman with mitochondrial encephalomyopathy and double cortex. (20433951)
2010
48
Serial diffusion imaging in a case of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes. (19095975)
2009
49
Septic shock induced by Lecythophora mutabilis in a patient with mitochondrial encephalomyopathy. (19528157)
2009
50
Heart diseases in mitochondrial encephalomyopathy, lactic acidosis, and stroke syndrome. (19925507)
2009

Variations for Mitochondrial Encephalomyopathy

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Clinvar genetic disease variations for Mitochondrial Encephalomyopathy:

5
id Gene Variation Type Significance SNP ID Assembly Location
1FARS2NM_006567.4(FARS2): c.431A> G (p.Tyr144Cys)SNVLikely pathogenic, Pathogenicrs397514610GRCh37Chr 6, 5369234: 5369234
2MFFNM_020194.5(MFF): c.190C> T (p.Gln64Ter)SNVLikely pathogenic, Pathogenicrs397514615GRCh37Chr 2, 228195493: 228195493
3FBXL4NM_012160.4(FBXL4): c.1444C> T (p.Arg482Trp)SNVLikely pathogenic, Pathogenicrs398123061GRCh37Chr 6, 99323549: 99323549

Copy number variations for Mitochondrial Encephalomyopathy from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1267521mtDNA116569Copy numberMitochondrial encephalomyopathy

Expression for genes affiliated with Mitochondrial Encephalomyopathy

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Search GEO for disease gene expression data for Mitochondrial Encephalomyopathy.

Pathways for genes affiliated with Mitochondrial Encephalomyopathy

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GO Terms for genes affiliated with Mitochondrial Encephalomyopathy

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Cellular components related to Mitochondrial Encephalomyopathy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial respiratory chain complex IGO:000574710.2MT-ND1, MT-ND4, MT-ND5
2mitochondrial inner membraneGO:00057438.7AIFM1, MT-CO3, MT-CYB, MT-ND1, MT-ND4, MT-ND5
3mitochondrionGO:00057397.4AIFM1, FARS2, MFF, MT-CO3, MT-CYB, MT-ND1

Biological processes related to Mitochondrial Encephalomyopathy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1response to hydrogen peroxideGO:004254210.4MT-ND5, MT-ND6
2response to nicotineGO:003509410.3MT-ND4, MT-ND6
3hydrogen ion transmembrane transportGO:190260010.2MT-CO3, MT-CYB
4response to organonitrogen compoundGO:00102439.8MT-CYB, MT-ND5
5mitochondrial electron transport, NADH to ubiquinoneGO:00061209.7MT-ND1, MT-ND4, MT-ND5, MT-ND6
6mitochondrial respiratory chain complex I assemblyGO:00329819.7MT-ND1, MT-ND4, MT-ND5, MT-ND6

Molecular functions related to Mitochondrial Encephalomyopathy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1NADH dehydrogenase (ubiquinone) activityGO:00081379.2MT-ND1, MT-ND4, MT-ND5, MT-ND6

Sources for Mitochondrial Encephalomyopathy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet