CMD1D
MCID: CRD097
MIFTS: 46

Cardiomyopathy, Dilated, 1d (CMD1D)

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1d

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1d:

Name: Cardiomyopathy, Dilated, 1d 57 13 72
Left Ventricular Noncompaction 6 57 29 6
Cmd1d 57 12 74
Dilated Cardiomyopathy 1d 12 15
Left Ventricular Noncompaction 6, Included; Lvnc6, Included 57
Left Ventricular Noncompaction 6, Included 57
Cardiomyopathy, Dilated 1d 74
Lvnc6, Included 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
cardiomyopathy, dilated, 1d:
Clinical modifier sudden death
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110426
MeSH 44 D002311
ICD10 33 I42.0
MedGen 42 C1832243
UMLS 72 C1832243

Summaries for Cardiomyopathy, Dilated, 1d

UniProtKB/Swiss-Prot : 74 Cardiomyopathy, dilated 1D: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

MalaCards based summary : Cardiomyopathy, Dilated, 1d, also known as left ventricular noncompaction 6, is related to muscular dystrophy-dystroglycanopathy and familial isolated arrhythmogenic ventricular dysplasia, left dominant form. An important gene associated with Cardiomyopathy, Dilated, 1d is TNNT2 (Troponin T2, Cardiac Type), and among its related pathways/superpathways are Degradation of the extracellular matrix and Arrhythmogenic right ventricular cardiomyopathy (ARVC). Affiliated tissues include heart, brain and testes, and related phenotypes are left ventricular hypertrophy and atrial fibrillation

Disease Ontology : 12 A dilated cardiomyopathy that has material basis in mutation in the TNNT2 gene on chromosome 1q32.

More information from OMIM: 601494 PS115200 PS604169

Related Diseases for Cardiomyopathy, Dilated, 1d

Diseases in the Rare 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
Cardiomyopathy, Dilated, 2c Autoimmune Cardiomyopathy
Dilated Cardiomyopathy 1t Dilated Cardiomyopathy
Cardiomyopathy Due to Anthracyclines

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

(show all 36)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy-dystroglycanopathy 10.4 POMGNT1 DAG1
2 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.2 LMNA LDB3
3 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.2 LMNA LDB3
4 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.2 LMNA LDB3
5 isolated hyperckemia 10.1 LAMA2 DMD
6 creatine phosphokinase, elevated serum 10.1 LAMA2 DMD
7 myopathy, myofibrillar, 2 10.1 LDB3 DMD
8 myopathy, x-linked, with excessive autophagy 10.0 LAMA2 DMD
9 familial isolated dilated cardiomyopathy 10.0 TNNT2 LDB3 DMD
10 hypertrophic cardiomyopathy 9.9 TNNT2 LMNA LDB3
11 intrinsic cardiomyopathy 9.9 TNNT2 LMNA DMD
12 atrial standstill 1 9.8 TNNT2 LMNA DMD
13 muscular dystrophy, becker type 9.8 LAMA2 DMD
14 myofibrillar myopathy 9.8 LMNA LDB3 DMD
15 neuromuscular junction disease 9.8 KCNH1 DAG1
16 neuromuscular disease 9.7 LMNA LAMA2 DMD
17 hypertrophic pyloric stenosis 9.7 HMOX2 DMD
18 arrhythmogenic right ventricular cardiomyopathy 9.7 LMNA LDB3 DMD
19 pyloric stenosis 9.7 HMOX2 DMD
20 muscular dystrophy-dystroglycanopathy , type a, 1 9.6 POMGNT1 LAMA2 DMD DAG1
21 muscular dystrophy-dystroglycanopathy , type b, 6 9.6 POMGNT1 LAMA2 DMD DAG1
22 left ventricular noncompaction 9.6 TNNT2 LMNA LDB3 DMD
23 muscular dystrophy-dystroglycanopathy , type a, 4 9.6 POMGNT1 LAMA2 DMD DAG1
24 cardiomyopathy, dilated, 1b 9.6 LDB3 LAMA2 DMD DAG1
25 walker-warburg syndrome 9.6 POMGNT1 LAMA2 DMD DAG1
26 muscular dystrophy, congenital, 1b 9.5 LDB3 LAMA2 DMD DAG1
27 limb-girdle muscular dystrophy 9.5 POMGNT1 LMNA LAMA2 DMD
28 muscular dystrophy, congenital merosin-deficient, 1a 9.4 LMNA LAMA2 DMD DAG1
29 muscle tissue disease 9.4 LMNA LAMA2 DMD DAG1
30 muscular dystrophy-dystroglycanopathy , type b, 5 9.2 POMGNT1 LMNA LAMA2 DMD DAG1
31 muscular dystrophy 9.2 POMGNT1 LMNA LAMA2 DMD DAG1
32 muscular dystrophy, congenital, lmna-related 9.2 POMGNT1 LMNA LAMA2 DMD DAG1
33 cardiomyopathy, dilated, 1a 9.1 LMNA LDB3 LAMA2 DMD DAG1
34 progressive familial heart block, type ii 9.0 TNNT2 PPP2R5A LPGAT1 LAMB3 KCNH1 HMOX2
35 muscular disease 8.8 POMGNT1 LMNA LDB3 LAMA2 DMD DAG1
36 dilated cardiomyopathy 8.1 TNNT2 MMP9 LMNA LDB3 LAMA2 DMD

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



Diseases related to Cardiomyopathy, Dilated, 1d

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1d

Human phenotypes related to Cardiomyopathy, Dilated, 1d:

32
# Description HPO Frequency HPO Source Accession
1 left ventricular hypertrophy 32 occasional (7.5%) HP:0001712
2 atrial fibrillation 32 occasional (7.5%) HP:0005110
3 left ventricular noncompaction 32 occasional (7.5%) HP:0030682
4 congestive heart failure 32 HP:0001635
5 dilated cardiomyopathy 32 HP:0001644

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
congestive heart failure
sudden death
left ventricular hypertrophy (in some patients)
atrial fibrillation (in some patients)
left ventricular noncompaction (in some patients)
more

Clinical features from OMIM:

601494

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.11 DAG1 DMD HMOX2 KCNH1 LAMA2 LDB3
2 cardiovascular system MP:0005385 10.03 DAG1 DMD HMOX2 LDB3 LMNA MMP9
3 growth/size/body region MP:0005378 10.02 DAG1 DMD LAMA2 LAMB3 LDB3 LMNA
4 homeostasis/metabolism MP:0005376 10.02 DAG1 DMD HMOX2 LAMA2 LDB3 LMNA
5 mortality/aging MP:0010768 9.96 DAG1 DMD HMOX2 LAMA2 LAMB3 LDB3
6 digestive/alimentary MP:0005381 9.95 DMD HMOX2 LAMB3 LDB3 LMNA MMP9
7 muscle MP:0005369 9.81 DAG1 DMD HMOX2 LAMA2 LDB3 LMNA
8 nervous system MP:0003631 9.61 DAG1 DMD HMOX2 KCNH1 LAMA2 LMNA
9 respiratory system MP:0005388 9.1 DMD HMOX2 LAMB3 LDB3 LMNA MMP9

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1d

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

Genetic Tests for Cardiomyopathy, Dilated, 1d

Genetic tests related to Cardiomyopathy, Dilated, 1d:

# Genetic test Affiliating Genes
1 Left Ventricular Noncompaction 6 29 TNNT2

Anatomical Context for Cardiomyopathy, Dilated, 1d

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

41
Heart, Brain, Testes

Publications for Cardiomyopathy, Dilated, 1d

Articles related to Cardiomyopathy, Dilated, 1d:

(show all 20)
# Title Authors PMID Year
1
Severe familial left ventricular non-compaction cardiomyopathy due to a novel troponin T (TNNT2) mutation. 8 71
20083571 2010
2
Cardiac troponin T mutation in familial cardiomyopathy with variable remodeling and restrictive physiology. 8 71
18651846 2008
3
Mutations in sarcomere protein genes in left ventricular noncompaction. 8 71
18506004 2008
4
Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy. 8 71
15542288 2004
5
Novel cardiac troponin T mutation as a cause of familial dilated cardiomyopathy. 8 71
11684629 2001
6
Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. 8 71
11106718 2000
7
Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. 8 71
8205619 1994
8
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 71
27854360 2017
9
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 71
25356965 2015
10
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 71
23788249 2013
11
HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). 71
21810866 2011
12
Dilated Cardiomyopathy Overview 71
20301486 2007
13
Dilated cardiomyopathy mutations in three thin filament regulatory proteins result in a common functional phenotype. 71
15923195 2005
14
Genetic heterogeneity in familial dilated cardiomyopathy. 8
8825069 1995
15
Localization of a gene responsible for familial dilated cardiomyopathy to chromosome 1q32. 8
8521556 1995
16
Human cardiac troponin T: identification of fetal isoforms and assignment of the TNNT2 locus to chromosome 1q. 71
8088824 1994
17
Congenital Muscular Dystrophy 1D Causes Matrix Metalloproteinase Activation And Blood-Brain Barrier Impairment. 38
27915985 2017
18
Behavioral Responses in Animal Model of Congenital Muscular Dystrophy 1D. 38
25465243 2016
19
Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects. 38
19330236 2009
20
A gene locus for progressive familial heart block type II (PFHBII) maps to chromosome 1q32.2-q32.3. 38
16086176 2005

Variations for Cardiomyopathy, Dilated, 1d

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

6 (show top 50) (show all 148)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TNNT2 NM_000364.4(TNNT2): c.266T> A (p.Ile89Asn) single nucleotide variant Pathogenic rs121964855 1:201334766-201334766 1:201365638-201365638
2 TNNT2 NM_000364.4(TNNT2): c.358T> A (p.Phe120Ile) single nucleotide variant Pathogenic rs121964858 1:201334372-201334372 1:201365244-201365244
3 TNNT2 NM_000364.4(TNNT2): c.451C> T (p.Arg151Trp) single nucleotide variant Pathogenic rs74315379 1:201333464-201333464 1:201364336-201364336
4 TNNT2 NM_000364.4(TNNT2): c.635G> T (p.Arg212Leu) single nucleotide variant Pathogenic rs121964860 1:201331116-201331116 1:201361988-201361988
5 TNNT2 NM_000364.4(TNNT2): c.829G> A (p.Asp277Asn) single nucleotide variant Pathogenic rs121964861 1:201328764-201328764 1:201359636-201359636
6 TNNT2 NM_000364.4(TNNT2): c.304C> T (p.Arg102Trp) single nucleotide variant Pathogenic rs397516456 1:201334426-201334426 1:201365298-201365298
7 TNNT2 NM_000364.4(TNNT2): c.508_510GAG[3] (p.Glu173del) short repeat Pathogenic rs397516470 1:201332505-201332507 1:201363377-201363379
8 TNNT2 NM_000364.4(TNNT2): c.641_643AGA[3] (p.Lys217del) short repeat Pathogenic rs45578238 1:201331099-201331101 1:201361971-201361973
9 TNNT2 NM_000364.4(TNNT2): c.316G> A (p.Glu106Lys) single nucleotide variant Pathogenic rs869312881 1:201334414-201334414 1:201365286-201365286
10 TNNT2 NM_000364.4(TNNT2): c.547C> T (p.Arg183Trp) single nucleotide variant Pathogenic rs727503512 1:201332477-201332477 1:201363349-201363349
11 TNNT2 NM_000364.4(TNNT2): c.548G> A (p.Arg183Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397516471 1:201332476-201332476 1:201363348-201363348
12 TNNT2 NM_000364.4(TNNT2): c.881G> A (p.Trp294Ter) single nucleotide variant Pathogenic/Likely pathogenic rs727504247 1:201328345-201328345 1:201359217-201359217
13 TNNT2 NM_000364.4(TNNT2): c.566C> T (p.Ser189Phe) single nucleotide variant Pathogenic/Likely pathogenic rs727504246 1:201332458-201332458 1:201363330-201363330
14 TNNT2 NM_000364.4(TNNT2): c.882G> A (p.Trp294Ter) single nucleotide variant Pathogenic/Likely pathogenic rs730881116 1:201328344-201328344 1:201359216-201359216
15 TNNT2 NM_000364.4(TNNT2): c.311G> A (p.Arg104His) single nucleotide variant Pathogenic/Likely pathogenic rs397516457 1:201334419-201334419 1:201365291-201365291
16 TNNT2 NM_000364.4(TNNT2): c.418C> T (p.Arg140Cys) single nucleotide variant Pathogenic/Likely pathogenic rs397516463 1:201333497-201333497 1:201364369-201364369
17 TNNT2 NM_000364.4(TNNT2): c.421C> T (p.Arg141Trp) single nucleotide variant Pathogenic/Likely pathogenic rs74315380 1:201333494-201333494 1:201364366-201364366
18 TNNT2 NM_000364.4(TNNT2): c.305G> A (p.Arg102Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121964856 1:201334425-201334425 1:201365297-201365297
19 TNNT2 NM_000364.4(TNNT2): c.833A> T (p.Asn278Ile) single nucleotide variant Likely pathogenic rs863225119 1:201328760-201328760 1:201359632-201359632
20 TNNT2 NM_000364.4(TNNT2): c.517G> A (p.Glu173Lys) single nucleotide variant Likely pathogenic 1:201332507-201332507 1:201363379-201363379
21 TNNT2 NM_000364.4(TNNT2): c.200-11A> G single nucleotide variant Conflicting interpretations of pathogenicity rs368658464 1:201336010-201336010 1:201366882-201366882
22 TNNT2 NM_000364.4(TNNT2): c.452G> A (p.Arg151Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs730881101 1:201333463-201333463 1:201364335-201364335
23 TNNT2 NM_000364.4(TNNT2): c.766G> A (p.Asp256Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs141805127 1:201330442-201330442 1:201361314-201361314
24 TNNT2 NM_000364.4(TNNT2): c.683T> C (p.Ile228Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs45520032 1:201331068-201331068 1:201361940-201361940
25 TNNT2 NM_000364.4(TNNT2): c.544G> T (p.Ala182Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs730881097 1:201332480-201332480 1:201363352-201363352
26 TNNT2 NM_000364.4(TNNT2): c.634C> T (p.Arg212Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs45586240 1:201331117-201331117 1:201361989-201361989
27 TNNT2 NM_000364.4(TNNT2): c.854G> C (p.Arg285Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs397516484 1:201328372-201328372 1:201359244-201359244
28 TNNT2 NM_000364.4(TNNT2): c.341C> T (p.Ala114Val) single nucleotide variant Conflicting interpretations of pathogenicity rs727504245 1:201334389-201334389 1:201365261-201365261
29 TNNT2 NM_000364.4(TNNT2): c.755C> T (p.Ala252Val) single nucleotide variant Conflicting interpretations of pathogenicity rs369181536 1:201330453-201330453 1:201361325-201361325
30 TNNT2 NM_000364.4(TNNT2): c.635G> A (p.Arg212Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs121964860 1:201331116-201331116 1:201361988-201361988
31 TNNT2 NM_000364.4(TNNT2): c.52+7G> A single nucleotide variant Conflicting interpretations of pathogenicity rs374443596 1:201341266-201341266 1:201372138-201372138
32 TNNT2 NM_000364.4(TNNT2): c.711-4G> T single nucleotide variant Conflicting interpretations of pathogenicity rs201753429 1:201330501-201330501 1:201361373-201361373
33 TNNT2 NM_000364.4(TNNT2): c.711-6G> A single nucleotide variant Conflicting interpretations of pathogenicity rs113471285 1:201330503-201330503 1:201361375-201361375
34 TNNT2 NM_000364.4(TNNT2): c.753G> T (p.Glu251Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs45466197 1:201330455-201330455 1:201361327-201361327
35 TNNT2 NM_000364.4(TNNT2): c.460C> T (p.Arg154Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs483352832 1:201333455-201333455 1:201364327-201364327
36 TNNT2 NM_000364.4(TNNT2): c.794A> T (p.Lys265Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs397516482 1:201330414-201330414 1:201361286-201361286
37 TNNT2 NM_000364.3(TNNT2): c.113C> T (p.Ala38Val) single nucleotide variant Conflicting interpretations of pathogenicity rs200754249 1:201337340-201337340 1:201368212-201368212
38 TNNT2 NM_000364.4(TNNT2): c.853C> T (p.Arg285Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs121964857 1:201328373-201328373 1:201359245-201359245
39 TNNT2 NM_000364.4(TNNT2): c.601-10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs375547142 1:201331160-201331160 1:201362032-201362032
40 TNNT2 NM_000364.4(TNNT2): c.422G> C (p.Arg141Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs397516464 1:201333493-201333493 1:201364365-201364365
41 TNNT2 NM_000364.4(TNNT2): c.446G> A (p.Arg149His) single nucleotide variant Conflicting interpretations of pathogenicity rs397516466 1:201333469-201333469 1:201364341-201364341
42 TNNT2 NM_000364.4(TNNT2): c.506G> A (p.Arg169Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs45501500 1:201332518-201332518 1:201363390-201363390
43 TNNT2 NM_000364.4(TNNT2): c.311G> T (p.Arg104Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs397516457 1:201334419-201334419 1:201365291-201365291
44 TNNT2 NM_000364.4(TNNT2): c.321G> T (p.Lys107Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs397516459 1:201334409-201334409 1:201365281-201365281
45 TNNT2 NM_000364.4(TNNT2): c.412-6_412-4del deletion Conflicting interpretations of pathogenicity rs397516462 1:201333507-201333509 1:201364379-201364381
46 TNNT2 NM_000364.4(TNNT2): c.842+5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs193922620 1:201328746-201328746 1:201359618-201359618
47 TNNT2 NM_000364.4(TNNT2): c.268C> T (p.Pro90Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs397516451 1:201334764-201334764 1:201365636-201365636
48 TNNT2 NM_000364.4(TNNT2): c.270C> G (p.Pro90=) single nucleotide variant Conflicting interpretations of pathogenicity rs140245123 1:201334762-201334762 1:201365634-201365634
49 TNNT2 NM_000364.4(TNNT2): c.287A> C (p.Asp96Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs397516455 1:201334745-201334745 1:201365617-201365617
50 TNNT2 NM_000364.4(TNNT2): c.281dup (p.Val95fs) duplication Conflicting interpretations of pathogenicity rs780087395 1:201334751-201334751 1:201365623-201365623

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

74
# Symbol AA change Variation ID SNP ID
1 TNNT2 p.Arg151Trp VAR_016198 rs74315379
2 TNNT2 p.Arg141Trp VAR_043983 rs74315380
3 TNNT2 p.Arg215Leu VAR_043984 rs121964860

Expression for Cardiomyopathy, Dilated, 1d

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

Pathways for Cardiomyopathy, Dilated, 1d

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.21 MMP9 LAMB3 LAMA2 DMD DAG1
2
Show member pathways
11.74 LMNA LAMA2 DMD DAG1
3
Show member pathways
11.69 LAMB3 LAMA2 DAG1
4
Show member pathways
11.29 TNNT2 LMNA LAMA2 DMD DAG1
5 10.41 LAMA2 DMD DAG1

GO Terms for Cardiomyopathy, Dilated, 1d

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

# Name GO ID Score Top Affiliating Genes
1 postsynaptic membrane GO:0045211 9.54 KCNH1 DMD DAG1
2 Z disc GO:0030018 9.33 PPP2R5A LDB3 DMD
3 dystrophin-associated glycoprotein complex GO:0016010 9.32 DMD DAG1
4 costamere GO:0043034 9.26 DMD DAG1
5 sarcolemma GO:0042383 9.13 LAMA2 DMD DAG1
6 basement membrane GO:0005604 8.8 LAMB3 LAMA2 DAG1

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

# Name GO ID Score Top Affiliating Genes
1 cardiac muscle contraction GO:0060048 9.43 TNNT2 DMD
2 sarcomere organization GO:0045214 9.4 TNNT2 LDB3
3 muscle filament sliding GO:0030049 9.37 TNNT2 DMD
4 endodermal cell differentiation GO:0035987 9.32 MMP9 LAMB3
5 skeletal muscle tissue regeneration GO:0043403 9.26 DMD DAG1
6 response to denervation involved in regulation of muscle adaptation GO:0014894 9.16 DMD DAG1
7 Schwann cell differentiation GO:0014037 8.96 LAMA2 DAG1
8 extracellular matrix organization GO:0030198 8.92 MMP9 LAMB3 LAMA2 DAG1

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

# Name GO ID Score Top Affiliating Genes
1 structural constituent of muscle GO:0008307 9.26 DMD DAG1
2 structural molecule activity GO:0005198 9.16 LAMB3 LAMA2
3 vinculin binding GO:0017166 8.96 DMD DAG1
4 dystroglycan binding GO:0002162 8.62 DMD DAG1

Sources for Cardiomyopathy, Dilated, 1d

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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