EDMD5
MCID: EMR015
MIFTS: 41

Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant (EDMD5)

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

Aliases & Classifications for Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant

MalaCards integrated aliases for Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant:

Name: Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant 57 12 72 29 13 6 70
Edmd5 57 12 72
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 5 12 15
Dystrophy, Muscular, Emery-Dreifuss, Type 5, Autosomal Dominant 39
Emd5 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
onset in childhood


HPO:

31
emery-dreifuss muscular dystrophy 5, autosomal dominant:
Inheritance autosomal dominant inheritance
Onset and clinical course childhood onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0070250
OMIM® 57 612999
OMIM Phenotypic Series 57 PS310300
MeSH 44 D020389
MedGen 41 C2751805
UMLS 70 C2751805

Summaries for Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant

UniProtKB/Swiss-Prot : 72 Emery-Dreifuss muscular dystrophy 5, 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 5, Autosomal Dominant, also known as edmd5, is related to familial isolated arrhythmogenic ventricular dysplasia, left dominant form and cardiomyopathy, dilated, with hypergonadotropic hypogonadism. An important gene associated with Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant is SYNE2 (Spectrin Repeat Containing Nuclear Envelope Protein 2), and among its related pathways/superpathways are Cell Cycle, Mitotic and Meiosis. Related phenotypes are respiratory insufficiency and elevated serum creatine kinase

Disease Ontology : 12 An Emery-Dreifuss muscular dystrophy that has material basis in an autosomal dominant mutation of SYNE2 on chromosome 14q23.2.

More information from OMIM: 612999 PS310300

Related Diseases for Emery-Dreifuss Muscular Dystrophy 5, 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 5, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)
# Related Disease Score Top Affiliating Genes
1 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.1 TMEM43 LMNA
2 cardiomyopathy, dilated, with hypergonadotropic hypogonadism 10.1 SYNE2 LMNA
3 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.1 TMEM43 LMNA
4 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.1 TMEM43 LMNA
5 left bundle branch hemiblock 10.0 TMEM43 LMNA
6 arrhythmogenic right ventricular dysplasia, familial, 9 10.0 TMEM43 LMNA
7 reynolds syndrome 10.0 SUN2 LMNA
8 muscular dystrophy, congenital merosin-deficient, 1a 9.9 POMT2 LMNA
9 arrhythmogenic right ventricular dysplasia, familial, 5 9.9 TMEM43 EMD
10 first-degree atrioventricular block 9.8 LMNA EMD
11 lipodystrophy, familial partial, type 5 9.8 LMNA EMD
12 autosomal dominant limb-girdle muscular dystrophy 9.7 LMNA EMD
13 scapuloperoneal myopathy, x-linked dominant 9.7 FHL1 EMD
14 leukodystrophy, demyelinating, adult-onset, autosomal dominant 9.7 SYNE2 LMNA EMD
15 osteopoikilosis 9.7 SYNE2 LMNA EMD
16 rigid spine muscular dystrophy 1 9.6 LMNA FHL1 EMD
17 emerinopathy 9.6 SUN2 LMNA EMD
18 familial partial lipodystrophy 9.6 LMNA EMD
19 atrial standstill 1 9.6 TMEM43 LMNA EMD
20 long qt syndrome 9.6 TMEM43 SYNE2 LMNA
21 bethlem myopathy 1 9.5 POMT2 LMNA EMD
22 muscle tissue disease 9.5 POMT2 LMNA EMD
23 arrhythmogenic right ventricular cardiomyopathy 9.5 TMEM43 LMNA EMD
24 buschke-ollendorff syndrome 9.5 SYNE2 SYNE1 LMNA EMD
25 walker-warburg syndrome 9.5 POMT2 LMNA EMD
26 neuromuscular disease 9.4 SUN2 LMNA EMD
27 pelger-huet anomaly 9.3 SYNE2 SYNE1 SUN1 LMNA EMD
28 x-linked emery-dreifuss muscular dystrophy 9.3 SYNE2 SYNE1 LMNA FHL1 EMD
29 hypertrophic cardiomyopathy 9.3 TMEM43 LMNA FHL1 EMD
30 laminopathy 9.2 SYNE2 SUN2 SUN1 LMNA EMD
31 emery-dreifuss muscular dystrophy 7, autosomal dominant 9.2 TMEM43 SYNE2 SYNE1 SUN2 SUN1 EMD
32 cardiomyopathy, dilated, 1a 9.1 TMEM43 SYNE2 SYNE1 SUN1 LMNA EMD
33 greenberg dysplasia 9.1 SYNE2 SYNE1 SUN2 SUN1 LMNA EMD
34 spinocerebellar ataxia, autosomal recessive 8 9.1 SYNE2 SYNE1 SUN2 SUN1 LMNA EMD
35 dilated cardiomyopathy 9.1 TMEM43 SYNE2 SYNE1 SUN2 LMNA EMD
36 hutchinson-gilford progeria syndrome 9.1 SYNE2 SYNE1 SUN2 SUN1 LMNA EMD
37 emery-dreifuss muscular dystrophy 3, autosomal recessive 8.9 TMEM43 SYNE2 SYNE1 SUN2 SUN1 LMNA
38 charcot-marie-tooth disease, axonal, type 2b1 8.9 TMEM43 SYNE2 SYNE1 SUN2 SUN1 LMNA
39 emery-dreifuss muscular dystrophy 1, x-linked 8.9 TMEM43 SYNE2 SYNE1 SUN2 SUN1 LMNA
40 emery-dreifuss muscular dystrophy 2, autosomal dominant 8.9 TMEM43 SYNE2 SYNE1 SUN2 SUN1 LMNA
41 myopathy 8.9 TMEM43 SYNE2 SYNE1 SUN2 LMNA FHL1
42 emery-dreifuss muscular dystrophy 4, autosomal dominant 8.8 TMEM43 TMEM214 SYNE2 SYNE1 LMNA FHL1
43 cardiomyopathy, dilated, 1h 8.6 TMEM43 TMEM214 SYNE2 SYNE1 SUN2 SUN1
44 myopathy, x-linked, with postural muscle atrophy 8.5 TMEM43 TMEM214 SYNE2 SYNE1 SUN2 LMNA
45 muscular dystrophy 8.4 TMEM43 SYNE2 SYNE1 SUN2 SUN1 POMT2
46 muscular dystrophy, congenital, lmna-related 8.4 TMEM43 SYNE2 SYNE1 SUN2 SUN1 POMT2
47 emery-dreifuss muscular dystrophy 8.3 TMEM43 TMEM214 SYNE2 SYNE1 SUN2 SUN1

Graphical network of the top 20 diseases related to Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant:



Diseases related to Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant

Symptoms & Phenotypes for Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant

Human phenotypes related to Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 respiratory insufficiency 31 HP:0002093
2 elevated serum creatine kinase 31 HP:0003236
3 arrhythmia 31 HP:0011675
4 muscular dystrophy 31 HP:0003560
5 proximal amyotrophy 31 HP:0007126
6 cardiomyopathy 31 HP:0001638
7 proximal muscle weakness 31 HP:0003701

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Respiratory:
respiratory insufficiency

Laboratory Abnormalities:
increased serum creatine kinase

Cardiovascular Heart:
cardiomyopathy
arrhythmias

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

Clinical features from OMIM®:

612999 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.8 EMD FHL1 LMNA SUN1 SYNE1 SYNE2
2 cellular MP:0005384 9.7 EMD LMNA POMT2 SUN1 SUN2 SYNE1
3 muscle MP:0005369 9.5 EMD FHL1 LMNA SUN1 SUN2 SYNE1
4 nervous system MP:0003631 9.17 FHL1 LMNA POMT2 SUN1 SUN2 SYNE1

Drugs & Therapeutics for Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant

Genetic Tests for Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant

Genetic tests related to Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant 29 SYNE2

Anatomical Context for Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant

Publications for Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant

Articles related to Emery-Dreifuss Muscular Dystrophy 5, 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. 6 57
17761684 2007
2
Nesprin-2 mediated nuclear trafficking and its clinical implications. 61
26645154 2015

Variations for Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant

ClinVar genetic disease variations for Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant:

6 (show top 50) (show all 1244)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SYNE2 NM_182914.2(SYNE2):c.18632C>T (p.Thr6211Met) SNV Conflicting interpretations of pathogenicity 2324 rs36215895 GRCh37: 14:64676751-64676751
GRCh38: 14:64210033-64210033
2 SYNE2 NM_182914.2(SYNE2):c.19136G>A (p.Arg6379His) SNV Conflicting interpretations of pathogenicity 313647 rs150629598 GRCh37: 14:64680991-64680991
GRCh38: 14:64214273-64214273
3 SYNE2 NM_182914.2(SYNE2):c.418C>G (p.Leu140Val) SNV Conflicting interpretations of pathogenicity 313485 rs761503203 GRCh37: 14:64416552-64416552
GRCh38: 14:63949834-63949834
4 SYNE2 NM_182914.2(SYNE2):c.6664C>G (p.Pro2222Ala) SNV Conflicting interpretations of pathogenicity 313525 rs201838350 GRCh37: 14:64494461-64494461
GRCh38: 14:64027743-64027743
5 SYNE2 NM_182914.2(SYNE2):c.20203G>A (p.Glu6735Lys) SNV Conflicting interpretations of pathogenicity 283703 rs138789938 GRCh37: 14:64689919-64689919
GRCh38: 14:64223201-64223201
6 SYNE2 NM_182914.2(SYNE2):c.18190G>A (p.Ala6064Thr) SNV Conflicting interpretations of pathogenicity 313637 rs182079744 GRCh37: 14:64669670-64669670
GRCh38: 14:64202952-64202952
7 SYNE2 NM_182914.2(SYNE2):c.6685C>G (p.Leu2229Val) SNV Conflicting interpretations of pathogenicity 281273 rs375543783 GRCh37: 14:64494482-64494482
GRCh38: 14:64027764-64027764
8 SYNE2 NM_182914.2(SYNE2):c.8003T>G (p.Leu2668Trp) SNV Conflicting interpretations of pathogenicity 313535 rs143558316 GRCh37: 14:64518634-64518634
GRCh38: 14:64051916-64051916
9 SYNE2 NM_182914.2(SYNE2):c.3506G>A (p.Arg1169His) SNV Conflicting interpretations of pathogenicity 282514 rs200437377 GRCh37: 14:64467305-64467305
GRCh38: 14:64000587-64000587
10 SYNE2 NM_182914.2(SYNE2):c.4912T>C (p.Tyr1638His) SNV Conflicting interpretations of pathogenicity 313509 rs146801942 GRCh37: 14:64484337-64484337
GRCh38: 14:64017619-64017619
11 SYNE2 NM_182914.2(SYNE2):c.13526G>A (p.Arg4509His) SNV Conflicting interpretations of pathogenicity 313588 rs200946949 GRCh37: 14:64591900-64591900
GRCh38: 14:64125182-64125182
12 SYNE2 NM_182914.2(SYNE2):c.2402A>G (p.Gln801Arg) SNV Conflicting interpretations of pathogenicity 470968 rs200848069 GRCh37: 14:64457217-64457217
GRCh38: 14:63990499-63990499
13 SYNE2 NM_182914.2(SYNE2):c.1318C>T (p.His440Tyr) SNV Conflicting interpretations of pathogenicity 313487 rs761844853 GRCh37: 14:64444647-64444647
GRCh38: 14:63977929-63977929
14 SYNE2 NM_182914.2(SYNE2):c.13570G>A (p.Glu4524Lys) SNV Conflicting interpretations of pathogenicity 313589 rs143646847 GRCh37: 14:64593060-64593060
GRCh38: 14:64126342-64126342
15 SYNE2 NM_182914.2(SYNE2):c.20542C>T (p.Arg6848Cys) SNV Conflicting interpretations of pathogenicity 193957 rs201472187 GRCh37: 14:64692062-64692062
GRCh38: 14:64225344-64225344
16 SYNE2 NM_182914.2(SYNE2):c.14980T>C (p.Phe4994Leu) SNV Conflicting interpretations of pathogenicity 313602 rs747348017 GRCh37: 14:64608062-64608062
GRCh38: 14:64141344-64141344
17 SYNE2 NM_182914.2(SYNE2):c.12695C>T (p.Pro4232Leu) SNV Conflicting interpretations of pathogenicity 470925 rs139959852 GRCh37: 14:64580144-64580144
GRCh38: 14:64113426-64113426
18 SYNE2 NM_182914.2(SYNE2):c.10218G>T (p.Leu3406Phe) SNV Conflicting interpretations of pathogenicity 470909 rs201421128 GRCh37: 14:64532155-64532155
GRCh38: 14:64065437-64065437
19 SYNE2 NM_182914.2(SYNE2):c.14528T>A (p.Phe4843Tyr) SNV Conflicting interpretations of pathogenicity 281790 rs141488398 GRCh37: 14:64600800-64600800
GRCh38: 14:64134082-64134082
20 SYNE2 NM_182914.2(SYNE2):c.7708G>A (p.Glu2570Lys) SNV Conflicting interpretations of pathogenicity 538323 rs376507352 GRCh37: 14:64518339-64518339
GRCh38: 14:64051621-64051621
21 SYNE2 NM_182914.2(SYNE2):c.8911C>G (p.Gln2971Glu) SNV Conflicting interpretations of pathogenicity 197606 rs200909650 GRCh37: 14:64519542-64519542
GRCh38: 14:64052824-64052824
22 SYNE2 NM_182914.2(SYNE2):c.18963G>T (p.Leu6321=) SNV Conflicting interpretations of pathogenicity 313644 rs757232346 GRCh37: 14:64679630-64679630
GRCh38: 14:64212912-64212912
23 SYNE2 NM_182914.2(SYNE2):c.12381+6G>A SNV Conflicting interpretations of pathogenicity 538363 rs781486571 GRCh37: 14:64565545-64565545
GRCh38: 14:64098827-64098827
24 SYNE2 NM_182914.2(SYNE2):c.14518T>C (p.Trp4840Arg) SNV Conflicting interpretations of pathogenicity 569670 rs148323208 GRCh37: 14:64600790-64600790
GRCh38: 14:64134072-64134072
25 SYNE2 NM_182914.2(SYNE2):c.9700G>C (p.Glu3234Gln) SNV Conflicting interpretations of pathogenicity 313548 rs372597797 GRCh37: 14:64520331-64520331
GRCh38: 14:64053613-64053613
26 SYNE2 NM_182914.2(SYNE2):c.7310A>G (p.Asn2437Ser) SNV Conflicting interpretations of pathogenicity 571942 rs373880647 GRCh37: 14:64514806-64514806
GRCh38: 14:64048088-64048088
27 SYNE2 NM_182914.2(SYNE2):c.16754G>A (p.Arg5585His) SNV Conflicting interpretations of pathogenicity 571972 rs141144237 GRCh37: 14:64634099-64634099
GRCh38: 14:64167381-64167381
28 SYNE2 NM_182914.2(SYNE2):c.15857A>G (p.Tyr5286Cys) SNV Conflicting interpretations of pathogenicity 198965 rs149354607 GRCh37: 14:64625407-64625407
GRCh38: 14:64158689-64158689
29 SYNE2 NM_182914.2(SYNE2):c.7976G>A (p.Arg2659Gln) SNV Conflicting interpretations of pathogenicity 197605 rs199561218 GRCh37: 14:64518607-64518607
GRCh38: 14:64051889-64051889
30 SYNE2 NM_182914.2(SYNE2):c.10947G>A (p.Met3649Ile) SNV Conflicting interpretations of pathogenicity 568119 rs772140514 GRCh37: 14:64542743-64542743
GRCh38: 14:64076025-64076025
31 SYNE2 NM_182914.2(SYNE2):c.12614C>T (p.Thr4205Ile) SNV Conflicting interpretations of pathogenicity 313577 rs376207235 GRCh37: 14:64580063-64580063
GRCh38: 14:64113345-64113345
32 SYNE2 NM_182914.2(SYNE2):c.8005A>G (p.Thr2669Ala) SNV Conflicting interpretations of pathogenicity 283270 rs374946613 GRCh37: 14:64518636-64518636
GRCh38: 14:64051918-64051918
33 SYNE2 NM_182914.2(SYNE2):c.19441G>C (p.Asp6481His) SNV Conflicting interpretations of pathogenicity 313651 rs202052357 GRCh37: 14:64683004-64683004
GRCh38: 14:64216286-64216286
34 SYNE2 NM_182914.2(SYNE2):c.2270T>C (p.Leu757Ser) SNV Conflicting interpretations of pathogenicity 313494 rs200319405 GRCh37: 14:64453292-64453292
GRCh38: 14:63986574-63986574
35 SYNE2 NM_182914.2(SYNE2):c.6511C>G (p.Leu2171Val) SNV Conflicting interpretations of pathogenicity 313524 rs199743242 GRCh37: 14:64494308-64494308
GRCh38: 14:64027590-64027590
36 SYNE2 NM_182914.2(SYNE2):c.7762G>A (p.Val2588Met) SNV Conflicting interpretations of pathogenicity 376965 rs373690979 GRCh37: 14:64518393-64518393
GRCh38: 14:64051675-64051675
37 SYNE2 NM_182914.2(SYNE2):c.5155A>G (p.Met1719Val) SNV Conflicting interpretations of pathogenicity 448633 rs189676187 GRCh37: 14:64488036-64488036
GRCh38: 14:64021318-64021318
38 SYNE2 NM_182914.2(SYNE2):c.3830G>A (p.Arg1277His) SNV Conflicting interpretations of pathogenicity 282516 rs367549881 GRCh37: 14:64469481-64469481
GRCh38: 14:64002763-64002763
39 SYNE2 NM_182914.2(SYNE2):c.2477A>G (p.Asn826Ser) SNV Conflicting interpretations of pathogenicity 313495 rs372150492 GRCh37: 14:64457664-64457664
GRCh38: 14:63990946-63990946
40 SYNE2 NM_182914.2(SYNE2):c.14139+5G>A SNV Conflicting interpretations of pathogenicity 283963 rs374778697 GRCh37: 14:64596624-64596624
GRCh38: 14:64129906-64129906
41 SYNE2 NM_182914.2(SYNE2):c.18232G>A (p.Ala6078Thr) SNV Conflicting interpretations of pathogenicity 313638 rs149128439 GRCh37: 14:64675506-64675506
GRCh38: 14:64208788-64208788
42 SYNE2 NM_182914.2(SYNE2):c.8691G>C (p.Glu2897Asp) SNV Conflicting interpretations of pathogenicity 313537 rs758754933 GRCh37: 14:64519322-64519322
GRCh38: 14:64052604-64052604
43 SYNE2 NM_182914.2(SYNE2):c.13156C>G (p.Gln4386Glu) SNV Conflicting interpretations of pathogenicity 313584 rs140277551 GRCh37: 14:64587777-64587777
GRCh38: 14:64121059-64121059
44 SYNE2 NM_182914.2(SYNE2):c.4178G>A (p.Arg1393Gln) SNV Conflicting interpretations of pathogenicity 283207 rs117647282 GRCh37: 14:64469829-64469829
GRCh38: 14:64003111-64003111
45 SYNE2 NM_182914.2(SYNE2):c.12660A>G (p.Gln4220=) SNV Conflicting interpretations of pathogenicity 664265 rs745820221 GRCh37: 14:64580109-64580109
GRCh38: 14:64113391-64113391
46 SYNE2 NM_182914.2(SYNE2):c.15865G>A (p.Val5289Met) SNV Conflicting interpretations of pathogenicity 313613 rs181059522 GRCh37: 14:64625415-64625415
GRCh38: 14:64158697-64158697
47 SYNE2 NM_182914.2(SYNE2):c.353A>T (p.Asp118Val) SNV Conflicting interpretations of pathogenicity 313484 rs199860789 GRCh37: 14:64408806-64408806
GRCh38: 14:63942088-63942088
48 SYNE2 NM_182914.2(SYNE2):c.19034G>A (p.Arg6345Gln) SNV Conflicting interpretations of pathogenicity 313645 rs141882853 GRCh37: 14:64679701-64679701
GRCh38: 14:64212983-64212983
49 SYNE2 NM_182914.2(SYNE2):c.20423C>T (p.Ser6808Leu) SNV Conflicting interpretations of pathogenicity 313663 rs372922867 GRCh37: 14:64691219-64691219
GRCh38: 14:64224501-64224501
50 SYNE2 NM_182914.3(SYNE2):c.15446G>A (p.Arg5149His) SNV Conflicting interpretations of pathogenicity 860889 GRCh37: 14:64610629-64610629
GRCh38: 14:64143911-64143911

UniProtKB/Swiss-Prot genetic disease variations for Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant:

72
# Symbol AA change Variation ID SNP ID
1 SYNE2 p.Thr6211Met VAR_062977 rs36215895

Expression for Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant

Search GEO for disease gene expression data for Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant.

Pathways for Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant

Pathways related to Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.59 SYNE2 SYNE1 SUN2 SUN1 LMNA EMD
2
Show member pathways
11.49 SYNE2 SYNE1 SUN2 SUN1 LMNA
3
Show member pathways
10.67 LMNA EMD

GO Terms for Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant

Cellular components related to Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 10.01 TMEM43 TMEM214 SYNE2 SYNE1 SUN2 SUN1
2 nuclear membrane GO:0031965 9.63 SYNE2 SYNE1 SUN2 SUN1 LMNA EMD
3 nuclear inner membrane GO:0005637 9.56 TMEM43 SUN2 SUN1 EMD
4 nuclear outer membrane GO:0005640 9.54 SYNE2 SYNE1 EMD
5 integral component of nuclear inner membrane GO:0005639 9.5 TMEM43 SUN2 SUN1
6 nuclear envelope GO:0005635 9.43 SYNE2 SYNE1 SUN2 SUN1 LMNA EMD
7 meiotic nuclear membrane microtubule tethering complex GO:0034993 8.92 SYNE2 SYNE1 SUN2 SUN1

Biological processes related to Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 muscle organ development GO:0007517 9.61 LMNA FHL1 EMD
2 nucleus organization GO:0006997 9.48 SYNE1 LMNA
3 nuclear migration GO:0007097 9.46 SYNE2 SUN2
4 nuclear envelope organization GO:0006998 9.43 SUN2 SUN1 LMNA
5 mitotic nuclear envelope reassembly GO:0007084 9.4 LMNA EMD
6 nuclear membrane organization GO:0071763 9.37 TMEM43 EMD
7 centrosome localization GO:0051642 9.33 SYNE2 SUN2 SUN1
8 nuclear migration along microfilament GO:0031022 9.32 SYNE2 SUN2
9 nuclear matrix anchoring at nuclear membrane GO:0090292 9.13 SYNE1 SUN2 SUN1
10 nucleokinesis involved in cell motility in cerebral cortex radial glia guided migration GO:0021817 8.8 SYNE2 SUN2 SUN1

Molecular functions related to Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein membrane anchor GO:0043495 8.96 SUN2 SUN1
2 lamin binding GO:0005521 8.8 SYNE1 SUN2 SUN1

Sources for Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....