Encephalomyopathy malady

Wikipedia: Encephalopathy /ɛnˌsɛfəˈlɒpəθi/ means disorder or disease of the brain. In modern usage,...⁴⁴ more...

MalaCards: Encephalomyopathy, also known as mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria, autosomal recessive, is related to mitochondrial encephalomyopathy and mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes. An important gene associated with Encephalomyopathy is MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes), and among its related pathways are Metformin Pathway, Pharmacodynamic and Citric acid cycle (TCA cycle). The compounds n acetylcysteine and citrinin have been mentioned in the context of this disorder. Affiliated tissues include brain, skeletal muscle and pituitary, and related mouse phenotypes are muscle and homeostasis/metabolism.

encephalomyopathy 30 mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria, autosomal recessive 30

mitochondrial encephalomyopathy aminoacidopathy 30

Diseases related to encephalomyopathy by text searches and GeneDecks gene sharing:

(show top 50)    (show all 187)

id	Related Disease	Score	Top Affiliating Genes
1	mitochondrial encephalomyopathy	36.1	MT-ND5, MT-CO2, MT-ATP6, MT-CYB, SUCLA2, NDUFA1
2	mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes	33.3	MT-ND5, MT-TK, MT-TL1, MT-ND4, MT-ND1, MT-ND6
3	melas syndrome	31.8	MT-ND5, MT-TL1
4	lactic acidosis	29.3	MT-ND5, MT-ND4, MT-CO3, MT-ND1, GHRH, SURF1
5	hypogonadism	27.9	GH1, GHRH, NDUFS4, TYMP, POLG, POLG2
6	ophthalmoplegia	27.6	SUCLA2, COX5A, C12orf65, TYMP, TFAM, SOD2
7	parkinson's disease	27.2	BLVRB, MT-ND5, MT-CYB, MT-ND1, CAT, GHRH
8	fibrosis	26.8	VDAC1, MT-ND4, MSTN, HSPD1, CAT, GH1
9	myopathy	23.3	VDAC1, MT-ND5, MT-TK, MT-TL1, MT-CO1, MT-CO2
10	cytochrome-c oxidase deficiency disease	13.8	SURF1, CYCS, COX6B1, COX5A
11	merrf syndrome	13.8	MT-ND5, COX5A, NDUFS4
12	merrf/melas overlap syndrome	13.7	MT-TK, MT-TL1
13	optic nerve disease	13.7	MT-ND4, MT-ND6, NDUFA1
14	cortical blindness	13.7	MT-ND5, MT-ND4, MT-ND1, MT-ND6, POLG
15	alpers syndrome	13.7	SUCLA2, TYMP, TK2, POLG
16	aceruloplasminemia	13.7	SOD1, SOD2, CP
17	leber hereditary optic neuropathy with dystonia	13.7	MT-ND4, MT-ND6
18	mitochondrial neurogastrointestinal encephalopathy disease	13.7	TYMP, POLG
19	spinal muscular atrophy	13.6	COX5A, NDUFS4, TK2, SOD1
20	pituitary hypoplasia	13.6	GH1, GHRH, SOD1, POMC
21	myoclonus epilepsy	13.6	MT-ND5, MT-TK, MT-CO2, TRMU, COX5A
22	combined oxidative phosphorylation deficiency	13.6	MRPS16, AIFM1, C12orf65, TSFM
23	galactosemia	13.6	BCS1L, CS, POLG, CP, CPOX
24	ptosis	13.6	AIFM1, CYCS, TYMP, SOD1, SOD2, POLG
25	neuromuscular disease	13.6	MSTN, MB, DNAH8, CS, RYR1
26	sideroblastic anemia	13.6	MT-CO1, SUCLA2, COX5A, SOD2, CP
27	kearns-sayre syndrome	13.5	MT-ND5, MT-CO2, MT-ATP6, MT-CYB, MT-ND6, COX5A
28	menkes disease	13.5	COX5A, DNAH8, SOD1, CP
29	neuroectodermal endocrine syndrome	13.5	GH1, POLG, POLG2, POMC
30	cadasil	13.5	MB, HSPD1, GHRH, AIFM1, CYCS, NDUFS4
31	progressive external ophthalmoplegia with mitochondrial dna deletions	13.5	POLG, POLG2, SLC25A4
32	pearson syndrome	13.5	TRMU, POLG, NPTX2
33	diabetic cataract	13.5	CAT, SOD1, CP
34	iron deficiency anemia	13.4	MB, CAT, SOD1, CP
35	motor neuron disease	13.4	MT-CO1, GH1, RPS27A, COX5A, SOD1, SOD2
36	pthirus pubis infestation	13.4	MT-CO1, CAT, DNAH8, NPS
37	aicardi-goutieres syndrome	13.4	BCS1L, MT-ND5, FH, SURF1, COX5A, NDUFS4
38	myotonic dystrophy	13.4	MT-ND5, GH1, GHRH, RPS27A, SOD1, POMC
39	myoclonus	13.4	MT-ND5, MT-TK, MT-CO2, TRMU, COX5A, POLG
40	huntington's disease	13.4	BLVRB, CYCS, RPS27A, NDUFS4, SOD1, CP
41	alcohol abuse	13.4	MB, CAT, CYCS, RPS27A, SOD1
42	traumatic brain injury	13.4	MT-CO2, GH1, GHRH, CYCS, RPS27A, SOD1
43	autosomal dominant progressive external ophthalmoplegia	13.4	TFAM, POLG, POLG2, SLC25A4
44	bilirubin metabolic disorder	13.4	BCS1L, MSTN, GH1, NDUFS4, DNAH8, POMC
45	hypoglycemia	13.4	GH1, GHRH, CYCS, SOD1, SOD2, POLG
46	hypopituitarism	13.4	GH1, GHRH, SOD1, POMC
47	muscular atrophy	13.4	MSTN, RPS27A, COX5A, NDUFS4, TK2, SOD1
48	sensorineural hearing loss	13.4	BCS1L, MT-ND5, MT-TL1, MT-CO1, MT-ATP6, MT-ND6
49	lipodystrophy	13.4	MT-ND6, GH1, GHRH, CS, POLG, POLG2
50	diabetic polyneuropathy	13.4	CAT, SOD1, SOD2, POLG, SLC25A4

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to encephalomyopathy:

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MGI Mouse Phenotypes related to encephalomyopathy:

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id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	muscle phenotype	MP:0005369	8.6	RYR1, MT-CO1, MSTN, MB, AIFM1, CRAT
2	homeostasis/metabolism phenotype	MP:0005376	INF	TYMP, NDUFS4, PDSS2, CRAT, SURF1, TK2
3	cardiovascular system phenotype	MP:0005385	INF	CRAT, CYCS, AIFM1, MB, MSTN, MT-ND6

Articles related to encephalomyopathy:

(show top 50)    (show all 71)

id	Title	Authors	Year	Affiliating Genes
1	Two novel mutations in thymidine kinase-2 cause early onset fatal encephalomyopathy and severe mtDNA depletion. (20083405)	Lesko N.... Larsson N.G.	2010	TK2
2	Human mitochondrial leucyl-tRNA synthetase corrects m itochondrial dysfunctions due to the tRNALeu(UUR) A3243G mutation, associated w ith mitochondrial encephalomyopathy, lactic acidosis, and stroke-like symptoms and diabetes. (20194621)	Li R.... Guan M.X.	2010	LARS2
3	Severe X-linked mitochondrial encephalomyopathy assoc iated with a mutation in apoptosis-inducing factor. (20362274)	Ghezzi D.... Zeviani M.	2010	AIFM1
4	Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): case report with a new mutation. (20585803)	BariA9 Z.... HasanoA9lu A.	2010	TYMP
5	Encephalomyopathies caused by abnormal nuclear-mitoch ondrial intergenomic cross-talk. (19772189)	Lamperti C.... Zeviani M.	2009	TYMP, SLC25A4, POLG2
6	Characterization of a novel TYMP splice site mutation associated with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). (19056268)	Taanman J.W.... Ginsberg L.	2009	TYMP
7	Infantile mitochondrial encephalomyopathy with unusual phenotype caused by a novel BCS1L mutation in an isolated complex III-deficient patient. (19162478)	BlA!zquez A.... Ugalde C.	2009	BCS1L
8	Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase. (18499082)	Massa V.... Zeviani M.	2008	COX6B1
9	FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency. (18771761)	Ghezzi D.... Zeviani M.	2008	COX5A, FASTKD2
10	Mitochondrial neurogastrointestinal encephalomyopathy in three siblings: clinical, genetic and neuroradiological features. (17294068)	SchA1pbach W.M.... Mattle H.P.	2007	TYMP
11	Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations. (17287286)	Ostergaard E.... Schwartz M.	2007	SUCLA2
12	A novel ECGF1 mutation in a Thai patient with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). (17544574)	Kintarak J.... Muengtaweepongsa S.	2007	TYMP
13	Mitochondrial ND5 gene variation associated with encephalomyopathy and mitochondrial ATP consumption. (17940288)	McKenzie M.... Duchen M.R.	2007	MT-ND5
14	Cognitive dysfunction and hypogonadotrophic hypogonadism in a Brazilian patient with mitochondrial neurogastrointestinal encephalomyopathy and a novel ECGF1 mutation. (17437622)	Carod-Artal F.J.... Montoya J.	2007	TYMP
15	Mitochondrial complex I encephalomyopathy and cerebra l 5-methyltetrahydrofolate deficiency. (18058625)	Ramaekers V.T.... Blau N.	2007	NDUFS4
16	Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): biochemical features and therapeutic approaches. (17549623)	Lara M.C.... MartA- R.	2007	TYMP
17	Thymidine and deoxyuridine accumulate in tissues of patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). (17612528)	Valentino M.L.... Hirano M.	2007	TYMP
18	Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) (16995425)	HonzA-k T.... Zeman J.	2006	TYMP
19	Detection of common disease-causing mutations in mitochondrial DNA (mitochondrial encephalomyopathy, lactic acidosis with stroke-like episodes MTTL1 3243 A>G and myoclonic epilepsy associated with ragged-red fibers MTTK 8344A>G) by real-time polymerase chain reaction. (16645216)	Fan H.... Farber R.A.	2006	MT-TL1, MT-TK
20	Thymidine phosphorylase gene mutation is not a primary cause of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). (16679698)	Kumagai Y.... Yamamoto T.	2006	TYMP
21	Myostatin expression in muscular dystrophies and mitochondrial encephalomyopathies. (16996410)	Markert C.... Childers M.K.	2006	MSTN
22	Myostatin expression in muscular dystrophies and mitochondrial encephalomyopathies. (16638502)	Castro-Gago M.... Devesa J.	2006	MSTN
23	Sequence analysis of nuclear genes encoding functionally important complex I subunits in children with encephalomyopathy. (16142472)	Hinttala R.... Majamaa K.	2005	NDUFS2, NDUFS3, NDUFS8
24	Mutations in mtDNA-encoded cytochrome c oxidase subunit genes causing isolated myopathy or severe encephalomyopathy. (16288875)	Horvath R.... Lochmuller H.	2005	MT-CO2, MT-CO3
25	ND5 is a hot-spot for multiple atypical mitochondrial DNA deletions in mitochondrial neurogastrointestinal encephalomyopathy. (14613972)	Nishigaki Y.... Hirano M.	2004	TYMP
26	Molecular epidemiology of childhood mitochondrial encephalomyopathies in a Finnish population: sequence analysis of entire mtDNA of 17 children reveals heteroplasmic mutations in tRNAArg, tRNAGlu, and tRNALeu(UUR) genes. (15286228)	Uusimaa J.... Majamaa K.	2004	MT-TR, MT-TE
27	Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes. (14720311)	Hirano M.... MartA- R.	2004	TYMP
28	Different tissue distribution of a mitochondrial DNA duplication and the corresponding deletion in a patient with a mild mitochondrial encephalomyopathy: deletion in muscle, duplication in blood. (15036329)	Houshmand M.... Holme E.	2004	MT-CO1
29	Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy. (12825077)	Van Goethem G.... Vissing J.	2003	POLG, TYMP
30	Overexpressions of myoglobin and antioxidant enzymes in ragged-red fibers of skeletal muscle from patients with mitochondrial encephalomyopathy. (14506721)	Kunishige M.... Matsumoto T.	2003	SOD1, SOD2, CAT
31	Mitochondrial neurogastrointestinal encephalomyopathy and thymidine metabolism: results and hypotheses. (16120316)	Marti R.... Hirano M.	2002	TYMP
32	Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy. (11220739)	Loeffen J.... van den Heuvel L.	2001	NDUFS2
33	Apoptosis and ROS detoxification enzymes correlate with cytochrome c oxidase deficiency in mitochondrial encephalomyopathies. (11312605)	Di Giovanni S.... Servidei S.	2001	COX5A
34	The incidence of mitochondrial encephalomyopathies in childhood: clinical features and morphological, biochemical, and DNA anbormalities. (11261513)	Darin N.... Tulinius M.	2001	SURF1
35	Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene. (11047755)	Keightley J.A.... Kennaway N.G.	2000	MT-CYB
36	Abnormal levels of human mitochondrial transcription factor A in skeletal muscle in mitochondrial encephalomyopathies. (11382203)	Siciliano G.... Iudice A.	2000	COX5A, TFAM
37	Muscle carnitine acetyltransferase and carnitine defi ciency in a case of mitochondrial encephalomyopathy. (10518284)	Melegh B.... MAches K.	1999	CRAT
38	Treatment of mitochondrial encephalomyopathy with a combination of cytochrome C and vitamins B1 and B2. (9187476)	Tanaka J.... Okada S.	1997	CYCS
39	Histological determination of nitric oxide synthase (NOS) and NADPH-diaphorase in ragged-red fibers from patients with mitochondrial encephalomyopathies. (9171323)	Ohkoshi N.... Shoji S.	1997	BLVRB
40	Cytochrome c oxidase deficiency in fibroblasts of a patient with mitochondrial encephalomyopathy. (8918062)	Lee W.T.... Shen Y.Z.	1996	RYR1
41	Superoxide dismutases of muscle in mitochondrial encephalomyopathies. (7565923)	Ohkoshi N.... Yoshizawa K.	1995	SOD2
42	Gonadal dysfunction in mitochondrial encephalomyopathies. (8542917)	Chen C.M.... Huang C.C.	1995	POMC
43	Multiple deletions of mitochondrial DNA in sporadic and atypical cases of encephalomyopathy. (8064325)	Checcarelli N.... Scarlato G.	1994	CPOX
44	Specific enzyme diagnosis in mitochondrial myopathies and encephalomyopathies (8170674)	LA!szlA^ A.... Zombori J.	1994	MDH2, CS, CRAT
45	Quantitative evaluation of electron transport system proteins in mitochondrial encephalomyopathy. (8386896)	Haginoya K.... TADA K.	1993	COX5A
46	Immunolocalization of heat shock proteins in ragged-r ed fibers of patients with mitochondrial encephalomyopathies. (8101114)	Sparaco M.... Bonilla E.	1993	RPS27A
47	A molecular genetic study of focal histochemical defects in mitochondrial encephalomyopathies. (1606473)	Hammans S.R.... Harding A.E.	1992	COX5A
48	Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) associated with hypothalamo-pituitary hypofunctio n--a case report (2060243)	Ishii A.... Kanazawa I.	1991	GH1, GHRH
49	Mitochondrial encephalomyopathies: biochemical approach. (1660180)	DiMauro S.... Schon E.A.	1991	COX5A
50	A mitochondrial encephalomyopathy due to partial cyt ochrome c oxidase deficiency with giant evoked potentials--a case report (2177689)	Higashi Y.... Shirabe T.	1990	DNAH8

Genes related to encephalomyopathy according to GeneCards:

(show top 50)    (show all 77)

id	Symbol	Description	Score	GeneCards Section Context
1	MELAS	mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes	11.1	Aliases & Descriptions
2	TYMP	thymidine phosphorylase	11.1	Summaries, Publications
3	AIFM1	apoptosis-inducing factor, mitochondrion-associated, 1	11.1	Publications, Summaries
4	COX6B1	cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)	11.0	Publications, Summaries
5	COQ2	coenzyme Q2 homolog, prenyltransferase (yeast)	11.0	Summaries
6	MT-ND5	mitochondrially encoded NADH dehydrogenase 5	11.0	Publications
7	MT-TK	mitochondrially encoded tRNA lysine	11.0	Publications
8	MT-TL1	mitochondrially encoded tRNA leucine 1 (UUA/G)	11.0	Publications
9	NDUFA1	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa	11.0	Publications
10	CPOX	coproporphyrinogen oxidase	11.0	Publications
11	MSTN	myostatin	11.0	Publications
12	MT-ATP6	mitochondrially encoded ATP synthase 6	11.0
13	GHRH	growth hormone releasing hormone	11.0	Publications
14	COX5A	cytochrome c oxidase subunit Va	11.0	Publications
15	NDUFS4	NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)	11.0	Publications
16	RYR1	ryanodine receptor 1 (skeletal)	11.0	Publications
17	HSPD1	heat shock 60kDa protein 1 (chaperonin)	11.0	Publications
18	GH1	growth hormone 1	11.0	Publications
19	CYCS	cytochrome c, somatic	11.0	Publications
20	SOD2	superoxide dismutase 2, mitochondrial	11.0	Publications
21	MT-CO2	mitochondrially encoded cytochrome c oxidase II	11.0	Publications
22	MT-ND1	mitochondrially encoded NADH dehydrogenase 1	11.0
23	MT-ND4	mitochondrially encoded NADH dehydrogenase 4	11.0
24	MT-ND6	mitochondrially encoded NADH dehydrogenase 6	11.0	Publications
25	NDUFV1	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	11.0	Summaries
26	MT-TE	mitochondrially encoded tRNA glutamic acid	11.0	Publications
27	MT-TR	mitochondrially encoded tRNA arginine	11.0	Publications
28	FASTKD3	FAST kinase domains 3	11.0
29	BCS1L	BCS1-like (S. cerevisiae)	11.0	Publications
30	TSFM	Ts translation elongation factor, mitochondrial	11.0
31	FASTKD2	FAST kinase domains 2	11.0	Publications
32	SURF1	surfeit 1	11.0	Publications
33	MT-CYB	mitochondrially encoded cytochrome b	11.0	Publications
34	TFAM	transcription factor A, mitochondrial	11.0	Publications
35	TK2	thymidine kinase 2, mitochondrial	11.0	Publications
36	FH	fumarate hydratase	11.0
37	SUCLA2	succinate-CoA ligase, ADP-forming, beta subunit	11.0	Publications
38	CS	citrate synthase	11.0	Publications
39	POLG	polymerase (DNA directed), gamma	11.0	Publications
40	CRAT	carnitine O-acetyltransferase	11.0	Publications
41	LARS2	leucyl-tRNA synthetase 2, mitochondrial	11.0	Publications
42	BLVRB	biliverdin reductase B (flavin reductase (NADPH))	11.0	Publications
43	MB	myoglobin	11.0	Publications
44	CP	ceruloplasmin (ferroxidase)	11.0	Publications
45	RPS27A	ribosomal protein S27a	11.0	Publications
46	POMC	proopiomelanocortin	11.0	Publications
47	DNAH8	dynein, axonemal, heavy chain 8	11.0	Publications
48	SOD1	superoxide dismutase 1, soluble	11.0	Publications
49	CAT	catalase	11.0	Publications
50	MT-CO1	mitochondrially encoded cytochrome c oxidase I	11.0	Publications

Pathways related to encephalomyopathy according to GeneDecks:

(show all 14)

id	Pathway	Score	Top Affiliating Genes
1	Metformin Pathway, Pharmacodynamic34	10.0	NDUFS2, NDUFS4, NDUFA1, NDUFV1
2	Citric acid cycle (TCA cycle)38	10.0	CS, MDH2, SUCLA2, FH
3	Citrate cycle (TCA cycle)20	9.9	MDH2, CS, SUCLA2, FH
4	Doxorubicin Pathway, Pharmacokinetics34	9.9	CAT, NDUFS2, NDUFS3, SOD1
5	Apoptosis and survival_Regulation of Apoptosis by Mitochondrial Proteins41	9.8	AIFM1, SLC25A4, CYCS, VDAC1
6	Apoptosis and survival Regulation of Apoptosis by Mitochondrial Proteins10	9.5	CYCS, SLC25A4, AIFM1, VDAC1
7	Cardiac muscle contraction20	9.5	COX5A, COX6B1, MT-CO3, MT-CYB, MT-CO2, MT-CO1
8	Aminoacyl-tRNA biosynthesis20	9.1	FARS2, RARS2, DARS2, LARS2, MT-TL1, MT-TK
9	Alzheimers disease20	8.6	NDUFS2, NDUFS3, NDUFS4, NDUFS8, NDUFV1, NDUFA8
10	Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.38	8.4	MT-ND5, MT-CO1, MT-CO2, MT-ND4, MT-ATP6, MT-CO3
11	Oxidative phosphorylation20	8.4	MT-ATP6, MT-CO3, MT-CYB, MT-ND1, MT-ND6, COX6B1
12	Huntingtons disease20	7.7	NDUFS2, NDUFS3, NDUFS4, NDUFS8, NDUFV1, TFAM
13	Parkinsons disease20	7.7	VDAC1, MT-ND5, MT-CO1, MT-CO2, MT-ND4, MT-ATP6
14	Metabolic pathways20	INF	, NDUFS2, NDUFS3, NDUFS4, NDUFS8, TYMP

Compounds related to encephalomyopathy according to GeneDecks:

(show top 50)    (show all 153)

id	Compound	Score	Top Affiliating Genes
1	n acetylcysteine32	10.4	RPS27A, HSPD1, CRAT
2	citrinin32	10.3	NDUFS4, CYCS, CAT, MT-CYB, SOD1
3	antimycin a32	10.3	CYCS, SOD1, NDUFS4, SOD2, MT-CYB, CAT
4	trolox32	10.3	MB, CYCS, COX5A, SOD1, CAT, SOD2
5	fenton32	10.3	MT-CYB, HSPD1, CAT, SOD2, CP, SOD1
6	ubiquinone32	10.3	MT-CYB, MT-ND4, CYCS, COQ2, NDUFS4, SOD1
7	dmpo32	10.3	SOD1, SOD2, CP, CAT, MB
8	ascorbic acid32 18	11.2	COX5A, AIFM1, SOD2, MT-CYB, CS, POMC
9	peroxynitrite32	10.2	COX5A, CYCS, NDUFS4, CAT, MB, SOD1
10	zidovudine32 9 9	12.1	COX5A, MT-CO2, TYMP, TK2, SOD2, CS
11	diethyl dithiocarbamate32	10.0	SOD2, TFAM, COX5A, POLG2, POLG, SOD1
12	rotenone32	10.0	MT-ND1, MT-ND6, MB, CAT, AIFM1, CYCS
13	hydroquinone32 18	11.0	CYCS, MT-CYB, CAT, MDH2, SOD1, SOD2
14	levodopa32 9 9	12.0	NDUFS4, SOD1, CS, CP, CAT, RPS27A
15	sodium nitroprusside32	9.9	DNAH8, CAT, GH1, COX5A, MB, BLVRB
16	doxorubicin32 34 9 9	12.9	MB, SOD2, DNAH8, TYMP, NDUFS4, COX5A
17	4-hydroxynonenal32 18	10.9	CS, SOD2, SOD1, DNAH8, RPS27A, CYCS
18	coq1032	9.9	CS, COQ9, PDSS1, COQ2, APTX
19	alanine32	9.8	CPOX, DNAH8, POMC, RYR1, POLG, MB
20	sodium azide32	9.8	SOD1, CP, DNAH8, CAT, COX5A
21	indomethacin32 9 9	11.8	COX5A, CPOX, HSPD1, CAT, POMC, GH1
22	mptp32	9.7	SLC25A4, RPS27A, CYCS, AIFM1, VDAC1, SOD2
23	nitric oxide32 9 18 9	12.7	BLVRB, VDAC1, TYMP, COX5A, CS, CPOX
24	copper32 18	10.7	MT-CO1, SOD2, MT-CO2, MT-CYB, MDH2, HSPD1
25	glyceraldehyde 3-phosphate32	9.7	MT-CYB, VDAC1, RYR1, MDH2, HSPD1, TYMP
26	nad+32	9.7	RYR1, VDAC1, CS, BLVRB, MT-ND4, MT-CYB
27	azide32	9.6	MB, SOD1, CAT, CP, RYR1
28	fatty acid32	9.6	GHRH, CRAT, TFAM, SLC25A4, CPOX, HSPD1
29	N-Formylmethionine9 9	10.6	MT-CO1, COX5A, COX6B1, MT-ND1, MT-CO3, MT-CO2
30	malate32	9.6	CS, DNAH8, RPS27A, HSPD1, MDH2, FH
31	superoxide32 18	10.5	FH, MT-CYB, BLVRB, HSPD1, MDH2, AIFM1
32	acetylcholine32 9 18 9	12.5	DNAH8, BLVRB, POMC, MB, GH1, CRAT
33	pyruvate32	9.5	MT-ND4, MT-ND1, FH, MDH2, HSPD1, SURF1
34	glucose 6-phosphate32 18	10.4	COX5A, CS, CAT, CRAT, FH, SOD1
35	aspartate32	9.4	POMC, RYR1, HSPD1, CS, SOD2, DNAH8
36	hydrogen32 18	10.3	DNAH8, RYR1, HSPD1, CPOX, MT-CO1, CS
37	glutamate32	9.3	GHRH, COX5A, BLVRB, AIFM1, CRAT, VDAC1
38	succinate32	9.2	COX5A, NDUFS4, DNAH8, SOD2, CS, RYR1
39	glutamine32	9.1	RPS27A, TFAM, GH1, VDAC1, MB, MDH2
40	adenylate32	9.1	GHRH, DNAH8, POMC, CS, SLC25A4, RPS27A
41	oxygen32 18	9.9	CPOX, CP, SLC25A4, POLG, CS, TFAM
42	arginine32	8.9	RYR1, MB, GH1, CPOX, RPS27A, COX5A
43	h2o232	8.9	CAT, SOD2, SOD1, NDUFS4, COX5A, RPS27A
44	creatinine32	8.7	GH1, HSPD1, MB, MDH2, FH, MT-CYB
45	citrate32	8.6	MT-CO1, MB, MDH2, FH, MT-CO3, MT-CO2
46	lactate32	8.6	CP, POLG, CS, SOD2, SOD1, TFAM
47	glucose32	8.2	HSPD1, GH1, FH, TFAM, TYMP, NDUFS4
48	iron32 18	9.1	CPOX, CP, CS, SOD2, MT-ND4, MT-CO1
49	atp32	7.2	CPOX, CS, SOD2, DNAH8, TFAM, TK2
50	nadh32 9 18 9	9.4	COX5A, CPOX, NDUFA1, NDUFA8, NDUFAF2, NDUFAF4

Cellular components related to encephalomyopathy according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	mitochondrial intermembrane space	GO:005758	9.7	NDUFA8, COX6B1, CAT, AIFM1, CYCS, CPOX
2	mitochondrial respiratory chain complex I	GO:005747	9.4	NDUFS4, NDUFS8, NDUFV1, NDUFS3, NDUFS2, NDUFA8
3	mitochondrial nucleoid	GO:042645	9.4	POLG, TFAM, SSBP1, VDAC1, POLG2
4	mitochondrial inner membrane	GO:005743	8.5	CPOX, MDH2, VDAC1, HSPD1, AIFM1, CYCS
5	mitochondrial matrix	GO:005759	8.2	LARS2, FH, MDH2, FARS2, HSPD1, SUCLA2
6	mitochondrion	GO:005739	INF	ADCK3, CPOX, SLC25A4, POLG2, POLG, SOD2

Biological processes related to encephalomyopathy according to GeneDecks:

(show all 10)

id	Name	GO ID	Score	Top Affiliating Genes
1	mitochondrial respiratory chain complex I assembly	GO:032981	10.1	NDUFS8, NDUFS4, NDUFAF4, AIFM1, BCS1L
2	cellular respiration	GO:045333	10.1	FASTKD3, FASTKD2, CYCS, FASTKD1, NDUFS4
3	DNA-dependent DNA replication	GO:006261	10.1	TFAM, POLG2, POLG
4	tricarboxylic acid cycle	GO:006099	9.9	FH, CS, SUCLA2, MDH2
5	mitochondrial electron transport, NADH to ubiquinone	GO:006120	9.7	NDUFA1, NDUFA8, NDUFS4, NDUFV1, NDUFS8, NDUFS3
6	respiratory electron transport chain	GO:022904	9.6	NDUFS4, NDUFS8, NDUFV1, CYCS, COX6B1, COX5A
7	ubiquinone biosynthetic process	GO:006744	9.4	PDSS1, PDSS2, COQ9, COQ2
8	isoprenoid biosynthetic process	GO:008299	9.4	PDSS2, PDSS1, COQ2
9	tRNA aminoacylation for protein translation	GO:006418	8.8	FARS2, RARS2, LARS2, DARS2
10	small molecule metabolic process	GO:044281	7.9	SUCLA2, CAT, MDH2, FH, BLVRB, CS

Molecular functions related to encephalomyopathy according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	superoxide dismutase activity	GO:004784	10.0	SOD2, SOD1
2	NADH dehydrogenase activity	GO:003954	9.9	NDUFS8, NDUFS3, NDUFS2
3	trans-hexaprenyltranstransferase activity	GO:000010	9.6	PDSS2, PDSS1
4	electron carrier activity	GO:009055	9.3	NDUFS8, NDUFS3, NDUFS2, NDUFAF2, COX5A, AIFM1
5	NADH dehydrogenase (ubiquinone) activity	GO:008137	9.2	NDUFS4, NDUFV1, NDUFS3, NDUFS2, NDUFAF2, NDUFA8
6	4 iron, 4 sulfur cluster binding	GO:051539	INF	, NDUFS2, NDUFS8, NDUFV1