MCID: CRD099
MIFTS: 53

Cardiomyopathy, Dilated, 1e

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1e

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1e:

Name: Cardiomyopathy, Dilated, 1e 53 13 69
Left Ventricular Noncompaction 9 53 71 28 69
Left Ventricular Noncompaction 5 53 49 28 69
Cardiomyopathy, Dilated, 1s 53 49 13 69
Cardiomyopathy, Dilated, 1y 53 13 69
Dilated Cardiomyopathy 1e 12 28 14
Cmd1e 53 12 71
Cdcd2 53 12 71
Cmd1y 53 12 71
Cmd1s 53 12 71
Dilated Cardiomyopathy with Conduction Disorder and Arrhythmia 12 71
Dilated Cardiomyopathy with Conduction Defect 2 12 71
Dilated Cardiomyopathy 1s 12 28
Dilated Cardiomyopathy 1y 12 28
Cardiomyopathy, Dilated, with Conduction Disorder and Arrhythmia 53
Cardiomyopathy, Dilated, with Conduction Defect 2; Cdcd2 53
Cardiomyopathy Dilated with Conduction Defect Type 2 49
Cardiomyopathy, Dilated, with Conduction Defect 2 53
Left Ventricular Non-Compaction 9 71
Cardiomyopathy, Dilated 1e 71
Cardiomyopathy, Dilated 1s 71
Cardiomyopathy, Dilated 1y 71
Dilated Cardiomyopathy-1s 49
Lvnc9 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
patients may require implantable cardioverter defibrillators
may result in sudden death


HPO:

31
cardiomyopathy, dilated, 1e:
Inheritance autosomal dominant inheritance

cardiomyopathy, dilated, 1y:
Inheritance autosomal dominant inheritance

cardiomyopathy, dilated, 1s:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cardiomyopathy, Dilated, 1e

UniProtKB/Swiss-Prot : 71 Cardiomyopathy, dilated 1E: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. Left ventricular non-compaction 9: A disease due to an arrest of myocardial morphogenesis. It is characterized by a hypertrophic left ventricle with deep trabeculations and with poor systolic function, with or without associated left ventricular dilation. In some cases, it is associated with other congenital heart anomalies.

MalaCards based summary : Cardiomyopathy, Dilated, 1e, also known as left ventricular noncompaction 9, is related to campomelic dysplasia and familial progressive cardiac conduction defect, and has symptoms including syncope, atrioventricular block and congestive heart failure. An important gene associated with Cardiomyopathy, Dilated, 1e is SCN5A (Sodium Voltage-Gated Channel Alpha Subunit 5), and among its related pathways/superpathways are G-Beta Gamma Signaling and Cytoskeletal Signaling. Affiliated tissues include heart, and related phenotypes are Decreased cell migration and Increased cell migration

Disease Ontology : 12 A dilated cardiomyopathy that has material basis in mutation in the SCN5A gene on chromosome 3p22.2.

Description from OMIM: 601154 611878 613426

Related Diseases for Cardiomyopathy, Dilated, 1e

Diseases in the Dilated Cardiomyopathy family:

Cardiomyopathy, Dilated, 1a Cardiomyopathy, Dilated, 3b
Cardiomyopathy, Dilated, 1b Cardiomyopathy, Dilated, 1e
Cardiomyopathy, Dilated, 1d Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1h Cardiomyopathy, Dilated, 1i
Cardiomyopathy, Dilated, 1j Cardiomyopathy, Dilated, 1k
Cardiomyopathy, Dilated, 1l Cardiomyopathy, Dilated, 1m
Cardiomyopathy, Dilated, 1o Cardiomyopathy, Dilated, 1p
Cardiomyopathy, Dilated, 1q Cardiomyopathy, Dilated, 1w
Cardiomyopathy, Dilated, 1x Cardiomyopathy, Dilated, 1z
Cardiomyopathy, Dilated, 2a Cardiomyopathy, Dilated, 1bb
Cardiomyopathy, Dilated, 1cc Cardiomyopathy, Dilated, 1dd
Cardiomyopathy, Dilated, 1ee Cardiomyopathy, Dilated, 1ff
Cardiomyopathy, Dilated, 1r Cardiomyopathy, Dilated, 1gg
Cardiomyopathy, Dilated, 1u Cardiomyopathy, Dilated, 1v
Cardiomyopathy, Dilated, 1hh Cardiomyopathy, Dilated, 2b
Cardiomyopathy, Dilated, 1ii Cardiomyopathy, Dilated, 1jj
Cardiomyopathy, Dilated, 1kk Cardiomyopathy, Dilated, 1nn
Dilated Cardiomyopathy 1t Cardiomyopathy Due to Anthracyclines

Diseases related to Cardiomyopathy, Dilated, 1e via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 24)
# Related Disease Score Top Affiliating Genes
1 campomelic dysplasia 11.2
2 familial progressive cardiac conduction defect 10.2 NKX2-5 SCN5A
3 cardiomyopathy, dilated, 1h 10.1 LMNA SNCA
4 cardiac conduction defect 10.1 DSP MYH7 SCN5A
5 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.1 DSP LMNA
6 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.1 DSP LMNA
7 ebstein anomaly 10.1 MYH7 NKX2-5 TPM1
8 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.0 DSP LMNA
9 muscular dystrophy, congenital, lmna-related 10.0 LMNA MEF2A MEF2C
10 atrioventricular block 10.0 LMNA NKX2-5 SCN5A
11 hypertrophic cardiomyopathy 10.0 DES LMNA MYH7 TPM1
12 proximal spinal muscular atrophy 10.0 DES LMNA
13 familial isolated dilated cardiomyopathy 9.9 DES MYH7 RBM20 SCN5A TPM1
14 conotruncal heart malformations 9.8 MEF2A MEF2C NKX2-5
15 intrinsic cardiomyopathy 9.8 DSP LMNA MYH7 SCN5A TPM1
16 atrial standstill 1 9.7 DES DSP LMNA MYH7 SCN5A
17 left ventricular noncompaction 9.7 LMNA MYH7 RBM20 SCN5A TPM1 XIRP1
18 alopecia 9.7 DSP GJA1 LMNA
19 pulmonary sclerosing hemangioma 9.6 CTNNB1 CTNND1
20 hypoplastic left heart syndrome 9.6 CDH2 GJA1 NKX2-5
21 heart disease 8.8 DSP GJA1 LMNA MEF2A MYH7 NKX2-5
22 arrhythmogenic right ventricular dysplasia, familial, 5 8.6 CDH2 CTNNB1 MEF2A MEF2C NKX2-5 SCN5A
23 arrhythmogenic right ventricular cardiomyopathy 8.6 CDH2 CTNNB1 DES DSP GJA1 LMNA
24 dilated cardiomyopathy 8.0 CDH2 DES DSP GJA1 LMNA MEF2A

Graphical network of the top 20 diseases related to Cardiomyopathy, Dilated, 1e:



Diseases related to Cardiomyopathy, Dilated, 1e

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1e

Symptoms via clinical synopsis from OMIM:

53
CardiovascularHeart:
syncope
atrioventricular block
atrial fibrillation
right bundle branch block
palpitations
more

Clinical features from OMIM:

601154 611878 613426

Human phenotypes related to Cardiomyopathy, Dilated, 1e:

31 (show all 22)
# Description HPO Frequency HPO Source Accession
1 syncope 31 HP:0001279
2 atrioventricular block 31 HP:0001678
3 congestive heart failure 31 HP:0001635
4 bicuspid aortic valve 31 occasional (7.5%) HP:0001647
5 coarctation of aorta 31 occasional (7.5%) HP:0001680
6 stroke 31 HP:0001297
7 dilated cardiomyopathy 31 HP:0001644
8 atrial fibrillation 31 HP:0005110
9 right bundle branch block 31 HP:0011712
10 tricuspid regurgitation 31 occasional (7.5%) HP:0005180
11 ventricular tachycardia 31 HP:0004756
12 pulmonary artery hypoplasia 31 occasional (7.5%) HP:0004971
13 ventricular extrasystoles 31 HP:0006682
14 palpitations 31 HP:0001962
15 ventricular arrhythmia 31 occasional (7.5%) HP:0004308
16 atrial flutter 31 HP:0004749
17 atrial standstill 31 HP:0025478
18 left ventricular noncompaction 31 occasional (7.5%) HP:0030682
19 left bundle branch block 31 HP:0011713
20 premature atrial contractions 31 HP:0006699
21 supraventricular tachycardia 31 HP:0004755
22 reduced systolic function 31 HP:0006673

UMLS symptoms related to Cardiomyopathy, Dilated, 1e:


syncope

GenomeRNAi Phenotypes related to Cardiomyopathy, Dilated, 1e according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased cell migration GR00055-A-1 9.35 CDH2 CTNNB1 CTNND1 GJA1 TPM1
2 Increased cell migration GR00055-A-3 9.02 CDH2 CTNNB1 CTNND1 GJA1 TPM1

MGI Mouse Phenotypes related to Cardiomyopathy, Dilated, 1e:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.32 MEF2C MYH7 NKX2-5 RBM20 SCN5A SNCA
2 cellular MP:0005384 10.2 SNCA CDH2 CTNNB1 CTNND1 DES DSP
3 growth/size/body region MP:0005378 10.11 CDH2 CTNNB1 DSP GJA1 LMNA MEF2A
4 mortality/aging MP:0010768 10.03 CDH2 CTNNB1 CTNND1 DES DSP GJA1
5 muscle MP:0005369 9.97 CDH2 CTNNB1 DES DSP GJA1 LMNA
6 embryo MP:0005380 9.95 CDH2 CTNNB1 DSP GJA1 MEF2C NKX2-5
7 craniofacial MP:0005382 9.91 CTNNB1 DSP GJA1 LMNA MEF2C NKX2-5
8 integument MP:0010771 9.87 CTNNB1 CTNND1 DSP GJA1 LMNA NKX2-5
9 nervous system MP:0003631 9.7 CDH2 CTNNB1 CTNND1 DSP GJA1 LMNA
10 normal MP:0002873 9.23 MEF2C NKX2-5 SCN5A SNCA CTNNB1 GJA1

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1e

Search Clinical Trials , NIH Clinical Center for Cardiomyopathy, Dilated, 1e

Genetic Tests for Cardiomyopathy, Dilated, 1e

Genetic tests related to Cardiomyopathy, Dilated, 1e:

# Genetic test Affiliating Genes
1 Dilated Cardiomyopathy 1s 28 MYH7
2 Dilated Cardiomyopathy 1e 28 SCN5A
3 Dilated Cardiomyopathy 1y 28 TPM1
4 Left Ventricular Noncompaction 5 28
5 Left Ventricular Noncompaction 9 28

Anatomical Context for Cardiomyopathy, Dilated, 1e

MalaCards organs/tissues related to Cardiomyopathy, Dilated, 1e:

38
Heart

Publications for Cardiomyopathy, Dilated, 1e

Articles related to Cardiomyopathy, Dilated, 1e:

# Title Authors Year
1
E-box- and MEF-2-independent muscle-specific expression, positive autoregulation, and cross-activation of the chicken MyoD (CMD1) promoter reveal an indirect regulatory pathway. ( 8035824 )
1994

Variations for Cardiomyopathy, Dilated, 1e

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Dilated, 1e:

71 (show all 28)
# Symbol AA change Variation ID SNP ID
1 MYH7 p.Ala223Thr VAR_017746 rs121913645
2 MYH7 p.Ser532Pro VAR_017747 rs121913642
3 MYH7 p.Ser642Leu VAR_017748 rs121913646
4 MYH7 p.Phe764Leu VAR_017751 rs121913643
5 MYH7 p.Ile201Thr VAR_042768 rs397516258
6 MYH7 p.Thr412Asn VAR_042781
7 MYH7 p.Ala550Val VAR_042794
8 MYH7 p.Thr1019Asn VAR_042819 rs755392435
9 MYH7 p.Arg1193Ser VAR_042822 rs886039090
10 MYH7 p.Glu1426Lys VAR_042826 rs397516208
11 MYH7 p.Lys1459Asn VAR_042828 rs201307101
12 MYH7 p.Arg1634Cys VAR_042833 rs397516232
13 MYH7 p.Val1044Ala VAR_067260
14 MYH7 p.Ala1263Glu VAR_067262 rs758889483
15 MYH7 p.Leu1297Val VAR_067263
16 MYH7 p.Arg243His VAR_073876 rs267606910
17 MYH7 p.Tyr283Asp VAR_073877 rs397515482
18 MYH7 p.Tyr350Asn VAR_073878
19 MYH7 p.Leu390Pro VAR_073879
20 MYH7 p.Arg1359Cys VAR_073883 rs45451303
21 MYH7 p.Glu1573Lys VAR_073884 rs750987717
22 MYH7 p.Ser1776Thr VAR_073885
23 MYH7 p.Asn1918Lys VAR_073888
24 SCN5A p.Asp1275Asn VAR_026373 rs137854618
25 TPM1 p.Glu40Lys VAR_043986 rs104894501
26 TPM1 p.Glu54Lys VAR_043987 rs104894505
27 TPM1 p.Glu192Lys VAR_070121 rs199476315
28 TPM1 p.Lys248Glu VAR_070122 rs199476319

ClinVar genetic disease variations for Cardiomyopathy, Dilated, 1e:

6 (show all 44)
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN5A NM_198056.2(SCN5A): c.3823G> A (p.Asp1275Asn) single nucleotide variant Pathogenic rs137854618 GRCh37 Chromosome 3, 38607917: 38607917
2 SCN5A NM_000335.4(SCN5A): c.4780G> C (p.Asp1594His) single nucleotide variant Pathogenic rs137854607 GRCh37 Chromosome 3, 38595800: 38595800
3 TPM1 NM_001018005.1(TPM1): c.160G> A (p.Glu54Lys) single nucleotide variant Pathogenic rs104894505 GRCh37 Chromosome 15, 63336271: 63336271
4 TPM1 NM_001018005.1(TPM1): c.118G> A (p.Glu40Lys) single nucleotide variant Pathogenic rs104894501 GRCh37 Chromosome 15, 63336229: 63336229
5 MYH7 NM_000257.3(MYH7): c.1207C> T (p.Arg403Trp) single nucleotide variant Pathogenic rs3218714 GRCh37 Chromosome 14, 23898488: 23898488
6 MYH7 NM_000257.3(MYH7): c.1594T> C (p.Ser532Pro) single nucleotide variant Pathogenic rs121913642 GRCh37 Chromosome 14, 23897088: 23897088
7 MYH7 NM_000257.3(MYH7): c.2292C> G (p.Phe764Leu) single nucleotide variant Pathogenic rs121913643 GRCh37 Chromosome 14, 23894622: 23894622
8 MYH7 NM_000257.3(MYH7): c.667G> A (p.Ala223Thr) single nucleotide variant Pathogenic rs121913645 GRCh37 Chromosome 14, 23900859: 23900859
9 MYH7 NM_000257.3(MYH7): c.1925C> T (p.Ser642Leu) single nucleotide variant Pathogenic rs121913646 GRCh37 Chromosome 14, 23896480: 23896480
10 MYH7 NM_000257.3(MYH7): c.5378T> C (p.Leu1793Pro) single nucleotide variant Pathogenic/Likely pathogenic rs121913654 GRCh37 Chromosome 14, 23884385: 23884385
11 MYH7 MYH7, IVS8DS, G-A, +1 single nucleotide variant Pathogenic
12 MYH7 NM_000257.3(MYH7): c.5296G> A (p.Ala1766Thr) single nucleotide variant Pathogenic rs267606909 GRCh37 Chromosome 14, 23884467: 23884467
13 TPM1 NM_001018005.1(TPM1): c.688G> A (p.Asp230Asn) single nucleotide variant Pathogenic rs199476317 GRCh37 Chromosome 15, 63354462: 63354462
14 TPM1 NM_001018005.1(TPM1): c.742A> G (p.Lys248Glu) single nucleotide variant Pathogenic rs199476319 GRCh37 Chromosome 15, 63354814: 63354814
15 SCN5A NM_198056.2(SCN5A): c.665G> A (p.Arg222Gln) single nucleotide variant Pathogenic rs45546039 GRCh37 Chromosome 3, 38655272: 38655272
16 MYH7 NM_000257.3(MYH7): c.1106G> A (p.Arg369Gln) single nucleotide variant Likely pathogenic rs397516089 GRCh37 Chromosome 14, 23899016: 23899016
17 MYH7 NM_000257.3(MYH7): c.1987C> T (p.Arg663Cys) single nucleotide variant Pathogenic/Likely pathogenic rs397516127 GRCh37 Chromosome 14, 23896043: 23896043
18 MYH7 NM_000257.3(MYH7): c.1988G> A (p.Arg663His) single nucleotide variant Pathogenic rs371898076 GRCh37 Chromosome 14, 23896042: 23896042
19 MYH7 NM_000257.3(MYH7): c.2389G> A (p.Ala797Thr) single nucleotide variant Pathogenic/Likely pathogenic rs3218716 GRCh37 Chromosome 14, 23894525: 23894525
20 MYH7 NM_000257.3(MYH7): c.5740G> A (p.Glu1914Lys) single nucleotide variant Likely pathogenic rs397516254 GRCh37 Chromosome 14, 23883018: 23883018
21 MYH7 NM_000257.3(MYH7): c.847T> G (p.Tyr283Asp) single nucleotide variant Pathogenic rs397515482 GRCh37 Chromosome 14, 23900158: 23900158
22 MYH7 NM_000257.2(MYH7): c.5754C> R (p.Asn1918Lys) single nucleotide variant Pathogenic rs138110910 GRCh38 Chromosome 14, 23413795: 23413795
23 LMNA NM_170707.3(LMNA): c.568C> T (p.Arg190Trp) single nucleotide variant Pathogenic rs59026483 GRCh37 Chromosome 1, 156104248: 156104248
24 LMNA NM_170707.3(LMNA): c.908_909delCT (p.Ser303Cysfs) deletion Pathogenic rs59684335 GRCh37 Chromosome 1, 156105075: 156105076
25 MYH7 NM_000257.3(MYH7): c.5378_5380delTGC (p.Leu1793del) deletion Pathogenic rs587779396 GRCh37 Chromosome 14, 23884383: 23884385
26 MYH7 NM_000257.3(MYH7): c.2788G> C (p.Glu930Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397516171 GRCh37 Chromosome 14, 23893250: 23893250
27 MYH7 NM_000257.3(MYH7): c.2710C> T (p.Arg904Cys) single nucleotide variant Pathogenic rs727503253 GRCh37 Chromosome 14, 23893328: 23893328
28 SCN5A NM_198056.2(SCN5A): c.2550_2551dupGT (p.Phe851Cysfs) duplication Pathogenic rs397514450 GRCh37 Chromosome 3, 38627418: 38627419
29 TTN NM_001256850.1(TTN): c.82432delG (p.Ala27478Leufs) deletion Pathogenic/Likely pathogenic rs794729356 GRCh37 Chromosome 2, 179422726: 179422726
30 TTN NM_001256850.1(TTN): c.46513+1G> A single nucleotide variant Likely pathogenic rs761807131 GRCh37 Chromosome 2, 179474816: 179474816
31 RBM20 NM_001134363.2(RBM20): c.1913C> T (p.Pro638Leu) single nucleotide variant Pathogenic rs267607003 GRCh37 Chromosome 10, 112572068: 112572068
32 MYH7 NM_000257.3(MYH7): c.1544T> C (p.Met515Thr) single nucleotide variant Likely pathogenic rs863224900 GRCh37 Chromosome 14, 23897743: 23897743
33 TPM1 NM_001018004.1(TPM1): c.519G> C (p.Glu173Asp) single nucleotide variant Likely pathogenic rs886037905 GRCh38 Chromosome 15, 63060895: 63060895
34 TTN NM_001267550.2(TTN): c.65035_65036delGC (p.Ala21679Leufs) deletion Likely pathogenic rs1114167323 GRCh38 Chromosome 2, 178584515: 178584516
35 TTN NM_001267550.2(TTN): c.61682C> G (p.Ser20561Ter) single nucleotide variant Likely pathogenic rs1114167324 GRCh38 Chromosome 2, 178590043: 178590043
36 TTN NM_001267550.2(TTN): c.54768delT (p.Ser18258Valfs) deletion Likely pathogenic rs1114167335 GRCh37 Chromosome 2, 179468646: 179468646
37 TTN NM_001267550.2(TTN): c.42909_42910delTG (p.Cys14303Trpfs) deletion Likely pathogenic rs1114167333 GRCh37 Chromosome 2, 179498176: 179498177
38 TTN NM_001267550.2(TTN): c.12438_12448delATCTCCCAACC (p.Ser4147Thrfs) deletion Likely pathogenic rs1114167330 GRCh37 Chromosome 2, 179605512: 179605522
39 DES NM_001927.3(DES): c.407T> C (p.Leu136Pro) single nucleotide variant Likely pathogenic rs397516695 GRCh37 Chromosome 2, 220283591: 220283591
40 DES NM_001927.3(DES): c.493_520del28insGCGT (p.Gln165_Ala174delinsAlaSer) indel Pathogenic rs1114167332 GRCh37 Chromosome 2, 220283677: 220283704
41 DES NM_001927.3(DES): c.1332_1335delGACG (p.Thr445Terfs) deletion Pathogenic rs1114167327 GRCh38 Chromosome 2, 219425706: 219425709
42 RBM20 NM_001134363.2(RBM20): c.1904C> G (p.Ser635Cys) single nucleotide variant Likely pathogenic rs1114167331 GRCh37 Chromosome 10, 112572059: 112572059
43 PKP2 NM_004572.3(PKP2): c.2035C> T (p.His679Tyr) single nucleotide variant Likely pathogenic rs757922359 GRCh38 Chromosome 12, 32821466: 32821466
44 MYH7 NM_000257.3(MYH7): c.5390T> C (p.Leu1797Pro) single nucleotide variant Likely pathogenic rs1114167322 GRCh38 Chromosome 14, 23415164: 23415164

Expression for Cardiomyopathy, Dilated, 1e

Search GEO for disease gene expression data for Cardiomyopathy, Dilated, 1e.

Pathways for Cardiomyopathy, Dilated, 1e

Pathways related to Cardiomyopathy, Dilated, 1e according to GeneCards Suite gene sharing:

(show all 25)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.88 CTNNB1 GJA1 MEF2A MEF2C SCN5A
2 12.38 CTNND1 DES GJA1 LMNA TPM1
3
Show member pathways
12.34 CTNNB1 MEF2C MYH7 NKX2-5
4
Show member pathways
12.14 CDH2 CTNNB1 DES DSP GJA1 LMNA
5
Show member pathways
12.11 DES LMNA MYH7 TPM1
6 12.07 CTNNB1 GJA1 MEF2C SCN5A
7 11.98 CDH2 CTNNB1 MEF2A MEF2C
8
Show member pathways
11.95 CDH2 CTNNB1 GJA1
9 11.94 CTNNB1 MEF2A MEF2C
10 11.93 CTNNB1 LMNA MEF2A MEF2C
11 11.9 GJA1 MEF2C NKX2-5
12 11.87 CDH2 CTNNB1 MEF2A MEF2C
13
Show member pathways
11.84 CTNNB1 DSP LMNA
14 11.8 CDH2 CTNNB1 CTNND1 DSP GJA1
15 11.48 MEF2C NKX2-5 SCN5A
16
Show member pathways
11.47 CDH2 CTNNB1 MEF2A MEF2C
17 11.42 DSP GJA1 LMNA SCN5A
18 11.41 CTNNB1 MEF2C NKX2-5
19 11.34 CDH2 DES GJA1 MEF2C NKX2-5
20 11.33 CDH2 CTNNB1 CTNND1
21 11.31 CDH2 CTNNB1 CTNND1
22 10.98 MEF2C MYH7 NKX2-5
23 10.98 CDH2 CTNNB1 CTNND1 GJA1
24 10.72 MEF2A MEF2C NKX2-5
25 10.53 CDH2 CTNNB1 CTNND1 DSP GJA1

GO Terms for Cardiomyopathy, Dilated, 1e

Cellular components related to Cardiomyopathy, Dilated, 1e according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.88 CDH2 CTNNB1 DSP GJA1 SNCA XIRP1
2 sarcolemma GO:0042383 9.65 CDH2 DES SCN5A
3 cell-cell junction GO:0005911 9.63 CDH2 CTNNB1 CTNND1 DES DSP GJA1
4 intermediate filament GO:0005882 9.62 DES DSP GJA1 LMNA
5 lateral plasma membrane GO:0016328 9.61 CTNNB1 GJA1 SCN5A
6 Z disc GO:0030018 9.56 CTNNB1 DES MYH7 SCN5A
7 stress fiber GO:0001725 9.54 MYH7 TPM1 XIRP1
8 contractile fiber GO:0043292 9.49 DES GJA1
9 catenin complex GO:0016342 9.46 CDH2 CTNNB1
10 intercalated disc GO:0014704 9.43 CDH2 CTNNB1 DES DSP GJA1 SCN5A
11 fascia adherens GO:0005916 9.02 CDH2 CTNNB1 DES DSP GJA1

Biological processes related to Cardiomyopathy, Dilated, 1e according to GeneCards Suite gene sharing:

(show all 34)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.89 CTNNB1 GJA1 LMNA MEF2C NKX2-5
2 cell-cell adhesion GO:0098609 9.83 CTNNB1 CTNND1 DSP
3 neuron migration GO:0001764 9.81 CTNNB1 GJA1 MEF2C
4 heart looping GO:0001947 9.74 GJA1 MEF2C NKX2-5
5 positive regulation of osteoblast differentiation GO:0045669 9.73 CTNNB1 GJA1 MEF2C
6 cellular response to calcium ion GO:0071277 9.72 MEF2A MEF2C SCN5A
7 muscle contraction GO:0006936 9.71 DES GJA1 MYH7 TPM1
8 cardiac conduction GO:0061337 9.69 GJA1 MEF2A SCN5A
9 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.66 GJA1 SCN5A
10 regulation of neurotransmitter secretion GO:0046928 9.65 MEF2C SNCA
11 intermediate filament organization GO:0045109 9.65 DES DSP
12 muscle filament sliding GO:0030049 9.65 DES MYH7 TPM1
13 positive regulation of sodium ion transport GO:0010765 9.64 NKX2-5 SCN5A
14 cardiac muscle hypertrophy in response to stress GO:0014898 9.64 MEF2C MYH7
15 smooth muscle cell differentiation GO:0051145 9.63 CTNNB1 MEF2C
16 regulation of heart contraction GO:0008016 9.63 DES GJA1 TPM1
17 synaptic vesicle transport GO:0048489 9.62 CTNNB1 SNCA
18 entry of bacterium into host cell GO:0035635 9.62 CTNNB1 CTNND1
19 ventricular cardiac muscle cell development GO:0055015 9.61 LMNA NKX2-5
20 regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 9.61 GJA1 SCN5A
21 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.6 GJA1 SCN5A
22 atrial cardiac muscle cell action potential GO:0086014 9.59 GJA1 SCN5A
23 positive regulation of skeletal muscle tissue development GO:0048643 9.58 CTNNB1 MEF2C
24 cellular response to parathyroid hormone stimulus GO:0071374 9.58 GJA1 MEF2C
25 cardiac muscle contraction GO:0060048 9.56 MYH7 NKX2-5 SCN5A TPM1
26 positive regulation of behavioral fear response GO:2000987 9.54 GJA1 MEF2C
27 embryonic heart tube development GO:0035050 9.54 CTNNB1 GJA1 NKX2-5
28 cardiac ventricle formation GO:0003211 9.52 MEF2C NKX2-5
29 adult heart development GO:0007512 9.5 GJA1 MYH7 NKX2-5
30 adherens junction organization GO:0034332 9.46 CDH2 CTNNB1 CTNND1 DSP
31 ventricular cardiac myofibril assembly GO:0055005 9.43 MEF2A NKX2-5
32 positive regulation of muscle cell differentiation GO:0051149 9.26 CDH2 CTNNB1 MEF2A MEF2C
33 heart development GO:0007507 9.17 CTNNB1 GJA1 MEF2A MEF2C NKX2-5 RBM20
34 negative regulation of transcription by RNA polymerase II GO:0000122 10.06 CTNNB1 MEF2A MEF2C NKX2-5 SNCA

Molecular functions related to Cardiomyopathy, Dilated, 1e according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.78 CTNNB1 MEF2A MEF2C NKX2-5
2 protein heterodimerization activity GO:0046982 9.77 CTNNB1 MEF2A MEF2C NKX2-5 TPM1
3 enzyme binding GO:0019899 9.76 CDH2 CTNNB1 SCN5A SNCA
4 transcription regulatory region DNA binding GO:0044212 9.62 CTNNB1 MEF2C NKX2-5 SNCA
5 structural constituent of cytoskeleton GO:0005200 9.61 DES DSP TPM1
6 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 9.43 MEF2A MEF2C NKX2-5
7 alpha-catenin binding GO:0045294 9.4 CDH2 CTNNB1
8 scaffold protein binding GO:0097110 9.13 DSP GJA1 SCN5A
9 protein kinase binding GO:0019901 9.02 CDH2 CTNNB1 CTNND1 MEF2A SCN5A
10 protein binding GO:0005515 10.03 CDH2 CTNNB1 CTNND1 DES DSP GJA1

Sources for Cardiomyopathy, Dilated, 1e

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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