CMD1E
MCID: CRD099
MIFTS: 54

Cardiomyopathy, Dilated, 1e (CMD1E)

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1e

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1e:

Name: Cardiomyopathy, Dilated, 1e 57 13 73
Left Ventricular Noncompaction 9 57 75 29 6 73
Left Ventricular Noncompaction 5 57 53 29 6 73
Cardiomyopathy, Dilated, 1s 57 53 13 73
Dilated Cardiomyopathy 1e 12 29 6 15
Cardiomyopathy, Dilated, 1y 57 13 73
Dilated Cardiomyopathy 1s 12 29 6
Dilated Cardiomyopathy 1y 12 29 6
Cmd1e 57 12 75
Cdcd2 57 12 75
Cmd1y 57 12 75
Cmd1s 57 12 75
Dilated Cardiomyopathy with Conduction Disorder and Arrhythmia 12 75
Dilated Cardiomyopathy with Conduction Defect 2 12 75
Cardiomyopathy, Dilated, with Conduction Disorder and Arrhythmia 57
Cardiomyopathy, Dilated, with Conduction Defect 2; Cdcd2 57
Cardiomyopathy Dilated with Conduction Defect Type 2 53
Cardiomyopathy, Dilated, with Conduction Defect 2 57
Cardiomyopathy, Dilated, Type 1s ) 40
Left Ventricular Non-Compaction 5 75
Left Ventricular Non-Compaction 9 75
Cardiomyopathy, Dilated, Type 1e 40
Cardiomyopathy, Dilated, Type 1y 40
Cardiomyopathy, Dilated 1e 75
Cardiomyopathy, Dilated 1s 75
Cardiomyopathy, Dilated 1y 75
Dilated Cardiomyopathy-1s 53
Lvnc5 75
Lvnc9 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


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 : 75 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 5: A form of left ventricular non-compaction, a cardiomyopathy due to myocardial morphogenesis arrest and characterized by a hypertrophic left ventricle, a severely thickened 2-layered myocardium, numerous prominent trabeculations, deep intertrabecular recesses, and poor systolic function. Clinical manifestations are variable. Some affected individuals experience no symptoms at all, others develop heart failure. In some cases, left ventricular non-compaction is associated with other congenital heart anomalies. LVNC5 is an autosomal dominant condition. Left ventricular non-compaction 9: A form of left ventricular non-compaction, a cardiomyopathy due to myocardial morphogenesis arrest and characterized by a hypertrophic left ventricle, a severely thickened 2-layered myocardium, numerous prominent trabeculations, deep intertrabecular recesses, and poor systolic function. Clinical manifestations are variable. Some affected individuals experience no symptoms at all, others develop heart failure. In some cases, left ventricular non-compaction is associated with other congenital heart anomalies. LVNC9 is an autosomal dominant condition.

MalaCards based summary : Cardiomyopathy, Dilated, 1e, also known as left ventricular noncompaction 9, is related to campomelic dysplasia and first-degree atrioventricular block, and has symptoms including syncope 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 Cardiac conduction. Affiliated tissues include heart and skin, and related phenotypes are atrioventricular block and congestive heart failure

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
Autoimmune Cardiomyopathy Dilated Cardiomyopathy 1t
Lmna-Related Dilated Cardiomyopathy Cardiomyopathy Due to Anthracyclines

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

(show all 38)
# Related Disease Score Top Affiliating Genes
1 campomelic dysplasia 32.3 LMNA RBM20 TTN
2 first-degree atrioventricular block 10.2 MYH7 SCN5A
3 cardioneuromyopathy with hyaline masses and nemaline rods 10.2 DES TTN
4 familial progressive cardiac conduction defect 10.2 NKX2-5 SCN5A
5 sick sinus syndrome 10.2 LMNA SCN5A TTN
6 myopathy, spheroid body 10.1 DES MYH7 TTN
7 pulmonary valve stenosis 10.1 RBM20 SCN5A
8 cardiomyopathy, familial hypertrophic, 1 10.1 MYH7 TPM1 TTN
9 cardiomyopathy, dilated, 1h 10.1 LMNA SNCA
10 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 10.1 DSP MYH7 SCN5A
11 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.1 DSP LMNA TTN
12 reducing body myopathy 10.1 DES TTN
13 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.1 DSP LMNA TTN
14 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.1 DSP LMNA TTN
15 myofibrillar myopathy 10.1 DES LMNA TTN
16 ebstein anomaly 10.1 MYH7 NKX2-5 TPM1
17 arrhythmogenic right ventricular dysplasia, familial, 1 10.1 DSP TTN
18 neuromuscular disease 10.1 DES LMNA TTN
19 atrioventricular block 10.1 LMNA NKX2-5 SCN5A
20 restrictive cardiomyopathy 10.1 DES MYH7 TPM1 TTN
21 cardiac conduction defect 10.0 DSP LMNA MYH7 SCN5A
22 cardiac arrest 10.0 DSP MYH7 SCN5A
23 ventricular fibrillation, paroxysmal familial, 1 10.0 DSP NKX2-5 SCN5A
24 muscular dystrophy, congenital, lmna-related 10.0 LMNA MEF2A MEF2C TTN
25 heart septal defect 10.0 MEF2A MEF2C NKX2-5
26 proximal spinal muscular atrophy 10.0 DES LMNA
27 familial isolated dilated cardiomyopathy 9.9 DES MYH7 RBM20 SCN5A TPM1 TTN
28 cardiomyopathy, dilated, with woolly hair and keratoderma 9.8 CDH2 DSP GJA1
29 atrial standstill 1 9.8 DES DSP LMNA MYH7 SCN5A TTN
30 pulmonary sclerosing hemangioma 9.8 CTNNB1 CTNND1
31 hypoplastic left heart syndrome 9.8 CDH2 GJA1 NKX2-5
32 hypertrophic cardiomyopathy 9.8 DES DSP LMNA MYH7 SCN5A TPM1
33 intrinsic cardiomyopathy 9.8 DSP LMNA MYH7 RBM20 SCN5A TPM1
34 arrhythmogenic right ventricular dysplasia, familial, 5 9.6 CDH2 MEF2A MEF2C NKX2-5 SCN5A XIRP1
35 left ventricular noncompaction 9.5 DES DSP LMNA MYH7 NKX2-5 SCN5A
36 heart disease 9.4 DSP GJA1 LMNA MEF2A MYH7 NKX2-5
37 arrhythmogenic right ventricular cardiomyopathy 9.0 CDH2 CTNNB1 DES DSP GJA1 LMNA
38 dilated cardiomyopathy 8.9 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:

57
Cardiovascular Heart:
atrioventricular block
syncope
atrial fibrillation
right bundle branch block
palpitations
more

Clinical features from OMIM:

601154 611878 613426

Human phenotypes related to Cardiomyopathy, Dilated, 1e:

32 (show all 22)
# Description HPO Frequency HPO Source Accession
1 atrioventricular block 32 HP:0001678
2 congestive heart failure 32 HP:0001635
3 bicuspid aortic valve 32 occasional (7.5%) HP:0001647
4 coarctation of aorta 32 occasional (7.5%) HP:0001680
5 dilated cardiomyopathy 32 HP:0001644
6 stroke 32 HP:0001297
7 syncope 32 HP:0001279
8 atrial fibrillation 32 HP:0005110
9 right bundle branch block 32 HP:0011712
10 tricuspid regurgitation 32 occasional (7.5%) HP:0005180
11 supraventricular tachycardia 32 HP:0004755
12 ventricular tachycardia 32 HP:0004756
13 ventricular extrasystoles 32 HP:0006682
14 reduced systolic function 32 HP:0006673
15 pulmonary artery hypoplasia 32 occasional (7.5%) HP:0004971
16 ventricular arrhythmia 32 occasional (7.5%) HP:0004308
17 palpitations 32 HP:0001962
18 atrial flutter 32 HP:0004749
19 atrial standstill 32 HP:0025478
20 left ventricular noncompaction 32 occasional (7.5%) HP:0030682
21 left bundle branch block 32 HP:0011713
22 premature atrial contractions 32 HP:0006699

UMLS symptoms related to Cardiomyopathy, Dilated, 1e:


syncope

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

26
# 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.35 CDH2 CTNNB1 DES DSP GJA1 LMNA
2 cellular MP:0005384 10.23 CDH2 CTNNB1 CTNND1 DES DSP GJA1
3 growth/size/body region MP:0005378 10.15 CDH2 CTNNB1 DSP GJA1 LMNA MEF2A
4 mortality/aging MP:0010768 10.07 CDH2 CTNNB1 CTNND1 DES DSP GJA1
5 embryo MP:0005380 10.01 CDH2 CTNNB1 DSP GJA1 MEF2C NKX2-5
6 muscle MP:0005369 10 CDH2 CTNNB1 DES DSP GJA1 LMNA
7 craniofacial MP:0005382 9.98 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 9.28 CTNNB1 GJA1 LMNA MEF2A MEF2C NKX2-5

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 29 MYH7
2 Dilated Cardiomyopathy 1e 29 SCN5A
3 Dilated Cardiomyopathy 1y 29 TPM1
4 Left Ventricular Noncompaction 5 29
5 Left Ventricular Noncompaction 9 29

Anatomical Context for Cardiomyopathy, Dilated, 1e

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

41
Heart, Skin

Publications for Cardiomyopathy, Dilated, 1e

Variations for Cardiomyopathy, Dilated, 1e

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

75 (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.Glu1573Lys VAR_073884 rs750987717
21 MYH7 p.Ser1776Thr VAR_073885
22 MYH7 p.Asn1918Lys VAR_073888
23 MYH7 p.Phe252Leu VAR_080399
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 top 50) (show all 176)
# Gene Variation Type Significance SNP ID Assembly Location
1 RBM20 NM_001134363.2(RBM20): c.1913C> T (p.Pro638Leu) single nucleotide variant Pathogenic rs267607003 GRCh37 Chromosome 10, 112572068: 112572068
2 RBM20 NM_001134363.2(RBM20): c.1913C> T (p.Pro638Leu) single nucleotide variant Pathogenic rs267607003 GRCh38 Chromosome 10, 110812310: 110812310
3 NEXN NM_144573.3(NEXN): c.1955A> G (p.Tyr652Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs137853197 GRCh37 Chromosome 1, 78408441: 78408441
4 NEXN NM_144573.3(NEXN): c.1955A> G (p.Tyr652Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs137853197 GRCh38 Chromosome 1, 77942756: 77942756
5 SCN5A NM_000335.4(SCN5A): c.659C> T (p.Thr220Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs45620037 GRCh37 Chromosome 3, 38655278: 38655278
6 SCN5A NM_000335.4(SCN5A): c.659C> T (p.Thr220Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs45620037 GRCh38 Chromosome 3, 38613787: 38613787
7 SCN5A NM_198056.2(SCN5A): c.3823G> A (p.Asp1275Asn) single nucleotide variant Pathogenic rs137854618 GRCh37 Chromosome 3, 38607917: 38607917
8 SCN5A NM_198056.2(SCN5A): c.3823G> A (p.Asp1275Asn) single nucleotide variant Pathogenic rs137854618 GRCh38 Chromosome 3, 38566426: 38566426
9 SCN5A NM_000335.4(SCN5A): c.4780G> C (p.Asp1594His) single nucleotide variant Pathogenic rs137854607 GRCh37 Chromosome 3, 38595800: 38595800
10 SCN5A NM_000335.4(SCN5A): c.4780G> C (p.Asp1594His) single nucleotide variant Pathogenic rs137854607 GRCh38 Chromosome 3, 38554309: 38554309
11 TNNC1 NM_003280.2(TNNC1): c.435C> A (p.Asp145Glu) single nucleotide variant Uncertain significance rs267607124 GRCh37 Chromosome 3, 52485426: 52485426
12 TNNC1 NM_003280.2(TNNC1): c.435C> A (p.Asp145Glu) single nucleotide variant Uncertain significance rs267607124 GRCh38 Chromosome 3, 52451410: 52451410
13 TPM1 NM_001018005.1(TPM1): c.160G> A (p.Glu54Lys) single nucleotide variant Pathogenic rs104894505 GRCh37 Chromosome 15, 63336271: 63336271
14 TPM1 NM_001018005.1(TPM1): c.160G> A (p.Glu54Lys) single nucleotide variant Pathogenic rs104894505 GRCh38 Chromosome 15, 63044072: 63044072
15 TPM1 NM_001018005.1(TPM1): c.118G> A (p.Glu40Lys) single nucleotide variant Pathogenic rs104894501 GRCh37 Chromosome 15, 63336229: 63336229
16 TPM1 NM_001018005.1(TPM1): c.118G> A (p.Glu40Lys) single nucleotide variant Pathogenic rs104894501 GRCh38 Chromosome 15, 63044030: 63044030
17 MYH7 NM_000257.3(MYH7): c.1207C> T (p.Arg403Trp) single nucleotide variant Pathogenic rs3218714 GRCh37 Chromosome 14, 23898488: 23898488
18 MYH7 NM_000257.3(MYH7): c.1207C> T (p.Arg403Trp) single nucleotide variant Pathogenic rs3218714 GRCh38 Chromosome 14, 23429279: 23429279
19 MYH7 NM_000257.3(MYH7): c.1594T> C (p.Ser532Pro) single nucleotide variant Pathogenic rs121913642 GRCh37 Chromosome 14, 23897088: 23897088
20 MYH7 NM_000257.3(MYH7): c.1594T> C (p.Ser532Pro) single nucleotide variant Pathogenic rs121913642 GRCh38 Chromosome 14, 23427879: 23427879
21 MYH7 NM_000257.3(MYH7): c.2292C> G (p.Phe764Leu) single nucleotide variant Pathogenic rs121913643 GRCh37 Chromosome 14, 23894622: 23894622
22 MYH7 NM_000257.3(MYH7): c.2292C> G (p.Phe764Leu) single nucleotide variant Pathogenic rs121913643 GRCh38 Chromosome 14, 23425413: 23425413
23 MYH7 NM_000257.3(MYH7): c.667G> A (p.Ala223Thr) single nucleotide variant Pathogenic rs121913645 GRCh37 Chromosome 14, 23900859: 23900859
24 MYH7 NM_000257.3(MYH7): c.667G> A (p.Ala223Thr) single nucleotide variant Pathogenic rs121913645 GRCh38 Chromosome 14, 23431650: 23431650
25 MYH7 NM_000257.3(MYH7): c.1925C> T (p.Ser642Leu) single nucleotide variant Pathogenic rs121913646 GRCh37 Chromosome 14, 23896480: 23896480
26 MYH7 NM_000257.3(MYH7): c.1925C> T (p.Ser642Leu) single nucleotide variant Pathogenic rs121913646 GRCh38 Chromosome 14, 23427271: 23427271
27 MYH7 NM_000257.3(MYH7): c.5378T> C (p.Leu1793Pro) single nucleotide variant Pathogenic rs121913654 GRCh37 Chromosome 14, 23884385: 23884385
28 MYH7 NM_000257.3(MYH7): c.5378T> C (p.Leu1793Pro) single nucleotide variant Pathogenic rs121913654 GRCh38 Chromosome 14, 23415176: 23415176
29 MYH7 NM_000257.3(MYH7): c.728G> A (p.Arg243His) single nucleotide variant Conflicting interpretations of pathogenicity rs267606910 GRCh37 Chromosome 14, 23900798: 23900798
30 MYH7 NM_000257.3(MYH7): c.728G> A (p.Arg243His) single nucleotide variant Conflicting interpretations of pathogenicity rs267606910 GRCh38 Chromosome 14, 23431589: 23431589
31 MYH7 NM_000257.3(MYH7): c.732+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs730880850 GRCh38 Chromosome 14, 23431584: 23431584
32 MYH7 NM_000257.3(MYH7): c.732+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs730880850 GRCh37 Chromosome 14, 23900793: 23900793
33 MYH7 NM_000257.3(MYH7): c.5296G> A (p.Ala1766Thr) single nucleotide variant Pathogenic rs267606909 GRCh37 Chromosome 14, 23884467: 23884467
34 MYH7 NM_000257.3(MYH7): c.5296G> A (p.Ala1766Thr) single nucleotide variant Pathogenic rs267606909 GRCh38 Chromosome 14, 23415258: 23415258
35 TPM1 NM_001018005.1(TPM1): c.574G> A (p.Glu192Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs199476315 GRCh37 Chromosome 15, 63353922: 63353922
36 TPM1 NM_001018005.1(TPM1): c.574G> A (p.Glu192Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs199476315 GRCh38 Chromosome 15, 63061723: 63061723
37 TPM1 NM_001018005.1(TPM1): c.688G> A (p.Asp230Asn) single nucleotide variant Pathogenic rs199476317 GRCh37 Chromosome 15, 63354462: 63354462
38 TPM1 NM_001018005.1(TPM1): c.688G> A (p.Asp230Asn) single nucleotide variant Pathogenic rs199476317 GRCh38 Chromosome 15, 63062263: 63062263
39 TPM1 NM_001018005.1(TPM1): c.742A> G (p.Lys248Glu) single nucleotide variant Pathogenic rs199476319 GRCh37 Chromosome 15, 63354814: 63354814
40 TPM1 NM_001018005.1(TPM1): c.742A> G (p.Lys248Glu) single nucleotide variant Pathogenic rs199476319 GRCh38 Chromosome 15, 63062615: 63062615
41 SCN5A NM_198056.2(SCN5A): c.665G> A (p.Arg222Gln) single nucleotide variant Pathogenic rs45546039 GRCh37 Chromosome 3, 38655272: 38655272
42 SCN5A NM_198056.2(SCN5A): c.665G> A (p.Arg222Gln) single nucleotide variant Pathogenic rs45546039 GRCh38 Chromosome 3, 38613781: 38613781
43 SCN5A NM_000335.4(SCN5A): c.5504T> C (p.Ile1835Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs45563942 GRCh37 Chromosome 3, 38592356: 38592356
44 SCN5A NM_000335.4(SCN5A): c.5504T> C (p.Ile1835Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs45563942 GRCh38 Chromosome 3, 38550865: 38550865
45 MYH7 NM_000257.3(MYH7): c.1106G> A (p.Arg369Gln) single nucleotide variant Likely pathogenic rs397516089 GRCh37 Chromosome 14, 23899016: 23899016
46 MYH7 NM_000257.3(MYH7): c.1106G> A (p.Arg369Gln) single nucleotide variant Likely pathogenic rs397516089 GRCh38 Chromosome 14, 23429807: 23429807
47 MYH7 NM_000257.3(MYH7): c.1987C> T (p.Arg663Cys) single nucleotide variant Pathogenic/Likely pathogenic rs397516127 GRCh37 Chromosome 14, 23896043: 23896043
48 MYH7 NM_000257.3(MYH7): c.1987C> T (p.Arg663Cys) single nucleotide variant Pathogenic/Likely pathogenic rs397516127 GRCh38 Chromosome 14, 23426834: 23426834
49 MYH7 NM_000257.3(MYH7): c.1988G> A (p.Arg663His) single nucleotide variant Pathogenic rs371898076 GRCh37 Chromosome 14, 23896042: 23896042
50 MYH7 NM_000257.3(MYH7): c.1988G> A (p.Arg663His) single nucleotide variant Pathogenic rs371898076 GRCh38 Chromosome 14, 23426833: 23426833

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 26)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.88 CTNNB1 GJA1 MEF2A MEF2C SCN5A
2
Show member pathways
12.72 DES NKX2-5 SCN5A TPM1 TTN
3 12.38 CTNND1 DES GJA1 LMNA TPM1
4
Show member pathways
12.34 CTNNB1 MEF2C MYH7 NKX2-5
5 12.07 CTNNB1 GJA1 MEF2C SCN5A
6
Show member pathways
12.04 DES LMNA MYH7 TPM1 TTN
7
Show member pathways
12.04 CDH2 CTNNB1 DES DSP GJA1 LMNA
8 11.98 CDH2 CTNNB1 MEF2A MEF2C
9
Show member pathways
11.96 CDH2 CTNNB1 GJA1
10 11.94 CTNNB1 MEF2A MEF2C
11 11.93 CTNNB1 LMNA MEF2A MEF2C
12 11.92 GJA1 MEF2C NKX2-5
13 11.87 CDH2 CTNNB1 MEF2A MEF2C
14
Show member pathways
11.85 CTNNB1 DSP LMNA
15 11.74 CDH2 CTNNB1 CTNND1 DSP GJA1
16 11.62 DES TPM1 TTN
17 11.48 MEF2C NKX2-5 SCN5A
18
Show member pathways
11.43 CDH2 CTNNB1 MEF2A MEF2C
19 11.41 CTNNB1 MEF2C NKX2-5
20 11.37 DSP GJA1 LMNA SCN5A
21 11.33 CDH2 CTNNB1 CTNND1
22 11.31 CDH2 CTNNB1 CTNND1
23 10.98 MEF2C MYH7 NKX2-5
24 10.78 CDH2 CTNNB1 CTNND1 GJA1
25 10.72 MEF2A MEF2C NKX2-5
26 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 16)
# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.93 CDH2 CTNNB1 DSP GJA1 SNCA XIRP1
2 sarcolemma GO:0042383 9.7 CDH2 DES SCN5A
3 cell-cell adherens junction GO:0005913 9.69 CDH2 CTNNB1 CTNND1
4 intermediate filament GO:0005882 9.67 DES DSP GJA1 LMNA
5 sarcomere GO:0030017 9.65 MYH7 TPM1 TTN
6 Z disc GO:0030018 9.65 CTNNB1 DES MYH7 SCN5A TTN
7 cell-cell junction GO:0005911 9.63 CDH2 CTNNB1 CTNND1 DES DSP GJA1
8 stress fiber GO:0001725 9.61 MYH7 TPM1 XIRP1
9 lateral plasma membrane GO:0016328 9.58 CTNNB1 GJA1 SCN5A
10 contractile fiber GO:0043292 9.56 DES GJA1
11 postsynaptic density, intracellular component GO:0099092 9.55 CTNNB1 CTNND1
12 presynaptic active zone cytoplasmic component GO:0098831 9.54 CTNNB1 CTNND1
13 catenin complex GO:0016342 9.5 CDH2 CTNNB1 CTNND1
14 intercalated disc GO:0014704 9.43 CDH2 CTNNB1 DES DSP GJA1 SCN5A
15 fascia adherens GO:0005916 9.02 CDH2 CTNNB1 DES DSP GJA1
16 cytoplasm GO:0005737 10.31 CDH2 CTNNB1 CTNND1 DES DSP GJA1

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

(show all 39)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.91 CTNNB1 GJA1 LMNA MEF2C NKX2-5 TTN
2 negative regulation of canonical Wnt signaling pathway GO:0090090 9.85 CDH2 CTNND1 NKX2-5
3 neuron migration GO:0001764 9.83 CTNNB1 GJA1 MEF2C
4 cell-cell adhesion GO:0098609 9.81 CDH2 CTNNB1 CTNND1 DSP
5 cellular response to calcium ion GO:0071277 9.79 MEF2A MEF2C SCN5A
6 heart looping GO:0001947 9.75 GJA1 MEF2C NKX2-5
7 positive regulation of osteoblast differentiation GO:0045669 9.74 CTNNB1 GJA1 MEF2C
8 sarcomere organization GO:0045214 9.7 NKX2-5 TPM1 TTN
9 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.68 GJA1 SCN5A
10 negative regulation of vascular associated smooth muscle cell migration GO:1904753 9.68 MEF2C TPM1
11 regulation of neurotransmitter secretion GO:0046928 9.67 MEF2C SNCA
12 cardiac muscle tissue morphogenesis GO:0055008 9.67 NKX2-5 TTN
13 regulation of heart contraction GO:0008016 9.67 DES GJA1 TPM1
14 adherens junction organization GO:0034332 9.67 CDH2 CTNNB1 CTNND1 DSP
15 intermediate filament organization GO:0045109 9.66 DES DSP
16 positive regulation of sodium ion transport GO:0010765 9.66 NKX2-5 SCN5A
17 striated muscle contraction GO:0006941 9.65 MYH7 TTN
18 cardiac muscle hypertrophy in response to stress GO:0014898 9.65 MEF2C MYH7
19 muscle contraction GO:0006936 9.65 DES GJA1 MYH7 TPM1 TTN
20 synaptic vesicle transport GO:0048489 9.64 CTNNB1 SNCA
21 smooth muscle cell differentiation GO:0051145 9.64 CTNNB1 MEF2C
22 cardiac conduction GO:0061337 9.63 GJA1 MEF2A
23 regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 9.63 GJA1 SCN5A
24 embryonic heart tube development GO:0035050 9.63 CTNNB1 GJA1 NKX2-5
25 ventricular cardiac muscle cell development GO:0055015 9.62 LMNA NKX2-5
26 muscle filament sliding GO:0030049 9.62 DES MYH7 TPM1 TTN
27 atrial cardiac muscle cell action potential GO:0086014 9.61 GJA1 SCN5A
28 cellular response to parathyroid hormone stimulus GO:0071374 9.61 GJA1 MEF2C
29 positive regulation of skeletal muscle tissue development GO:0048643 9.6 CTNNB1 MEF2C
30 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.59 GJA1 SCN5A
31 entry of bacterium into host cell GO:0035635 9.58 CTNNB1 CTNND1
32 adult heart development GO:0007512 9.58 GJA1 MYH7 NKX2-5
33 positive regulation of behavioral fear response GO:2000987 9.56 GJA1 MEF2C
34 cardiac ventricle formation GO:0003211 9.55 MEF2C NKX2-5
35 regulation of transmembrane transporter activity GO:0022898 9.54 GJA1 SNCA
36 heart development GO:0007507 9.5 CTNNB1 GJA1 MEF2A MEF2C NKX2-5 RBM20
37 ventricular cardiac myofibril assembly GO:0055005 9.48 MEF2A NKX2-5
38 positive regulation of muscle cell differentiation GO:0051149 9.46 CDH2 CTNNB1 MEF2A MEF2C
39 cardiac muscle contraction GO:0060048 9.02 MYH7 NKX2-5 SCN5A TPM1 TTN

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.86 CDH2 CTNNB1 CTNND1 DES DSP GJA1
2 actin binding GO:0003779 9.8 MYH7 SNCA TPM1 XIRP1
3 protein heterodimerization activity GO:0046982 9.8 CTNNB1 MEF2A MEF2C NKX2-5 TPM1
4 structural constituent of cytoskeleton GO:0005200 9.65 DES DSP TPM1
5 cytoskeletal protein binding GO:0008092 9.63 CDH2 DES TPM1
6 actin filament binding GO:0051015 9.56 MYH7 TPM1 TTN XIRP1
7 enzyme binding GO:0019899 9.55 CDH2 CTNNB1 SCN5A SNCA TTN
8 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 9.54 MEF2A MEF2C NKX2-5
9 scaffold protein binding GO:0097110 9.5 DSP GJA1 SCN5A
10 alpha-catenin binding GO:0045294 9.43 CDH2 CTNNB1
11 protein kinase binding GO:0019901 9.1 CDH2 CTNNB1 CTNND1 MEF2A SCN5A TTN

Sources for Cardiomyopathy, Dilated, 1e

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....