Myotonic Dystrophy malady

NIH Rare Diseases: Myotonic dystrophy is an inherited condition that affects the muscles and other body systems. It is the most common form of muscular dystrophy that begins in adulthood; usually during a person's twenties or thirties. This condition is characterized by progressive muscle loss and weakness, particularly in the lower legs, hands, neck, and face. People with myotonic dystrophy often have prolonged muscle tensing (myotonia) and are not able to relax certain muscles after use. The severity of the condition varies widely among affected people, even among members of the same family. There are two types of myotonic dystrophy: myotonic dystrophy type 1 and myotonic dystrophy type 2. The symptoms seen in patients with myotonic dystrophy type 2 tends to be milder than those observed in type 1. Although both types are inherited in an autosomal dominant pattern, they are caused by mutations in different genes. Myotonic dystrophy type 1 is caused by mutations in the DMPK gene, while mutations in the CNBP gene are responsible for myotonic dystrophy type 2.³⁰

MalaCards: Myotonic Dystrophy, also known as dystrophia myotonica, is related to myotonic dystrophy type 1 and myotonic dystrophy type 2. An important gene associated with Myotonic Dystrophy is DMPK (dystrophia myotonica-protein kinase), and among its related pathways are Cytoskeleton remodeling Fibronectin-binding integrins in cell motility and Cell adhesion Integrin-mediated cell adhesion and migration. The compounds glucose and ascorbic acid have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and smooth muscle, and related mouse phenotypes are respiratory system and endocrine/exocrine gland.

Genetics Home Reference: Myotonic dystrophy is part of a group of inherited disorders called muscular dystrophies. It is the most common form of muscular dystrophy that begins in adulthood.¹⁷

Wikipedia: Myotonic dystrophy (dystrophia myotonica, myotonia atrophica) is a chronic, slowly progressing, highly...⁴⁴ more...

OMIM: 160900

Aliases & Descriptions:

myotonic dystrophy 6 7 44 30 17 8 33 32 43 dystrophia myotonica 6 44 30 17 myotonia atrophica 44 30 17 myotonia dystrophica 44 17 steinert myotonic dystrophy syndrome (disorder) 6

steinert myotonic dystrophy syndrome 44 curschmann-batten-steinert syndrome 44 steinert's disease 6 steinert disease 44

Disease types for myotonic dystrophy family:

myotonic dystrophy type 1	myotonic dystrophy type 2

Diseases related to myotonic dystrophy by text searches and GeneDecks gene sharing:

(show top 50)    (show all 724)

id	Related Disease	Score	Top Affiliating Genes
1	myotonic dystrophy type 1	39.6	CNBP, MYOM1, CLCN1, KCNN1, KCNN3, MTMR1
2	myotonic dystrophy type 2	38.3	CNBP, CLCN1, DMPK
3	congenital myotonic dystrophy	35.9	ALB, TPM3, DMPK, ACTA1, SIX5
4	muscular dystrophy	33.3	PIK3C2A, SGCA, LMNA, MYOD1, CKM, CHKB
5	myotonia	33.0	CNBP, CLCN1, SCN4A, CHKB, MBNL1, DM1
6	duchenne muscular dystrophy	30.6	PIK3C2A, SGCA, MYOZ2, MYOD1, CKM, CHKB
7	spinal-bulbar muscular atrophy	30.6	CHKB, ATXN3, ATXN1, AR, DMPK
8	dysphagia	30.2	PIK3C2A, ATXN3, ATXN1, ALB, RPS27A
9	huntington's disease	30.0	ATXN3, ATXN1, AR, MAPT, AKT1, SP1
10	spinocerebellar ataxia type 3	29.7	S100B, ATXN3, ATXN1, AR, APOE, ENO2
11	oculopharyngeal muscular dystrophy	29.6	MYOD1, BCL2, HNRNPC, RPS27A, MYH7
12	cholelithiasis	29.4	CD40LG, AR, INS, APOE, MBNL1, ADIPOQ
13	muscular atrophy	28.7	LMNA, BCL2, CHKB, CFL1, ATXN3, ATXN1
14	hearing loss	28.7	SGCA, MYO1A, CLCN1, SCN4A, MT-ND5, APOE
15	cataract	28.1	CNBP, VIM, LMNA, CLCN1, SCN4A, LEP
16	thymoma	27.9	PIK3C2A, VIM, RAF1, BCL2, CHKB, ENO2
17	glucose intolerance	27.9	GCG, LEP, INS, INSR, APOC2, IGFBP3
18	hypogonadism	27.6	LMNA, CLCN1, SCN4A, LEP, AR, INS
19	hypoaldosteronism	27.5	REN, INS, IL6, ACE, POMC
20	sleep disorder	27.3	CNBP, LEP, INS, IL6, APOE, ALB
21	myasthenia gravis	27.0	MYOZ2, BCL2, CHKB, CD40LG, AR, INS
22	fibromyalgia	26.8	CNBP, CHKB, INS, IL6, APOE, IGFBP3
23	ataxia	26.3	PCBP2, VIM, BCL2, KCNN1, KCNN3, ZCCHC13
24	hypopituitarism	25.8	GCG, LEP, INS, IL6, IGFBP3, IGF1
25	insulin resistance	25.7	REN, CNBP, GCG, LMNA, MYOG, MYOD1
26	myopathy	25.5	PIK3C2A, SGCA, CNBP, VIM, LMNA, MYOG
27	hypertrophic cardiomyopathy	24.9	PIK3C2A, REN, SGCA, LMNA, MYOZ2, RAF1
28	hyperthyroidism	24.9	PIK3C2A, REN, LEP, CHKB, INS, INSR
29	hypoglycemia	24.6	GCG, VIM, CKB, LEP, CHKB, CDKN1C
30	blindness	22.8	PIK3C2A, REN, CNBP, GCG, LEP, CHKB
31	neuronitis	18.0	PIK3C2A, REN, SGCA, SFPQ, GCG, RBMY1A1
32	congenital fiber-type disproportion	14.2	INSR, TPM3, ACTA1, RYR1
33	rhabdomyolysis, cerivastatin-induced	14.1	PIK3C2A, CKM, CHKB, DMD, RYR1
34	centronuclear myopathy	14.1	BIN1, CHKB, MTMR1, INSR, DMD, RYR1
35	muscle disorders	14.1	BIN1, CLCN1, CHKB, MAPT, RYR1
36	nemaline myopathy	14.1	TPM3, TNNT1, TNNT3, ACTA1, RYR1
37	myopathy congenital	14.0	MYOG, CHKB, DMD, RPS27A, ACTA1, RYR1
38	compartment syndrome	14.0	PIK3C2A, CHKB, ALB, TNF
39	neuromuscular disease	14.0	LMNA, SCN4A, CHKB, AR, DMD, DMPK
40	distal muscular dystrophy	14.0	CHKB, LDB3, DMD, MYH7
41	conduction disease	14.0	PIK3C2A, LMNA, DMPK, SIX5
42	creatine phosphokinase	14.0	PIK3C2A, CKM, CHKB, SOD1, GGT1
43	corticobasal degeneration	14.0	CFL1, MAPT, HSPB2, RPS27A, HCRT
44	albinism	13.9	GCG, AR, ALB, HSPA9, HCRT, HCRTR1
45	x-linked spinal-bulbar muscle atrophy	13.9	CLCN1, AR, SOD1
46	pandas	13.9	PCBP2, CDKN2A, CD40LG, AR, ENO2, MAPT
47	neuroleptic malignant syndrome	13.9	PIK3C2A, CHKB, POMC, RYR1
48	bacterial meningitis	13.9	PIK3C2A, CKB, S100B, ALB, TNF, SOD1
49	olivopontocerebellar atrophy	13.9	ATXN3, ATXN1, FMR1, MAPT, RPS27A, PRKCG
50	alpha 1-antitrypsin deficiency	13.9	CKB, CHKB, ENO2, MYH7

Clinical features from OMIM: 160900

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to myotonic dystrophy:

²²

MGI Mouse Phenotypes related to myotonic dystrophy:

²⁵ (show all 24)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	respiratory system phenotype	MP:0005388	10.5	ATXN1, INSR, APOE, CAPNS1, DMD, CRH
2	endocrine/exocrine gland phenotype	MP:0005379	10.3	GHRH, DMD, SPEN, SIX5, GGT1, FMR1
3	hematopoietic system phenotype	MP:0005397	9.7	E2F1, SPEN, DMD, CAPNS1, ATP1A3, BCL2
4	embryogenesis phenotype	MP:0005380	9.2	HNRNPC, SP1, CTNNB1, PRL, ROCK2, WNK1
5	limbs/digits/tail phenotype	MP:0005371	8.8	DTNA, DMD, SP1, CTNNB1, DHCR7, RYR1
6	liver/biliary system phenotype	MP:0005370	8.4	ACTA1, DHCR7, PRL, OPA3, SOD1, EFS
7	renal/urinary system phenotype	MP:0005367	8.3	APOE, MAPT, HSPA5, TNFRSF1B, DMD, CTNNB1
8	normal phenotype	MP:0002873	8.2	HSPA5, AKT1, DMD, DMPK, CRH, PDLIM3
9	reproductive system phenotype	MP:0005389	8.1	IL6, HSPA5, AKT1, GH1, GHRH, TNF
10	digestive/alimentary phenotype	MP:0005381	8.0	INS, INSR, APOE, HSPB2, DMD, CTNNB1
11	integument phenotype	MP:0010771	8.0	BIN1, CLCN1, BCL2, S100B, CFL1, MSH6
12	nervous system phenotype	MP:0003631	7.7	SLITRK1, WNK1, E2F1, REN, CNBP, LMNA
13	skeleton phenotype	MP:0005390	7.4	TNFRSF1B, AKT1, HSPB2, IGF1, MBNL2, DTNA
14	immune system phenotype	MP:0005387	7.4	PVR, DSTN, RHOC, CRH, SPEN, PRKCG
15	mortality/aging	MP:0010768	6.7	PIK3C2A, REN, CNBP, GCG, LMNA, MYOG
16	vision/eye phenotype	MP:0005391	6.4	RHOB, CTNNB1, SP1, DMD, TNFRSF1B, TNF
17	adipose tissue phenotype	MP:0005375	5.9	ACE, DMD, TNFRSF1B, TNF, GH1, ACTA1
18	tumorigenesis	MP:0002006	5.8	TNFRSF1B, CTNNB1, RHOB, RHOC, ACE, PVR
19	muscle phenotype	MP:0005369	5.5	OPA3, SOD1, SLC18A3, RYR1, ROCK1, SIX5
20	behavior/neurological phenotype	MP:0005386	5.4	BIN1, CLCN1, SCN4A, CKB, LEP, CIT
21	growth/size phenotype	MP:0005378	4.8	SPEN, E2F1, GGT1, MYL2, ADIPOQ, WNK1
22	cellular phenotype	MP:0005384	4.3	CRH, CTNNB1, SPEN, DMD, TNFRSF1B, TNF
23	homeostasis/metabolism phenotype	MP:0005376	4.0	PRL, MYL2, GGT1, E2F1, PRKCA, OPA3
24	cardiovascular system phenotype	MP:0005385	4.0	PRKCA, OPA3, SOD1, POMC, RYR1, ROCK1

Articles related to myotonic dystrophy:

(show top 50)    (show all 356)

id	Title	Authors	Year	Affiliating Genes
1	Alternative splicing of PDLIM3/ALP, for I+-actinin-ass ociated LIM protein 3, is aberrant in persons with myotonic dystrophy. (21549096)	Ohsawa N.... Ishiura S.	2011	PDLIM3
2	Decreased concentration of adiponectin together with a selective reduction of its high molecular weight oligomers is involved in met abolic complications of myotonic dystrophy type 1. (21964963)	Daniele A.... Di Costanzo A.	2011	ADIPOQ
3	Congenital myotonic dystrophy can show congenital fib er type disproportion pathology. (20179953)	Tominaga K.... Nishino I.	2010	ACTA1, TPM3
4	Haplotype analysis of the myotonic dystrophy type 1 ( DM1) locus in the Korean population. (20421627)	Kwon M.J.... Ki C.S.	2010	DMPK
5	Mutant (CCTG)n expansion causes abnormal expression o f zinc finger protein 9 (ZNF9) in myotonic dystrophy type 2. (20971734)	Raheem O.... Krahe R.	2010	CNBP
6	Analysis of MTMR1 expression and correlation with mus cle pathological features in juvenile/adult onset myotonic dystrophy type 1 (DM 1) and in myotonic dystrophy type 2 (DM2). (20685272)	Santoro M.... Silvestri G.	2010	DMPK, MTMR1
7	Myotonic dystrophy protein kinase (DMPK) and its role in the pathogenesis of myotonic dystrophy 1. (18583094)	Kaliman P.... Llagostera E.	2008	DMPK
8	Myotonic dystrophy type 2 in Japan: ancestral origin distinct from Caucasian families. (18057971)	Saito T.... Matsuura T.	2008	CNBP
9	CTG repeat instability in a human embryonic stem cell line carrying the myotonic dystrophy type 1 mutation. (18577525)	De Temmerman N.... Sermon K.D.	2008	DMPK
10	Characterization of the interaction of phorbol esters with the C1 domain of MRCK (myotonic dystrophy kinase-related Cdc42 binding kinase) alpha/beta. (18263588)	Choi S.H.... Blumberg P.M.	2008	RASGRP1, CDC42BPA, CDC42BPB
11	Analysis of Single Nucleotide Polymorphisms (SNPs) of the small-conductance calcium activated potassium channel (SK3) gene as geneti c modifier of the cardiac phenotype in myotonic dystrophy type 1 patients. (19472917)	Rinaldi F.... Novelli G.	2008	KCNN3, KCNN1
12	Myotonic dystrophy type 1 coexisting with myasthenia gravis and thymoma. (18563724)	Feyma T.... Weiss M.D.	2008	DMPK
13	MBNL binds similar RNA structures in the CUG repeats of myotonic dystrophy and its pre-mRNA substrate cardiac troponin T. (17942744)	Warf M.B.... Berglund J.A.	2007	MBNL1
14	Rhabdomyolysis caused by tocolysis with oral ritodrine hydrochloride in a pregnant patient with myotonic dystrophy. (16192734)	Nasu K.... Narahara H.	2006	PIK3C2A
15	Myotonic dystrophies. (16265841)	Huang C.C.... Kuo H.C.	2005	CNBP
16	Presence of palmar xanthomas in myotonic dystrophy identifies different patterns of linkage disequilibrium between the apolipoprotein E and myotonic dystrophy protein kinase loci. (15775763)	Brisson D.... Gaudet D.	2005	APOE
17	Cytoplasmic and nuclear retained DMPK mRNAs are targets for RNA interference in myotonic dystrophy cells. (15722335)	Langlois M.A.... Lee N.S.	2005	DMPK
18	Decreased expression of DMPK: correlation with CTG repeat expansion and fibre type composition in myotonic dystrophy type 1. (16193250)	Salvatori S.... Angelini C.	2005	DMPK
19	Psychosocial impact of predictive testing for myotonic dystrophy type 1. (15039975)	Prevost C.... Mathieu J.	2004	DMPK, DM1
20	Homozygosity for CCTG mutation in myotonic dystrophy type 2. (15231584)	Schoser B.G.... Ricker K.	2004	CNBP
21	CTG repeat number at the myotonic dystrophy locus in healthy Kuwaiti individuals: possible explanation of why myotonic dystrophy is rare in Kuwait. (15210527)	Alfadhli S.... Al-Awadi S.	2004	DMPK, DM1
22	A pedigree with myotonic dystrophy: non-CTG, non-CCTG repeat expansion (15476170)	Zhao X.P.... Tang G.M.	2004	DMPK, CNBP
23	Viral vector producing antisense RNA restores myotonic dystrophy myoblast functions. (12704419)	Furling D.... Puymirat J.	2003	DMPK, CELF1
24	Myotonic dystrophy type 2: human founder haplotype and evolutionary conservation of the repeat tract. (14505273)	Liquori C.L.... Ranum L.P.	2003	CNBP
25	Overexpression of human myotonic dystrophy protein kinase in Schizosaccharomyces pombe induces an abnormal polarized and swollen cell morphology. (14607980)	Sasagawa N.... Ishiura S.	2003	DMPK
26	Changes in myotonic dystrophy protein kinase levels and muscle development in congenital myotonic dystrophy. (12598332)	Furling D.... Morris G.E.	2003	DMPK
27	Instability of a premutation allele in homozygous pat ients with myotonic dystrophy type 1. (12325072)	Abbruzzese C.... Giacanelli M.	2002	DMPK
28	Myotonic dystrophy protein kinase (DMPK) gene expression in lymphocytes of patients with myotonic dystrophy. (11343809)	Depardon F.... Montanez C.	2001	DMPK
29	Eight years' experience of direct molecular testing for myotonic dystrophy in Wales. (11748308)	Fokstuen S.... Harper P.S.	2001	DMPK
30	Presymptomatic testing in myotonic dystrophy: genetic counselling approaches. (11768386)	Fokstuen S.... Harper P.S.	2001	DMPK
31	Dysregulation of human brain microtubule-associated tau mRNA maturation in myotonic dystrophy type 1. (11590131)	Sergeant N.... Delacourte A.	2001	MAPT
32	Decreased levels of myotonic dystrophy protein kinase (DMPK) and delayed differentiation in human myotonic dystrophy myoblasts. (11595515)	Furling D.... Puymirat J.	2001	DMPK
33	Intermolecular and intramolecular interactions regulate catalytic activity of myotonic dystrophy kinase-related Cdc42-binding kinase alpha. (11283256)	Tan I.... Leung T.	2001	MYL9, CDC42BPA
34	Myotonic dystrophy and myotonic dystrophy protein kinase. (11064921)	Ueda H.... Kobayashi T.	2000	DMPK
35	Expression of the myotonic dystrophy locus-associated homeodomain protein in congenital myotonic dystrophy. (10573472)	Tachi N.... Chiba S.	1999	SIX5
36	Elongation of (CTG)n repeats in myotonic dystrophy protein kinase gene in tumors associated with myotonic dystrophy patients. (10454725)	Jinnai K.... Takahashi K.	1999	DMPK
37	Myotonic dystrophy is associated with a reduced level of RNA from the DMWD allele adjacent to the expanded repeat. (10400997)	Alwazzan M.... Brook J.D.	1999	DMPK, DMWD
38	ETR-1, a homologue of a protein linked to myotonic dystrophy, is essential for muscle development in Caenorhabditis elegans. (10556089)	Milne C.A.... Hodgkin J.	1999	DMPK, CELF1, SUGP1
39	Characterization of the expression of DMPK and SIX5 in the human eye and implications for pathogenesis in myotonic dystrophy. (9949207)	Winchester C.L.... Johnson K.J.	1999	DMPK, SIX5
40	Decreased expression of myotonic dystrophy protein kinase and disorganization of sarcoplasmic reticulum in skeletal muscle of myotonic dystrophy. (10064167)	Ueda H.... Kobayashi T.	1999	DMPK
41	MKBP, a novel member of the small heat shock protein family, binds and activates the myotonic dystrophy protein kinase. (9490724)	Suzuki A.... Ohno S.	1998	DMPK, HSPB2
42	Altered phosphorylation and intracellular distribution of a (CUG)n triplet repeat RNA-binding protein in patients with myotonic dystrophy and in myotonin protein kinase knockout mice. (9371827)	Roberts R.... Timchenko L.T.	1997	DMPK, CELF1
43	Myotonic dystrophy kinase modulates skeletal muscle but not cardiac voltage-gated sodium channels. (9276478)	Chahine M.... George A.L.	1997	DMPK
44	Oligosaccharide abnormalities and expansion of the CTG repeat of MT-PK gene in patients with myotonic dystrophy (9436441)	Ito K.... Takano A.	1997	DMPK
45	Myotonic dystrophy: antisense oligonucleotide inhibit ion of DMPK gene expression in vitro. (8630033)	Galderisi U.... Cascino A.	1996	DMPK
46	Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues. (7896884)	Taneja K.L.... Singer R.H.	1995	DMPK
47	Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy. (8469976)	Fu Y.-H.... Caskey C.T.	1993	DMPK
48	Absence of myotonic dystrophy protein kinase (DMPK) mRNA as a result of a triplet repeat expansion in myotonic dystrophy. (8288237)	Carango P.... Funanage V.L.	1993	DMPK
49	Central nervous system disorders in myotonic dystrophy--with special reference to neuron-specific enolase, S-100b protein and creatine kinase BB isoenzyme levels in CSF (1424333)	Yoneyama S.... Kato K.	1992	S100B, ENO2
50	The human ryanodine receptor gene: its mapping to 19q13.1, placement in a chromosome 19 linkage group, and exclusion as the gene causing myotonic dystrophy. (1971150)	Mackenzie A.E.... Willard H.F.	1990	RYR1

Genes related to myotonic dystrophy according to GeneCards:

(show top 50)    (show all 153)

id	Symbol	Description	Score	GeneCards Section Context
1	DMPK	dystrophia myotonica-protein kinase	11.1	Summaries, Orthologs, Domains & Families, Publications (show all 5 sections) Aliases & Descriptions
2	CDC42BPA	CDC42 binding protein kinase alpha (DMPK-like)	11.1	Summaries, Publications, Orthologs, Domains & Families (show all 5 sections) Aliases & Descriptions
3	CDC42BPB	CDC42 binding protein kinase beta (DMPK-like)	11.1	Orthologs, Summaries, Aliases & Descriptions, Functions (show all 6 sections) Domains & Families, Publications
4	CDC42BPG	CDC42 binding protein kinase gamma (DMPK-like)	11.1	Publications, Orthologs, Aliases & Descriptions, Domains & Families
5	CNBP	CCHC-type zinc finger, nucleic acid binding protein	11.1	Summaries, Orthologs, Publications
6	CELF1	CUGBP, Elav-like family member 1	11.1	Functions, Orthologs, Summaries, Publications
7	MBNL3	muscleblind-like splicing regulator 3	11.1	Summaries, Functions, Publications
8	MBNL2	muscleblind-like splicing regulator 2	11.1	Summaries, Functions, Publications
9	FXYD1	FXYD domain containing ion transport regulator 1	11.1	Summaries, Publications
10	PDLIM3	PDZ and LIM domain 3	11.1	Summaries, Publications
11	CAPNS1	calpain, small subunit 1	11.1	Summaries
12	SIX5	SIX homeobox 5	11.0	Publications, Functions
13	CLCN1	chloride channel, voltage-sensitive 1	11.0	Publications
14	MBNL1	muscleblind-like splicing regulator 1	11.0	Publications
15	INSR	insulin receptor	11.0	Publications
16	TSPAN7	tetraspanin 7	11.0	Summaries
17	MTMR1	myotubularin related protein 1	11.0	Publications
18	ATP2A1	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	11.0	Publications
19	HCRT	hypocretin (orexin) neuropeptide precursor	11.0	Publications
20	KCNN3	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	11.0	Publications
21	CHKB	choline kinase beta	11.0	Publications
22	RYR1	ryanodine receptor 1 (skeletal)	11.0	Publications
23	MAPT	microtubule-associated protein tau	11.0	Publications
24	DM1	dystrophia myotonica 1 (includes dystrophia myotonia protein kinase)	11.0	Publications
25	MIR206	microRNA 206	11.0	Publications
26	DMWD	dystrophia myotonica, WD repeat containing	11.0	UniProt Related, Publications
27	ZCCHC13	zinc finger, CCHC domain containing 13	11.0	Orthologs
28	CKM	creatine kinase, muscle	11.0	Publications
29	ECH1	enoyl CoA hydratase 1, peroxisomal	11.0	Publications
30	TPM3	tropomyosin 3	11.0	Publications
31	KCNN1	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1	11.0	Publications
32	HCRTR1	hypocretin (orexin) receptor 1	11.0	Publications
33	HSPB2	heat shock 27kDa protein 2	11.0	Publications
34	MYOG	myogenin (myogenic factor 4)	11.0	Publications
35	ATP2A3	ATPase, Ca++ transporting, ubiquitous	11.0	Publications
36	ACTA1	actin, alpha 1, skeletal muscle	11.0	Publications
37	HCRTR2	hypocretin (orexin) receptor 2	11.0	Publications
38	HSPA9	heat shock 70kDa protein 9 (mortalin)	11.0	Publications
39	MYOM1	myomesin 1, 185kDa	11.0	Publications
40	PCBP2	poly(rC) binding protein 2	11.0	Publications
41	RHOD	ras homolog family member D	11.0	Publications
42	MYH7	myosin, heavy chain 7, cardiac muscle, beta	11.0
43	ATP2A2	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	11.0	Publications
44	CELF2	CUGBP, Elav-like family member 2	11.0	Publications, Orthologs
45	MYOD1	myogenic differentiation 1	11.0	Publications
46	FMR1	fragile X mental retardation 1	11.0	Publications
47	RAC1	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	11.0	Publications
48	PIK3C2A	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	11.0	Publications
49	HSPA5	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	11.0	Publications
50	DTNA	dystrobrevin, alpha	11.0	Publications

Pathways related to myotonic dystrophy according to GeneDecks:

(show top 50)    (show all 140)

id	Pathway	Score	Top Affiliating Genes
1	Cytoskeleton remodeling Fibronectin-binding integrins in cell motility10	10.7	CDC42, LIMK2, LIMK1
2	Cell adhesion Integrin-mediated cell adhesion and migration10	10.5	MYL2, MYH7, ROCK2, ROCK1, RHOA, LIMK2
3	Development MAG-dependent inhibition of neurite outgrowth10	10.5	MYH7, ROCK2, ROCK1, RHOA, PPP1R12A, CFL1
4	Cytoskeleton remodeling Slit-Robo signaling10	10.5	ACTA1, ROCK1, ROCK2, LIMK1, CFL1, CDC42
5	Development_MAG-dependent inhibition of neurite outgrowth41	10.5	MYH7, ROCK1, DSTN, ROCK2, RHOA, PPP1R12A
6	Development_Slit-Robo signaling41	10.4	CDC42, CFL1, LIMK1, MAPT, RHOA, ACTA1
7	Cell adhesion_Integrin-mediated cell adhesion and migration41	10.4	MYH7, RAC1, LIMK1, LIMK2, MYL2, ROCK2
8	EphrinA-EphR Signaling36	10.4	ROCK2, PAK1, LIMK2, LIMK1, RAC1, CDC42
9	Cytoskeleton remodeling_Fibronectin-binding integrins in cell motility41	10.3	PAK1, LIMK1, RAC1, CDC42, CFL1, RHOA
10	Cytoskeleton remodeling_Regulation of actin cytoskeleton by Rho GTPases41	10.3	RAC1, MYL2, LIMK1, ROCK2, ROCK1, LIMK2
11	Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases10	10.3	MYH7, ROCK1, ACTA1, RHOA, PPP1R12A, CDC42
12	Semaphorin Signaling36	10.3	ROCK1, ROCK2, CFL1, PAK1, LIMK2, LIMK1
13	Cytoskeleton remodeling CDC42 in cellular processes10	10.2	CDC42, CDC42BPA, LIMK1, CFL1, PAK1, LIMK2
14	Cytoskeleton remodeling_CDC42 in cellular processes41	10.2	CDC42BPA, CFL1, PAK1, CDC42, LIMK2, LIMK1
15	Cytoskeleton remodeling_Role of PKA in cytoskeleton reorganisation41	10.2	ROCK2, RAC1, ROCK1, RHOA, PPP1R12A, CDC42
16	Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation10	10.2	RAC1, LIMK1, PAK1, CDC42, PPP1R12A, RHOA
17	Neurophysiological process Receptor-mediated axon growth repulsion10	10.2	RAC1, PAK1, DSTN, LIMK1, LIMK2, CFL1
18	Neurophysiological process_Receptor-mediated axon growth repulsion41	10.2	RAC1, PAK1, CFL1, CDC42, LIMK1, RHOA
19	Dilated cardiomyopathy20	10.1	SGCA, LMNA, ATP2A2, IGF1, TPM3, TNF
20	G-protein signaling G-Protein alpha-12 signaling pathway10	9.9	RAC1, ROCK1, RHOA, CDC42, ROCK2, RAF1
21	Internalin Pathway36	9.9	LIMK2, ACTA1, RAC1, LIMK1, PAK1, CFL1
22	Breast Cancer Regulation by Stathmin136	9.9	PAK1, LIMK2, LIMK1, RAC1, CDC42, E2F1
23	Immune response CCR3 signaling in eosinophils10	9.9	LIMK2, PAK1, CFL1, PPP1R12A, RHOA, PRKCA
24	Immune response _CCR3 signaling in eosinophils41	9.9	MYL2, MYH7, ROCK2, ROCK1, PRKCA, PPP1R12A
25	G-protein signaling_G-Protein alpha-12 signaling pathway41	9.9	RAC1, RAF1, ROCK2, LIMK1, PAK1, CDC42
26	CCR3 Pathway in Eosinophils36	9.8	PAK1, LIMK1, RAF1, RAC1, LIMK2, PRKCA
27	RhoA Pathway36	9.8	CIT, CHN1, CFL1, IGF1, PPP1R12A, ACTA1
28	Cytoskeletal Signaling3	9.8	VIM, LMNA, ROCK1, PPP1R12A, TESK1, CDC42
29	Wnt Signaling Pathway37	9.7	PRKCG, PRKCB, PRKCA, ROCK1, ROCK2, RHOC
30	Leukocyte transendothelial migration20	9.7	RAC1, CDC42, CTNNB1, RHOA, PRKCG, PRKCB
31	Development_VEGF signaling via VEGFR2 - generic cascades41	9.7	RAC1, RAF1, PRKCG, PRKCA, RHOA, CTNNB1
32	Adipocytokines & Insulin Signaling37	9.6	INS, LEP, PRKCA, RHOQ, PRKCG, ADIPOQ
33	Actin-Based Motility by Rho Family GTPases36	9.6	ROCK2, ACTA1, PPP1R12A, GH1, IGF1, PAK1
34	Regulation of actin cytoskeleton20	9.5	INS, CDC42, PAK1, LIMK2, LIMK1, PPP1R12A
35	Fc gamma R-mediated phagocytosis20	9.4	PRKCB, PRKCA, CDC42, CFL1, PAK1, LIMK2
36	Tight junction20	9.2	MYL2, MYH7, PRKCG, SYMPK, RHOA, CTNNB1
37	Development_Prolactin receptor signaling41	9.1	RAC1, PRL, GH1, RHOA, SP1, AKT1
38	Development Prolactin receptor signaling10	9.1	RAC1, PRL, RHOA, SP1, GH1, AKT1
39	Hypertrophic cardiomyopathy (HCM)20	9.0	ATP2A2, IL6, LMNA, MYL2, MYH7, SGCA
40	Focal adhesion20	8.7	AKT1, MYL2, ROCK1, PRKCA, PRKCG, RHOA
41	Transcription Role of VDR in regulation of genes involved in osteoporosis10	8.7	PRKCA, PRKCB, PRKCG, TNF, IGF1, APOE
42	Pathways in cancer20	8.5	CTNNB1, RAC1, E2F1, PRKCA, PRKCB, PRKCG
43	Glioma20	8.5	E2F1, PRKCB, PRKCG, IGF1, AKT1, RAF1
44	Rho Family GTPases36	8.2	IGF1, GHRH, RAF1, CIT, CFL1, CDC42
45	ILK Signaling36	8.2	GHRH, TNF, TESK1, CTNNB1, ACTA1, MYH7
46	Activation of cAMP-Dependent PKA36	8.0	ROCK2, MYL2, ROCK1, PRKCA, PPP1R12A, GHRH
47	PAK Pathway36	8.0	PPP1R12A, ROCK1, ACTA1, LIMK2, LIMK1, RAC1
48	Prostate cancer20	7.9	E2F1, INS, RAF1, IGF1, BCL2, CTNNB1
49	GPCR Pathway36	7.5	ROCK1, GH1, PRKCA, PRKCG, GHRH, AKT1
50	Molecular Mechanisms of Cancer36	7.3	PRKCA, E2F1, RASGRP1, PRKCG, CTNNB1, TNFRSF1B

Compounds related to myotonic dystrophy according to GeneDecks:

(show top 50)    (show all 312)

id	Compound	Score	Top Affiliating Genes
1	glucose32	10.5	GCG, MYOG, MYOD1, PAK1, CKB, CKM
2	ascorbic acid32 18	10.9	MYOG, RAF1, RAC1, CHKB, S100B, CD40LG
3	threonine32	9.7	MYOD1, RAF1, LIMK1, LIMK2, SCN4A, MT-ND5
4	h2o232	9.7	KCNN3, LEP, ATP2A3, INSR, APOE, MAPT
5	n acetylcysteine32	9.7	RAF1, CDKN2A, AR, APOE, MAPT, CTNNB1
6	dopamine32 9 18 9	12.3	REN, GCG, RAF1, CHKB, S100B, CDKN2A
7	lovastatin32 42 9 9	12.3	PIK3C2A, LMNA, RAF1, RAC1, CHKB, CDK2
8	atp32	9.2	PIK3C2A, CNBP, LMNA, MYO1A, MYOD1, RAC1
9	ly29400232	9.0	PIK3C2A, GCG, MYOG, PAK1, LEP, CDC42
10	epinephrine32 9 18 9	11.9	PIK3C2A, REN, GCG, LEP, CHKB, INS
11	cysteine32	8.8	GCG, MYOG, RAF1, RAC1, CKM, CHN1
12	cocaine32 9 9	10.7	PIK3C2A, GCG, VIM, LEP, CHKB, S100B
13	calcium32 9 18 9	11.7	PIK3C2A, REN, LMNA, MYL9, MYOG, MYOZ2
14	guanine32 9 18 9	11.4	GCG, MYOD1, RAF1, RAC1, CDK2, CDC42
15	adp32 18	9.4	PIK3C2A, MYO1A, RAF1, RAC1, LIMK1, LIMK2
16	rapamycin32 42	9.3	GCG, VIM, MYOG, RAF1, CDK2, FMR1
17	glycerol32 9 18 9	11.3	PIK3C2A, GCG, LEP, CHKB, CDK2, INS
18	adenylate32	8.0	GCG, VIM, MYOG, PABPC1, CKM, CHKB
19	acetylcholine32 9 18 9	10.9	PIK3C2A, GCG, VIM, MYOG, MYOZ2, MYOD1
20	valine32	7.9	VIM, RAF1, RAC1, SCN4A, MT-ND5, S100B
21	thyroxine32 18	8.9	PIK3C2A, REN, LEP, CHKB, CD40LG, INS
22	aspartate32	7.8	PIK3C2A, VIM, RAF1, CKB, CHKB, S100B
23	testosterone32 9 18 9	10.8	PIK3C2A, SFPQ, VIM, MYOG, MYOD1, RAF1
24	doxorubicin32 34 9 9	10.8	PIK3C2A, VIM, RAF1, BCL2, MSH6, CDK2
25	glutamate32	7.7	GCG, VIM, PAK1, CKM, LEP, CDK2
26	acth32	7.6	PIK3C2A, REN, LEP, CDKN1C, INS, IL6
27	gnrh32	7.5	GCG, VIM, RAF1, LEP, AR, INS
28	metformin32 34 9 9	10.2	GCG, LEP, INS, INSR, IGF1, F5
29	actinomycin d32	7.1	VIM, MYOD1, BCL2, CDK2, CDKN2A, CD40LG
30	glutamine32	7.1	GCG, VIM, RAF1, KCNN1, KCNN3, CKB
31	arginine32	7.1	PIK3C2A, REN, CNBP, GCG, MYOD1, RAC1
32	genistein32 9 18 9	10.1	GCG, VIM, RAF1, RAC1, BCL2, CDK2
33	sb 20358032 42	8.0	GCG, VIM, RAF1, RAC1, BCL2, CDC42
34	vitamin d32	7.0	VIM, CKB, CHKB, CDK2, AR, INSR
35	wortmannin32 42	7.9	PIK3C2A, GCG, VIM, RAF1, RAC1, PAK1
36	indomethacin32 9 9	8.9	REN, GCG, VIM, RAF1, LEP, CDK2
37	alanine32	6.8	PIK3C2A, GCG, LMNA, MYOD1, RAF1, PAK1
38	estrogen32	6.8	GCG, MYOG, MYOD1, RARG, RAF1, BIN1
39	norepinephrine32 9 18 9	9.7	PIK3C2A, REN, GCG, LEP, CHKB, S100B
40	creatinine32	6.6	REN, SGCA, GCG, LMNA, MYOG, MYOZ2
41	pd 98,05932	6.6	GCG, MYOG, RAF1, RAC1, PAK1, BCL2
42	cholesterol32 9 18 9	9.2	PIK3C2A, REN, CNBP, LMNA, RAC1, LEP
43	lipid32	6.0	PIK3C2A, GCG, VIM, LMNA, MYOG, MYO1A
44	tyrosine32	5.9	PIK3C2A, PCBP2, MYOG, MYOZ2, MYOD1, RAF1
45	tamoxifen32 34 9 9	8.7	VIM, RAF1, PAK1, BCL2, CKB, LEP
46	cycloheximide32	5.4	GCG, VIM, RAF1, RAC1, BCL2, CKB
47	retinoic acid32 42 18	7.4	VIM, LMNA, MYOG, MYOD1, RARG, RAF1
48	dexamethasone32 42 34 9 9	8.8	REN, VIM, RAF1, BCL2, LEP, CHKB
49	vegf32	4.7	PIK3C2A, REN, GCG, VIM, MYOG, MYOD1
50	serine32	3.8	SFPQ, GCG, VIM, LMNA, MYOG, MYO1A

Cellular components related to myotonic dystrophy according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	sarcoplasmic reticulum membrane	GO:033017	10.7	RYR1, DMPK, ATP2A2, ATP2A1, ATP2A3
2	sarcoplasmic reticulum	GO:016529	10.5	RYR1, PLN, ATP2A2, ATP2A1, ATP2A3
3	cell leading edge	GO:031252	10.3	VIM, CDC42BPB, CDC42BPA, CDC42BPG
4	protein complex	GO:043234	9.9	SOD1, PRKCA, PLN, DMD, DTNA, ALB
5	Z disc	GO:030018	9.4	MYH7, PDLIM3, LDB3, PAK1, MYOZ2, MYL9
6	nucleoplasm	GO:005654	8.7	SUGP1, HNRNPH1, HNRNPC, AKT1, SP1, SNRPA
7	plasma membrane	GO:005886	7.3	ACE, RHOQ, RHOD, RHOC, RHOB, RHOA
8	cytosol	GO:005829	6.8	MYL2, RPS27A, CTNNB1, DMPK, DMD, TESK1
9	cytoplasm	GO:005737	6.6	HSPA9, HSPB2, CAPNS1, AKT1, HNRNPH1, MBNL2
10	extracellular space	GO:005615	6.6	GH1, GHRH, TNF, CRH, ACE, PVR

Biological processes related to myotonic dystrophy according to GeneDecks:

(show all 29)

id	Name	GO ID	Score	Top Affiliating Genes
1	muscle contraction	GO:006936	10.9	MYH7, RYR1, ACTA1, TPM3, FXYD1, SCN4A
2	regulation of RNA splicing	GO:043484	10.9	HNRNPH1, MBNL3, MBNL2, MBNL1, CELF1
3	skeletal muscle fiber development	GO:048741	10.8	RYR1, ACTA1, MYOD1, MYOG
4	Rho protein signal transduction	GO:007266	10.6	ROCK1, RHOD, RHOB, RHOA, CFL1, LIMK1
5	muscle filament sliding	GO:030049	10.6	MYL2, MYH7, ACTA1, DMD, TNNT3, TNNT1
6	regulation of small GTPase mediated signal transduction	GO:051056	10.4	RHOQ, RHOD, RHOC, RHOB, RHOA, CDC42
7	RNA splicing	GO:008380	10.4	SNRPA, SUGP1, HNRNPH1, HNRNPC, MBNL3, MBNL2
8	muscle cell differentiation	GO:042692	10.3	CTNNB1, CDC42, BIN1, MYOD1, MYOG
9	actin cytoskeleton organization	GO:030036	10.3	ROCK2, ROCK1, RHOA, TESK2, CDC42, ATXN3
10	cellular calcium ion homeostasis	GO:006874	10.1	PRKCA, PRKCB, PLN, DMPK, FXYD1, ATP2A2
11	synaptic transmission	GO:007268	9.9	HCRTR2, PRKCG, PRKCB, PRKCA, SLC18A3, HCRTR1
12	axon guidance	GO:007411	9.8	RHOB, RHOC, ROCK1, ROCK2, RHOA, CDC42
13	intracellular signal transduction	GO:035556	9.8	EFS, ROCK2, PRKCA, PRKCB, PRKCG, AKT1
14	positive regulation of insulin-like growth factor receptor signaling pathway	GO:043568	9.7	GHRH, GH1, IGF1, IGFBP3, AR
15	platelet degranulation	GO:002576	9.7	CFL1, IGF1, F5, ALB, HSPA5, SOD1
16	positive regulation of glucose import	GO:046326	9.6	ADIPOQ, RHOQ, AKT1, IGF1, INSR, INS
17	positive regulation of glycogen biosynthetic process	GO:045725	9.4	AKT1, IGF1, INSR, INS
18	protein phosphorylation	GO:006468	9.2	DMPK, PRKCG, PRKCB, PRKCA, ROCK1, ROCK2
19	response to hypoxia	GO:001666	9.2	ADIPOQ, RYR1, RHOC, TNF, LEP, BCL2
20	response to ethanol	GO:045471	9.2	ADIPOQ, SOD1, PRKCA, RHOC, INSR, BCL2
21	anti-apoptosis	GO:006916	9.0	SOD1, RPS27A, TNF, AKT1, HSPA9, HSPA5
22	positive regulation of peptidyl-serine phosphorylation	GO:033138	8.6	TNF, AKT1, IL6, CDC42, BCL2, PAK1
23	blood coagulation	GO:007596	8.6	ALB, HSPA5, AKT1, RHOA, RHOB, PRKCG
24	positive regulation of MAPK cascade	GO:043410	8.5	IGF1, IGFBP3, IL6, INSR, INS, AR
25	positive regulation of transcription from RNA polymerase II promoter	GO:045944	8.4	SP1, CTNNB1, PPP1R12A, RPS27A, RHOQ, POMC
26	platelet activation	GO:030168	8.1	RASGRP1, SOD1, PRKCA, PRKCB, PRKCG, RHOB
27	negative regulation of cell proliferation	GO:008285	8.0	SIX5, PRKCA, CTNNB1, TNF, IGF1, IGFBP3
28	negative regulation of apoptotic process	GO:043066	7.9	TNF, AKT1, HSPA5, ALB, IL6, INS
29	apoptotic process	GO:006915	7.8	CTNNB1, RPS27A, RHOB, PRKCB, PRKCA, ROCK1

Molecular functions related to myotonic dystrophy according to GeneDecks:

(show all 9)

id	Name	GO ID	Score	Top Affiliating Genes
1	structural constituent of muscle	GO:008307	10.5	MYH7, PDLIM3, DMD, MYOM1, MYL2
2	protein heterodimerization activity	GO:046982	9.3	APOE, ENO2, CAPNS1, MYH7, BCL2, BIN1
3	insulin-like growth factor receptor binding	GO:005159	9.2	IGF1, INSR, INS, REN
4	protein kinase activity	GO:004672	9.1	ROCK1, PRKCA, PRKCG, TESK2, AKT1, CDK2
5	protein serine/threonine kinase activity	GO:004674	9.0	TESK2, DMPK, PRKCB, PRKCA, ROCK1, ROCK2
6	ATP binding	GO:005524	8.7	TESK2, TESK1, AKT1, HSPA9, HSPA5, INSR
7	hormone activity	GO:005179	8.5	ADIPOQ, POMC, PRL, CRH, GH1, IGF1
8	identical protein binding	GO:042802	8.4	ADIPOQ, TNF, HNRNPC, AKT1, APOE, CDC42BPA
9	protein binding	GO:005515	3.5	HSPA5, TESK1, DMD, DMPK, SP1, SPEN