MCID: MYT002
MIFTS: 50

Myotonic Dystrophy

Categories: Rare diseases, Muscle diseases, Endocrine diseases, Reproductive diseases, Eye diseases, Neuronal diseases, Genetic diseases

Aliases & Classifications for Myotonic Dystrophy

MalaCards integrated aliases for Myotonic Dystrophy:

Name: Myotonic Dystrophy 72 49 24 36 28 51 69
Dystrophia Myotonica 49 24
Myotonia Dystrophica 49 24
Myotonia Atrophica 49 24
Myotonic Dystrophy 1 69

Classifications:



External Ids:

KEGG 36 H00568
UMLS 69 C3250443

Summaries for Myotonic Dystrophy

NIH Rare Diseases : 49 Myotonic dystrophy is a disease that affects the muscles and other body systems. It is the most common form of muscular dystrophy that begins in adulthood, usually in a person’s 20s or 30s. This disease is characterized by progressive muscle loss and weakness. Myotonic dystrophy may be further classified into two types, and the two types may affect different muscles. People with myotonic dystrophy usually have prolonged muscle tensing (myotonia) and are not able to relax certain muscles after use. The severity of the disease may vary among affected people, even among members of the same family. Myotonic dystrophy is caused by mutations (changes) in the DMPK gene or the CNBP (ZNF9) gene depending on the specific type of myotonic dystrophy. The disease is inherited in an autosomal dominant manner. Myotonic dystrophy may be diagnosed when a healthcare provider observes signs and symptoms of the disease, and the diagnosis may be confirmed with tests of muscle function and genetic testing. Treatment is based on each person’s specific signs and symptoms and may include physical therapy, pain management with medication, and consultation with specialists.  Last updated: 8/21/2017

MalaCards based summary : Myotonic Dystrophy, also known as dystrophia myotonica, is related to myotonic dystrophy 2 and myotonic dystrophy 1, and has symptoms including excessive daytime somnolence and weakness. An important gene associated with Myotonic Dystrophy is DMPK (DM1 Protein Kinase). The drugs Dopamine and Lamotrigine have been mentioned in the context of this disorder. Affiliated tissues include testes, skeletal muscle and brain, and related phenotypes are Condensed cis-Golgi and Increased cell viability after pRB stimulation

Genetics Home Reference : 24 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.

Related Diseases for Myotonic Dystrophy

Diseases in the Myotonic Dystrophy family:

Myotonic Dystrophy 1 Myotonic Dystrophy 2

Diseases related to Myotonic Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 200)
# Related Disease Score Top Affiliating Genes
1 myotonic dystrophy 2 33.1 CLCN1 CNBP DMPK MBNL1
2 myotonic dystrophy 1 31.5 CELF1 CLCN1 CNBP DMPK MBNL1 MBNL3
3 myotonia 29.7 CLCN1 CNBP DMPK LOC108644431 MBNL1
4 myotonia congenita 29.5 CLCN1 CNBP DMPK
5 dysphagia 11.3
6 pilomatrixoma 11.3
7 myotonia atrophica 11.0
8 floppy infant syndrome 11.0
9 hypotonia 11.0
10 infantile hypotonia 11.0
11 swallowing disorders 11.0
12 aging 10.3
13 myopathy 10.3
14 muscular dystrophy 10.3
15 neuropathy 10.2
16 cerebritis 10.2
17 cataract 10.2
18 atrial fibrillation 10.2
19 hypersomnia 10.2
20 sleep disorder 10.1
21 neuronitis 10.1
22 cardiac conduction defect 10.1
23 ataxia and polyneuropathy, adult-onset 10.1
24 polyglucosan body myopathy 1 with or without immunodeficiency 10.1
25 hypogonadism 10.1
26 polyhydramnios 10.1
27 endotheliitis 10.1
28 myasthenia gravis 10.0
29 neuromuscular disease 10.0
30 muscular atrophy 10.0
31 myasthenia gravis congenital 10.0
32 amyotrophic lateral sclerosis 1 10.0
33 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.0
34 thymoma, familial 10.0
35 muscular dystrophy, becker type 10.0
36 fragile x syndrome 10.0
37 muscular dystrophy, duchenne type 10.0
38 46,xy gonadal dysgenesis, partial, with minifascicular neuropathy 10.0
39 metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 10.0
40 hydrocephalus 10.0
41 restless legs syndrome 10.0
42 cholelithiasis 10.0
43 respiratory failure 10.0
44 autosomal dominant cerebellar ataxia 10.0
45 epilepsy 10.0
46 lateral sclerosis 10.0
47 corneal dystrophy 10.0
48 thymoma 10.0
49 laryngitis 10.0
50 intestinal pseudo-obstruction 10.0

Graphical network of the top 20 diseases related to Myotonic Dystrophy:



Diseases related to Myotonic Dystrophy

Symptoms & Phenotypes for Myotonic Dystrophy

UMLS symptoms related to Myotonic Dystrophy:


excessive daytime somnolence, weakness

GenomeRNAi Phenotypes related to Myotonic Dystrophy according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Condensed cis-Golgi GR00365-A 9.13 CDC42BPA CKM DMPK
2 Increased cell viability after pRB stimulation GR00230-A-1 8.92 CDC42BPA CDC42BPB CKM DMPK

MGI Mouse Phenotypes related to Myotonic Dystrophy:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.17 CKM CLCN1 DMPK MBNL1 MBNL2 MBNL3

Drugs & Therapeutics for Myotonic Dystrophy

Drugs for Myotonic Dystrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 70)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 2, Phase 3 51-61-6, 62-31-7 681
2
Lamotrigine Approved, Investigational Phase 3 84057-84-1 3878
3
Methylphenidate Approved, Investigational Phase 2, Phase 3 20748-11-2, 113-45-1 4158
4
Fesoterodine Approved Phase 3 286930-02-7, 286930-03-8 6918558
5
Levodopa Approved Phase 3 59-92-7 6047
6
Apomorphine Approved, Investigational Phase 3 58-00-4, 41372-20-7 6005
7
Dehydroepiandrosterone Approved, Investigational, Nutraceutical Phase 2, Phase 3 53-43-0 9860744
8 Acyclovir Phase 3
9 calcium channel blockers Phase 3
10 Adjuvants, Immunologic Phase 2, Phase 3
11 Central Nervous System Stimulants Phase 2, Phase 3
12 Muscarinic Antagonists Phase 3
13 Sodium Channel Blockers Phase 3,Phase 2
14 Cholinergic Agents Phase 3
15 Cholinergic Antagonists Phase 3
16 Neurotransmitter Agents Phase 2, Phase 3
17 Neurotransmitter Uptake Inhibitors Phase 2, Phase 3
18 Diuretics, Potassium Sparing Phase 3,Phase 2
19 Dopamine Agents Phase 2, Phase 3
20 Dopamine Uptake Inhibitors Phase 2, Phase 3
21 Anticonvulsants Phase 3
22 Anti-Infective Agents Phase 3
23 Excitatory Amino Acid Antagonists Phase 3
24 Excitatory Amino Acids Phase 3
25 Calcium, Dietary Phase 3
26 Antiviral Agents Phase 3
27 Dopamine agonists Phase 3
28 Gastrointestinal Agents Phase 3
29 Peripheral Nervous System Agents Phase 3
30 Emetics Phase 3
31 Autonomic Agents Phase 3
32 DHEA (Dehydroepiandrosterone) Nutraceutical Phase 2, Phase 3
33
Zinc Approved, Investigational Phase 2 7440-66-6 32051 23994
34
Mexiletine Approved, Investigational Phase 2 31828-71-4 4178
35
Ranolazine Approved, Investigational Phase 2 95635-55-5, 142387-99-3 56959
36
Trastuzumab Approved, Investigational Phase 2 180288-69-1 9903
37
Leuprolide Approved, Investigational Phase 2 53714-56-0 657181 3911
38
Exemestane Approved, Investigational Phase 2 107868-30-4 60198
39
Letrozole Approved, Investigational Phase 2 112809-51-5 3902
40
Anastrozole Approved, Investigational Phase 2 120511-73-1 2187
41
Pertuzumab Approved Phase 2 380610-27-5, 145040-37-5 2540
42 insulin Phase 2,Phase 1
43 Mitogens Phase 2,Phase 1
44 Complement Factor I Phase 2
45 Hypoglycemic Agents Phase 2
46 Insulin, Globin Zinc Phase 2,Phase 1
47 Anti-Arrhythmia Agents Phase 2
48 Fertility Agents Phase 2
49 Steroid Synthesis Inhibitors Phase 2
50 Hormone Antagonists Phase 2

Interventional clinical trials:

(show all 50)

# Name Status NCT ID Phase Drugs
1 RAMYD Study - Evaluation of Arrhythmic Risk in Myotonic Dystrophy Unknown status NCT00127582 Phase 3
2 Efficacy and Safety of DHEA for Myotonic Dystrophy Completed NCT00167609 Phase 2, Phase 3 dehydroepiandrosterone 100 and 400 mg
3 Methylphenidate in Myotonic Dystrophy Type 1 Completed NCT01421992 Phase 2, Phase 3 Methylphenidate;Placebo
4 Lamotrigine as Treatment of Myotonia Completed NCT01939561 Phase 3 Lamotrigine;Placebo
5 Long-Term Open-Label Extension Trial for Subjects Completing the Phase 3 Trial of Fesoterodine (SP583) for the Treatment of Overactive Bladder Syndrome Completed NCT00220402 Phase 3 SPM 907
6 A Multicenter Trial to Investigate Fesoterodine Sustained Release in Overactive Bladder Syndrome Completed NCT00220363 Phase 3 SPM 907
7 Safety and Efficacy of a Violet Visible Light Blocking Intraocular Lens (IOL) Completed NCT00747227 Phase 3
8 Phase 3 Clinical Study for the Treatment of Cold Sore Completed NCT00769314 Phase 3 Acyclovir Lauriad;Placebo
9 PD P 506 A-PDT Versus Placebo-PDT and Cryosurgery for the Treatment of AK Completed NCT00308867 Phase 3
10 An Open-Label Phase 3 Study to Examine the Long-Term Safety, Tolerability and Efficacy of APL-130277 for the Acute Treatment of "OFF" Episodes in Patients With Parkinson's Disease Recruiting NCT02542696 Phase 3 APL-130277
11 Efficacy and Tolerance of Early Launching of Nocturnal Non Invasive Active, not recruiting NCT01225614 Phase 3
12 Safety and Efficacy Study of Recombinant Human Insulin-Like Growth Factor-I/Recombinant Human Insulin-Like Growth Factor Binding Protein-3 (rhIGF-I/rhIGFBP-3) In Myotonic Dystrophy Type 1 Unknown status NCT00577577 Phase 2 rhIGF-I/rhIGFBP-3;placebo
13 Clinical Efficacy Trial of Mexiletine for Myotonic Dystrophy Type 1 Completed NCT01406873 Phase 2 Mexiletine;Placebo
14 Study of Tideglusib in Adolescent and Adult Patients With Myotonic Dystrophy Completed NCT02858908 Phase 2 Tideglusib
15 Effects of SomatoKine (Iplex)Recombinant Human Insulin-like Growth Factor-1/Recombinant Human Insulin-like Growth Factor-binding Protein-3 (rhIGF-I/rhIGFBP-3) in Myotonic Dystrophy Type 1 (DM1) Completed NCT00233519 Phase 1, Phase 2 SomatoKine/IPLEX
16 A Safety andTolerability Study of Multiple Doses of ISIS-DMPKRx in Adults With Myotonic Dystrophy Type 1 Completed NCT02312011 Phase 1, Phase 2 IONIS-DMPKRx;Placebo
17 Study of Ranolazine in Myotonia Congenita, Paramyotonia Congenita and Myotonic Dystrophy Type 1 Completed NCT02251457 Phase 2 Ranolazine
18 NEOADjuvant Aromatase Inhibitor and Pertuzumab/Trastuzumab for Women With Breast Cancer Recruiting NCT02689921 Phase 2 Exemestane;Letrozole;Anastrozole;Leuprolide Acetate;Pertuzumab;Trastuzumab
19 The Efficacy of Using Far Infrared Radiation to Manage Muscular Dystrophies Unknown status NCT00674843 Phase 1
20 Intramuscular Transplantation of Muscle Derived Stem Cell and Adipose Derived Mesenchymal Stem Cells in Patients With Facioscapulohumeral Dystrophy (FSHD) Recruiting NCT02208713 Phase 1
21 Children's Health Research Institute(CHRI), Stanford Lucile Packard Children Hospital (LPCH) Protocol on Myotonic Dystrophy Unknown status NCT02269865
22 Cardiovascular Consequences of NIV Withdrawal in Patients With Myotonic Dystrophy Unknown status NCT00745238
23 An MRI Study on Muscular Diseases -Pompe Disease and Dystrophia Myotonica- Unknown status NCT02708784
24 Tracking the Brain in Myotonic Dystrophies: a 5-year Longitudinal Follow-up Study Completed NCT02729597
25 Postural Spirometry Changes in Ambulatory Myotonic Dystrophy Patients Completed NCT01242007
26 Observational Prolonged Trial in Myotonic Dystrophy Type 1 Completed NCT02118779
27 Multicenter Observational Study of Myotonic Dystrophy Type 1 Completed NCT02308657
28 Study of Muscle Wasting and Altered Metabolism in Patients With Myotonic Dystrophy Completed NCT00004769
29 DM1 Heart Registry - DM1 Respiratory Registry Completed NCT01136330
30 Efficacy and Tolerance of AVAPS Mode in Myotonic Dystrophy Completed NCT01530841
31 Arrhythmias in Myotonic Muscular Dystrophy Completed NCT00622453
32 Venous Thromboembolism in DM1 Completed NCT03141749
33 Quality of Life in Neuromuscular Disease Completed NCT02895763
34 PhenoDM1 (Myotonic Dystrophy Type 1 Natural History Study) Recruiting NCT02831504
35 Trial Readiness and Endpoint Assessment in Congenital Myotonic Dystrophy Recruiting NCT03059264
36 Myotonic Dystrophy Family Registry Recruiting NCT02398786
37 Ventilatory Response After Non Invasive Ventilation in Type 1 Myotonic Dystrophy Recruiting NCT02880735
38 Sleep Breathing Disorders, a Main Trigger for Cardiac ARythmias in Type I Myotonic Dystrophy ? Recruiting NCT02375087
39 Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Registry Recruiting NCT00082108
40 Non Invasive Prenatal Testing (NIPT) of Single-gene Disorders Recruiting NCT02339402
41 Screening Questionnaire for Respiratory Muscle Weakness and Sleep-disordered Breathing in Neuromuscular Disorders Recruiting NCT02833168
42 Prospective Assessment of Allogeneic Hematopoietic Cell Transplantation in Patients With Myelofibrosis Recruiting NCT02934477
43 Muscle Relaxation in Myopathies With Positive Muscle Phenomena Enrolling by invitation NCT03211923
44 Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac Arrhythmias Enrolling by invitation NCT02413450
45 Venous Thromboembolism in Myotonic Dystrophy Type 1 Not yet recruiting NCT03424460
46 NIPD on CFTC for Triplet Repeat Diseases Not yet recruiting NCT03087526
47 Compare Train and 3D-4D Left Ventricular Systolic Function in Subjects Suffering From Dystrophy and Healthy Subjects Terminated NCT02930408
48 Development of New Prenatal Diagnostic Tests From Maternal Blood Terminated NCT00314691
49 A Clinical Trial to Evaluate the Safety and Effectiveness of the Raindrop Near Vision Inlay for Pseudophakic Subjects Terminated NCT03017612
50 European Home Mechanical Ventilation Registry Terminated NCT02315339

Search NIH Clinical Center for Myotonic Dystrophy

Genetic Tests for Myotonic Dystrophy

Genetic tests related to Myotonic Dystrophy:

# Genetic test Affiliating Genes
1 Myotonic Dystrophy 28

Anatomical Context for Myotonic Dystrophy

MalaCards organs/tissues related to Myotonic Dystrophy:

38
Testes, Skeletal Muscle, Brain, Heart, Liver, Breast, Endothelial

Publications for Myotonic Dystrophy

Articles related to Myotonic Dystrophy:

(show top 50) (show all 1326)
# Title Authors Year
1
Altered power spectral density in the resting-state sensorimotor network in patients with myotonic dystrophy type 1. ( 29343751 )
2018
2
Macroscopic and microscopic diversity of missplicing in the central nervous system of patients with myotonic dystrophy type 1. ( 29381654 )
2018
3
Myotonic dystrophy type 1 with diabetes mellitus, mixed hypogonadism and adrenal insufficiency. ( 29367875 )
2018
4
Validation of The Individualized Neuromuscular Quality of Life in Japanese patients with myotonic dystrophy. ( 29342319 )
2018
5
Clinical neuropsychology in the management of myotonic dystrophy. ( 29381813 )
2018
6
Increased EEG Theta Spectral Power in Sleep in Myotonic Dystrophy Type 1. ( 29394960 )
2018
7
Craniofacial morphology and growth in young patients with congenital or childhood onset myotonic dystrophy. ( 29420722 )
2018
8
Development and Validation of a New Scoring System to Predict Survival in Patients With Myotonic Dystrophy Type 1. ( 29404559 )
2018
9
Orexin/hypocretin levels in the cerebrospinal fluid and characteristics of patients with myotonic dystrophy type 1 with excessive daytime sleepiness. ( 29445282 )
2018
10
Recurrence of Gastric Masses in a Neonate with Congenital Myotonic Dystrophy. ( 29383602 )
2018
11
Hearing impairment in patients with myotonic dystrophy type 2. ( 29343467 )
2018
12
Swallowing impairments in Amyotrophic Lateral Sclerosis and Myotonic Dystrophy type 1: Looking for the portrait of dysphagic patient in neuromuscular diseases. ( 29400682 )
2018
13
Five-year serial follow-up of muscle MRI in adult onset myotonic dystrophy type 1: A case report. ( 29369170 )
2018
14
High frequency of gastrointestinal manifestations in myotonic dystrophy type 1 and type 2. ( 28855409 )
2017
15
Myotonic Dystrophy Type 1 Clinical, Electrophysiological and Molecular Characterization: Experience at Tertiary Care Centre. ( 28782311 )
2017
16
Cognitive decline over time in adults with myotonic dystrophy type 1: A 9-year longitudinal study. ( 27919548 )
2017
17
Structure and Dynamics of RNA Repeat Expansions That Cause Huntington's Disease and Myotonic Dystrophy Type 1. ( 28617590 )
2017
18
Non invasive mechanical ventilation in myotonic dystrophy type 1? Hypoventilation versus quality of life prespective. ( 29358018 )
2017
19
Preferential changes of skeletal muscle echogenicity in myotonic dystrophy type 1. ( 27933692 )
2017
20
Hyperostosis Frontalis Interna in Myotonic Dystrophy. ( 28824073 )
2017
21
Antisense transcription of the myotonic dystrophy locus yields low-abundant RNAs with and without (CAG)n repeat. ( 28102759 )
2017
22
The proposal of a clinical protocol to assess central and peripheral fatigue in myotonic dystrophy type 1. ( 28715597 )
2017
23
Micro-RNA expression in muscle and fiber morphometry in myotonic dystrophy type 1. ( 28078570 )
2017
24
Corneal Endothelial Dystrophy Associated With Myotonic Dystrophy: A Report of 2 Cases. ( 28820792 )
2017
25
RAN Translation Regulated by Muscleblind Proteins in Myotonic Dystrophy Type 2. ( 28910618 )
2017
26
Comments on Letter to the Editor entitled: "Role of electrophysiological evaluation for the best device choice to prevent sudden cardiac death in patients with Myotonic Dystrophy Type1 and Emery Dreifuss Muscular Dystrophy". ( 28291654 )
2017
27
Childhood-onset form of myotonic dystrophy type 1 and autism spectrum disorder: Is there comorbidity? ( 29361396 )
2017
28
Genotype and other determinants of respiratory function in myotonic dystrophy type 1. ( 29398295 )
2017
29
CRISPR/Cas9-Mediated Deletion of CTG Expansions Recovers Normal Phenotype in Myogenic Cells Derived from Myotonic Dystrophy 1 Patients. ( 29246312 )
2017
30
Myotonic dystrophy: candidate small molecule therapeutics. ( 28780071 )
2017
31
CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy. ( 28257691 )
2017
32
Targeting deregulated AMPK/mTORC1 pathways improves muscle function in myotonic dystrophy type I. ( 28067669 )
2017
33
Fuchs' Endothelial and Myotonic Dystrophies: Corneal Dystrophy in Myotonic Patients. ( 29136408 )
2017
34
Molecular genetic and clinical characterization of myotonic dystrophy type 1 patients carrying variant repeats within DMPK expansions. ( 28942489 )
2017
35
Myotonic dystrophy type 2 and modifier genes: an update on clinical and pathomolecular aspects. ( 28078562 )
2017
36
BNA(NC) Gapmers Revert Splicing and Reduce RNA Foci with Low Toxicity in Myotonic Dystrophy Cells. ( 28853853 )
2017
37
Fuchs' Endothelial Corneal Dystrophy and RNA Foci in Patients With Myotonic Dystrophy. ( 28886202 )
2017
38
Anesthetic Management for Multiple Family Members with Myotonic Dystrophy for Interventional Cardiac Procedures-A Case Series. ( 29359132 )
2017
39
Clinical characteristics of pregnancies complicated by congenital myotonic dystrophy. ( 28791262 )
2017
40
Investigation of the molecular mechanisms underlying myotonic dystrophy types 1 and 2 cataracts using microRNAa89target gene networks. ( 28731161 )
2017
41
Congenital myotonic dystrophy-an RNA-mediated disease across a developmental continuum. ( 28717044 )
2017
42
The Myotonic Dystrophy Health Index: Italian validation of a disease-specific outcome measure. ( 28890289 )
2017
43
Evolving Motivations: Patients' and Caregivers' Perceptions About Seeking Myotonic Dystrophy (DM1) and Huntington's Disease Care. ( 28799481 )
2017
44
Genetic testing of individuals with pre-senile cataract identifies patients with myotonic dystrophy type 2. ( 29024355 )
2017
45
The cognitive profile of myotonic dystrophy type 1:A A systematic review and meta-analysis. ( 28892766 )
2017
46
Preimplantation Genetic Diagnosis for Myotonic Dystrophy Type 1 and Analysis of the Effect of the Disease on the Reproductive Outcome of the Affected Female Patients. ( 29349085 )
2017
47
Non-invasive mechanical ventilation in myotonic dystrophy type 1? Hypoventilation versus quality of life perspective. ( 29352628 )
2017
48
Disrupted prenatal RNA processing and myogenesis in congenital myotonic dystrophy. ( 28698297 )
2017
49
Brain imaging in myotonic dystrophy type 1: A systematic review. ( 28768849 )
2017
50
Personality traits in patients with myotonic dystrophy type 2. ( 28690389 )
2017

Variations for Myotonic Dystrophy

Expression for Myotonic Dystrophy

Search GEO for disease gene expression data for Myotonic Dystrophy.

Pathways for Myotonic Dystrophy

GO Terms for Myotonic Dystrophy

Cellular components related to Myotonic Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.7 CDC42BPA CDC42BPB CELF1 CKM CNBP DMPK
2 cell leading edge GO:0031252 9.16 CDC42BPA CDC42BPB
3 actomyosin GO:0042641 8.62 CDC42BPA CDC42BPB

Biological processes related to Myotonic Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mRNA processing GO:0006397 9.46 CELF1 MBNL1 MBNL2 MBNL3
2 actin cytoskeleton reorganization GO:0031532 9.32 CDC42BPA CDC42BPB
3 actomyosin structure organization GO:0031032 9.26 CDC42BPA CDC42BPB
4 RNA splicing GO:0008380 9.26 CELF1 MBNL1 MBNL2 MBNL3
5 regulation of RNA splicing GO:0043484 8.92 CELF1 MBNL1 MBNL2 MBNL3

Molecular functions related to Myotonic Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.28 CDC42BPA CDC42BPB CNBP DMPK MBNL1 MBNL2

Sources for Myotonic Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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