CMD1E
MCID: CRD099
MIFTS: 52

Cardiomyopathy, Dilated, 1e (CMD1E) malady

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1e

Aliases & Descriptions for Cardiomyopathy, Dilated, 1e:

Name: Cardiomyopathy, Dilated, 1e 54 13 69
Left Ventricular Noncompaction 5 54 50 24 29 69
Left Ventricular Noncompaction 9 54 24 66 29 69
Cardiomyopathy, Dilated, 1s 54 50 13 69
Cardiomyopathy, Dilated, 1y 54 13 69
Dilated Cardiomyopathy with Conduction Disorder and Arrhythmia 12 66
Dilated Cardiomyopathy with Conduction Defect 2 12 66
Cardiomyopathy, Dilated 1y 66 29
Dilated Cardiomyopathy 1e 12 14
Cdcd2 12 66
Cmd1e 12 66
Cmd1s 12 66
Cmd1y 12 66
Lvnc9 24 66
Cardiomyopathy Dilated with Conduction Defect Type 2 50
Left Ventricular Non-Compaction 9 66
Cardiomyopathy, Dilated 1e 66
Cardiomyopathy, Dilated 1s 66
Dilated Cardiomyopathy 1s 12
Dilated Cardiomyopathy 1y 12
Dilated Cardiomyopathy-1s 50
Lvnc5 24

Characteristics:

HPO:

32
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 : 66 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 5, is related to myh7-related dilated cardiomyopathy and tpm1-related dilated cardiomyopathy, and has symptoms including syncope, atrioventricular block and congestive heart failure. An important gene associated with Cardiomyopathy, Dilated, 1e is TPM1 (Tropomyosin 1 (Alpha)), and among its related pathways/superpathways are Developmental Biology and Vascular smooth muscle contraction. Affiliated tissues include heart, and related phenotypes are Decreased cell migration and Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance

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

Description from OMIM: 601154 613426 611878

Related Diseases for Cardiomyopathy, Dilated, 1e

Diseases in the Cardiomyopathy family:

Cardiomyopathy, Dilated, 1cc Cardiomyopathy, Dilated, 1a
Cardiomyopathy, Dilated, 1v Cardiomyopathy, Dilated, 1d
Cardiomyopathy, Dilated, 1h Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1i Cardiomyopathy, Dilated, 1nn
Cardiomyopathy, Dilated, 1z Cardiomyopathy, Dilated, 1e
Cardiomyopathy, Dilated, 1gg Cardiomyopathy, Dilated, 1l
Cardiomyopathy, Dilated, 1k Cardiomyopathy, Dilated, 1jj
Cardiomyopathy, Dilated, 1p Cardiomyopathy, Dilated, 1j
Cardiomyopathy, Dilated, 2b Cardiomyopathy, Dilated, 1q
Cardiomyopathy, Dilated, 1x Cardiomyopathy, Dilated, 1kk
Cardiomyopathy, Dilated, 1w Cardiomyopathy, Dilated, 1dd
Cardiomyopathy, Dilated, 1hh Cardiomyopathy, Dilated, 1m
Cardiomyopathy, Dilated, 1ii Cardiomyopathy, Dilated, 1o
Cardiomyopathy, Dilated, 1t Cardiomyopathy, Dilated, 1ee
Cardiomyopathy, Dilated, 1u Cardiomyopathy, Dilated, 1r
Cardiomyopathy, Dilated, 1bb Cardiomyopathy, Dilated, 2a
Cardiomyopathy, Dilated, 1ff Cardiomyopathy, Dilated, 3b
Dilated Cardiomyopathy Dmd-Related Dilated Cardiomyopathy
Dilated Cardiomyopathy 1c Dilated Cardiomyopathy 1aa
Dilated Cardiomyopathy 1b Lmna-Related Dilated Cardiomyopathy
Cardiomyopathy Due to Anthracyclines Mypn-Related Cardiomyopathy
Abcc9-Related Dilated Cardiomyopathy Actc1-Related Dilated Cardiomyopathy
Actn2-Related Dilated Cardiomyopathy Ankrd1-Related Dilated Cardiomyopathy
Bag3-Related Dilated Cardiomyopathy Cryab-Related Dilated Cardiomyopathy
Csrp3-Related Dilated Cardiomyopathy Des-Related Dilated Cardiomyopathy
Dsg2-Related Dilated Cardiomyopathy Eya4-Related Dilated Cardiomyopathy
Fktn-Related Dilated Cardiomyopathy Gatad1-Related Dilated Cardiomyopathy
Lama4-Related Dilated Cardiomyopathy Ldb3-Related Dilated Cardiomyopathy
Mybpc3-Related Dilated Cardiomyopathy Myh6-Related Dilated Cardiomyopathy
Myh7-Related Dilated Cardiomyopathy Nexn-Related Dilated Cardiomyopathy
Pln-Related Dilated Cardiomyopathy Prdm16-Related Dilated Cardiomyopathy
Psen1-Related Dilated Cardiomyopathy Psen2-Related Dilated Cardiomyopathy
Rbm20-Related Dilated Cardiomyopathy Scn5a-Related Dilated Cardiomyopathy
Sdha-Related Dilated Cardiomyopathy Sgcd-Related Dilated Cardiomyopathy
Taz-Related Dilated Cardiomyopathy Tcap-Related Dilated Cardiomyopathy
Tmpo-Related Dilated Cardiomyopathy Tnnc1-Related Dilated Cardiomyopathy
Tnni3-Related Dilated Cardiomyopathy Tnnt2-Related Dilated Cardiomyopathy
Tpm1-Related Dilated Cardiomyopathy Ttn-Related Dilated Cardiomyopathy
Vcl-Related Dilated Cardiomyopathy

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

(show all 32)
id Related Disease Score Top Affiliating Genes
1 myh7-related dilated cardiomyopathy 11.1
2 tpm1-related dilated cardiomyopathy 11.1
3 scn5a-associated dilated cardiomyopathy 11.1
4 scn5a-related dilated cardiomyopathy 11.1
5 campomelic dysplasia 10.9
6 cardiomyopathy, dilated, 1a 10.9
7 left ventricular noncompaction 1, with or without congenital heart defects 10.9
8 trs2-related diamond-blackfan anemia with mandibulofacial dysostosis 10.2 MYH7 SCN5A TPM1
9 ndp-related retinopathy of prematurity 10.2 MYH7 SCN5A TPM1
10 selenon-related myopathy 10.2 MYH7 SCN5A TPM1
11 sema4a-related retinitis pigmentosa 10.2 MYH7 SCN5A TPM1
12 pfeiffer rockelein syndrome 10.2 MYH7 SCN5A
13 tardbp-related frontotemporal dementia 10.2 MYH7 SCN5A TPM1
14 fatal infantile encephalomyopathy 10.1 NKX2-5 SCN5A
15 primary cutaneous gamma/delta-positive t-cell lymphoma 10.1 MYH7 SCN5A TPM1
16 combined oxidative phosphorylation deficiency 17 10.1 NKX2-5 SCN5A
17 mosaic trisomy 1 10.1 DSP MYH7 SCN5A
18 isolated encephalocele 10.1 DSP SCN5A
19 retinitis pigmentosa 18 10.1 DSP MYH7 SCN5A
20 pollen allergy 10.1 MYH7 SCN5A TPM1
21 pervasive developmental disorder 10.1 DSP MYH7 TPM1
22 hypogonadotropic hypogonadism 12 with or without anosmia 10.0 MEF2A MEF2C NKX2-5
23 macroglossia 9.9 MYH7 NKX2-5
24 lethal congenital contracture syndrome 8 9.9 CTNNB1 SNCA
25 cavernous hemangioma of face 9.9 CTNNB1 CTNND1
26 ichthyosis lamellar 3 9.9 CDH2 GJA1 NKX2-5
27 xanthogranulomatous pyelonephritis 9.7 GJA1 MEF2A MYH7 NKX2-5 SCN5A
28 cdkl5-related angelman-like syndrome 9.6 CDH2 DSP GJA1 MYH7 SCN5A TPM1
29 familial partial lipodystrophy 9.5 CDH2 CTNNB1 DSP GJA1 SCN5A
30 emery-dreifuss muscular dystrophy, dominant type 9.4 DSP GJA1 MEF2A MYH7 NKX2-5 SCN5A
31 emery-dreifuss muscular dystrophy 7, ad 9.3 CDH2 CTNNB1 MEF2A MEF2C NKX2-5 SCN5A
32 sudden infant death syndrome 8.4 CDH2 CTNNB1 CTNND1 DSP GJA1 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 by clinical synopsis from OMIM:

601154 613426

Clinical features from OMIM:

601154 613426 611878

Human phenotypes related to Cardiomyopathy, Dilated, 1e:

32 (show all 19)
id Description HPO Frequency HPO Source Accession
1 syncope 32 HP:0001279
2 atrioventricular block 32 HP:0001678
3 congestive heart failure 32 HP:0001635
4 bicuspid aortic valve 32 HP:0001647
5 coarctation of aorta 32 HP:0001680
6 stroke 32 HP:0001297
7 dilated cardiomyopathy 32 HP:0001644
8 atrial fibrillation 32 HP:0005110
9 right bundle branch block 32 HP:0011712
10 tricuspid regurgitation 32 HP:0005180
11 ventricular tachycardia 32 HP:0004756
12 pulmonary artery hypoplasia 32 HP:0004971
13 ventricular extrasystoles 32 HP:0006682
14 palpitations 32 HP:0001962
15 ventricular arrhythmia 32 HP:0004308
16 atrial flutter 32 HP:0004749
17 left ventricular noncompaction 32 HP:0030682
18 left bundle branch block 32 HP:0011713
19 reduced systolic function 32 HP:0006673

UMLS symptoms related to Cardiomyopathy, Dilated, 1e:


syncope

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased cell migration GR00055-A-1 9.55 TPM1 CDH2 CTNNB1 CTNND1 GJA1
2 Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance GR00210-A 9.26 CDH2 CTNNB1 CTNND1 GJA1
3 Increased cell migration GR00055-A-3 9.02 CDH2 CTNNB1 CTNND1 GJA1 TPM1

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.17 CDH2 CTNNB1 DSP GJA1 MEF2A MEF2C
2 cellular MP:0005384 10.06 CDH2 CTNNB1 CTNND1 DSP GJA1 MEF2A
3 growth/size/body region MP:0005378 10.02 SCN5A SNCA XIRP1 CDH2 CTNNB1 DSP
4 mortality/aging MP:0010768 9.96 GJA1 MEF2A MEF2C NKX2-5 SCN5A SNCA
5 embryo MP:0005380 9.91 CDH2 CTNNB1 DSP GJA1 MEF2C NKX2-5
6 muscle MP:0005369 9.85 XIRP1 CDH2 CTNNB1 DSP GJA1 MEF2A
7 nervous system MP:0003631 9.65 CDH2 CTNNB1 CTNND1 DSP GJA1 MEF2A
8 normal MP:0002873 9.17 CTNNB1 GJA1 MEF2A MEF2C NKX2-5 SCN5A

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:

id Genetic test Affiliating Genes
1 Dilated Cardiomyopathy 1s 29
2 Dilated Cardiomyopathy 1e 29
3 Dilated Cardiomyopathy 1y 29
4 Left Ventricular Noncompaction 5 29 24 MYH7
5 Left Ventricular Noncompaction 9 29 24 TPM1

Anatomical Context for Cardiomyopathy, Dilated, 1e

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

39
Heart

Publications for Cardiomyopathy, Dilated, 1e

Variations for Cardiomyopathy, Dilated, 1e

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

66 (show all 28)
id 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
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 23)
id 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.1594T> C (p.Ser532Pro) single nucleotide variant Pathogenic rs121913642 GRCh37 Chromosome 14, 23897088: 23897088
6 MYH7 NM_000257.3(MYH7): c.2292C> G (p.Phe764Leu) single nucleotide variant Pathogenic rs121913643 GRCh37 Chromosome 14, 23894622: 23894622
7 MYH7 NM_000257.3(MYH7): c.667G> A (p.Ala223Thr) single nucleotide variant Pathogenic rs121913645 GRCh37 Chromosome 14, 23900859: 23900859
8 MYH7 NM_000257.3(MYH7): c.1925C> T (p.Ser642Leu) single nucleotide variant Pathogenic rs121913646 GRCh37 Chromosome 14, 23896480: 23896480
9 MYH7 NM_000257.3(MYH7): c.5378T> C (p.Leu1793Pro) single nucleotide variant Pathogenic/Likely pathogenic rs121913654 GRCh37 Chromosome 14, 23884385: 23884385
10 MYH7 MYH7, IVS8DS, G-A, +1 single nucleotide variant Pathogenic
11 MYH7 NM_000257.3(MYH7): c.5296G> A (p.Ala1766Thr) single nucleotide variant Pathogenic rs267606909 GRCh37 Chromosome 14, 23884467: 23884467
12 TPM1 NM_001018005.1(TPM1): c.688G> A (p.Asp230Asn) single nucleotide variant Pathogenic rs199476317 GRCh37 Chromosome 15, 63354462: 63354462
13 TPM1 NM_001018005.1(TPM1): c.742A> G (p.Lys248Glu) single nucleotide variant Pathogenic rs199476319 GRCh37 Chromosome 15, 63354814: 63354814
14 SCN5A NM_198056.2(SCN5A): c.665G> A (p.Arg222Gln) single nucleotide variant Pathogenic rs45546039 GRCh37 Chromosome 3, 38655272: 38655272
15 MYH7 NM_000257.3(MYH7): c.1988G> A (p.Arg663His) single nucleotide variant Pathogenic rs371898076 GRCh37 Chromosome 14, 23896042: 23896042
16 MYH7 NM_000257.3(MYH7): c.5740G> A (p.Glu1914Lys) single nucleotide variant Likely pathogenic rs397516254 GRCh37 Chromosome 14, 23883018: 23883018
17 MYH7 NM_000257.3(MYH7): c.847T> G (p.Tyr283Asp) single nucleotide variant Pathogenic rs397515482 GRCh37 Chromosome 14, 23900158: 23900158
18 MYH7 NM_000257.2(MYH7): c.5754C> R (p.Asn1918Lys) single nucleotide variant Pathogenic rs138110910 GRCh38 Chromosome 14, 23413795: 23413795
19 MYH7 NM_000257.3(MYH7): c.5378_5380delTGC (p.Leu1793del) deletion Pathogenic rs587779396 GRCh37 Chromosome 14, 23884383: 23884385
20 MYH7 NM_000257.3(MYH7): c.2710C> T (p.Arg904Cys) single nucleotide variant Pathogenic rs727503253 GRCh37 Chromosome 14, 23893328: 23893328
21 SCN5A NM_198056.2(SCN5A): c.2550_2551dupGT (p.Phe851Cysfs) duplication Pathogenic rs397514450 GRCh37 Chromosome 3, 38627418: 38627419
22 MYH7 NM_000257.3(MYH7): c.1544T> C (p.Met515Thr) single nucleotide variant Likely pathogenic rs863224900 GRCh37 Chromosome 14, 23897743: 23897743
23 TPM1 NM_001018004.1(TPM1): c.519G> C (p.Glu173Asp) single nucleotide variant Likely pathogenic rs886037905 GRCh38 Chromosome 15, 63060895: 63060895

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)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.31 CDH2 CTNNB1 DSP MEF2A MEF2C SCN5A
2
Show member pathways
12.73 MEF2A MEF2C MYH7 SCN5A TPM1
3
Show member pathways
12.32 CTNNB1 MEF2C MYH7 NKX2-5
4
Show member pathways
12.26 CDH2 CTNNB1 DSP GJA1
5 12.05 CTNNB1 CTNND1 NKX2-5
6
Show member pathways
12.02 CDH2 CTNNB1 GJA1
7 12.02 CTNNB1 GJA1 MEF2C SCN5A
8 12 GJA1 MEF2A MEF2C
9 11.92 CTNNB1 MEF2A MEF2C
10 11.92 CDH2 CTNNB1 MEF2A MEF2C
11 11.89 GJA1 MEF2C NKX2-5
12 11.88 CTNNB1 MEF2A MEF2C
13 11.82 CDH2 CTNNB1 MEF2A MEF2C
14 11.65 CDH2 GJA1 MEF2C NKX2-5
15 11.6 CDH2 CTNNB1 CTNND1 DSP GJA1
16 11.47 DSP GJA1 SCN5A
17 11.44 MEF2C NKX2-5 SCN5A
18 11.36 CTNNB1 MEF2C NKX2-5
19
Show member pathways
11.32 CDH2 CTNNB1 MEF2A MEF2C
20 11.27 CDH2 CTNNB1 CTNND1
21 11.26 CDH2 CTNNB1 CTNND1
22 10.92 MEF2C MYH7 NKX2-5
23 10.78 CDH2 CTNNB1 CTNND1 GJA1
24 10.61 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:

id Name GO ID Score Top Affiliating Genes
1 synapse GO:0045202 9.76 CDH2 CTNNB1 CTNND1 SNCA
2 focal adhesion GO:0005925 9.73 CDH2 CTNNB1 GJA1 XIRP1
3 lamellipodium GO:0030027 9.65 CDH2 CTNNB1 CTNND1
4 cell junction GO:0030054 9.63 CDH2 CTNNB1 DSP GJA1 SNCA XIRP1
5 Z disc GO:0030018 9.58 CTNNB1 MYH7 SCN5A
6 cell-cell junction GO:0005911 9.56 CDH2 CTNNB1 CTNND1 DSP
7 stress fiber GO:0001725 9.5 MYH7 TPM1 XIRP1
8 catenin complex GO:0016342 9.37 CDH2 CTNNB1
9 intercalated disc GO:0014704 9.35 CDH2 CTNNB1 DSP GJA1 SCN5A
10 fascia adherens GO:0005916 8.92 CDH2 CTNNB1 DSP GJA1

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

(show all 25)
id Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription from RNA polymerase II promoter GO:0000122 9.97 CTNNB1 MEF2A MEF2C NKX2-5 SNCA
2 negative regulation of canonical Wnt signaling pathway GO:0090090 9.79 CDH2 CTNND1 NKX2-5
3 single organismal cell-cell adhesion GO:0016337 9.72 CTNNB1 CTNND1 DSP
4 muscle contraction GO:0006936 9.71 GJA1 MYH7 TPM1
5 cardiac muscle cell differentiation GO:0055007 9.62 MEF2C NKX2-5
6 telencephalon development GO:0021537 9.62 CDH2 SCN5A
7 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.61 MYH7 TPM1
8 embryonic heart tube development GO:0035050 9.6 CTNNB1 NKX2-5
9 regulation of neurotransmitter secretion GO:0046928 9.59 MEF2C SNCA
10 positive regulation of sodium ion transport GO:0010765 9.58 NKX2-5 SCN5A
11 cardiac muscle hypertrophy in response to stress GO:0014898 9.58 MEF2C MYH7
12 smooth muscle cell differentiation GO:0051145 9.56 CTNNB1 MEF2C
13 cardiac muscle contraction GO:0060048 9.56 MYH7 NKX2-5 SCN5A TPM1
14 cellular response to calcium ion GO:0071277 9.54 MEF2A MEF2C SCN5A
15 adult heart development GO:0007512 9.52 MYH7 NKX2-5
16 entry of bacterium into host cell GO:0035635 9.51 CTNNB1 CTNND1
17 synaptic vesicle transport GO:0048489 9.49 CTNNB1 SNCA
18 atrial cardiac muscle cell action potential GO:0086014 9.48 GJA1 SCN5A
19 positive regulation of skeletal muscle tissue development GO:0048643 9.46 CTNNB1 MEF2C
20 adherens junction organization GO:0034332 9.46 CDH2 CTNNB1 CTNND1 DSP
21 positive regulation of behavioral fear response GO:2000987 9.43 GJA1 MEF2C
22 heart development GO:0007507 9.43 CTNNB1 GJA1 MEF2A MEF2C NKX2-5 XIRP1
23 cardiac ventricle formation GO:0003211 9.4 MEF2C NKX2-5
24 ventricular cardiac myofibril assembly GO:0055005 9.32 MEF2A NKX2-5
25 positive regulation of muscle cell differentiation GO:0051149 8.92 CDH2 CTNNB1 MEF2A MEF2C

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

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 protein heterodimerization activity GO:0046982 9.8 CTNNB1 MEF2A MEF2C NKX2-5
2 protein binding GO:0005515 9.77 CDH2 CTNNB1 CTNND1 DSP GJA1 MEF2A
3 chromatin binding GO:0003682 9.73 CTNNB1 MEF2A MEF2C NKX2-5
4 enzyme binding GO:0019899 9.71 CDH2 CTNNB1 SCN5A SNCA
5 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000978 9.67 CTNNB1 MEF2A MEF2C NKX2-5
6 disordered domain specific binding GO:0097718 9.48 CTNNB1 GJA1
7 activating transcription factor binding GO:0033613 9.46 MEF2A MEF2C
8 transcription regulatory region DNA binding GO:0044212 9.46 CTNNB1 MEF2C NKX2-5 SNCA
9 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 9.43 MEF2A MEF2C NKX2-5
10 alpha-catenin binding GO:0045294 9.32 CDH2 CTNNB1
11 protein kinase binding GO:0019901 9.02 CDH2 CTNNB1 CTNND1 MEF2A SCN5A

Sources for Cardiomyopathy, Dilated, 1e

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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