MCID: EMR001
MIFTS: 58

Emery-Dreifuss Muscular Dystrophy malady

Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases categories

Summaries for Emery-Dreifuss Muscular Dystrophy

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NIH Rare Diseases:43 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 muscular dystrophy and emery-dreifuss muscular dystrophy 2, ad, and has symptoms including pectus excavatum, gait disturbance and reduced tendon reflexes. An important gene associated with Emery-Dreifuss Muscular Dystrophy is LMNA (lamin A/C), and among its related pathways are Granzyme Pathway and Apoptosis and survival Caspase cascade. Affiliated tissues include heart, skeletal muscle and skin, and related mouse phenotypes are behavior/neurological and respiratory system.

Disease Ontology:10 A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle.

Genetics Home Reference:23 Emery-Dreifuss muscular dystrophy is a condition that chiefly affects muscles used for movement (skeletal muscles) and heart (cardiac) muscle. Among the earliest features of this disorder are joint deformities called contractures, which restrict the movement of certain joints. Contractures become noticeable in early childhood and most often involve the elbows, ankles, and neck. Most affected individuals also experience slowly progressive muscle weakness and wasting, beginning in muscles of the upper arms and lower legs and progressing to muscles in the shoulders and hips.

GeneReviews summary for edmd

Aliases & Classifications for Emery-Dreifuss Muscular Dystrophy

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Sources:
10Disease Ontology, 21GeneReviews, 43NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 12DISEASES, 49Orphanet, 62UMLS, 45Novoseek, 24GTR, 57SNOMED-CT, 40NCIt, 35MeSH, 36MESH via Orphanet, 28ICD10 via Orphanet, 63UMLS via Orphanet
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Emery-Dreifuss Muscular Dystrophy, Aliases & Descriptions:

Name: Emery-Dreifuss Muscular Dystrophy 10 21 43 22 23 12 49
Edmd 10 43 23 49
Benign Scapuloperoneal Muscular Dystrophy with Early Contractures 23 62
Muscular Dystrophy, Emery-Dreifuss 23 62
Muscular Dystrophy Emery-Dreifuss 45 24
 
Muscular Dystrophy, Tardive, Dreifuss-Emery Type, with Contractures 43
Humeroperoneal Neuromuscular Disease, 43
Scapuloperoneal Syndrome, X-Linked 43
Emery-Dreifuss Syndrome 23


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Muscle diseases


Characteristics (Orphanet epidemiological data):

49
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


External Ids:

Disease Ontology10 DOID:11726
NCIt40 C84685
MeSH35 D020389
Orphanet49 261
MESH via Orphanet36 D020389
ICD10 via Orphanet28 G71.0
UMLS via Orphanet63 C0410189

Related Diseases for Emery-Dreifuss Muscular Dystrophy

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Diseases in the Emery-Dreifuss Muscular Dystrophy family:

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

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

(show all 34)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy32.4LMNA, EMD, SUN2
2emery-dreifuss muscular dystrophy 2, ad31.5EMD, LMNA
3limb-girdle muscular dystrophy31.2EMD, LMNA
4lipodystrophy31.1EMD, LMNA, LMNB2
5dilated cardiomyopathy31.1SUN2, EMD, LMNA
6myopathy30.9EMD, LMNA, FHL1
7familial partial lipodystrophy30.7LMNA, EMD
8atrial fibrillation30.7EMD, LMNA
9neuromuscular disease30.4EMD, LMNA, SUN2
10emery-dreifuss muscular dystrophy, x-linked10.9
11emery-dreifuss muscular dystrophy 1, x-linked10.9
12emery-dreifuss muscular dystrophy, dominant type10.8
13emery-dreifuss muscular dystrophy 7, ad10.8
14autosomal recessive emery-dreifuss muscular dystrophy10.8
15emery-dreifuss muscular dystrophy 4, autosomal dominant10.7
16emery-dreifuss muscular dystrophy 5, autosomal dominant10.7
17myopathy, x-linked, with postural muscle atrophy10.7
18syne1-related emery-dreifuss muscular dystrophy10.6
19syne2-related emery-dreifuss muscular dystrophy10.6
20lmna-related emery-dreifuss muscular dystrophy, autosomal10.6
21emd-related emery-dreifuss muscular dystrophy, x-linked10.6
22fhl1-related emery-dreifuss muscular dystrophy, x-linked10.6
23cardiac conduction defect10.4
24dyskeratosis congenita10.4
25inclusion body myositis10.4
26congenital myasthenic syndrome10.4
27atrioventricular block10.4
28myositis10.4
29mandibuloacral dysplasia10.0LMNA
30pelger-huet anomaly10.0LMNB2, LMNA
31sudden cardiac death multi-gene panels10.0LMNA, EMD
32congenital heart disease10.0EMD, LMNA
33charcot-marie-tooth disease10.0SUN2, LMNA
34progeria10.0LMNA, EMD, BANF1

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



Diseases related to emery-dreifuss muscular dystrophy

Symptoms for Emery-Dreifuss Muscular Dystrophy

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Symptoms:

 49 (show all 21)
  • pectus excavatum
  • lordosis
  • abnormal gait
  • areflexia/hyporeflexia
  • myopathy
  • myotonia
  • abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase
  • abnormal emg/electromyogram/electropmyography
  • restricted joint mobility/joint stiffness/ankylosis
  • x-linked recessive inheritance
  • ptosis
  • scapula structural/position anomaly/congenital elevation/sprengel anomaly
  • cardiomyopathy/hypertrophic/dilated
  • cardiac conduction defect/sinoauricular/heart/auriculoventricular/branch block
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • kyphosis
  • scoliosis
  • ichthyosis/ichthyosiform dermatitis
  • hypotonia
  • generalized obesity
  • stillbirth/neonatal death

HPO human phenotypes related to Emery-Dreifuss Muscular Dystrophy:

(show all 18)
id Description Frequency HPO Source Accession
1 pectus excavatum hallmark (90%) HP:0000767
2 gait disturbance hallmark (90%) HP:0001288
3 reduced tendon reflexes hallmark (90%) HP:0001315
4 limitation of joint mobility hallmark (90%) HP:0001376
5 myotonia hallmark (90%) HP:0002486
6 myopathy hallmark (90%) HP:0003198
7 hyperlordosis hallmark (90%) HP:0003307
8 emg abnormality hallmark (90%) HP:0003457
9 ptosis typical (50%) HP:0000508
10 sprengel anomaly typical (50%) HP:0000912
11 hypertrophic cardiomyopathy typical (50%) HP:0001639
12 arrhythmia typical (50%) HP:0011675
13 cognitive impairment typical (50%) HP:0100543
14 muscular hypotonia occasional (7.5%) HP:0001252
15 obesity occasional (7.5%) HP:0001513
16 scoliosis occasional (7.5%) HP:0002650
17 kyphosis occasional (7.5%) HP:0002808
18 ichthyosis occasional (7.5%) HP:0008064

Drugs & Therapeutics for Emery-Dreifuss Muscular Dystrophy

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Drug clinical trials:

Search ClinicalTrials for Emery-Dreifuss Muscular Dystrophy

Search NIH Clinical Center for Emery-Dreifuss Muscular Dystrophy

Genetic Tests for Emery-Dreifuss Muscular Dystrophy

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Genetic tests related to Emery-Dreifuss Muscular Dystrophy:

id Genetic test Affiliating Genes
1 Emery-Dreifuss Muscular Dystrophy22 24 LMNA

Anatomical Context for Emery-Dreifuss Muscular Dystrophy

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

33
Heart, Skeletal muscle, Skin, Testes

Animal Models for Emery-Dreifuss Muscular Dystrophy or affiliated genes

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MGI Mouse Phenotypes related to Emery-Dreifuss Muscular Dystrophy:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.7FHL1, SYNE1, LMNA, TMEM43, EMD
2MP:00053888.6LMNA, LMNB2, SYNE1, SYNE2
3MP:00053697.7SYNE2, SYNE1, LMNB2, LMNA, SUN2, EMD

Publications for Emery-Dreifuss Muscular Dystrophy

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Articles related to Emery-Dreifuss Muscular Dystrophy:

(show top 50)    (show all 209)
idTitleAuthorsYear
1
Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked Emery-Dreifuss muscular dystrophy. (25542668)
2015
2
Emery-Dreifuss muscular dystrophy, laminopathies, and other nuclear envelopathies. (23622360)
2013
3
Regional and transmural dispersion of repolarisation in patients with Emery-Dreifuss muscular dystrophy. (23180524)
2012
4
Novel and recurrent EMD mutations in patients with Emery-Dreifuss muscular dystrophy, identify exon 2 as a mutation hot spot. (21697856)
2011
5
Cardioembolic stroke prompting diagnosis of LMNA-associated Emery-Dreifuss muscular dystrophy. (21922471)
2011
6
Elective caesarean section for a woman with Emery-Dreifuss muscular dystrophy. (20715741)
2010
7
Disruption of nesprin-1 produces an Emery Dreifuss muscular dystrophy-like phenotype in mice. (19008300)
2009
8
Lamin A/C-mediated neuromuscular junction defects in Emery-Dreifuss muscular dystrophy. (19124654)
2009
9
Investigating the pathology of Emery-Dreifuss muscular dystrophy. (19021551)
2008
10
Molecular signatures of Emery-Dreifuss muscular dystrophy. (19021555)
2008
11
Activation of MAPK pathways links LMNA mutations to cardiomyopathy in Emery-Dreifuss muscular dystrophy. (17446932)
2007
12
Emery-Dreifuss muscular dystrophy. (17217858)
2007
13
A novel mutation in the central rod domain of lamin A/C producing a phenotype resembling the Emery-Dreifuss muscular dystrophy phenotype. (17701980)
2007
14
Co-morbidity of Emery-Dreifuss muscular dystrophy and a congenital myasthenic syndrome possibly affecting the phenotype in a large Bedouin kindred. (17355552)
2007
15
Genetic pattern of 3 cases of Emery-Dreifuss muscular dystrophy in a family. (17546924)
2007
16
Distinct functional domains in nesprin-1alpha and nesprin-2beta bind directly to emerin and both interactions are disrupted in X-linked Emery-Dreifuss muscular dystrophy. (17462627)
2007
17
Lamin A/C assembly defects in Emery-Dreifuss muscular dystrophy can be regulated by culture medium composition. (16697197)
2006
18
Skeletal and cardiac muscle defects in a murine model of Emery-Dreifuss muscular dystrophy. (15773751)
2005
19
Lamins A and C are differentially dysfunctional in autosomal dominant Emery-Dreifuss muscular dystrophy. (16218190)
2005
20
Echocardiographic assessment of left ventricular morphology and function in patients with Emery-Dreifuss muscular dystrophy. (15982486)
2005
21
Expression of a mutant lamin A that causes Emery-Dreifuss muscular dystrophy inhibits in vitro differentiation of C2C12 myoblasts. (14749366)
2004
22
Cardiac transplantation in twins with autosomal dominant Emery-Dreifuss muscular dystrophy. (15063412)
2004
23
Immunocytochemistry of nuclear domains and Emery-Dreifuss muscular dystrophy pathophysiology. (12685553)
2003
24
Expression of emerin and lamins in muscle of patients with different forms of Emery-Dreifuss muscular dystrophy. (14959564)
2003
25
A comparative gene expression analysis of Emery-Dreifuss muscular dystrophy using a cDNA microarray. (12491938)
2003
26
Identification of lamin A/C (LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb- girdle muscular dystrophy 1B. (12032588)
2002
27
Frequent low penetrance mutations in the Lamin A/C gene, causing Emery Dreifuss muscular dystrophy. (12467752)
2002
28
Structural analysis of emerin, an inner nuclear membrane protein mutated in X-linked Emery-Dreifuss muscular dystrophy. (11470279)
2001
29
Identification of a novel truncating mutation (S171X) in the Emerin gene in five members of a Caucasian American family with Emery-Dreifuss muscular dystrophy. (10874323)
2000
30
Emery-Dreifuss muscular dystrophy. (10711990)
1999
31
Cardiac involvement in Emery Dreifuss muscular dystrophy: a case series. (10377322)
1999
32
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. (10080180)
1999
33
Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy. (10323252)
1999
34
Early presentation of X-linked Emery-Dreifuss muscular dystrophy resembling limb-girdle muscular dystrophy. (9608559)
1998
35
Six novel mutations in the emerin gene causing X-linked Emery-Dreifuss muscular dystrophy. (9195226)
1997
36
A novel emerin mutation in a Japanese patient with Emery-Dreifuss muscular dystrophy. (8655156)
1996
37
The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein. (8776595)
1996
38
SSCP detection of novel mutations in patients with Emery-Dreifuss muscular dystrophy: definition of a small C-terminal region required for emerin function. (8595433)
1995
39
Identification of novel mutations in three families with Emery-Dreifuss muscular dystrophy. (8595406)
1995
40
Cardiac involvement in Emery-Dreifuss muscular dystrophy: role of a diagnostic pacemaker. (7491318)
1995
41
Molecular evidence that the p55 gene is not responsible for either of two Xq28-linked disorders: Emery-Dreifuss muscular dystrophy and dyskeratosis congenita. (8178832)
1994
42
Emery-Dreifuss muscular dystrophy: linkage to markers in distal Xq28. (8445613)
1993
43
Sudden death of a carrier of X-linked Emery-Dreifuss muscular dystrophy. (8215002)
1993
44
Polycystic tumor of the atrioventricular nodal region in a man with Emery-Dreifuss muscular dystrophy. (8302717)
1993
45
European workshop on Emery-Dreifuss muscular dystrophy 1991. (1822351)
1991
46
Orthopedic deformities in Emery-Dreifuss muscular dystrophy. (2056082)
1991
47
Emery-Dreifuss muscular dystrophy: disease spectrum and differential diagnosis. (3374765)
1988
48
Localisation of the gene for Emery-Dreifuss muscular dystrophy to the distal long arm of the X chromosome. (3100805)
1986
49
The rigid spine syndrome and Emery-Dreifuss muscular dystrophy. (3802686)
1986
50
Emery-Dreifuss muscular dystrophy. (6707817)
1984

Variations for Emery-Dreifuss Muscular Dystrophy

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Clinvar genetic disease variations for Emery-Dreifuss Muscular Dystrophy:

7 (show all 18)
id Gene Variation Type Significance SNP ID Assembly Location
1FHL1NM_001159702.2(FHL1): c.672C> G (p.Cys224Trp)single nucleotide variantPathogenicrs122458141GRCh37Chr X, 135290784: 135290784
2FHL1NM_001159702.2(FHL1): c.838G> A (p.Val280Met)single nucleotide variantPathogenicrs267606811GRCh37Chr X, 135291551: 135291551
3FHL1FHL1, IVS4DS, G-A, +1single nucleotide variantPathogenic
4LMNANM_005572.3(LMNA): c.16C> T (p.Gln6Ter)single nucleotide variantPathogenicrs61046466GRCh37Chr 1, 156084725: 156084725
5LMNANM_005572.3(LMNA): c.1357C> T (p.Arg453Trp)single nucleotide variantPathogenicrs58932704GRCh37Chr 1, 156106204: 156106204
6LMNANM_005572.3(LMNA): c.1580G> C (p.Arg527Pro)single nucleotide variantPathogenicrs57520892GRCh37Chr 1, 156106995: 156106995
7LMNANM_005572.3(LMNA): c.1589T> C (p.Leu530Pro)single nucleotide variantPathogenicrs60934003GRCh37Chr 1, 156107004: 156107004
8LMNANM_005572.3(LMNA): c.959delT (p.Arg321Glufs)deletionPathogenicrs56771886GRCh37Chr 1, 156105714: 156105714
9LMNANM_005572.3(LMNA): c.664C> T (p.His222Tyr)single nucleotide variantPathogenicrs28928901GRCh37Chr 1, 156104620: 156104620
10LMNANM_005572.3(LMNA): c.398G> C (p.Arg133Pro)single nucleotide variantPathogenicrs60864230GRCh37Chr 1, 156100449: 156100449
11LMNANM_005572.3(LMNA): c.1072G> A (p.Glu358Lys)single nucleotide variantPathogenicrs60458016GRCh37Chr 1, 156105827: 156105827
12NM_182914.2(SYNE2): c.18632C> T (p.Thr6211Met)single nucleotide variantPathogenicrs36215895GRCh37Chr 14, 64676751: 64676751
13SYNE1NM_033071.3(SYNE1): c.24071G> A (p.Arg8024His)single nucleotide variantPathogenicrs119103246GRCh37Chr 6, 152473122: 152473122
14SYNE1NM_033071.3(SYNE1): c.25237G> A (p.Glu8413Lys)single nucleotide variantPathogenicrs119103248GRCh37Chr 6, 152461162: 152461162
15SYNE1SYNE1, IVS136AS, A-G, -2single nucleotide variantPathogenic
16TMEM43NM_024334.2(TMEM43): c.253G> A (p.Glu85Lys)single nucleotide variantPathogenicrs397514044GRCh37Chr 3, 14172412: 14172412
17TMEM43NM_024334.2(TMEM43): c.271A> G (p.Ile91Val)single nucleotide variantPathogenicrs144811578GRCh37Chr 3, 14172430: 14172430
18LMNANM_005572.3(LMNA): c.674G> A (p.Arg225Gln)single nucleotide variantPathogenicrs199474724GRCh37Chr 1, 156104630: 156104630

Expression for genes affiliated with Emery-Dreifuss Muscular Dystrophy

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

Pathways for genes affiliated with Emery-Dreifuss Muscular Dystrophy

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Pathways related to Emery-Dreifuss Muscular Dystrophy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.7LMNB2, LMNA
2
Show member pathways
FAS pathway and Stress induction of HSP regulation38
Apoptosis and survival FAS signaling cascades60
Caspase cascade in apoptosis38
9.7LMNB2, LMNA
39.2LMNB2, LMNA, EMD
4
Show member pathways
8.9LMNA, EMD, BANF1
5
Show member pathways
8.9BANF1, LMNA, EMD
6
Show member pathways
8.9EMD, BANF1, LMNA
7
Show member pathways
8.9BANF1, EMD, LMNA
8
Show member pathways
8.8SYNE2, SUN2, LMNA, SYNE1
9
Show member pathways
8.8SYNE2, SUN2, LMNA, SYNE1
10
Show member pathways
7.5SYNE1, SYNE2, BANF1, LMNA, SUN2, EMD

Compounds for genes affiliated with Emery-Dreifuss Muscular Dystrophy

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GO Terms for genes affiliated with Emery-Dreifuss Muscular Dystrophy

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Cellular components related to Emery-Dreifuss Muscular Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1intermediate filamentGO:00058829.7LMNA, LMNB2
2nuclear outer membraneGO:00056409.2EMD, SYNE2, SYNE1
3SUN-KASH complexGO:00349939.1SYNE1, SYNE2, SUN2
4nuclear inner membraneGO:00056378.6EMD, TMEM43, SUN2, LMNB2
5nuclear envelopeGO:00056358.5SYNE2, SYNE1, LMNA, SUN2, EMD
6nuclear membraneGO:00319658.3SYNE1, SYNE2, EMD, SUN2

Biological processes related to Emery-Dreifuss Muscular Dystrophy according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1nuclear matrix anchoring at nuclear membraneGO:00902929.7SYNE1, SUN2
2nuclear migration along microfilamentGO:00310229.6SYNE2, SUN2
3muscle organ developmentGO:00075179.5FHL1, LMNA, EMD
4nuclear migrationGO:00070979.5SUN2, SYNE2
5protein localization to nucleusGO:00345049.4SYNE2, LMNA
6nuclear envelope organizationGO:00069989.4SYNE2, SUN2
7centrosome localizationGO:00516429.3SUN2, SYNE2
8cytoskeletal anchoring at nuclear membraneGO:00902869.3SYNE2, SYNE1, SUN2
9mitotic nuclear envelope reassemblyGO:00070849.2BANF1, LMNA, EMD
10mitotic nuclear envelope disassemblyGO:00070779.1EMD, LMNA, BANF1
11mitotic cell cycleGO:00002788.9BANF1, LMNA, EMD

Molecular functions related to Emery-Dreifuss Muscular Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lamin bindingGO:00055219.4SUN2, SYNE1
2actin bindingGO:00037799.3EMD, SYNE1, SYNE2
3protein bindingGO:00055156.5EMD, TMEM43, SUN2, LMNA, SYNE1, SYNE2

Products for genes affiliated with Emery-Dreifuss Muscular Dystrophy

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Sources for Emery-Dreifuss Muscular Dystrophy

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet