MCID: EMR001
MIFTS: 53

Emery-Dreifuss Muscular Dystrophy

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

Aliases & Classifications for Emery-Dreifuss Muscular Dystrophy

MalaCards integrated aliases for Emery-Dreifuss Muscular Dystrophy:

Name: Emery-Dreifuss Muscular Dystrophy 12 23 49 24 55 36 28 14
Edmd 12 49 24 55
Muscular Dystrophy, Emery-Dreifuss 41 69
Muscular Dystrophy, Tardive, Dreifuss-Emery Type, with Contractures 49
Benign Scapuloperoneal Muscular Dystrophy with Early Contractures 24
Muscular Dystrophy, Emery-Dreifuss Type 24
Muscular Dystrophy Emery-Dreifuss 51
Emery-Dreifuss Syndrome 24

Characteristics:

Orphanet epidemiological data:

55
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: 55  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:11726
MeSH 41 D020389
NCIt 46 C84685
Orphanet 55 ORPHA261
MESH via Orphanet 42 D020389
UMLS via Orphanet 70 C0410189
ICD10 via Orphanet 33 G71.0
KEGG 36 H00563
UMLS 69 C0410189

Summaries for Emery-Dreifuss Muscular Dystrophy

NIH Rare Diseases : 49 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, x-linked and emery-dreifuss muscular dystrophy 2, autosomal dominant, and has symptoms including ptosis, pectus excavatum and sprengel anomaly. 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 Increased shRNA abundance (Z-score > 2)

Genetics Home Reference : 24 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.

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

GeneReviews: NBK1436

Related Diseases for Emery-Dreifuss Muscular Dystrophy

Diseases in the Emery-Dreifuss Muscular Dystrophy family:

Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive Emery-Dreifuss Muscular Dystrophy, Dominant Type

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

(show all 50)
# Related Disease Score Top Affiliating Genes
1 emery-dreifuss muscular dystrophy, x-linked 34.9 EMD FHL1
2 emery-dreifuss muscular dystrophy 2, autosomal dominant 33.9 EMD LMNA SYNE1 SYNE2 TMEM43
3 muscular dystrophy 31.3 EMD FHL1 LMNA SYNE1 SYNE2 TMEM43
4 muscular dystrophy, limb-girdle, type 1b 31.1 EMD LMNA
5 familial partial lipodystrophy 30.7 EMD LMNA
6 dilated cardiomyopathy 30.4 EMD LMNA SUN2 TMPO
7 emery-dreifuss muscular dystrophy 3, autosomal recessive 12.9
8 emery-dreifuss muscular dystrophy 1, x-linked 12.9
9 emery-dreifuss muscular dystrophy 7, autosomal dominant 12.8
10 emery-dreifuss muscular dystrophy 4, autosomal dominant 12.8
11 emery-dreifuss muscular dystrophy 5, autosomal dominant 12.7
12 emery-dreifuss muscular dystrophy, dominant type 12.7
13 emery-dreifuss syndrome 12.4
14 myopathy, x-linked, with postural muscle atrophy 12.3
15 scapuloperoneal myopathy, x-linked dominant 11.8
16 scapuloperoneal myopathy, myh7-related 11.4
17 cardiac conduction defect 10.5
18 lipodystrophy 10.5
19 limb-girdle muscular dystrophy 10.5
20 myopathy 10.5
21 cardiomyopathy, dilated, 1h 10.4 EMD LMNA
22 myotonic dystrophy 10.4
23 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.3 LMNA TMEM43
24 myopathy, proximal, and ophthalmoplegia 10.3 EMD LMNA
25 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.3 LMNA TMEM43
26 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.3 LMNA TMEM43
27 autosomal dominant limb-girdle muscular dystrophy 10.3 EMD LMNA
28 cardiomyopathy, dilated, 1a 10.3 EMD LMNA
29 fibrosis of extraocular muscles, congenital, 1 10.2
30 inclusion body myositis 10.2
31 myositis 10.2
32 myotonic dystrophy 1 10.2
33 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.2
34 rigid spine muscular dystrophy 1 10.2
35 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.2
36 atrioventricular block 10.2
37 atrial fibrillation 10.2
38 polyneuropathy 10.2
39 centronuclear myopathy 10.2
40 dyskeratosis congenita 10.2
41 congenital myasthenic syndrome 10.2
42 collagen vi-related myopathy 10.2
43 leukodystrophy, demyelinating, adult-onset, autosomal dominant 10.2 LMNA LMNB1
44 emerinopathy 10.1 EMD LMNA SUN2
45 arrhythmogenic right ventricular cardiomyopathy 10.1 EMD LMNA TMEM43
46 intrinsic cardiomyopathy 10.1 LMNA TMEM43
47 spinocerebellar ataxia 31 10.0 LMNB1 SYNE1
48 muscular dystrophy, congenital, lmna-related 10.0 EMD LMNA
49 pelger-huet anomaly 9.6 EMD LMNA LMNB1 LMNB2
50 reynolds syndrome 9.1 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:

55 31 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 55 31 frequent (33%) Frequent (79-30%) HP:0000508
2 pectus excavatum 55 31 hallmark (90%) Very frequent (99-80%) HP:0000767
3 sprengel anomaly 55 31 frequent (33%) Frequent (79-30%) HP:0000912
4 muscular hypotonia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001252
5 gait disturbance 55 31 hallmark (90%) Very frequent (99-80%) HP:0001288
6 reduced tendon reflexes 55 31 hallmark (90%) Very frequent (99-80%) HP:0001315
7 joint stiffness 55 31 hallmark (90%) Very frequent (99-80%) HP:0001387
8 obesity 55 31 occasional (7.5%) Occasional (29-5%) HP:0001513
9 hypertrophic cardiomyopathy 55 31 frequent (33%) Frequent (79-30%) HP:0001639
10 atrioventricular block 55 31 frequent (33%) Frequent (79-30%) HP:0001678
11 myotonia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002486
12 scoliosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002650
13 kyphosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002808
14 myopathy 55 31 hallmark (90%) Very frequent (99-80%) HP:0003198
15 elevated serum creatine phosphokinase 55 31 hallmark (90%) Very frequent (99-80%) HP:0003236
16 hyperlordosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0003307
17 emg abnormality 55 31 hallmark (90%) Very frequent (99-80%) HP:0003457
18 scapular winging 55 31 frequent (33%) Frequent (79-30%) HP:0003691
19 ichthyosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0008064
20 cognitive impairment 55 31 frequent (33%) Frequent (79-30%) HP:0100543

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

25 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.53 TMPO
2 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.53 TMPO
3 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.53 TMPO
4 Increased shRNA abundance (Z-score > 2) GR00366-A-131 9.53 LMNA LMNB1 TMPO
5 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.53 TMPO
6 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.53 LMNA
7 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.53 TMPO
8 Increased shRNA abundance (Z-score > 2) GR00366-A-201 9.53 LMNB1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.53 LMNB1 TMPO
10 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.53 TMPO
11 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.53 LMNB1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-88 9.53 LMNB1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-90 9.53 LMNA

MGI Mouse Phenotypes related to Emery-Dreifuss Muscular Dystrophy:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.81 EMD LEMD3 LMNA LMNB1 LMNB2 SUN2
2 muscle MP:0005369 9.56 EMD FHL1 LMNA LMNB1 LMNB2 SUN2
3 respiratory system MP:0005388 9.02 LMNA LMNB1 LMNB2 SYNE1 SYNE2

Drugs & Therapeutics for Emery-Dreifuss Muscular Dystrophy

Interventional clinical trials:


# 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:

# Genetic test Affiliating Genes
1 Emery-Dreifuss Muscular Dystrophy 28

Anatomical Context for Emery-Dreifuss Muscular Dystrophy

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

38
Heart, Skeletal Muscle, Testes, Skin

Publications for Emery-Dreifuss Muscular Dystrophy

Articles related to Emery-Dreifuss Muscular Dystrophy:

(show top 50) (show all 236)
# Title Authors Year
1
Immunohistochemistry on a panel of Emery-Dreifuss muscular dystrophy samples reveals nuclear envelope proteins as inconsistent markers for pathology. ( 28214269 )
2017
2
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
3
Dysfunctional lamins as mediators of oxidative stress in Emery-Dreifuss muscular dystrophy. ( 28984111 )
2017
4
Possible local anesthetic resistance in Emery-Dreifuss muscular dystrophy during regional anesthesia. ( 28794845 )
2017
5
A novel de novo mutation in Lamin A/C gene in Emery Dreifuss Muscular Dystrophy patient with atrial paralysis. ( 29250285 )
2017
6
A novel SYNE1 gene mutation in a Chinese family of Emery-Dreifuss muscular dystrophy-like. ( 28583108 )
2017
7
Emery-Dreifuss muscular dystrophy-linked genes and centronuclear myopathy-linked genes regulate myonuclear movement by distinct mechanisms. ( 28637766 )
2017
8
Occurrence of Emery-Dreifuss muscular dystrophy in a rural setting of Cameroon: a case report and review of the literature. ( 28069046 )
2017
9
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
10
Emery-Dreifuss muscular dystrophy type 2: New de novo mutation in the lamin A/C gene. ( 27461183 )
2016
11
Emery-Dreifuss Muscular Dystrophy: a Report of a Large Family with 11 Affected Individuals. ( 27942506 )
2016
12
Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy. ( 27179216 )
2016
13
Emery-Dreifuss muscular dystrophy mutations impair TRC40-mediated targeting of emerin to the inner nuclear membrane. ( 26675233 )
2016
14
Emery-Dreifuss muscular dystrophy: a test case for precision medicine. ( 26966385 )
2016
15
FHL1B Interacts with Lamin A/C andA Emerin at the Nuclear Lamina andA isA Misregulated in Emery-Dreifuss Muscular Dystrophy. ( 27911330 )
2016
16
Dilated cardiomyopathy with severe arrhythmias in Emery-Dreifuss muscular dystrophy: from ablation to heart transplantation. ( 29250253 )
2016
17
Perinatal Management of Pregnancy Complicated by Autosomal Dominant Emery-Dreifuss Muscular Dystrophy. ( 27054045 )
2016
18
Cardiac pacing in 21 patients with Emery-Dreifuss muscular dystrophy: a single-center study with a 39-year follow-up. ( 26575312 )
2015
19
Surgical treatment of upper extremity contractures in Emery-Dreifuss muscular dystrophy. ( 26588837 )
2015
20
Cardiac effects of the c.1583 Ca89G LMNA mutation in two families with Emery-Dreifuss muscular dystrophy. ( 26165385 )
2015
21
Dilated, arrhythmogenic cardiomyopathy in emery-dreifuss muscular dystrophy due to the emerin splice-site mutation c.449 + 1G>A. ( 25502304 )
2015
22
Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked Emery-Dreifuss muscular dystrophy. ( 25542668 )
2015
23
Combined subpectoral implantation of a cardioverter defibrillator and breast augmentation surgery in a patient with Emery-Dreifuss muscular dystrophy. ( 26021635 )
2015
24
Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked Emery-Dreifuss muscular dystrophy. ( 25454731 )
2015
25
Tissue inhibitors of matrix metalloproteinases in serum are cardiac biomarkers in Emery-Dreifuss muscular dystrophy. ( 25563468 )
2015
26
Emery-Dreifuss muscular dystrophy type 2 associated (?) with mild peripheral polyneuropathy. ( 26443318 )
2015
27
Cardiovascular risk markers in dilated cardiomyopathy in Emery-Dreifuss muscular dystrophy (EDMD). ( 24681014 )
2014
28
LMO7-null mice exhibit phenotypes consistent with emery-dreifuss muscular dystrophy. ( 24825363 )
2014
29
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
30
Professional activity of Emery-Dreifuss muscular dystrophy patients in Poland. ( 24839233 )
2014
31
Emery-Dreifuss muscular dystrophy, laminopathies, and other nuclear envelopathies. ( 23622360 )
2013
32
Homozygous lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive Emery Dreifuss muscular dystrophy. ( 23313286 )
2013
33
Dysregulation of FHL1 spliceforms due to an indel mutation produces an Emery-Dreifuss muscular dystrophy plus phenotype. ( 23456229 )
2013
34
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
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
In vitro contracture test results and anaesthetic management of a patient with emery-dreifuss muscular dystrophy for cardiac transplantation. ( 22973525 )
2012
37
Successful intravenous rt-PA thrombolysis for a childhood cardioembolic stroke with Emery-Dreifuss muscular dystrophy. ( 22179395 )
2012
38
Anaesthesia and orphan disease: management of cardiac and perioperative risks in a patient with Emery-Dreifuss muscular dystrophy. ( 23010897 )
2012
39
Regional and transmural dispersion of repolarisation in patients with Emery-Dreifuss muscular dystrophy. ( 23180524 )
2012
40
Increased dispersion of ventricular repolarization in Emery Dreifuss muscular dystrophy patients. ( 23111739 )
2012
41
Cardiac and muscle imaging findings in a family with X-linked Emery-Dreifuss muscular dystrophy. ( 21993399 )
2012
42
Cardioembolic stroke prompting diagnosis of LMNA-associated Emery-Dreifuss muscular dystrophy. ( 21922471 )
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
Atrial paralysis due to progression of cardiac disease in a patient with Emery-Dreifuss muscular dystrophy. ( 21432827 )
2011
46
Circulating tenascin-C levels in patients with dilated cardiomyopathy in the course of Emery-Dreifuss muscular dystrophy. ( 21596026 )
2011
47
Emery-Dreifuss muscular dystrophy. ( 21496632 )
2011
48
P-wave duration and dispersion in patients with Emery-Dreifuss muscular dystrophy. ( 22011621 )
2011
49
Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations. ( 20848652 )
2011
50
Novel and recurrent EMD mutations in patients with Emery-Dreifuss muscular dystrophy, identify exon 2 as a mutation hot spot. ( 21697856 )
2011

Variations for Emery-Dreifuss Muscular Dystrophy

ClinVar genetic disease variations for Emery-Dreifuss Muscular Dystrophy:

6
# 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)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.95 BANF1 EMD LEMD3 LMNA LMNB1 TMPO
2
Show member pathways
12.77 BANF1 EMD LEMD3 LMNA LMNB1 SUN2
3
Show member pathways
12.46 BANF1 EMD LEMD3 LMNA LMNB1 TMPO
4
Show member pathways
12.26 BANF1 EMD LEMD3 LMNA LMNB1 TMPO
5 12.25 EMD LMNA LMNB1 LMNB2 TMPO
6
Show member pathways
12.18 LMNA LMNB1 SUN2 SYNE1 SYNE2
7 11.97 LMNA LMNB1 LMNB2 TMPO
8
Show member pathways
11.91 LMNA LMNB1 LMNB2
9
Show member pathways
11.29 LMNA LMNB1 LMNB2
10
Show member pathways
11.16 LMNA LMNB1
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:

# Name GO ID Score Top Affiliating Genes
1 nuclear membrane GO:0031965 9.81 EMD LEMD3 LMNA LMNB1 LMNB2 SUN2
2 intermediate filament GO:0005882 9.63 LMNA LMNB1 LMNB2
3 nuclear outer membrane GO:0005640 9.58 EMD SYNE1 SYNE2
4 LINC complex GO:0034993 9.5 SUN2 SYNE1 SYNE2
5 nuclear inner membrane GO:0005637 9.5 EMD LEMD3 LMNB1 LMNB2 SUN2 TMEM43
6 integral component of nuclear inner membrane GO:0005639 9.43 LEMD3 SUN2
7 lamin filament GO:0005638 9.43 LMNA LMNB1 LMNB2
8 nuclear envelope GO:0005635 9.28 BANF1 EMD LMNA LMNB1 LMNB2 SUN2
9 nucleus GO:0005634 10.15 BANF1 EMD FHL1 LEMD3 LMNA LMNB1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 mitotic nuclear envelope disassembly GO:0007077 9.61 BANF1 EMD LMNA
2 protein localization to nucleus GO:0034504 9.49 LMNA SYNE2
3 centrosome localization GO:0051642 9.48 SUN2 SYNE2
4 nuclear migration GO:0007097 9.46 SUN2 SYNE2
5 nucleus organization GO:0006997 9.43 LEMD3 LMNA SYNE1
6 nuclear matrix anchoring at nuclear membrane GO:0090292 9.4 SUN2 SYNE1
7 nucleokinesis involved in cell motility in cerebral cortex radial glia guided migration GO:0021817 9.37 SUN2 SYNE2
8 mitotic nuclear envelope reassembly GO:0007084 9.33 BANF1 EMD LMNA
9 nuclear migration along microfilament GO:0031022 9.32 SUN2 SYNE2
10 cytoskeletal anchoring at nuclear membrane GO:0090286 9.13 SUN2 SYNE1 SYNE2
11 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:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.73 BANF1 EMD FHL1 LEMD3 LMNA LMNB1
2 structural molecule activity GO:0005198 9.33 LMNA LMNB1 LMNB2
3 lamin binding GO:0005521 8.8 SUN2 SYNE1 TMPO

Sources for Emery-Dreifuss Muscular 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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