MCID: EMR001
MIFTS: 55

Emery-Dreifuss Muscular Dystrophy

Categories: Rare diseases, Genetic diseases, Neuronal diseases, Muscle diseases, Cardiovascular diseases

Aliases & Classifications for Emery-Dreifuss Muscular Dystrophy

MalaCards integrated aliases for Emery-Dreifuss Muscular Dystrophy:

Name: Emery-Dreifuss Muscular Dystrophy 12 23 50 24 25 56 29 14
Edmd 12 50 25 56
Muscular Dystrophy, Emery-Dreifuss 42 69
Muscular Dystrophy, Tardive, Dreifuss-Emery Type, with Contractures 50
Benign Scapuloperoneal Muscular Dystrophy with Early Contractures 25
Muscular Dystrophy, Emery-Dreifuss Type 25
Muscular Dystrophy Emery-Dreifuss 52
Emery-Dreifuss Syndrome 25

Characteristics:

Orphanet epidemiological data:

56
emery-dreifuss muscular dystrophy
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Childhood; Age of death: adult;

GeneReviews:

23
Penetrance Five lmna pathogenic variants were reported with reduced penetrance in families with ad-edmd or other lmna-related disorders [vytopil et al 2002, rankin et al 2008]...

Classifications:

Orphanet: 56  
Rare neurological diseases


Summaries for Emery-Dreifuss Muscular Dystrophy

NIH Rare Diseases : 50 emery-dreifuss muscular dystrophy is a condition that affects the joints, muscles, and heart. joint symptoms tend to present in childhood and involve contractures of the elbows, ankles, and neck. children and adults with this dystrophy usually experience slowly worsening muscle weakness and wasting. by adulthood, most people with  emery-dreifuss muscular dystrophy develop heart problems, such as conduction defects and arrhythmias. emery-dreifuss muscular dystrophy is caused by mutations in the emd and lmna genes. it can be inherited in an x-linked, autosomal dominant, or autosomal recessive fashion. last updated: 8/16/2013

MalaCards based summary : Emery-Dreifuss Muscular Dystrophy, also known as edmd, is related to emery-dreifuss muscular dystrophy 2, ad and emery-dreifuss muscular dystrophy 1, x-linked, and has symptoms including scoliosis, cognitive impairment and ptosis. An important gene associated with Emery-Dreifuss Muscular Dystrophy is LMNA (Lamin A/C), and among its related pathways/superpathways are Transport of the SLBP independent Mature mRNA and Cell Cycle, Mitotic. Affiliated tissues include heart, skeletal muscle and testes, and related phenotypes are Increased shRNA abundance (Z-score > 2) and cellular

Disease Ontology : 12 A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle.

Genetics Home Reference : 25 Emery-Dreifuss muscular dystrophy is a condition that primarily affects muscles used for movement (skeletal muscles) and the heart (cardiac muscle). Among the earliest features of this disorder are joint deformities called contractures. Contractures restrict the movement of certain joints, most often the elbows, ankles, and neck, and usually become noticeable in early childhood. Most affected individuals also experience muscle weakness and wasting that worsen slowly over time, beginning in muscles of the upper arms and lower legs and later also affecting muscles in the shoulders and hips.

GeneReviews: NBK1436

Related Diseases for Emery-Dreifuss Muscular Dystrophy

Diseases in the Emery-Dreifuss Muscular Dystrophy family:

Emery-Dreifuss Muscular Dystrophy 2, Ad Emery-Dreifuss Muscular Dystrophy 3, Ar
Emery-Dreifuss Muscular Dystrophy 7, Ad Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant Emery-Dreifuss Muscular Dystrophy, Dominant Type
Syne1-Related Emery-Dreifuss Muscular Dystrophy Syne2-Related Emery-Dreifuss Muscular Dystrophy
Syne2-Related Emery-Dreifuss Muscular Dystrophy, Autosomal Lmna-Related Emery-Dreifuss Muscular Dystrophy, Autosomal
Tmem43-Related Emery-Dreifuss Muscular Dystrophy, Autosomal

Diseases related to Emery-Dreifuss Muscular Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 67)
id Related Disease Score Top Affiliating Genes
1 emery-dreifuss muscular dystrophy 2, ad 34.5 EMD LMNA SYNE1 SYNE2 TMEM43
2 emery-dreifuss muscular dystrophy 1, x-linked 12.6
3 emery-dreifuss muscular dystrophy 3, ar 12.6
4 emery-dreifuss muscular dystrophy, x-linked 12.6
5 emery-dreifuss muscular dystrophy 7, ad 12.6
6 emery-dreifuss muscular dystrophy 4, autosomal dominant 12.6
7 emery-dreifuss muscular dystrophy 5, autosomal dominant 12.6
8 emery-dreifuss muscular dystrophy, dominant type 12.6
9 fhl1-related emery-dreifuss muscular dystrophy, x-linked 12.3
10 syne1-related emery-dreifuss muscular dystrophy 12.3
11 syne2-related emery-dreifuss muscular dystrophy 12.3
12 emd-related emery-dreifuss muscular dystrophy, x-linked 12.3
13 tmem43-related emery-dreifuss muscular dystrophy, autosomal 12.3
14 syne2-related emery-dreifuss muscular dystrophy, autosomal 12.2
15 lmna-related emery-dreifuss muscular dystrophy, autosomal 12.2
16 myopathy, x-linked, with postural muscle atrophy 12.1
17 muscular dystrophy 11.4
18 epidermolysis bullosa dystrophica 10.9 EMD FHL1
19 cardiomyopathy, dilated, 1h 10.8 EMD LMNA
20 cardiomyopathy 10.7
21 ulnar hemimelia, unilateral 10.7 LMNA TMEM43
22 ulnar hemimelia, bilateral 10.7 LMNA TMEM43
23 tibial hemimelia, bilateral 10.7 LMNA TMEM43
24 atrial standstill, digenic 10.7 EMD LMNA
25 encephalocele anencephaly 10.7 EMD LMNA SUN2
26 arthrogryposis, distal, type 2a 10.6 EMD LMNA
27 muscular dystrophy, limb-girdle, type 1b 10.5 EMD LMNA
28 lipodystrophy 10.5
29 limb-girdle muscular dystrophy 10.5
30 dilated cardiomyopathy 10.5
31 hutchinson-gilford progeria 10.5 LMNA LMNB1 TMPO
32 myopathy, areflexia, respiratory distress, and dysphagia, early-onset 10.4 LMNA LMNB1
33 sudden cardiac death 10.4
34 myopathy 10.4
35 myotonic dystrophy 10.3
36 myositis 10.2
37 cardiac conduction defect 10.2
38 inclusion body myositis 10.2
39 familial partial lipodystrophy 10.2
40 atrioventricular block 10.2
41 atrial fibrillation 10.2
42 polyneuropathy 10.2
43 centronuclear myopathy 10.2
44 dyskeratosis congenita 10.2
45 congenital myasthenic syndrome 10.2
46 collagen vi-related myopathy 10.2
47 pelger-huet anomaly 10.1 EMD LBR LMNA LMNB1 LMNB2
48 microcephaly and chorioretinopathy 1 10.0 DMD EMD LMNA
49 usher syndrome 9.8 DMD EMD LMNA TMEM43
50 reynolds syndrome 9.8 LBR LMNA LMNB1 LMNB2 SUN2 TMPO

Graphical network of the top 20 diseases related to Emery-Dreifuss Muscular Dystrophy:



Diseases related to Emery-Dreifuss Muscular Dystrophy

Symptoms & Phenotypes for Emery-Dreifuss Muscular Dystrophy

Human phenotypes related to Emery-Dreifuss Muscular Dystrophy:

56 32 (show all 20)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002650
2 cognitive impairment 56 32 frequent (33%) Frequent (79-30%) HP:0100543
3 ptosis 56 32 frequent (33%) Frequent (79-30%) HP:0000508
4 kyphosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002808
5 hypertrophic cardiomyopathy 56 32 frequent (33%) Frequent (79-30%) HP:0001639
6 myopathy 56 32 hallmark (90%) Very frequent (99-80%) HP:0003198
7 pectus excavatum 56 32 hallmark (90%) Very frequent (99-80%) HP:0000767
8 ichthyosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0008064
9 scapular winging 56 32 frequent (33%) Frequent (79-30%) HP:0003691
10 joint stiffness 56 32 hallmark (90%) Very frequent (99-80%) HP:0001387
11 atrioventricular block 56 32 frequent (33%) Frequent (79-30%) HP:0001678
12 hyperlordosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0003307
13 obesity 56 32 occasional (7.5%) Occasional (29-5%) HP:0001513
14 muscular hypotonia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001252
15 sprengel anomaly 56 32 frequent (33%) Frequent (79-30%) HP:0000912
16 gait disturbance 56 32 hallmark (90%) Very frequent (99-80%) HP:0001288
17 myotonia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002486
18 elevated serum creatine phosphokinase 56 32 hallmark (90%) Very frequent (99-80%) HP:0003236
19 emg abnormality 56 32 hallmark (90%) Very frequent (99-80%) HP:0003457
20 reduced tendon reflexes 56 32 hallmark (90%) Very frequent (99-80%) HP:0001315

GenomeRNAi Phenotypes related to Emery-Dreifuss Muscular Dystrophy according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.66 TMPO
2 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.66 TMPO
3 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.66 TMPO
4 Increased shRNA abundance (Z-score > 2) GR00366-A-131 9.66 LMNB1 TMPO LAMA2 LMNA
5 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.66 TMPO
6 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.66 LMNA
7 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.66 TMPO
8 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.66 LAMA2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.66 LAMA2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.66 LAMA2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-201 9.66 LMNB1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.66 TMPO LMNB1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.66 TMPO
14 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.66 LAMA2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.66 LMNB1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-88 9.66 LMNB1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-90 9.66 LMNA
18 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.66 LAMA2

MGI Mouse Phenotypes related to Emery-Dreifuss Muscular Dystrophy:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.13 LAMA2 LBR LEMD3 LMNA LMNB1 LMNB2
2 behavior/neurological MP:0005386 10.07 BCLAF1 DMD EMD FHL1 LAMA2 LBR
3 mortality/aging MP:0010768 10.03 SYNE1 SYNE2 ASNA1 BCLAF1 DMD LAMA2
4 muscle MP:0005369 9.85 DMD EMD FHL1 LAMA2 LMNA LMNB1
5 nervous system MP:0003631 9.65 LBR LMNA LMNB1 LMNB2 SUN2 SYNE1
6 respiratory system MP:0005388 9.23 BCLAF1 DMD LBR LMNA LMNB1 LMNB2

Drugs & Therapeutics for Emery-Dreifuss Muscular Dystrophy

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402

Search NIH Clinical Center for Emery-Dreifuss Muscular Dystrophy

Cochrane evidence based reviews: muscular dystrophy, emery-dreifuss

Genetic Tests for Emery-Dreifuss Muscular Dystrophy

Genetic tests related to Emery-Dreifuss Muscular Dystrophy:

id Genetic test Affiliating Genes
1 Emery-Dreifuss Muscular Dystrophy 29 24 LMNA TMEM43 FHL1 EMD

Anatomical Context for Emery-Dreifuss Muscular Dystrophy

MalaCards organs/tissues related to Emery-Dreifuss Muscular Dystrophy:

39
Heart, Skeletal Muscle, Testes, Skin, Breast

Publications for Emery-Dreifuss Muscular Dystrophy

Articles related to Emery-Dreifuss Muscular Dystrophy:

(show top 50) (show all 233)
id Title Authors Year
1
Emery-Dreifuss muscular dystrophy-linked genes and centronuclear myopathy-linked genes regulate myonuclear movement by distinct mechanisms. ( 28637766 )
2017
2
Possible local anesthetic resistance in Emery-Dreifuss muscular dystrophy during regional anesthesia. ( 28794845 )
2017
3
Emery-Dreifuss Muscular Dystrophy-Associated Mutant Forms of Lamin A Recruit the Stress Responsive Protein Ankrd2 into the Nucleus, Affecting the Cellular Response to Oxidative Stress. ( 28531892 )
2017
4
Occurrence of Emery-Dreifuss muscular dystrophy in a rural setting of Cameroon: a case report and review of the literature. ( 28069046 )
2017
5
Role of electrophysiological evaluation for the best device choice to prevent sudden cardiac death in patients with Myotonic Dystrophy Type 1 and Emery Dreifuss Muscular Dystrophy. ( 28237579 )
2017
6
A novel SYNE1 gene mutation in a Chinese family of Emery-Dreifuss muscular dystrophy-like. ( 28583108 )
2017
7
Immunohistochemistry on a panel of Emery-Dreifuss muscular dystrophy samples reveals nuclear envelope proteins as inconsistent markers for pathology. ( 28214269 )
2017
8
Emery-Dreifuss Muscular Dystrophy: a Report of a Large Family with 11 Affected Individuals. ( 27942506 )
2016
9
Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy. ( 27179216 )
2016
10
Perinatal Management of Pregnancy Complicated by Autosomal Dominant Emery-Dreifuss Muscular Dystrophy. ( 27054045 )
2016
11
Emery-Dreifuss muscular dystrophy type 2: New de novo mutation in the lamin A/C gene. ( 27461183 )
2016
12
Emery-Dreifuss muscular dystrophy: a test case for precision medicine. ( 26966385 )
2016
13
FHL1B Interacts with Lamin A/C andA Emerin at the Nuclear Lamina andA isA Misregulated in Emery-Dreifuss Muscular Dystrophy. ( 27911330 )
2016
14
Emery-Dreifuss muscular dystrophy mutations impair TRC40-mediated targeting of emerin to the inner nuclear membrane. ( 26675233 )
2016
15
Cardiac effects of the c.1583 Ca89G LMNA mutation in two families with Emery-Dreifuss muscular dystrophy. ( 26165385 )
2015
16
Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked Emery-Dreifuss muscular dystrophy. ( 25542668 )
2015
17
Surgical treatment of upper extremity contractures in Emery-Dreifuss muscular dystrophy. ( 26588837 )
2015
18
Dilated, arrhythmogenic cardiomyopathy in emery-dreifuss muscular dystrophy due to the emerin splice-site mutation c.449 + 1G>A. ( 25502304 )
2015
19
Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked Emery-Dreifuss muscular dystrophy. ( 25454731 )
2015
20
Combined subpectoral implantation of a cardioverter defibrillator and breast augmentation surgery in a patient with Emery-Dreifuss muscular dystrophy. ( 26021635 )
2015
21
Cardiac pacing in 21 patients with Emery-Dreifuss muscular dystrophy: a single-center study with a 39-year follow-up. ( 26575312 )
2015
22
Tissue inhibitors of matrix metalloproteinases in serum are cardiac biomarkers in Emery-Dreifuss muscular dystrophy. ( 25563468 )
2015
23
Emery-Dreifuss muscular dystrophy type 2 associated (?) with mild peripheral polyneuropathy. ( 26443318 )
2015
24
Professional activity of Emery-Dreifuss muscular dystrophy patients in Poland. ( 24839233 )
2014
25
Cardiovascular risk markers in dilated cardiomyopathy in Emery-Dreifuss muscular dystrophy (EDMD). ( 24681014 )
2014
26
ICD role in preventing sudden cardiac death in Emery-Dreifuss muscular dystrophy with preserved myocardial function: 2013 ESC Guidelines on Cardiac Pacing and Cardiac Resynchronization Therapy. ( 24948592 )
2014
27
LMO7-null mice exhibit phenotypes consistent with emery-dreifuss muscular dystrophy. ( 24825363 )
2014
28
Dysregulation of FHL1 spliceforms due to an indel mutation produces an Emery-Dreifuss muscular dystrophy plus phenotype. ( 23456229 )
2013
29
Inhibition of extracellular signal-regulated kinase 1/2 signaling has beneficial effects on skeletal muscle in a mouse model of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutation. ( 23815988 )
2013
30
Homozygous lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive Emery Dreifuss muscular dystrophy. ( 23313286 )
2013
31
Emery-Dreifuss muscular dystrophy, laminopathies, and other nuclear envelopathies. ( 23622360 )
2013
32
Cardiac and muscle imaging findings in a family with X-linked Emery-Dreifuss muscular dystrophy. ( 21993399 )
2012
33
Anaesthesia and orphan disease: management of cardiac and perioperative risks in a patient with Emery-Dreifuss muscular dystrophy. ( 23010897 )
2012
34
In vitro contracture test results and anaesthetic management of a patient with emery-dreifuss muscular dystrophy for cardiac transplantation. ( 22973525 )
2012
35
Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing. ( 22431096 )
2012
36
Successful intravenous rt-PA thrombolysis for a childhood cardioembolic stroke with Emery-Dreifuss muscular dystrophy. ( 22179395 )
2012
37
Increased dispersion of ventricular repolarization in Emery Dreifuss muscular dystrophy patients. ( 23111739 )
2012
38
Regional and transmural dispersion of repolarisation in patients with Emery-Dreifuss muscular dystrophy. ( 23180524 )
2012
39
Modifier locus of the skeletal muscle involvement in Emery-Dreifuss muscular dystrophy. ( 21063730 )
2011
40
P-wave duration and dispersion in patients with Emery-Dreifuss muscular dystrophy. ( 22011621 )
2011
41
Atrial paralysis due to progression of cardiac disease in a patient with Emery-Dreifuss muscular dystrophy. ( 21432827 )
2011
42
Circulating tenascin-C levels in patients with dilated cardiomyopathy in the course of Emery-Dreifuss muscular dystrophy. ( 21596026 )
2011
43
TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy. ( 21391237 )
2011
44
Osteopontin--a fibrosis-related marker--in dilated cardiomyopathy in patients with Emery-Dreifuss muscular dystrophy. ( 22077867 )
2011
45
Emery-Dreifuss muscular dystrophy. ( 21496632 )
2011
46
Cardioembolic stroke prompting diagnosis of LMNA-associated Emery-Dreifuss muscular dystrophy. ( 21922471 )
2011
47
Ventricular arrhythmia in X-linked Emery-Dreifuss muscular dystrophy: a lesson from an autopsy case. ( 21372459 )
2011
48
Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations. ( 20848652 )
2011
49
Novel and recurrent EMD mutations in patients with Emery-Dreifuss muscular dystrophy, identify exon 2 as a mutation hot spot. ( 21697856 )
2011
50
Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern. ( 20576434 )
2010

Variations for Emery-Dreifuss Muscular Dystrophy

ClinVar genetic disease variations for Emery-Dreifuss Muscular Dystrophy:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 LMNA NM_170707.3(LMNA): c.122G> A (p.Arg41His) single nucleotide variant Likely pathogenic rs1060502215 GRCh38 Chromosome 1, 156115040: 156115040

Expression for Emery-Dreifuss Muscular Dystrophy

Search GEO for disease gene expression data for Emery-Dreifuss Muscular Dystrophy.

Pathways for Emery-Dreifuss Muscular Dystrophy

Pathways related to Emery-Dreifuss Muscular Dystrophy according to GeneCards Suite gene sharing:

(show all 11)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.99 BANF1 EMD LEMD3 LMNA LMNB1 TMPO
2
Show member pathways
12.97 BANF1 EMD LEMD3 LMNA LMNB1 SUN2
3
Show member pathways
12.46 BANF1 EMD LEMD3 LMNA LMNB1 TMPO
4 12.25 EMD LMNA LMNB1 LMNB2 TMPO
5
Show member pathways
12.18 LMNA LMNB1 SUN2 SYNE1 SYNE2
6
Show member pathways
12.16 DMD EMD LAMA2 LMNA
7
Show member pathways
12.06 BANF1 EMD LEMD3 LMNA LMNB1 TMPO
8 12 LMNA LMNB1 LMNB2 TMPO
9
Show member pathways
11.26 LMNA LMNB1 LMNB2
10 10.76 DMD LAMA2
11
Show member pathways
10.62 BANF1 EMD LEMD3 LMNA LMNB1 TMPO

GO Terms for Emery-Dreifuss Muscular Dystrophy

Cellular components related to Emery-Dreifuss Muscular Dystrophy according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 nuclear membrane GO:0031965 9.81 EMD LBR LEMD3 LMNA LMNB1 SUN2
2 nuclear outer membrane GO:0005640 9.61 EMD SYNE1 SYNE2
3 nuclear envelope GO:0005635 9.61 EMD LBR LMNA LMNB1 LMNB2 SUN2
4 integral component of nuclear inner membrane GO:0005639 9.56 LBR LEMD3 SUN2 TMEM43
5 LINC complex GO:0034993 9.54 SUN2 SYNE1 SYNE2
6 lamin filament GO:0005638 9.5 LMNA LMNB1 LMNB2
7 filopodium membrane GO:0031527 9.46 DMD SYNE2
8 nuclear inner membrane GO:0005637 9.23 EMD LBR LEMD3 LMNB1 LMNB2 SUN2
9 nucleus GO:0005634 10.31 ASNA1 BANF1 BCLAF1 DMD EMD FHL1

Biological processes related to Emery-Dreifuss Muscular Dystrophy according to GeneCards Suite gene sharing:

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 mitotic nuclear envelope disassembly GO:0007077 9.63 BANF1 EMD LMNA
2 muscle organ development GO:0007517 9.62 DMD EMD FHL1 LAMA2
3 muscle cell differentiation GO:0042692 9.51 DMD SYNE1
4 centrosome localization GO:0051642 9.49 SUN2 SYNE2
5 nuclear migration GO:0007097 9.48 SUN2 SYNE2
6 nuclear matrix anchoring at nuclear membrane GO:0090292 9.43 SUN2 SYNE1
7 nucleokinesis involved in cell motility in cerebral cortex radial glia guided migration GO:0021817 9.4 SUN2 SYNE2
8 nucleus organization GO:0006997 9.37 LMNA SYNE1
9 mitotic nuclear envelope reassembly GO:0007084 9.33 BANF1 EMD LMNA
10 nuclear migration along microfilament GO:0031022 9.26 SUN2 SYNE2
11 cytoskeletal anchoring at nuclear membrane GO:0090286 9.13 SUN2 SYNE1 SYNE2
12 nuclear envelope organization GO:0006998 8.92 LEMD3 LMNA SUN2 SYNE2

Molecular functions related to Emery-Dreifuss Muscular Dystrophy according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.46 DMD EMD SYNE1 SYNE2
2 structural molecule activity GO:0005198 9.26 LAMA2 LMNA LMNB1 LMNB2
3 lamin binding GO:0005521 9.02 DMD LBR SUN2 SYNE1 TMPO

Sources for Emery-Dreifuss Muscular Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....