CMD1D
MCID: CRD097
MIFTS: 43

Cardiomyopathy, Dilated, 1d (CMD1D)

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1d

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1d:

Name: Cardiomyopathy, Dilated, 1d 58 13 74
Left Ventricular Noncompaction 6 58 30 6
Cmd1d 58 12 76
Dilated Cardiomyopathy 1d 12 15
Left Ventricular Noncompaction 6, Included; Lvnc6, Included 58
Left Ventricular Noncompaction 6, Included 58
Cardiomyopathy, Dilated 1d 76
Lvnc6, Included 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
cardiomyopathy, dilated, 1d:
Clinical modifier sudden death
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110426
OMIM 58 601494
MeSH 45 D002311
ICD10 34 I42.0
MedGen 43 C1832243
UMLS 74 C1832243

Summaries for Cardiomyopathy, Dilated, 1d

UniProtKB/Swiss-Prot : 76 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, right 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, 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.

Description from OMIM: 601494

Related Diseases for Cardiomyopathy, Dilated, 1d

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
Cardiomyopathy, Dilated, 2c Autoimmune Cardiomyopathy
Dilated Cardiomyopathy 1t Lmna-Related 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 10.3 DAG1 POMGNT1
2 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.2 LDB3 LMNA
3 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.1 LDB3 LMNA
4 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.1 LDB3 LMNA
5 isolated hyperckemia 10.1 DMD LAMA2
6 creatine phosphokinase, elevated serum 10.1 DMD LAMA2
7 myopathy, myofibrillar, 2 10.1 DMD LDB3
8 myopathy, x-linked, with excessive autophagy 10.0 DMD LAMA2
9 familial isolated dilated cardiomyopathy 10.0 DMD LDB3 TNNT2
10 hypertrophic cardiomyopathy 9.9 LDB3 LMNA TNNT2
11 intrinsic cardiomyopathy 9.9 DMD LMNA TNNT2
12 atrial standstill 1 9.9 DMD LMNA TNNT2
13 muscular dystrophy, becker type 9.9 DMD LAMA2
14 myofibrillar myopathy 9.9 DMD LDB3 LMNA
15 neuromuscular junction disease 9.9 DAG1 KCNH1
16 neuromuscular disease 9.8 DMD LAMA2 LMNA
17 hypertrophic pyloric stenosis 9.8 DMD HMOX2
18 arrhythmogenic right ventricular cardiomyopathy 9.8 DMD LDB3 LMNA
19 pyloric stenosis 9.8 DMD HMOX2
20 muscular dystrophy-dystroglycanopathy , type a, 1 9.7 DAG1 DMD LAMA2 POMGNT1
21 muscular dystrophy-dystroglycanopathy , type a, 4 9.7 DAG1 DMD LAMA2 POMGNT1
22 left ventricular noncompaction 9.7 DMD LDB3 LMNA TNNT2
23 muscular dystrophy-dystroglycanopathy , type b, 6 9.7 DAG1 DMD LAMA2 POMGNT1
24 cardiomyopathy, dilated, 1b 9.7 DAG1 DMD LAMA2 LDB3
25 walker-warburg syndrome 9.7 DAG1 DMD LAMA2 POMGNT1
26 muscular dystrophy, congenital, 1b 9.7 DAG1 DMD LAMA2 LDB3
27 limb-girdle muscular dystrophy 9.7 DMD LAMA2 LMNA POMGNT1
28 muscular dystrophy, congenital merosin-deficient, 1a 9.7 DAG1 DMD LAMA2 LMNA
29 muscle tissue disease 9.6 DAG1 DMD LAMA2 LMNA
30 muscular dystrophy-dystroglycanopathy , type b, 5 9.5 DAG1 DMD LAMA2 LMNA POMGNT1
31 muscular dystrophy 9.5 DAG1 DMD LAMA2 LMNA POMGNT1
32 muscular dystrophy, congenital, lmna-related 9.5 DAG1 DMD LAMA2 LMNA POMGNT1
33 cardiomyopathy, dilated, 1a 9.5 DAG1 DMD LAMA2 LDB3 LMNA
34 progressive familial heart block, type ii 9.4 HMOX2 KCNH1 LAMB3 LPGAT1 PPP2R5A TNNT2
35 muscular disease 9.3 DAG1 DMD LAMA2 LDB3 LMNA POMGNT1
36 dilated cardiomyopathy 8.8 DAG1 DMD LAMA2 LDB3 LMNA MMP9

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:

33
# Description HPO Frequency HPO Source Accession
1 left ventricular hypertrophy 33 occasional (7.5%) HP:0001712
2 atrial fibrillation 33 occasional (7.5%) HP:0005110
3 left ventricular noncompaction 33 occasional (7.5%) HP:0030682
4 congestive heart failure 33 HP:0001635
5 dilated cardiomyopathy 33 HP:0001644

Symptoms via clinical synopsis from OMIM:

58
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

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

27 (show all 23)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.74 PPP2R5A
2 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.74 PPP2R5A
3 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.74 LAMB3
4 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.74 LAMB3
5 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.74 PPP2R5A
6 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.74 LAMB3
7 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.74 HMOX2 LAMB3 PPP2R5A
8 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.74 HMOX2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-197 9.74 LAMB3
10 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.74 HMOX2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.74 LAMB3
12 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.74 HMOX2 PPP2R5A
13 Increased shRNA abundance (Z-score > 2) GR00366-A-35 9.74 PPP2R5A
14 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.74 LAMB3
15 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.74 PPP2R5A
16 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.74 PPP2R5A
17 Increased shRNA abundance (Z-score > 2) GR00366-A-69 9.74 LAMB3
18 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.74 LAMB3
19 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.74 PPP2R5A
20 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.74 LAMB3
21 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.74 PPP2R5A
22 Increased shRNA abundance (Z-score > 2) GR00366-A-90 9.74 HMOX2
23 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.74 LAMB3

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

47
# 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 30 TNNT2

Anatomical Context for Cardiomyopathy, Dilated, 1d

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

42
Heart

Publications for Cardiomyopathy, Dilated, 1d

Articles related to Cardiomyopathy, Dilated, 1d:

(show all 12)
# Title Authors Year
1
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. ( 27854360 )
2017
2
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. ( 25356965 )
2015
3
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. ( 23788249 )
2013
4
Severe familial left ventricular non-compaction cardiomyopathy due to a novel troponin T (TNNT2) mutation. ( 20083571 )
2010
5
Mutations in sarcomere protein genes in left ventricular noncompaction. ( 18506004 )
2008
6
Cardiac troponin T mutation in familial cardiomyopathy with variable remodeling and restrictive physiology. ( 18651846 )
2008
7
Dilated cardiomyopathy mutations in three thin filament regulatory proteins result in a common functional phenotype. ( 15923195 )
2005
8
Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy. ( 15542288 )
2004
9
Novel cardiac troponin T mutation as a cause of familial dilated cardiomyopathy. ( 11684629 )
2001
10
Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. ( 11106718 )
2000
11
Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. ( 8205619 )
1994
12
Human cardiac troponin T: identification of fetal isoforms and assignment of the TNNT2 locus to chromosome 1q. ( 8088824 )
1994

Variations for Cardiomyopathy, Dilated, 1d

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

76
# 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

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

6 (show top 50) (show all 258)
# Gene Variation Type Significance SNP ID Assembly Location
1 TNNT2 NM_001001430.2(TNNT2): c.236T> A (p.Ile79Asn) single nucleotide variant Pathogenic rs121964855 GRCh37 Chromosome 1, 201334766: 201334766
2 TNNT2 NM_001001430.2(TNNT2): c.236T> A (p.Ile79Asn) single nucleotide variant Pathogenic rs121964855 GRCh38 Chromosome 1, 201365638: 201365638
3 TNNT2 NM_001001430.2(TNNT2): c.275G> A (p.Arg92Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121964856 GRCh37 Chromosome 1, 201334425: 201334425
4 TNNT2 NM_001001430.2(TNNT2): c.275G> A (p.Arg92Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121964856 GRCh38 Chromosome 1, 201365297: 201365297
5 TNNT2 NM_000364.3(TNNT2): c.853C> T (p.Arg285Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs121964857 GRCh37 Chromosome 1, 201328373: 201328373
6 TNNT2 NM_000364.3(TNNT2): c.853C> T (p.Arg285Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs121964857 GRCh38 Chromosome 1, 201359245: 201359245
7 TNNT2 NM_001001430.2(TNNT2): c.328T> A (p.Phe110Ile) single nucleotide variant Pathogenic rs121964858 GRCh37 Chromosome 1, 201334372: 201334372
8 TNNT2 NM_001001430.2(TNNT2): c.328T> A (p.Phe110Ile) single nucleotide variant Pathogenic rs121964858 GRCh38 Chromosome 1, 201365244: 201365244
9 TNNT2 NM_001001430.2(TNNT2): c.421C> T (p.Arg141Trp) single nucleotide variant Pathogenic rs74315379 GRCh37 Chromosome 1, 201333464: 201333464
10 TNNT2 NM_001001430.2(TNNT2): c.421C> T (p.Arg141Trp) single nucleotide variant Pathogenic rs74315379 GRCh38 Chromosome 1, 201364336: 201364336
11 TNNT2 NM_001001430.2(TNNT2): c.391C> T (p.Arg131Trp) single nucleotide variant Pathogenic/Likely pathogenic rs74315380 GRCh37 Chromosome 1, 201333494: 201333494
12 TNNT2 NM_001001430.2(TNNT2): c.391C> T (p.Arg131Trp) single nucleotide variant Pathogenic/Likely pathogenic rs74315380 GRCh38 Chromosome 1, 201364366: 201364366
13 TNNT2 NM_000364.3(TNNT2): c.635G> T (p.Arg212Leu) single nucleotide variant Pathogenic rs121964860 GRCh37 Chromosome 1, 201331116: 201331116
14 TNNT2 NM_000364.3(TNNT2): c.635G> T (p.Arg212Leu) single nucleotide variant Pathogenic rs121964860 GRCh38 Chromosome 1, 201361988: 201361988
15 TNNT2 NM_000364.3(TNNT2): c.829G> A (p.Asp277Asn) single nucleotide variant Pathogenic rs121964861 GRCh37 Chromosome 1, 201328764: 201328764
16 TNNT2 NM_000364.3(TNNT2): c.829G> A (p.Asp277Asn) single nucleotide variant Pathogenic rs121964861 GRCh38 Chromosome 1, 201359636: 201359636
17 TNNT2 NM_000364.3(TNNT2): c.294+7G> A single nucleotide variant Benign/Likely benign rs45490292 GRCh37 Chromosome 1, 201334731: 201334731
18 TNNT2 NM_000364.3(TNNT2): c.294+7G> A single nucleotide variant Benign/Likely benign rs45490292 GRCh38 Chromosome 1, 201365603: 201365603
19 TNNT2 NM_001001430.2(TNNT2): c.68-1626A> G single nucleotide variant Benign rs115805892 GRCh37 Chromosome 1, 201338981: 201338981
20 TNNT2 NM_001001430.2(TNNT2): c.68-1626A> G single nucleotide variant Benign rs115805892 GRCh38 Chromosome 1, 201369853: 201369853
21 TNNT2 NM_001001430.2(TNNT2): c.218A> G (p.Asn73Ser) single nucleotide variant Uncertain significance rs397516450 GRCh37 Chromosome 1, 201334784: 201334784
22 TNNT2 NM_001001430.2(TNNT2): c.218A> G (p.Asn73Ser) single nucleotide variant Uncertain significance rs397516450 GRCh38 Chromosome 1, 201365656: 201365656
23 TNNT2 NM_000364.3(TNNT2): c.260C> T (p.Pro87Leu) single nucleotide variant Uncertain significance rs144900708 GRCh37 Chromosome 1, 201334772: 201334772
24 TNNT2 NM_000364.3(TNNT2): c.260C> T (p.Pro87Leu) single nucleotide variant Uncertain significance rs144900708 GRCh38 Chromosome 1, 201365644: 201365644
25 TNNT2 NM_001001430.2(TNNT2): c.238C> T (p.Pro80Ser) single nucleotide variant Uncertain significance rs397516451 GRCh37 Chromosome 1, 201334764: 201334764
26 TNNT2 NM_001001430.2(TNNT2): c.238C> T (p.Pro80Ser) single nucleotide variant Uncertain significance rs397516451 GRCh38 Chromosome 1, 201365636: 201365636
27 TNNT2 NM_001001430.2(TNNT2): c.240C> G (p.Pro80=) single nucleotide variant Conflicting interpretations of pathogenicity rs140245123 GRCh37 Chromosome 1, 201334762: 201334762
28 TNNT2 NM_001001430.2(TNNT2): c.240C> G (p.Pro80=) single nucleotide variant Conflicting interpretations of pathogenicity rs140245123 GRCh38 Chromosome 1, 201365634: 201365634
29 TNNT2 NM_001001430.2(TNNT2): c.240C> T (p.Pro80=) single nucleotide variant Likely benign rs140245123 GRCh37 Chromosome 1, 201334762: 201334762
30 TNNT2 NM_001001430.2(TNNT2): c.240C> T (p.Pro80=) single nucleotide variant Likely benign rs140245123 GRCh38 Chromosome 1, 201365634: 201365634
31 TNNT2 NM_001001430.2(TNNT2): c.257A> C (p.Asp86Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs397516455 GRCh37 Chromosome 1, 201334745: 201334745
32 TNNT2 NM_001001430.2(TNNT2): c.257A> C (p.Asp86Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs397516455 GRCh38 Chromosome 1, 201365617: 201365617
33 TNNT2 NM_000364.3(TNNT2): c.304C> T (p.Arg102Trp) single nucleotide variant Pathogenic rs397516456 GRCh37 Chromosome 1, 201334426: 201334426
34 TNNT2 NM_000364.3(TNNT2): c.304C> T (p.Arg102Trp) single nucleotide variant Pathogenic rs397516456 GRCh38 Chromosome 1, 201365298: 201365298
35 TNNT2 NM_001001430.2(TNNT2): c.281G> T (p.Arg94Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs397516457 GRCh37 Chromosome 1, 201334419: 201334419
36 TNNT2 NM_001001430.2(TNNT2): c.281G> T (p.Arg94Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs397516457 GRCh38 Chromosome 1, 201365291: 201365291
37 TNNT2 NM_001001430.2(TNNT2): c.382-6_382-4delCCT deletion Conflicting interpretations of pathogenicity rs397516462 GRCh37 Chromosome 1, 201333507: 201333509
38 TNNT2 NM_001001430.2(TNNT2): c.382-6_382-4delCCT deletion Conflicting interpretations of pathogenicity rs397516462 GRCh38 Chromosome 1, 201364379: 201364381
39 TNNT2 NM_001001430.2(TNNT2): c.388C> T (p.Arg130Cys) single nucleotide variant Pathogenic/Likely pathogenic rs397516463 GRCh37 Chromosome 1, 201333497: 201333497
40 TNNT2 NM_001001430.2(TNNT2): c.388C> T (p.Arg130Cys) single nucleotide variant Pathogenic/Likely pathogenic rs397516463 GRCh38 Chromosome 1, 201364369: 201364369
41 TNNT2 NM_001001430.2(TNNT2): c.392G> C (p.Arg131Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs397516464 GRCh37 Chromosome 1, 201333493: 201333493
42 TNNT2 NM_001001430.2(TNNT2): c.392G> C (p.Arg131Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs397516464 GRCh38 Chromosome 1, 201364365: 201364365
43 TNNT2 NM_001001430.2(TNNT2): c.444G> C (p.Arg148=) single nucleotide variant Benign/Likely benign rs35914325 GRCh37 Chromosome 1, 201333441: 201333441
44 TNNT2 NM_001001430.2(TNNT2): c.444G> C (p.Arg148=) single nucleotide variant Benign/Likely benign rs35914325 GRCh38 Chromosome 1, 201364313: 201364313
45 TNNT2 NM_001001430.2(TNNT2): c.416G> A (p.Arg139His) single nucleotide variant Conflicting interpretations of pathogenicity rs397516466 GRCh37 Chromosome 1, 201333469: 201333469
46 TNNT2 NM_001001430.2(TNNT2): c.416G> A (p.Arg139His) single nucleotide variant Conflicting interpretations of pathogenicity rs397516466 GRCh38 Chromosome 1, 201364341: 201364341
47 TNNT2 NM_001001430.2(TNNT2): c.476G> A (p.Arg159Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs45501500 GRCh37 Chromosome 1, 201332518: 201332518
48 TNNT2 NM_001001430.2(TNNT2): c.476G> A (p.Arg159Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs45501500 GRCh38 Chromosome 1, 201363390: 201363390
49 TNNT2 NM_001001430.2(TNNT2): c.487_489delGAG (p.Glu163del) deletion Pathogenic rs397516470 GRCh37 Chromosome 1, 201332505: 201332507
50 TNNT2 NM_001001430.2(TNNT2): c.487_489delGAG (p.Glu163del) deletion Pathogenic rs397516470 GRCh38 Chromosome 1, 201363377: 201363379

Expression for Cardiomyopathy, Dilated, 1d

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

Pathways for Cardiomyopathy, Dilated, 1d

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 DAG1 DMD KCNH1
2 Z disc GO:0030018 9.33 DMD LDB3 PPP2R5A
3 costamere GO:0043034 9.32 DAG1 DMD
4 dystrophin-associated glycoprotein complex GO:0016010 9.26 DAG1 DMD
5 sarcolemma GO:0042383 9.13 DAG1 DMD LAMA2
6 basement membrane GO:0005604 8.8 DAG1 LAMA2 LAMB3

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

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 DAG1 DMD
2 structural molecule activity GO:0005198 9.16 LAMA2 LAMB3
3 vinculin binding GO:0017166 8.96 DAG1 DMD
4 dystroglycan binding GO:0002162 8.62 DAG1 DMD

Sources for Cardiomyopathy, Dilated, 1d

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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