EDMD4
MCID: EMR014
MIFTS: 40

Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant (EDMD4)

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

Aliases & Classifications for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

MalaCards integrated aliases for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant:

Name: Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant 56 12 73 29 13 6
Emery-Dreifuss Muscular Dystrophy 4 with Variable Features 56 12 73
Edmd4 56 12 73
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 4 12 15
Dystrophy, Muscular, Emery-Dreifuss, Type 4, Autosomal Dominant 39
Emery-Dreifuss Muscular Dystrophy 4 71
Emd4 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
two unrelated patients have been reported (last curated july 2019)


HPO:

31
emery-dreifuss muscular dystrophy 4, autosomal dominant:
Inheritance autosomal dominant inheritance
Onset and clinical course childhood onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0070249
OMIM 56 612998
OMIM Phenotypic Series 56 PS310300
MeSH 43 D020389
MedGen 41 C2751807
UMLS 71 C2751807

Summaries for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

UniProtKB/Swiss-Prot : 73 Emery-Dreifuss muscular dystrophy 4, autosomal dominant: A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects.

MalaCards based summary : Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant, also known as emery-dreifuss muscular dystrophy 4 with variable features, is related to arthrogryposis multiplex congenita, myogenic type and first-degree atrioventricular block. An important gene associated with Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant is SYNE1 (Spectrin Repeat Containing Nuclear Envelope Protein 1), and among its related pathways/superpathways are Cell Cycle, Mitotic and Meiosis. Affiliated tissues include bone, and related phenotypes are proximal muscle weakness and muscular dystrophy

Disease Ontology : 12 An Emery-Dreifuss muscular dystrophy that has material basis in an autosomal dominant mutation of SYNE1 on chromosome 6q25.2.

More information from OMIM: 612998 PS310300

Related Diseases for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

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

Diseases related to Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
# Related Disease Score Top Affiliating Genes
1 arthrogryposis multiplex congenita, myogenic type 10.3 SYNE1 ESR1
2 first-degree atrioventricular block 10.1 LMNA EMD
3 spinocerebellar ataxia, autosomal recessive 8 10.1 SYNE1-AS1 SYNE1 ESR1
4 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.1 TMEM43 LMNA
5 lipodystrophy, familial partial, type 5 10.1 LMNA EMD
6 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.0 TMEM43 LMNA
7 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.0 TMEM43 LMNA
8 osteopoikilosis 10.0 LMNA EMD
9 autosomal dominant limb-girdle muscular dystrophy 10.0 LMNA EMD
10 left bundle branch hemiblock 10.0 TMEM43 LMNA
11 muscular dystrophy, congenital merosin-deficient, 1a 10.0 LMNA EMD
12 leukodystrophy, demyelinating, adult-onset, autosomal dominant 9.9 SYNE1 LMNA EMD
13 reynolds syndrome 9.7 SUN2 LMNA
14 x-linked emery-dreifuss muscular dystrophy 9.7 SYNE2 SYNE1 LMNA EMD
15 familial partial lipodystrophy 9.7 LMNA EMD
16 pelger-huet anomaly 9.6 SYNE2 SYNE1 LMNA EMD
17 charcot-marie-tooth disease, axonal, type 2b1 9.6 TMEM43 SYNE1 LMNA EMD
18 arrhythmogenic right ventricular cardiomyopathy 9.6 TMEM43 LMNA EMD
19 myopathy, x-linked, with postural muscle atrophy 9.5 TMEM43 SUN2 EMD
20 emerinopathy 9.5 SUN2 LMNA EMD
21 long qt syndrome 9.5 TMEM43 SYNE2 LMNA
22 cardiomyopathy, dilated, 1a 9.4 TMEM43 SYNE2 SYNE1 LMNA EMD
23 cardiomyopathy, dilated, 1h 9.3 SYNE1 SUN2 LMNA EMD
24 neuromuscular disease 9.3 SUN2 LMNA EMD
25 laminopathy 9.3 SYNE2 SUN2 LMNA EMD
26 emery-dreifuss muscular dystrophy 5, autosomal dominant 9.1 SYNE2 SYNE1 SUN2 LMNA EMD
27 hutchinson-gilford progeria syndrome 9.0 SYNE2 SYNE1 SUN2 LMNA EMD
28 muscular disease 8.8 SYNE2 SYNE1 SUN2 LMNA ESR1 EMD
29 emery-dreifuss muscular dystrophy 3, autosomal recessive 8.8 TMEM43 SYNE2 SYNE1 SUN2 LMNA EMD
30 emery-dreifuss muscular dystrophy 7, autosomal dominant 8.8 TMEM43 SYNE2 SYNE1 SUN2 LMNA EMD
31 emery-dreifuss muscular dystrophy 1, x-linked 8.7 TMEM43 SYNE2 SYNE1 SUN2 LMNA EMD
32 muscular dystrophy, congenital, lmna-related 8.7 TMEM43 SYNE2 SYNE1 SUN2 LMNA EMD
33 dilated cardiomyopathy 8.7 TMEM43 SYNE2 SYNE1 SUN2 LMNA EMD
34 muscular dystrophy 8.5 TMEM43 SYNE2 SYNE1 SUN2 LMNA ESR1
35 emery-dreifuss muscular dystrophy 2, autosomal dominant 8.4 TMEM43 SYNE2 SYNE1 SUN2 LMNA FAM169A
36 emery-dreifuss muscular dystrophy 8.3 TMEM43 SYNE2 SYNE1-AS1 SYNE1 SUN2 LMNA

Graphical network of the top 20 diseases related to Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant:



Diseases related to Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

Symptoms & Phenotypes for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

Human phenotypes related to Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 proximal muscle weakness 31 HP:0003701
2 muscular dystrophy 31 HP:0003560
3 neck muscle weakness 31 HP:0000467
4 proximal amyotrophy 31 HP:0007126
5 elevated serum creatine kinase 31 HP:0003236
6 ventricular septal hypertrophy 31 HP:0005144

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Neck:
neck muscle weakness
neck muscle atrophy

Muscle Soft Tissue:
muscle biopsy shows dystrophic pattern
muscle weakness and atrophy, proximal

Laboratory Abnormalities:
increased serum creatine kinase

Cardiovascular Heart:
ventricular and septal hypertrophy
mild diastolic dysfunction

Clinical features from OMIM:

612998

MGI Mouse Phenotypes related to Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.1 EMD ESR1 LMNA SUN2 SYNE1 SYNE2

Drugs & Therapeutics for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

Genetic Tests for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

Genetic tests related to Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant 29 SYNE1

Anatomical Context for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

MalaCards organs/tissues related to Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant:

40
Bone

Publications for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

Articles related to Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant:

# Title Authors PMID Year
1
Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity. 56 6
17761684 2007
2
Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. 6
25313375 2014
3
Emery-Dreifuss Muscular Dystrophy 6
20301609 2004
4
Properties of a Bacteriocin Produced by Bacillus subtilis EMD4 Isolated from Ganjang (Soy Sauce). 61
26017225 2015
5
Characterization of antinociceptive potency of endomorphin-2 derivatives with unnatural amino acids in rats. 61
22982723 2012

Variations for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

ClinVar genetic disease variations for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant:

6 (show top 50) (show all 457) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SYNE1 NM_182961.4(SYNE1):c.15918-12A>GSNV Pathogenic 2326 rs606231134 6:152643033-152643033 6:152321898-152321898
2 SYNE1 NM_182961.4(SYNE1):c.24284G>A (p.Arg8095His)SNV Pathogenic 2332 rs119103246 6:152473122-152473122 6:152151987-152151987
3 SYNE1 NM_182961.4(SYNE1):c.18682C>T (p.Gln6228Ter)SNV Pathogenic 379571 rs910956017 6:152590313-152590313 6:152269178-152269178
4 SYNE1 NC_000006.11:g.(?_152443551)_(153748051_?)deldeletion Pathogenic 538429 6:152443551-153748051 6:152122416-153426916
5 SYNE1 NM_182961.4(SYNE1):c.24221C>G (p.Ser8074Ter)SNV Pathogenic 650439 6:152473185-152473185 6:152152050-152152050
6 SYNE1 NM_182961.4(SYNE1):c.17215C>T (p.Gln5739Ter)SNV Pathogenic 571581 rs746328978 6:152629755-152629755 6:152308620-152308620
7 SYNE1 NM_182961.4(SYNE1):c.1217_1218CT[1] (p.Leu407fs)short repeat Pathogenic 568019 rs1564367104 6:152804350-152804351 6:152483215-152483216
8 SYNE1 NM_182961.4(SYNE1):c.4513G>T (p.Glu1505Ter)SNV Pathogenic 662396 6:152751793-152751793 6:152430658-152430658
9 SYNE1 NM_182961.4(SYNE1):c.23461-1G>ASNV Pathogenic 638338 6:152497696-152497696 6:152176561-152176561
10 SYNE1 NM_182961.4(SYNE1):c.551T>A (p.Leu184Ter)SNV Pathogenic 650230 6:152831358-152831358 6:152510223-152510223
11 SYNE1 NM_182961.4(SYNE1):c.19260+2T>CSNV Likely pathogenic 650466 6:152576724-152576724 6:152255589-152255589
12 SYNE1 NM_182961.4(SYNE1):c.10608+1G>CSNV Likely pathogenic 659334 6:152679507-152679507 6:152358372-152358372
13 SYNE1 NM_182961.4(SYNE1):c.4975_4976+8deldeletion Likely pathogenic 655334 6:152749332-152749341 6:152428197-152428206
14 SYNE1 NM_182961.4(SYNE1):c.15567G>A (p.Trp5189Ter)SNV Likely pathogenic 522959 rs1554451078 6:152646309-152646309 6:152325174-152325174
15 SYNE1 NM_182961.4(SYNE1):c.4499T>A (p.Ile1500Asn)SNV Likely pathogenic 208449 rs746438011 6:152751807-152751807 6:152430672-152430672
16 SYNE1 NM_182961.4(SYNE1):c.4822G>A (p.Ala1608Thr)SNV Conflicting interpretations of pathogenicity 197018 rs138617999 6:152749494-152749494 6:152428359-152428359
17 SYNE1 NM_182961.4(SYNE1):c.14263C>T (p.Leu4755Phe)SNV Conflicting interpretations of pathogenicity 198671 rs41301343 6:152651557-152651557 6:152330422-152330422
18 SYNE1 NM_182961.4(SYNE1):c.15337G>A (p.Val5113Ile)SNV Conflicting interpretations of pathogenicity 198681 rs139170018 6:152647194-152647194 6:152326059-152326059
19 SYNE1 NM_182961.4(SYNE1):c.19635G>T (p.Arg6545Ser)SNV Conflicting interpretations of pathogenicity 193777 rs147143947 6:152565729-152565729 6:152244594-152244594
20 SYNE1 NM_182961.4(SYNE1):c.24723C>G (p.His8241Gln)SNV Conflicting interpretations of pathogenicity 194306 rs141586001 6:152469433-152469433 6:152148298-152148298
21 SYNE1 NM_182961.4(SYNE1):c.3074A>T (p.Asp1025Val)SNV Conflicting interpretations of pathogenicity 195990 rs143093185 6:152772294-152772294 6:152451159-152451159
22 SYNE1 NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys)SNV Conflicting interpretations of pathogenicity 2334 rs119103248 6:152461162-152461162 6:152140027-152140027
23 SYNE1 NM_182961.4(SYNE1):c.3669+4C>GSNV Conflicting interpretations of pathogenicity 130440 rs376511242 6:152768589-152768589 6:152447454-152447454
24 SYNE1 NM_182961.4(SYNE1):c.11675T>C (p.Leu3892Ser)SNV Conflicting interpretations of pathogenicity 92125 rs180727534 6:152671811-152671811 6:152350676-152350676
25 SYNE1 NM_182961.4(SYNE1):c.4884G>A (p.Glu1628=)SNV Conflicting interpretations of pathogenicity 281295 rs886042121 6:152749432-152749432 6:152428297-152428297
26 SYNE1 NM_182961.4(SYNE1):c.11218A>G (p.Thr3740Ala)SNV Conflicting interpretations of pathogenicity 282114 rs144797744 6:152674433-152674433 6:152353298-152353298
27 SYNE1 NM_182961.4(SYNE1):c.8360C>T (p.Thr2787Met)SNV Conflicting interpretations of pathogenicity 282295 rs142676206 6:152708334-152708334 6:152387199-152387199
28 SYNE1 NM_182961.4(SYNE1):c.3271C>T (p.Arg1091Trp)SNV Conflicting interpretations of pathogenicity 282489 rs147841761 6:152771884-152771884 6:152450749-152450749
29 SYNE1 NM_182961.4(SYNE1):c.13909G>A (p.Asp4637Asn)SNV Conflicting interpretations of pathogenicity 282531 rs142388112 6:152651911-152651911 6:152330776-152330776
30 SYNE1 NM_182961.4(SYNE1):c.12584del (p.Lys4195fs)deletion Conflicting interpretations of pathogenicity 282324 rs886042380 6:152655353-152655353 6:152334218-152334218
31 SYNE1 NM_182961.4(SYNE1):c.24717C>G (p.His8239Gln)SNV Conflicting interpretations of pathogenicity 283021 rs201548223 6:152469439-152469439 6:152148304-152148304
32 SYNE1 NM_182961.4(SYNE1):c.21952G>A (p.Ala7318Thr)SNV Conflicting interpretations of pathogenicity 284257 rs145494541 6:152540230-152540230 6:152219095-152219095
33 SYNE1 NM_182961.4(SYNE1):c.18789G>A (p.Ser6263=)SNV Conflicting interpretations of pathogenicity 290551 rs150905950 6:152589217-152589217 6:152268082-152268082
34 SYNE1 NM_182961.4(SYNE1):c.20730G>C (p.Leu6910=)SNV Conflicting interpretations of pathogenicity 355838 rs367864272 6:152553383-152553383 6:152232248-152232248
35 SYNE1 NM_182961.4(SYNE1):c.245G>T (p.Arg82Leu)SNV Conflicting interpretations of pathogenicity 285644 rs143900928 6:152841658-152841658 6:152520523-152520523
36 SYNE1 NM_182961.4(SYNE1):c.7175T>C (p.Val2392Ala)SNV Conflicting interpretations of pathogenicity 355914 rs199558070 6:152720813-152720813 6:152399678-152399678
37 SYNE1 NM_182961.4(SYNE1):c.18999G>C (p.Leu6333Phe)SNV Conflicting interpretations of pathogenicity 355844 rs141934037 6:152577874-152577874 6:152256739-152256739
38 SYNE1 NM_182961.4(SYNE1):c.22913G>A (p.Gly7638Asp)SNV Conflicting interpretations of pathogenicity 283618 rs142117628 6:152527409-152527409 6:152206274-152206274
39 SYNE1 NM_182961.4(SYNE1):c.19026C>T (p.Asp6342=)SNV Conflicting interpretations of pathogenicity 285329 rs370053768 6:152577847-152577847 6:152256712-152256712
40 SYNE1 NM_182961.4(SYNE1):c.14018G>A (p.Arg4673Gln)SNV Conflicting interpretations of pathogenicity 285677 rs144963785 6:152651802-152651802 6:152330667-152330667
41 SYNE1 NM_182961.4(SYNE1):c.5125C>A (p.Gln1709Lys)SNV Conflicting interpretations of pathogenicity 286235 rs140005424 6:152746658-152746658 6:152425523-152425523
42 SYNE1 NM_182961.4(SYNE1):c.21149G>A (p.Arg7050Gln)SNV Conflicting interpretations of pathogenicity 287711 rs143639400 6:152551728-152551728 6:152230593-152230593
43 SYNE1 NM_182961.4(SYNE1):c.25086G>A (p.Thr8362=)SNV Conflicting interpretations of pathogenicity 515411 rs377302991 6:152464791-152464791 6:152143656-152143656
44 SYNE1 NM_182961.4(SYNE1):c.24977-1718G>ASNV Conflicting interpretations of pathogenicity 514025 rs370143116 6:152466618-152466618 6:152145483-152145483
45 SYNE1 NM_182961.4(SYNE1):c.23406A>G (p.Lys7802=)SNV Conflicting interpretations of pathogenicity 538419 rs780485635 6:152501325-152501325 6:152180190-152180190
46 SYNE1 NM_182961.4(SYNE1):c.6908C>T (p.Thr2303Met)SNV Conflicting interpretations of pathogenicity 355916 rs190867604 6:152722394-152722394 6:152401259-152401259
47 SYNE1 NM_182961.4(SYNE1):c.310-468G>ASNV Conflicting interpretations of pathogenicity 355949 rs143635963 6:152832706-152832706 6:152511571-152511571
48 SYNE1 NM_182961.4(SYNE1):c.14115C>T (p.Ala4705=)SNV Conflicting interpretations of pathogenicity 470998 rs377739292 6:152651705-152651705 6:152330570-152330570
49 SYNE1 NM_182961.4(SYNE1):c.1290C>T (p.Thr430=)SNV Conflicting interpretations of pathogenicity 470996 rs755709525 6:152804280-152804280 6:152483145-152483145
50 SYNE1 NM_182961.4(SYNE1):c.14625G>A (p.Thr4875=)SNV Conflicting interpretations of pathogenicity 498973 rs140118684 6:152651195-152651195 6:152330060-152330060

UniProtKB/Swiss-Prot genetic disease variations for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant:

73
# Symbol AA change Variation ID SNP ID
1 SYNE1 p.Arg8095His VAR_062974 rs119103246
2 SYNE1 p.Val8387Leu VAR_062975 rs119103247
3 SYNE1 p.Glu8461Lys VAR_062976 rs119103248

Expression for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

Search GEO for disease gene expression data for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant.

Pathways for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

Pathways related to Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.71 SYNE2 SYNE1 SUN2 LMNA EMD
2
Show member pathways
11.39 SYNE2 SYNE1 SUN2 LMNA
3
Show member pathways
10.47 LMNA EMD

GO Terms for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

Cellular components related to Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.06 TMEM43 SYNE2 SYNE1 SUN2 LMNA ESR1
2 nuclear membrane GO:0031965 9.65 SYNE2 SYNE1 SUN2 LMNA EMD
3 nuclear outer membrane GO:0005640 9.5 SYNE2 SYNE1 EMD
4 integral component of nuclear inner membrane GO:0005639 9.37 TMEM43 SUN2
5 meiotic nuclear membrane microtubule tethering complex GO:0034993 9.33 SYNE2 SYNE1 SUN2
6 nuclear inner membrane GO:0005637 9.26 TMEM43 SUN2 FAM169A EMD
7 nuclear envelope GO:0005635 9.1 SYNE2 SYNE1 SUN2 LMNA FAM169A EMD

Biological processes related to Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus organization GO:0006997 9.46 SYNE1 LMNA
2 nuclear envelope organization GO:0006998 9.43 SUN2 LMNA
3 centrosome localization GO:0051642 9.4 SYNE2 SUN2
4 nuclear migration GO:0007097 9.37 SYNE2 SUN2
5 mitotic nuclear envelope reassembly GO:0007084 9.32 LMNA EMD
6 nuclear matrix anchoring at nuclear membrane GO:0090292 9.26 SYNE1 SUN2
7 nucleokinesis involved in cell motility in cerebral cortex radial glia guided migration GO:0021817 9.16 SYNE2 SUN2
8 nuclear migration along microfilament GO:0031022 8.96 SYNE2 SUN2
9 cytoskeletal anchoring at nuclear membrane GO:0090286 8.8 SYNE2 SYNE1 SUN2

Molecular functions related to Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lamin binding GO:0005521 8.62 SYNE1 SUN2

Sources for Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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