MCID: CRD099
MIFTS: 52

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 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 related phenotypes are syncope and stroke

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
Dmd-Related Dilated 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 31)
# Related Disease Score Top Affiliating Genes
1 campomelic dysplasia 11.2
2 first-degree atrioventricular block 10.6 MYH7 SCN5A
3 cardioneuromyopathy with hyaline masses and nemaline rods 10.5 DES TTN
4 peripartum cardiomyopathy 10.5 MYH7 SCN5A TTN
5 pulmonary valve stenosis 10.5 RBM20 SCN5A
6 myopathy, spheroid body 10.4 DES MYH7 TTN
7 familial progressive cardiac conduction defect 10.4 NKX2-5 SCN5A
8 reducing body myopathy 10.3 DES TTN
9 muscular dystrophy, congenital, lmna-related 10.3 LMNA MEF2C TTN
10 cardiomyopathy, dilated, 1h 10.2 LMNA SNCA
11 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.2 DSP LMNA TTN
12 restrictive cardiomyopathy 10.2 DES MYH7 TPM1 TTN
13 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.2 DSP LMNA TTN
14 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.2 DSP LMNA TTN
15 ebstein anomaly 10.2 MYH7 NKX2-5 TPM1
16 atrioventricular block 10.0 LMNA NKX2-5 SCN5A
17 familial bicuspid aortic valve 10.0 DSP NKX2-5
18 cardiac conduction defect 10.0 DSP LMNA MYH7 SCN5A
19 proximal spinal muscular atrophy 9.9 DES LMNA
20 ventricular fibrillation, paroxysmal familial, 1 9.9 DSP NKX2-5 SCN5A
21 familial isolated dilated cardiomyopathy 9.7 DES MYH7 RBM20 SCN5A TPM1 TTN
22 pulmonary sclerosing hemangioma 9.4 CTNNB1 CTNND1
23 atrial standstill 1 9.4 DES DSP LMNA MYH7 SCN5A TTN
24 hypoplastic left heart syndrome 9.4 CDH2 GJA1 NKX2-5
25 hypertrophic cardiomyopathy 9.3 DES DSP LMNA MYH7 TPM1 TTN
26 intrinsic cardiomyopathy 9.1 DSP LMNA MYH7 RBM20 SCN5A TPM1
27 left ventricular noncompaction 8.2 DES DSP LMNA MYH7 NKX2-5 SCN5A
28 arrhythmogenic right ventricular dysplasia, familial, 5 7.9 CDH2 CTNNB1 MEF2A MEF2C NKX2-5 SCN5A
29 heart disease 7.9 DSP GJA1 LMNA MEF2A MYH7 NKX2-5
30 arrhythmogenic right ventricular cardiomyopathy 7.2 CDH2 CTNNB1 DES DSP GJA1 LMNA
31 dilated cardiomyopathy 6.5 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 syncope 32 HP:0001279
2 stroke 32 HP:0001297
3 dilated cardiomyopathy 32 HP:0001644
4 atrioventricular block 32 HP:0001678
5 palpitations 32 HP:0001962
6 atrial flutter 32 HP:0004749
7 supraventricular tachycardia 32 HP:0004755
8 atrial fibrillation 32 HP:0005110
9 reduced systolic function 32 HP:0006673
10 ventricular extrasystoles 32 HP:0006682
11 premature atrial contractions 32 HP:0006699
12 right bundle branch block 32 HP:0011712
13 left bundle branch block 32 HP:0011713
14 atrial standstill 32 HP:0025478
15 congestive heart failure 32 HP:0001635
16 ventricular tachycardia 32 HP:0004756
17 bicuspid aortic valve 32 occasional (7.5%) HP:0001647
18 coarctation of aorta 32 occasional (7.5%) HP:0001680
19 ventricular arrhythmia 32 occasional (7.5%) HP:0004308
20 pulmonary artery hypoplasia 32 occasional (7.5%) HP:0004971
21 tricuspid regurgitation 32 occasional (7.5%) HP:0005180
22 left ventricular noncompaction 32 occasional (7.5%) HP:0030682

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 GJA1 TPM1 CDH2 CTNNB1 CTNND1
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 10.33 CDH2 CTNNB1 DES DSP GJA1 LMNA
2 cellular MP:0005384 10.21 MEF2C NKX2-5 SNCA TTN CDH2 CTNNB1
3 growth/size/body region MP:0005378 10.1 DSP GJA1 LMNA MEF2A MEF2C NKX2-5
4 mortality/aging MP:0010768 10.07 CDH2 CTNNB1 CTNND1 DES DSP GJA1
5 muscle MP:0005369 10 MYH7 NKX2-5 RBM20 SCN5A TTN XIRP1
6 embryo MP:0005380 9.97 SCN5A TTN CDH2 CTNNB1 DSP GJA1
7 craniofacial MP:0005382 9.95 CTNNB1 DSP GJA1 LMNA MEF2C NKX2-5
8 nervous system MP:0003631 9.7 CDH2 CTNNB1 CTNND1 DSP GJA1 LMNA
9 normal MP:0002873 9.28 MEF2C NKX2-5 SCN5A SNCA TTN CTNNB1

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

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 142)
# 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 SCN5A NM_198056.2(SCN5A): c.3823G> A (p.Asp1275Asn) single nucleotide variant Pathogenic rs137854618 GRCh37 Chromosome 3, 38607917: 38607917
4 SCN5A NM_198056.2(SCN5A): c.3823G> A (p.Asp1275Asn) single nucleotide variant Pathogenic rs137854618 GRCh38 Chromosome 3, 38566426: 38566426
5 SCN5A NM_000335.4(SCN5A): c.4780G> C (p.Asp1594His) single nucleotide variant Pathogenic rs137854607 GRCh37 Chromosome 3, 38595800: 38595800
6 SCN5A NM_000335.4(SCN5A): c.4780G> C (p.Asp1594His) single nucleotide variant Pathogenic rs137854607 GRCh38 Chromosome 3, 38554309: 38554309
7 TPM1 NM_001018005.1(TPM1): c.160G> A (p.Glu54Lys) single nucleotide variant Pathogenic rs104894505 GRCh37 Chromosome 15, 63336271: 63336271
8 TPM1 NM_001018005.1(TPM1): c.160G> A (p.Glu54Lys) single nucleotide variant Pathogenic rs104894505 GRCh38 Chromosome 15, 63044072: 63044072
9 TPM1 NM_001018005.1(TPM1): c.118G> A (p.Glu40Lys) single nucleotide variant Pathogenic rs104894501 GRCh37 Chromosome 15, 63336229: 63336229
10 TPM1 NM_001018005.1(TPM1): c.118G> A (p.Glu40Lys) single nucleotide variant Pathogenic rs104894501 GRCh38 Chromosome 15, 63044030: 63044030
11 MYH7 NM_000257.3(MYH7): c.1207C> T (p.Arg403Trp) single nucleotide variant Pathogenic rs3218714 GRCh37 Chromosome 14, 23898488: 23898488
12 MYH7 NM_000257.3(MYH7): c.1207C> T (p.Arg403Trp) single nucleotide variant Pathogenic rs3218714 GRCh38 Chromosome 14, 23429279: 23429279
13 MYH7 NM_000257.3(MYH7): c.1594T> C (p.Ser532Pro) single nucleotide variant Pathogenic rs121913642 GRCh37 Chromosome 14, 23897088: 23897088
14 MYH7 NM_000257.3(MYH7): c.1594T> C (p.Ser532Pro) single nucleotide variant Pathogenic rs121913642 GRCh38 Chromosome 14, 23427879: 23427879
15 MYH7 NM_000257.3(MYH7): c.2292C> G (p.Phe764Leu) single nucleotide variant Pathogenic rs121913643 GRCh37 Chromosome 14, 23894622: 23894622
16 MYH7 NM_000257.3(MYH7): c.2292C> G (p.Phe764Leu) single nucleotide variant Pathogenic rs121913643 GRCh38 Chromosome 14, 23425413: 23425413
17 MYH7 NM_000257.3(MYH7): c.667G> A (p.Ala223Thr) single nucleotide variant Pathogenic rs121913645 GRCh37 Chromosome 14, 23900859: 23900859
18 MYH7 NM_000257.3(MYH7): c.667G> A (p.Ala223Thr) single nucleotide variant Pathogenic rs121913645 GRCh38 Chromosome 14, 23431650: 23431650
19 MYH7 NM_000257.3(MYH7): c.1925C> T (p.Ser642Leu) single nucleotide variant Pathogenic rs121913646 GRCh37 Chromosome 14, 23896480: 23896480
20 MYH7 NM_000257.3(MYH7): c.1925C> T (p.Ser642Leu) single nucleotide variant Pathogenic rs121913646 GRCh38 Chromosome 14, 23427271: 23427271
21 MYH7 NM_000257.3(MYH7): c.5378T> C (p.Leu1793Pro) single nucleotide variant Pathogenic rs121913654 GRCh37 Chromosome 14, 23884385: 23884385
22 MYH7 NM_000257.3(MYH7): c.5378T> C (p.Leu1793Pro) single nucleotide variant Pathogenic rs121913654 GRCh38 Chromosome 14, 23415176: 23415176
23 MYH7 NM_000257.3(MYH7): c.732+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs730880850 GRCh38 Chromosome 14, 23431584: 23431584
24 MYH7 NM_000257.3(MYH7): c.732+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs730880850 GRCh37 Chromosome 14, 23900793: 23900793
25 MYH7 NM_000257.3(MYH7): c.5296G> A (p.Ala1766Thr) single nucleotide variant Pathogenic rs267606909 GRCh37 Chromosome 14, 23884467: 23884467
26 MYH7 NM_000257.3(MYH7): c.5296G> A (p.Ala1766Thr) single nucleotide variant Pathogenic rs267606909 GRCh38 Chromosome 14, 23415258: 23415258
27 TPM1 NM_001018005.1(TPM1): c.688G> A (p.Asp230Asn) single nucleotide variant Pathogenic rs199476317 GRCh37 Chromosome 15, 63354462: 63354462
28 TPM1 NM_001018005.1(TPM1): c.688G> A (p.Asp230Asn) single nucleotide variant Pathogenic rs199476317 GRCh38 Chromosome 15, 63062263: 63062263
29 TPM1 NM_001018005.1(TPM1): c.742A> G (p.Lys248Glu) single nucleotide variant Pathogenic rs199476319 GRCh37 Chromosome 15, 63354814: 63354814
30 TPM1 NM_001018005.1(TPM1): c.742A> G (p.Lys248Glu) single nucleotide variant Pathogenic rs199476319 GRCh38 Chromosome 15, 63062615: 63062615
31 SCN5A NM_198056.2(SCN5A): c.665G> A (p.Arg222Gln) single nucleotide variant Pathogenic rs45546039 GRCh37 Chromosome 3, 38655272: 38655272
32 SCN5A NM_198056.2(SCN5A): c.665G> A (p.Arg222Gln) single nucleotide variant Pathogenic rs45546039 GRCh38 Chromosome 3, 38613781: 38613781
33 MYH7 NM_000257.3(MYH7): c.1106G> A (p.Arg369Gln) single nucleotide variant Likely pathogenic rs397516089 GRCh37 Chromosome 14, 23899016: 23899016
34 MYH7 NM_000257.3(MYH7): c.1106G> A (p.Arg369Gln) single nucleotide variant Likely pathogenic rs397516089 GRCh38 Chromosome 14, 23429807: 23429807
35 MYH7 NM_000257.3(MYH7): c.1987C> T (p.Arg663Cys) single nucleotide variant Pathogenic/Likely pathogenic rs397516127 GRCh37 Chromosome 14, 23896043: 23896043
36 MYH7 NM_000257.3(MYH7): c.1987C> T (p.Arg663Cys) single nucleotide variant Pathogenic/Likely pathogenic rs397516127 GRCh38 Chromosome 14, 23426834: 23426834
37 MYH7 NM_000257.3(MYH7): c.1988G> A (p.Arg663His) single nucleotide variant Pathogenic rs371898076 GRCh37 Chromosome 14, 23896042: 23896042
38 MYH7 NM_000257.3(MYH7): c.1988G> A (p.Arg663His) single nucleotide variant Pathogenic rs371898076 GRCh38 Chromosome 14, 23426833: 23426833
39 MYH7 NM_000257.3(MYH7): c.2389G> A (p.Ala797Thr) single nucleotide variant Pathogenic/Likely pathogenic rs3218716 GRCh37 Chromosome 14, 23894525: 23894525
40 MYH7 NM_000257.3(MYH7): c.2389G> A (p.Ala797Thr) single nucleotide variant Pathogenic/Likely pathogenic rs3218716 GRCh38 Chromosome 14, 23425316: 23425316
41 MYH7 NM_000257.3(MYH7): c.5740G> A (p.Glu1914Lys) single nucleotide variant Likely pathogenic rs397516254 GRCh37 Chromosome 14, 23883018: 23883018
42 MYH7 NM_000257.3(MYH7): c.5740G> A (p.Glu1914Lys) single nucleotide variant Likely pathogenic rs397516254 GRCh38 Chromosome 14, 23413809: 23413809
43 MYH7 NM_000257.3(MYH7): c.847T> G (p.Tyr283Asp) single nucleotide variant Pathogenic rs397515482 GRCh37 Chromosome 14, 23900158: 23900158
44 MYH7 NM_000257.3(MYH7): c.847T> G (p.Tyr283Asp) single nucleotide variant Pathogenic rs397515482 GRCh38 Chromosome 14, 23430949: 23430949
45 MYH7 NM_000257.2(MYH7): c.5754C> R (p.Asn1918Lys) single nucleotide variant Pathogenic rs138110910 GRCh38 Chromosome 14, 23413795: 23413795
46 MYH7 NM_000257.2(MYH7): c.5754C> R (p.Asn1918Lys) single nucleotide variant Pathogenic rs138110910 GRCh37 Chromosome 14, 23883004: 23883004
47 LMNA NM_170707.3(LMNA): c.568C> T (p.Arg190Trp) single nucleotide variant Pathogenic rs59026483 GRCh37 Chromosome 1, 156104248: 156104248
48 LMNA NM_170707.3(LMNA): c.568C> T (p.Arg190Trp) single nucleotide variant Pathogenic rs59026483 GRCh38 Chromosome 1, 156134457: 156134457
49 LMNA NM_170707.3(LMNA): c.908_909delCT (p.Ser303Cysfs) deletion Pathogenic rs59684335 GRCh37 Chromosome 1, 156105075: 156105076
50 LMNA NM_170707.3(LMNA): c.908_909delCT (p.Ser303Cysfs) deletion Pathogenic rs59684335 GRCh38 Chromosome 1, 156135284: 156135285

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
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 11.94 CTNNB1 MEF2A MEF2C
10 11.93 CTNNB1 LMNA MEF2A MEF2C
11 11.91 GJA1 MEF2C NKX2-5
12 11.87 CDH2 CTNNB1 MEF2A MEF2C
13
Show member pathways
11.85 CTNNB1 DSP LMNA
14 11.74 CDH2 CTNNB1 CTNND1 DSP GJA1
15 11.62 DES TPM1 TTN
16 11.48 MEF2C NKX2-5 SCN5A
17
Show member pathways
11.43 CDH2 CTNNB1 MEF2A MEF2C
18 11.41 CTNNB1 MEF2C NKX2-5
19 11.37 DSP GJA1 LMNA SCN5A
20 11.33 CDH2 CTNNB1 CTNND1
21 11.31 CDH2 CTNNB1 CTNND1
22 10.98 MEF2C MYH7 NKX2-5
23 10.78 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 9.91 CDH2 CTNNB1 DSP GJA1 SNCA XIRP1
2 sarcolemma GO:0042383 9.65 CDH2 DES SCN5A
3 Z disc GO:0030018 9.65 CTNNB1 DES MYH7 SCN5A TTN
4 cell-cell junction GO:0005911 9.63 CDH2 CTNNB1 CTNND1 DES DSP GJA1
5 intermediate filament GO:0005882 9.62 DES DSP GJA1 LMNA
6 lateral plasma membrane GO:0016328 9.58 CTNNB1 GJA1 SCN5A
7 stress fiber GO:0001725 9.54 MYH7 TPM1 XIRP1
8 contractile fiber GO:0043292 9.49 DES GJA1
9 intercalated disc GO:0014704 9.43 CDH2 CTNNB1 DES DSP GJA1 SCN5A
10 fascia adherens GO:0005916 9.02 CDH2 CTNNB1 DES DSP GJA1
11 cytoplasm GO:0005737 10.27 CDH2 CTNNB1 CTNND1 DES DSP GJA1

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

(show all 36)
# 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 cell-cell adhesion GO:0098609 9.84 CTNNB1 CTNND1 DSP
3 neuron migration GO:0001764 9.81 CTNNB1 GJA1 MEF2C
4 cellular response to calcium ion GO:0071277 9.75 MEF2A MEF2C SCN5A
5 heart looping GO:0001947 9.74 GJA1 MEF2C NKX2-5
6 positive regulation of osteoblast differentiation GO:0045669 9.73 CTNNB1 GJA1 MEF2C
7 cardiac conduction GO:0061337 9.7 GJA1 MEF2A SCN5A
8 sarcomere organization GO:0045214 9.69 NKX2-5 TPM1 TTN
9 regulation of neurotransmitter secretion GO:0046928 9.67 MEF2C SNCA
10 regulation of heart contraction GO:0008016 9.67 DES GJA1 TPM1
11 adherens junction organization GO:0034332 9.67 CDH2 CTNNB1 CTNND1 DSP
12 negative regulation of vascular associated smooth muscle cell migration GO:1904753 9.66 MEF2C TPM1
13 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.66 GJA1 SCN5A
14 intermediate filament organization GO:0045109 9.65 DES DSP
15 cardiac muscle tissue morphogenesis GO:0055008 9.65 NKX2-5 TTN
16 synaptic vesicle transport GO:0048489 9.65 CTNNB1 SNCA
17 muscle contraction GO:0006936 9.65 DES GJA1 MYH7 TPM1 TTN
18 positive regulation of sodium ion transport GO:0010765 9.64 NKX2-5 SCN5A
19 smooth muscle cell differentiation GO:0051145 9.63 CTNNB1 MEF2C
20 cardiac muscle hypertrophy in response to stress GO:0014898 9.63 MEF2C MYH7
21 embryonic heart tube development GO:0035050 9.63 CTNNB1 GJA1 NKX2-5
22 entry of bacterium into host cell GO:0035635 9.62 CTNNB1 CTNND1
23 ventricular cardiac muscle cell development GO:0055015 9.62 LMNA NKX2-5
24 muscle filament sliding GO:0030049 9.62 DES MYH7 TPM1 TTN
25 regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 9.61 GJA1 SCN5A
26 positive regulation of skeletal muscle tissue development GO:0048643 9.61 CTNNB1 MEF2C
27 cellular response to parathyroid hormone stimulus GO:0071374 9.6 GJA1 MEF2C
28 atrial cardiac muscle cell action potential GO:0086014 9.59 GJA1 SCN5A
29 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.58 GJA1 SCN5A
30 adult heart development GO:0007512 9.58 GJA1 MYH7 NKX2-5
31 cardiac ventricle formation GO:0003211 9.55 MEF2C NKX2-5
32 positive regulation of behavioral fear response GO:2000987 9.54 GJA1 MEF2C
33 heart development GO:0007507 9.5 CTNNB1 GJA1 MEF2A MEF2C NKX2-5 RBM20
34 ventricular cardiac myofibril assembly GO:0055005 9.48 MEF2A NKX2-5
35 positive regulation of muscle cell differentiation GO:0051149 9.46 CDH2 CTNNB1 MEF2A MEF2C
36 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 12)
# Name GO ID Score Top Affiliating Genes
1 transcription factor binding GO:0008134 9.81 CTNNB1 MEF2A MEF2C NKX2-5
2 protein heterodimerization activity GO:0046982 9.8 CTNNB1 MEF2A MEF2C NKX2-5 TPM1
3 transcription regulatory region DNA binding GO:0044212 9.73 MEF2A MEF2C NKX2-5 SNCA
4 structural constituent of cytoskeleton GO:0005200 9.67 DES DSP TPM1
5 cytoskeletal protein binding GO:0008092 9.65 CDH2 DES TPM1
6 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 9.54 MEF2A MEF2C NKX2-5
7 scaffold protein binding GO:0097110 9.5 DSP GJA1 SCN5A
8 alpha-catenin binding GO:0045294 9.46 CDH2 CTNNB1
9 enzyme binding GO:0019899 9.35 CDH2 CTNNB1 SCN5A SNCA TTN
10 RNA polymerase II activating transcription factor binding GO:0001102 9.33 CTNNB1 MEF2A MEF2C
11 protein kinase binding GO:0019901 9.1 CDH2 CTNNB1 CTNND1 MEF2A SCN5A TTN
12 protein binding GO:0005515 10.16 CDH2 CTNNB1 CTNND1 DES DSP GJA1

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
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