Hypotonia malady

Wikipedia: Hypotonia is a state of low muscle tone (the amount of tension or resistance to movement in a muscle),...⁴⁴ more...

MalaCards: Hypotonia, also known as hypotonicity, is related to hypotonia-cystinuria syndrome and infantile hypotonia. An important gene associated with Hypotonia is DEL2P21 (Hypotonia-cystinuria syndrome), and among its related pathways are Metabolic pathways and Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein. The compounds iron and atp have been mentioned in the context of this disorder. Affiliated tissues include brain, and related mouse phenotypes are mortality/aging and integument.

NINDS: Hypotonia is a medical term used to describe decreased muscle tone. ³¹

hypotonia 31 hypotonicity 43

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

(show top 50)    (show all 272)

id	Related Disease	Score	Top Affiliating Genes
1	hypotonia-cystinuria syndrome	31.4	CAMKMT, DEL2P21, PREPL, SLC3A1
2	infantile hypotonia	31.1	MECP2, AP4M1, ACADS
3	succinic semialdehyde dehydrogenase deficiency	30.5	ASPA, GPT, ALDH5A1, GLUD1, ABAT
4	seizures	29.3	PIGN, PIGV, BTD, PAX6, UNC13D, KCNK9
5	methylmalonic acidemia	29.1	MVK, MUT, MLYCD, SUCLA2, SUCLG1, ACSF3
6	zellweger syndrome	28.2	MVK, PHEX, PEX10, PEX12, PEX14, PEX16
7	rett syndrome	27.8	UBA1, UBE3A, MT-CO1, FOXG1, MECP2, EGR2
8	nemaline myopathy	27.7	TPM2, TPM3, TNNT1, ACTA1, RYR1, NEB
9	hypoglycemia	27.7	PCK2, PCK1, BTD, MLYCD, GLUD1, OTX2
10	walker-warburg syndrome	27.6	LAMA2, LAMB2, FKTN, ALG1, DMD, DPM3
11	cerebellar hypoplasia	27.6	LAMB2, CC2D2A, CASK, TMEM67, RPGRIP1L, PMM2
12	sialuria	27.5	MYO5A, ATP7A, SLC17A5, SLC35A1, PEX2
13	myopathy	27.5	COA5, BTD, LMNA, SCO1, MVK, MT-CO1
14	joubert syndrome	27.4	KIF7, CEP290, CEP41, ARL13B, INPP5E, CC2D2A
15	menkes disease	27.3	SCO1, ATP7A, ATP7B, COG7, SOD1, CP
16	canavan disease	27.3	ASPA, GPT, ALDH5A1, GLUD1
17	cerebrooculofacioskeletal syndrome	27.3	ERCC2, ERCC1, ERCC6
18	microcephaly	27.3	VPS13B, PAX6, UPB1, UBE3A, LAMA2, QDPR
19	glycogen storage disease	27.2	BTD, DMD, PHKG2, DPAGT1, SOD1, GBE1
20	galactosemia	27.1	SCO1, GPT, ERCC1, DGUOK, SLC17A5, CP
21	hypertrophic cardiomyopathy	27.1	COA5, LMNA, SCO1, MT-CO1, MT-CO2, MT-CO3
22	congenital cataracts	26.7	LMNA, PAX6, ATP7A, ATP7B, DMD, OCRL
23	hearing loss	26.4	BTD, MT-CO1, ATP7A, ATP7B, MPZ, FLNA
24	cataract	26.2	LMNA, PAX6, MVK, ATP7A, ATP7B, FH
25	obesity	24.2	KIF7, PCK2, PCK1, VPS13B, LMNA, PAX6
26	anemia	22.4	PIGA, LMNA, MVK, MUT, UBA1, MT-CO1
27	congenital disorder of glycosylation	14.8	COG1, RFT1, B4GALT1, MPDU1, MOGS, MGAT2
28	refsum disease	14.4	ATCAY, OGDH, PEX10, PEX12, PEX14, PEX16
29	zellweger syndrome spectrum	14.3	PEX10, PEX12, PEX14, PEX16, PEX19, PEX2
30	peroxisome biogenesis factor	14.3	PEX10, PEX12, PEX14, PEX16, PEX19, PEX2
31	infantile refsum disease	14.3	PEX10, PEX12, PEX14, PEX16, PEX19, PEX2
32	apraxia	14.2	KIF7, CEP290, ATCAY, ARL13B, INPP5E, MECP2
33	peroxisome biogenesis disorders, zellweger syndrome spectrum	14.2	PEX10, PEX12, PEX2, PEX26, PEX6
34	rhizomelic chondrodysplasia punctata	14.2	MVK, PHEX, PEX10, PEX12, PEX14, PEX16
35	peroxisome biogenesis disorders	14.2	PHEX, PEX10, PEX12, PEX14, PEX16, PEX19
36	peroxisomal biogenesis disorder	14.2	PHEX, PEX10, PEX12, PEX14, PEX16, PEX19
37	chondrodysplasia punctata	14.2	MVK, PHEX, PEX10, PEX12, PEX14, PEX16
38	chondrodysplasia	14.2	MVK, PHEX, TTC21B, PEX10, PEX12, PEX14
39	ophthalmoplegia	14.1	CHRND, LAMB2, ATXN7, AQP4, TUBB3, SUCLA2
40	oculomotor apraxia	14.1	KIF7, CEP290, ARL13B, INPP5E, CC2D2A, TMEM216
41	early-onset ataxia with oculomotor apraxia and hypoalbuminemia	14.1	KIF7, CEP290, ARL13B, INPP5E, CC2D2A, TMEM216
42	congenital disorder of glycosylation type ii	14.1	COG1, ALG2, COG4, SLC35A1
43	polydactyly	14.1	KIF7, CEP290, FLNA, ARL13B, INPP5E, CC2D2A
44	cytochrome-c oxidase deficiency disease	14.0	LRPPRC, SCO1, COX6B1, COX15, COX10
45	slow-channel congenital myasthenic syndrome	14.0	CHRND, CHRNB1, CHRNE
46	mitochondrial complex v deficiency	14.0	ATP5E, ATPAF2, TMEM70
47	hypertonia	14.0	QDPR, AP4B1, AP4M1, AP4S1
48	encephalocele	14.0	CEP290, CC2D2A, TMEM216, TMEM67, RPGRIP1L, TCTN2
49	encephaloceles	14.0	CEP290, CC2D2A, TMEM216, TMEM67, RPGRIP1L, TCTN2
50	nephronophthisis	14.0	CEP290, ARL13B, INPP5E, CC2D2A, TMEM216, TMEM67

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to hypotonia:

²²

MGI Mouse Phenotypes related to hypotonia:

²⁵ (show all 20)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	mortality/aging	MP:0010768	INF	SOD1, PMM2, SLC35C1, SLC17A5, SLC25A12, SLC35A1
2	integument phenotype	MP:0010771	INF	MECP2, ERCC2, ERCC1, ERCC6, , PLOD1
3	growth/size phenotype	MP:0005378	INF	MEF2C, MT-CO1, UBE3A, MUT, SCN1A, PAX6
4	renal/urinary system phenotype	MP:0005367	INF	ACADS, TMEM67, ERCC1, GAMT, MANBA, AQP4
5	skeleton phenotype	MP:0005390	INF	RRM2B, TTN, QDPR, SLC3A1, ERCC6, SOD1
6	respiratory system phenotype	MP:0005388	INF	AQP4, TUBB3, DMD, OTX2, OFD1,
7	muscle phenotype	MP:0005369	INF	MTM1, MT-CO1, PAX6, MYO5A, LMNA, BTD
8	embryogenesis phenotype	MP:0005380	INF	ARL13B, FKTN, MECP2, MEF2C, MED12, CC2D2A
9	endocrine/exocrine gland phenotype	MP:0005379	9.5	PEX2, PEX5, GAMT, OTX2, RRM2B, MECP2
10	homeostasis/metabolism phenotype	MP:0005376	INF	MAOB, MGAT2, , LMNA, BTD, PCK1
11	nervous system phenotype	MP:0003631	INF	PHEX, , , NR5A1, SRD5A3, OFD1
12	reproductive system phenotype	MP:0005389	INF	ACSL4, ACADL, EGR2, , NR5A1, OTX2
13	craniofacial phenotype	MP:0005382	INF	OFD1, OTX2, DYRK1A, MED12, MECP2, MGAT2
14	cellular phenotype	MP:0005384	INF	SLC35C1, SNRPN, NR5A1, OTX2, DDC, TUBB3
15	adipose tissue phenotype	MP:0005375	INF	PHEX, ACTA1, SLC3A1, RYR1, ERCC2, RRM2B
16	liver/biliary system phenotype	MP:0005370	INF	ERCC1, MANBA, ARG1, FLNA, ATP7B, ATP7A
17	behavior/neurological phenotype	MP:0005386	INF	LMNA, MYO5A, PAX6, SCN1A, MUT, UBE3A
18	limbs/digits/tail phenotype	MP:0005371	INF	, ATP7A, MYO5A, LMNA, KIF7,
19	cardiovascular system phenotype	MP:0005385	INF	ACADL, NDUFS4, LTC4S, RPGRIP1L, PLOD1,
20	vision/eye phenotype	MP:0005391	INF	FLNA, INPP5E, CC2D2A, AIFM1, ERCC2, KIF7

Articles related to hypotonia:

(show all 33)

id	Title	Authors	Year	Affiliating Genes
1	De novo duplication 11p13 involving the PAX6 gene in a patient with neonatal seizures, hypotonia, microcephaly, developmental disabi lity and minor ocular manifestations. (21271670)	Aradhya S.... Lacassie Y.	2011	PAX6
2	Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN. (21493957)	Maydan G.... Basel-Vanagaite L.	2011	PIGN
3	Deletion of MAOA and MAOB in a male patient causes se vere developmental delay, intermittent hypotonia and stereotypical hand movemen ts. (20485326)	Whibley A.... Raymond F.L.	2010	MAOA, MAOB
4	Marked hypotonia in an infant of a mother with Devic disease. (20028941)	Zifman E.... Watemberg N.	2010	AQP4
5	Severe mental retardation, seizures, and hypotonia du e to deletions of MEF2C. (20333642)	Nowakowska B.A.... Stankiewicz P.	2010	MEF2C
6	First genomic rearrangement of the RYR1 gene associat ed with an atypical presentation of lethal neonatal hypotonia. (19734047)	Monnier N.... Lunardi J.	2009	RYR1
7	Nemaline myopathy as a cause of neonatal hypotonia - with emphasis on personal experiences. Report of a family with two brothers af fected (19648653)	Bojdo A.... KuA8akowska Z.	2009	ACTA1, TPM3, NEB
8	Glycogen branching enzyme deficiency in an infant with severe congenital hypotonia: an emerging diagnosis of muscle weakness in the perinatal period. (19438752)	Jimenez-Mallebrera C.... Colomer J.	2009	GBE1
9	Severe infantile hypotonia with ethylmalonic aciduria: case report. (18539996)	Okuyaz C.... Yilgor E.	2008	ACADS
10	Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome. (18234729)	Chabrol B.... Creemers J.W.	2008	SLC3A1, PREPL, CAMKMT
11	Massive SCA7 expansion detected in a 7-month-old male with hypotonia, cardiomegaly, and renal compromise. (17254003)	Whitney A.... Lin J.P.	2007	ATXN7
12	A neonate with recurrent vomiting and generalized hypotonia diagnosed with a deficiency of dihydropyrimidine dehydrogenase. (17065071)	Brussel W.... Janssens P.M.	2006	DPYD
13	Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome. (16385448)	Jaeken J.... Matthijs G.	2006	SLC3A1, PREPL
14	Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28. (17088400)	Friez M.J.... Stevenson R.E.	2006	MECP2
15	Disruption of DMD and deletion of ACSL4 causing developmental delay, hypotonia, and multiple congenital anomalies. (16276108)	Bhat S.S.... Srivastava A.K.	2006	ACSL4, DMD
16	LAMB2 gene mutation as a cause of congenital nephrotic syndrome with distinct eye abnormalities and hypotonia (16898484)	Zurowska A.... Zenker M.	2006	LAMB2
17	Non-lethal congenital hypotonia due to glycogen storage disease type IV. (16528737)	Burrow T.A.... Chen Y.T.	2006	GBE1
18	Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism. (15902551)	HorvA!th R.... Jaksch M.	2005	SOD1, CP, ATP7A
19	Cardiomyopathy and hypotonia in a 5-month-old infant with malonyl-coa decarboxylase deficiency: potential for preclinical diagnosis with expanded newborn screening. (16078122)	Ficicioglu C.... Chace D.H.	2005	MLYCD
20	Hypotonia and lethargy: initial manifestations of a new case of galactosemia (15284965)	VA!zquez-LA^pez M.E.... Morales-Redondo R.	2004	GALT
21	Mental retardation and hypotonia seen in the knock out mouse for Canavan disease is not due to succinate semialdehyde dehydrogenase deficiency. (15016427)	Surendran S.... Matalon R.	2004	ALDH5A1, GLUD1, ASPA
22	Infantile hypotonia as a presentation of Rett syndrome. (12210319)	Heilstedt H.A.... Lee B.	2002	MECP2
23	Atypical presentation of dopa-responsive dystonia: generalized hypotonia and proximal weakness. (11571350)	Kong C.K.... Lam C.W.	2001	GCH1
24	A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect. (10482951)	Gillessen-Kaesbach G.... Horsthemke B.	1999	ATP10A
25	Paternal deletion from Snrpn to Ube3a in the mouse causes hypotonia, growth retardation and partial lethality and provides evidence for a gene contributing to Prader-Willi syndrome. (10400982)	Tsai T.F.... Beaudet A.L.	1999	UBE3A, SNRPN, NDN
26	Triosephosphate isomerase deficiency in a child with congenital hemolytic anemia and severe hypotonia. (9842650)	Linarello R.E.... Warrier R.P.	1998	TPI1
27	First U.S. case of adenylosuccinate lyase deficiency with severe hypotonia. (9165520)	Valik D.... Jones J.D.	1997	ADSL
28	X-linked mental retardation with neonatal hypotonia in a French family (MRX15): gene assignment to Xp11.22-Xp21.1. (8826458)	Raynaud M.... Moraine C.	1996	MRX15
29	Congenital fumarase deficiency presenting with hypotonia and areflexia. (8734035)	Narayanan V.... Ahdab-Barmada M.	1996	FH
30	Reversible metabolic myopathy in biotinidase deficiency: its possible role in causing hypotonia. (8750607)	Bay C.A.... Kaplan P.	1995	BTD
31	Neonatal hypotonia and cardiomyopathy secondary to type IV glycogenosis. (8059607)	Tang T.T.... Lubinsky M.S.	1994	GBE1
32	Familial hypotonia of childhood caused by isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency. (1517917)	Elpeleg O.N.... Shalev R.S.	1992	MCCC1
33	Hypoglycemia, hypotonia, and cardiomyopathy: the evolving clinical picture of long-chain acyl-CoA dehydrogenase deficiency. (2000272)	Treem W.R.... Hyams J.S.	1991	ACADL

Genes related to hypotonia according to GeneCards:

(show top 50)    (show all 207)

id	Symbol	Description	Score	GeneCards Section Context
1	DEL2P21	Hypotonia-cystinuria syndrome	11.0	Aliases & Descriptions
2	PREPL	prolyl endopeptidase-like	11.0	Summaries, Publications
3	MAGEL2	MAGE-like 2	11.0	Summaries
4	GAMT	guanidinoacetate N-methyltransferase	11.0	Summaries
5	D2HGDH	D-2-hydroxyglutarate dehydrogenase	11.0	Summaries
6	UBE3A	ubiquitin protein ligase E3A	11.0	Summaries, Publications
7	OGDH	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	11.0	Summaries
8	ABAT	4-aminobutyrate aminotransferase	11.0	Summaries
9	SLC52A2	solute carrier family 52, riboflavin transporter, member 2	11.0	Summaries
10	DSCR4	Down syndrome critical region gene 4	11.0	Summaries
11	DSCR3	Down syndrome critical region gene 3	11.0	Summaries
12	AP4M1	adaptor-related protein complex 4, mu 1 subunit	11.0
13	ACADS	acyl-CoA dehydrogenase, C-2 to C-3 short chain	11.0	Publications
14	SLC3A1	solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1	11.0	Publications
15	MECP2	methyl CpG binding protein 2 (Rett syndrome)	11.0	Publications
16	CAMKMT	calmodulin-lysine N-methyltransferase	11.0	Publications, Expressions
17	MRX15	mental retardation, X-linked 15	10.9	Publications
18	ANCR	Angelman syndrome chromosome region	10.9
19	DPM3	dolichyl-phosphate mannosyltransferase polypeptide 3	10.9
20	DOLK	dolichol kinase	10.9
21	COA5	cytochrome C oxidase assembly factor 5	10.9
22	CHST14	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14	10.9
23	TMEM216	transmembrane protein 216	10.9
24	COG1	component of oligomeric golgi complex 1	10.9
25	CHRNB1	cholinergic receptor, nicotinic, beta 1 (muscle)	10.9
26	SLC35C1	solute carrier family 35, member C1	10.9
27	COX6B1	cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)	10.9
28	MGAT2	mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	10.9
29	COG8	component of oligomeric golgi complex 8	10.9
30	CFL2	cofilin 2 (muscle)	10.9
31	MPDU1	mannose-P-dolichol utilization defect 1	10.9
32	ACP2	acid phosphatase 2, lysosomal	10.9
33	COX15	COX15 homolog, cytochrome c oxidase assembly protein (yeast)	10.9
34	BOLA3	bolA homolog 3 (E. coli)	10.9
35	ALG11	asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog (yeast)	10.9
36	TMEM70	transmembrane protein 70	10.9
37	PEX26	peroxisomal biogenesis factor 26	10.9
38	PEX12	peroxisomal biogenesis factor 12	10.9
39	CHRNE	cholinergic receptor, nicotinic, epsilon (muscle)	10.9
40	PIGV	phosphatidylinositol glycan anchor biosynthesis, class V	10.9
41	ATPAF2	ATP synthase mitochondrial F1 complex assembly factor 2	10.9
42	PEX10	peroxisomal biogenesis factor 10	10.9
43	PEX16	peroxisomal biogenesis factor 16	10.9
44	ACY1	aminoacylase 1	10.9
45	FOXG1	forkhead box G1	10.9
46	AP4B1	adaptor-related protein complex 4, beta 1 subunit	10.9
47	ALG2	asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog (S. cerevisiae)	10.9
48	TCTN1	tectonic family member 1	10.9
49	INPP5E	inositol polyphosphate-5-phosphatase, 72 kDa	10.9
50	SRD5A3	steroid 5 alpha-reductase 3	10.9

Pathways related to hypotonia according to GeneDecks:

(show all 22)

id	Pathway	Score	Top Affiliating Genes
1	Metabolic pathways20	INF	NDUFV1, OCRL, PMM2, RRM2B, ADSL, GBE1
2	Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein38	11.1	RFT1, PMM2, ALG1, ALG11, ALG12, ALG2
3	Valproic Acid Pathway, Pharmacodynamics34	10.9	ABAT, OGDH, SUCLG1, SUCLA2, ALDH5A1
4	Pathway_PA16596447334	10.8	ALDH5A1, OGDH, ABAT, SUCLG1, SUCLA2
5	Propanoate metabolism20	10.7	HIBCH, ABAT, SUCLG1, SUCLA2, MLYCD, MUT
6	Peroxisome20	10.7	MVK, PEX26, PEX19, PEX3, PEX6, PEX16
7	beta-Alanine metabolism20	10.6	MLYCD, UPB1, ABAT, HIBCH, SMS, DPYD
8	Alanine, aspartate and glutamate metabolism20	10.5	ADSL, ASPA, GLUD1, ABAT, ALDH5A1, GPT
9	Lysosome20	10.4	ACP2, GAA, NAGA, AP1S2, SLC17A5, MANBA
10	Glucose metabolism38	10.4	GBE1, PCK1, PCK2, SLC25A12, PHKG2
11	Arginine and proline metabolism20	10.4	ACY1, ARG1, MAOA, MAOB, GLUD1, SMS
12	Metabolism of amino acids and derivatives38	10.3	SLC6A8, OGDH, SMS, DDC, GLUD1, GPT
13	Striated Muscle Contraction38	10.2	TPM3, TNNT1, ACTA1, TTN, TPM2, DMD
14	Transcription factors in neurogenesis10	10.0	NR5A1, PAX6, FOXG1, NDN, OTX2, MEF2C
15	Dilated cardiomyopathy20	9.5	TTN, LAMA2, TPM3, TPM2, LMNA, ITGA7
16	Hypertrophic cardiomyopathy (HCM)20	9.4	ITGA7, LMNA, TPM2, TPM3, DMD, TTN
17	Citrate cycle (TCA cycle)20	INF	OGDH, IDH2, , SUCLG1, SUCLA2, DLAT
18	Parkinsons disease20	INF	ATP5E, MT-CO3, UBA1, COX6B1, NDUFV1, NDUFS4
19	Citric acid cycle (TCA cycle)38	INF	FH, IDH2, SUCLA2, SUCLG1,
20	N-Glycan biosynthesis20	INF	, ALG11, MOGS, MGAT2, ALG1, ALG12
21	Oxidative phosphorylation20	INF	ATP5E, COX6B1, COX15, COX10, MT-CO2,
22	Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.38	INF	, MT-CO3, ATP5E, MT-CO2, COX6B1, MT-CO1

Compounds related to hypotonia according to GeneDecks:

(show all 44)

id	Compound	Score	Top Affiliating Genes
1	iron32 18	INF	NDUFV1, RRM2B, CP, SLC17A5, ATP7B, MT-CO1
2	atp32	INF	ATP7A, AIFM1, ERCC6, TPI1, DMD, DLAT
3	zinc32 18	INF	DMD, AIFM1, MECP2, GALT, SOD1, PHEX
4	acyl-coa32	10.7	PCK2, HLCS, MLYCD, BTD, GLUD1, ACADS
5	carbon dioxide32 18	11.7	MLYCD, OGDH, PCK1, UPB1, IDH2, DLAT
6	nad+32	10.5	NDUFS4, OGDH, RYR1, QDPR, FH, ALDH5A1
7	gaba32 42	11.5	ALDH5A1, MAOB, MAOA, GLUD1, TUBB3, DDC
8	ornithine32 18	11.4	PCK2, DMD, SMS, ABAT, ACY1, DPYD
9	malate32	10.4	FH, GPT, NDUFS4, PCK2, TPI1, OGDH
10	glucose 6-phosphate32 18	11.4	GALT, OGDH, SOD1, GLUD1, TPI1, GAA
11	alpha-ketoglutarate32	10.3	OGDH, GLUD1, ABAT, NDUFS4, PLOD1, DLAT
12	acetyl-coa32 18	11.3	PCK2, ACADL, HLCS, ACSL4, ACSF3, ACADS
13	carnitine32	10.3	HLCS, GAA, CP, SLC25A3, SLC17A5, OGDH
14	milacemide32	10.2	MAOA, SLC17A5, MAOB
15	phenelzine32 9 9	12.2	MAOB, GPT, ABAT, MAOA
16	platinum32	10.1	ATP7A, GLUD1, ERCC2, ERCC1, DPYD, ATP7B
17	mptp32	10.0	SLC25A3, MAOB, AIFM1, DDC, MAOA, GCH1
18	fatty acid32	10.0	ACY1, AIFM1, TPI1, ACADS, ACADL, GAMT
19	salsolinol32	9.9	MAOA, MAOB, NDUFS4
20	flavin-adenine dinucleotide32 9 9	11.8	DPYD, ACADS, AIFM1, MAOA, MAOB
21	succinate32	9.8	DMD, GLUD1, MT-CO1, FH, MAOA, ALDH5A1
22	levodopa32 9 9	11.8	NDUFS4, CP, ABAT, SOD1, DDC, MAOB
23	aspartate32	9.7	GLUD1, GPT, FH, ARG1, ASPA, MPZ
24	glycogen32 18	10.5	PHKG2, DMD, DYRK1A, GPT, MEF2C, BTD
25	citrate32	9.5	OGDH, GLUD1, MT-CO3, MT-CO2, NDUFS4, MT-CO1
26	copper32 18	10.3	ATP7B, MT-CO2, AIFM1, MT-CO1, DPAGT1, SOD1
27	proline32	9.3	HLCS, GLUD1, RYR1, SLC17A5, PAX6, MVK
28	uric acid32 18	10.1	SOD1, PRPS1, SLC17A5, ADSL, CP, GPT
29	superoxide32 18	10.1	FH, ATP7B, MAOB, GLUD1, AIFM1, CP
30	lactate32	9.0	HLCS, GAA, CP, SLC17A5, BTD, MT-CO2
31	alanine32	8.9	DMD, DDC, ABAT, SOD1, SLC17A5, RYR1
32	creatinine32	8.4	OCRL, MVK, LAMA2, MPZ, ITGA7, FH
33	cysteine32	INF	AIFM1, SLC3A1, SOD1, DPYD, TTN, NDUFS4
34	dihydrofolate32	INF	GCH1, GAA, QDPR, , TPI1, ERCC1
35	lipid32	INF	AIFM1, NR5A1, DMD, TPI1, , NDUFS4
36	hydrogen32 18	INF	FH, ARG1, QDPR, MT-CO2, MT-CO1, NDUFS4
37	arginine32	INF	MECP2, DMD, DYRK1A, GLUD1, ALDH5A1, GPT
38	biotin32 9 18 9	INF	MPZ, BTD, PCK2, MUT, , MCCC1
39	rotenone32	INF	ATP5E, NDUFS4, AIFM1, , MAOB, SOD1
40	glucose32	INF	AIFM1, NAGA, LMNA, PAX6, SCO1, BTD
41	alpha lipoic acid32	INF	NDUFS4, , BTD, SOD1, DLAT, OGDH
42	pyruvate32	INF	DLAT, NDUFS4, OGDH, SLC17A5, SLC25A3, HLCS
43	nadh32 9 18 9	INF	OGDH, GLUD1, FH, NDUFS4, AIFM1, ALDH5A1
44	glutamate32	INF	MEF2C, AQP4, MAOA, MAOB, GPT, MECP2

Cellular components related to hypotonia according to GeneDecks:

(show all 13)

id	Name	GO ID	Score	Top Affiliating Genes
1	cytosol	GO:005829	INF	GPT, CEP290, QDPR, MTM1, UBE3A, MVK
2	peroxisomal membrane	GO:005778	10.8	PEX16, PEX19, PEX2, PEX10, PEX3, ACSL4
3	integral to peroxisomal membrane	GO:005779	10.7	PEX10, PEX12, PEX16, PEX2, PEX26, PEX3
4	TCTN-B9D complex	GO:036038	10.6	CC2D2A, TCTN2, AHI1, TMEM216, CEP290, TCTN1
5	peroxisome	GO:005777	10.5	PEX6, PEX5, MLYCD, MVK, SOD1, PEX26
6	microtubule basal body	GO:005932	10.4	TCTN2, CEP290, AHI1, RPGRIP1L, TMEM67, TMEM216
7	nuclear lamina	GO:005652	9.6	LMNA, HLCS, CASK
8	mitochondrion	GO:005739	INF	SOD1, OGDH, D2HGDH, DGUOK, SARS2, SLC25A12
9	mitochondrial matrix	GO:005759	INF	HIBCH, FH, ATP5E, SARS2, MUT, PCK2
10	endoplasmic reticulum membrane	GO:005789	INF	PIGN, ALG6, ALG2, ALG12, ALG11, ALG1
11	mitochondrial inner membrane	GO:005743	INF	TMEM70, AIFM1, IDH2, MAOB, MCCC1, SCO1
12	Golgi transport complex	GO:017119	INF	, COG5, COG7, COG4, COG1, COG8
13	protein complex	GO:043234	INF	PEX14, SOD1, PRPS1, OTX2, , DMD

Biological processes related to hypotonia according to GeneDecks:

(show all 24)

id	Name	GO ID	Score	Top Affiliating Genes
1	small molecule metabolic process	GO:044281	INF	PHKG2, COX6B1, SMS, SRD5A3, DDC, SUCLG1
2	cilium assembly	GO:042384	INF	CEP290, , TCTN2, CC2D2A, TMEM67, TMEM138
3	cellular protein metabolic process	GO:044267	INF	ALG6, ALG8, ALG9, TUBB3, ALG2, ALG12
4	post-translational protein modification	GO:043687	INF	MOGS, DPAGT1, DPM3, PMM2, RFT1, MGAT2
5	dolichol-linked oligosaccharide biosynthetic process	GO:006488	11.2	MPDU1, PMM2, DPM3, DPAGT1, ALG11, ALG12
6	peroxisome organization	GO:007031	10.9	PEX3, PEX2, PEX19, PEX16, PEX12, PEX10
7	protein import into peroxisome membrane	GO:045046	10.9	PEX5, PEX19, PEX16, PEX26, PEX3
8	protein import into peroxisome matrix	GO:016558	10.9	PEX26, PEX10, PEX12, PEX14, PEX16, PEX2
9	protein targeting to peroxisome	GO:006625	10.9	PEX12, PEX16, PEX19, PEX6, PEX5
10	muscle contraction	GO:006936	10.7	CHRND, TPM2, TPM3, CHRNE, CHRNB1, GAMT
11	carbohydrate metabolic process	GO:005975	10.7	DPM3, PCK2, PCK1, GALT, GBE1, CHST14
12	cilium morphogenesis	GO:060271	10.7	TCTN2, TCTN1, OFD1, CC2D2A, TMEM216, CEP290
13	peroxisome membrane biogenesis	GO:016557	10.5	PEX19, PEX16, PEX3
14	protein import into peroxisome matrix, translocation	GO:016561	10.5	PEX14, PEX6, PEX5
15	glucose metabolic process	GO:006006	10.3	PCK2, PCK1, ALDH5A1, PHKG2, TPI1, GAA
16	cellular nitrogen compound metabolic process	GO:034641	10.3	QDPR, ARG1, MCCC1, GPT, GLUD1, DDC
17	muscle filament sliding	GO:030049	10.1	TPM2, TPM3, TNNT1, DMD, ACTA1, TTN
18	copper ion transport	GO:006825	9.9	CP, ATP7B, ATP7A, SCO1
19	muscle organ development	GO:007517	9.5	ITGA7, LMNA, LAMA2, FKTN, GAA, NEB
20	protein N-linked glycosylation	GO:006487	INF	, ALG8, ALG6, ALG12, MGAT2, DPAGT1
21	tricarboxylic acid cycle	GO:006099	INF	SUCLG1, OGDH, , SUCLA2, IDH2, FH
22	GPI anchor biosynthetic process	GO:006506	INF	ALG9, DPM3, ALG12, PIGV,
23	protein N-linked glycosylation via asparagine	GO:018279	INF	ALG9, DOLK, , DPM3, MGAT2, ALG8
24	generation of precursor metabolites and energy	GO:006091	INF	SCO1, SLC25A3, OGDH, , PHKG2, GBE1

Molecular functions related to hypotonia according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	protein binding	GO:005515	INF	EHMT1, AHI1, ACTA1, EGR2, LTC4S, NFU1
2	4 iron, 4 sulfur cluster binding	GO:051539	INF	DPYD, ERCC2, , , NDUFV1, NFU1
3	flavin adenine dinucleotide binding	GO:050660	9.6	D2HGDH, AIFM1, MAOA, MAOB, ACADS, ACADL
4	protein C-terminus binding	GO:008022	INF	PEX6, PEX5, PEX26, PEX16, PEX12, PEX10
5	protein N-terminus binding	GO:047485	INF	, MECP2, ALG2, ERCC2, ERCC6, PEX5
6	protein homodimerization activity	GO:042803	INF	GAMT, ALDH5A1, GCH1, , KCNK9, B4GALT1