CMD1D
MCID: CRD097
MIFTS: 45

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 56 13 71
Left Ventricular Noncompaction 6 56 29 6
Cmd1d 56 12 73
Dilated Cardiomyopathy 1d 12 15
Left Ventricular Noncompaction 6, Included; Lvnc6, Included 56
Left Ventricular Noncompaction 6, Included 56
Cardiomyopathy, Dilated 1d 73
Lvnc6, Included 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
cardiomyopathy, dilated, 1d:
Clinical modifier sudden death
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110426
OMIM 56 601494
OMIM Phenotypic Series 56 PS115200 PS604169
MeSH 43 D002311
ICD10 32 I42.0
MedGen 41 C1832243
UMLS 71 C1832243

Summaries for Cardiomyopathy, Dilated, 1d

UniProtKB/Swiss-Prot : 73 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 congenital muscular dystrophy-dystroglycanopathy type a3 and progressive familial heart block, type ii. An important gene associated with Cardiomyopathy, Dilated, 1d is TNNT2 (Troponin T2, Cardiac Type), and among its related pathways/superpathways are Dilated cardiomyopathy (DCM) and O-linked glycosylation. 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
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 top 50) (show all 67)
# Related Disease Score Top Affiliating Genes
1 congenital muscular dystrophy-dystroglycanopathy type a3 10.2 POMT2 POMGNT1
2 progressive familial heart block, type ii 10.1 TNNT2 LPGAT1
3 progressive familial heart block 10.1 TNNT2 LPGAT1
4 congenital muscular dystrophy-dystroglycanopathy type a2 10.1 POMT2 POMT1
5 gas gangrene 10.1 TNNT2 DAG1
6 congenital muscular dystrophy-dystroglycanopathy a14 10.1 LAMA2 DAG1
7 congenital muscular dystrophy-dystroglycanopathy type a5 10.1 FKRP DAG1
8 congenital muscular dystrophy without intellectual disability 10.0 POMT1 FKRP
9 autosomal recessive limb-girdle muscular dystrophy type 2f 10.0 FKRP DAG1
10 autosomal recessive limb-girdle muscular dystrophy type 2j 10.0 POMT1 FKRP
11 muscular dystrophy, congenital, due to integrin alpha-7 deficiency 10.0 LAMA2 DAG1
12 autosomal recessive limb-girdle muscular dystrophy type 2g 10.0 POMT1 FKRP
13 retinal lattice degeneration 9.9 POMT2 POMT1 DAG1
14 periventricular nodular heterotopia 9.9 POMT2 POMT1 POMGNT1
15 myotonic disease 9.8 TNNT2 LDB3
16 ablepharon-macrostomia syndrome 9.8 POMT1 POMGNT1 FKRP
17 congenital muscular dystrophy with intellectual disability 9.8 POMT2 POMT1 FKRP
18 muscular dystrophy, duchenne type 9.8 TNNT2 LAMA2 DAG1
19 autosomal recessive limb-girdle muscular dystrophy type 2c 9.7 LAMA2 FKRP DAG1
20 autosomal recessive limb-girdle muscular dystrophy type 2a 9.7 LAMA2 FKRP DAG1
21 autosomal recessive limb-girdle muscular dystrophy type 2b 9.7 LAMA2 FKRP DAG1
22 muscular dystrophy, becker type 9.7 LAMA2 FKRP DAG1
23 myotonic dystrophy 1 9.7 TNNT2 LDB3
24 hydrophthalmos 9.7 POMT2 POMT1 POMGNT1 DAG1
25 myopathy, myofibrillar, 3 9.7 LDB3 FKRP
26 ullrich congenital muscular dystrophy 1 9.7 LAMA2 FKRP DAG1
27 congenital disorder of glycosylation, type in 9.7 POMT2 POMT1 POMGNT1 DAG1
28 peters-plus syndrome 9.7 POMT2 POMT1 POMGNT1 DAG1
29 congenital muscular dystrophy with cerebellar involvement 9.6 POMT2 POMT1 POMGNT1 FKRP
30 familial isolated dilated cardiomyopathy 9.6 TNNT2 LDB3
31 muscular dystrophy, limb-girdle, autosomal recessive 2 9.5 POMT2 POMT1 FKRP DAG1
32 muscular dystrophy, congenital, 1b 9.5 POMGNT1 LAMA2 FKRP DAG1
33 limb-girdle muscular dystrophy 9.5 POMT1 POMGNT1 LAMA2 FKRP
34 rigid spine muscular dystrophy 1 9.5 POMGNT1 LAMA2 FKRP DAG1
35 autosomal recessive limb-girdle muscular dystrophy 9.5 POMT1 LAMA2 FKRP DAG1
36 autosomal recessive limb-girdle muscular dystrophy type 2d 9.4 POMT1 LAMA2 FKRP DAG1
37 isolated elevated serum creatine phosphokinase levels 9.4 POMT1 LAMA2 FKRP DAG1
38 arrhythmogenic right ventricular cardiomyopathy 9.4 LDB3 LAMA2 DAG1
39 congenital muscular dystrophy-dystroglycanopathy type a1 9.3 POMT2 POMT1 POMGNT1 FKRP DAG1
40 muscular dystrophy-dystroglycanopathy , type c, 2 9.3 POMT2 POMT1 POMGNT1 FKRP DAG1
41 muscular dystrophy-dystroglycanopathy , type c, 3 9.3 POMT2 POMT1 POMGNT1 FKRP DAG1
42 muscular dystrophy-dystroglycanopathy , type c, 1 9.3 POMT2 POMT1 POMGNT1 FKRP DAG1
43 muscular dystrophy-dystroglycanopathy , type b, 6 9.3 POMT2 POMT1 POMGNT1 FKRP DAG1
44 cobblestone lissencephaly 9.3 POMT2 POMT1 POMGNT1 FKRP DAG1
45 lissencephaly 9.3 POMT2 POMT1 POMGNT1 FKRP DAG1
46 muscular dystrophy-dystroglycanopathy , type c, 4 9.3 POMT2 POMT1 POMGNT1 FKRP DAG1
47 muscle eye brain disease 9.3 POMT2 POMT1 POMGNT1 FKRP DAG1
48 glaucoma 3, primary congenital, a 9.3 POMT2 POMT1 POMGNT1 FKRP DAG1
49 congenital nervous system abnormality 9.3 POMT2 POMT1 POMGNT1 FKRP DAG1
50 hypertrophic cardiomyopathy 9.3 TNNT2 LDB3 LAMA2 DAG1

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:

31
# Description HPO Frequency HPO Source Accession
1 left ventricular hypertrophy 31 occasional (7.5%) HP:0001712
2 atrial fibrillation 31 occasional (7.5%) HP:0005110
3 left ventricular noncompaction 31 occasional (7.5%) HP:0030682
4 congestive heart failure 31 HP:0001635
5 dilated cardiomyopathy 31 HP:0001644

Symptoms via clinical synopsis from OMIM:

56
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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.86 DAG1 FKRP LAMA2 LDB3 LPGAT1 POMGNT1
2 mortality/aging MP:0010768 9.81 DAG1 FKRP LAMA2 LDB3 LPGAT1 POMGNT1
3 muscle MP:0005369 9.5 DAG1 FKRP LAMA2 LDB3 POMGNT1 POMT1
4 nervous system MP:0003631 9.17 DAG1 FKRP LAMA2 POMGNT1 POMT1 POMT2

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:

40
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. 6 56
20083571 2010
2
Cardiac troponin T mutation in familial cardiomyopathy with variable remodeling and restrictive physiology. 56 6
18651846 2008
3
Mutations in sarcomere protein genes in left ventricular noncompaction. 6 56
18506004 2008
4
Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy. 6 56
15542288 2004
5
Novel cardiac troponin T mutation as a cause of familial dilated cardiomyopathy. 56 6
11684629 2001
6
Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. 6 56
11106718 2000
7
Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. 6 56
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. 6
27854360 2017
9
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 6
25356965 2015
10
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 6
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). 6
21810866 2011
12
Dilated Cardiomyopathy Overview 6
20301486 2007
13
Dilated cardiomyopathy mutations in three thin filament regulatory proteins result in a common functional phenotype. 6
15923195 2005
14
Localization of a gene responsible for familial dilated cardiomyopathy to chromosome 1q32. 56
8521556 1995
15
Genetic heterogeneity in familial dilated cardiomyopathy. 56
8825069 1995
16
Human cardiac troponin T: identification of fetal isoforms and assignment of the TNNT2 locus to chromosome 1q. 6
8088824 1994
17
Congenital Muscular Dystrophy 1D Causes Matrix Metalloproteinase Activation And Blood-Brain Barrier Impairment. 61
27915985 2017
18
Behavioral Responses in Animal Model of Congenital Muscular Dystrophy 1D. 61
25465243 2016
19
Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects. 61
19330236 2009
20
A gene locus for progressive familial heart block type II (PFHBII) maps to chromosome 1q32.2-q32.3. 61
16086176 2005

Variations for Cardiomyopathy, Dilated, 1d

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

6 (show top 50) (show all 181) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TNNT2 NM_001276345.2(TNNT2):c.548G>T (p.Arg183Leu)SNV Pathogenic 691967 1:201332476-201332476 1:201363348-201363348
2 TNNT2 NM_001276345.2(TNNT2):c.266T>A (p.Ile89Asn)SNV Pathogenic 12408 rs121964855 1:201334766-201334766 1:201365638-201365638
3 TNNT2 NM_001276345.2(TNNT2):c.358T>A (p.Phe120Ile)SNV Pathogenic 12412 rs121964858 1:201334372-201334372 1:201365244-201365244
4 TNNT2 NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp)SNV Pathogenic 12414 rs74315379 1:201333464-201333464 1:201364336-201364336
5 TNNT2 NM_001276345.2(TNNT2):c.644G>T (p.Arg215Leu)SNV Pathogenic 12416 rs121964860 1:201331116-201331116 1:201361988-201361988
6 TNNT2 NM_001276345.2(TNNT2):c.838G>A (p.Asp280Asn)SNV Pathogenic 12417 rs121964861 1:201328764-201328764 1:201359636-201359636
7 TNNT2 NM_001276345.2(TNNT2):c.304C>T (p.Arg102Trp)SNV Pathogenic 43627 rs397516456 1:201334426-201334426 1:201365298-201365298
8 TNNT2 NM_001276345.2(TNNT2):c.311G>A (p.Arg104His)SNV Pathogenic 43628 rs397516457 1:201334419-201334419 1:201365291-201365291
9 TNNT2 NM_001276345.2(TNNT2):c.422G>A (p.Arg141Gln)SNV Pathogenic 43637 rs397516464 1:201333493-201333493 1:201364365-201364365
10 TNNT2 NM_001276345.2(TNNT2):c.508_510GAG[3] (p.Glu173del)short repeat Pathogenic 43648 rs397516470 1:201332505-201332507 1:201363377-201363379
11 TNNT2 NM_001276345.2(TNNT2):c.316G>A (p.Glu106Lys)SNV Pathogenic 224775 rs869312881 1:201334414-201334414 1:201365286-201365286
12 TNNT2 NM_001276345.2(TNNT2):c.547C>T (p.Arg183Trp)SNV Pathogenic 228409 rs727503512 1:201332477-201332477 1:201363349-201363349
13 TNNT2 NM_001276345.2(TNNT2):c.891G>A (p.Trp297Ter)SNV Pathogenic/Likely pathogenic 181636 rs730881116 1:201328344-201328344 1:201359216-201359216
14 TNNT2 NM_001276345.2(TNNT2):c.548G>A (p.Arg183Gln)SNV Pathogenic/Likely pathogenic 43649 rs397516471 1:201332476-201332476 1:201363348-201363348
15 TNNT2 NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys)SNV Pathogenic/Likely pathogenic 43636 rs397516463 1:201333497-201333497 1:201364369-201364369
16 TNNT2 NM_001276345.2(TNNT2):c.650_652AGA[3] (p.Lys220del)short repeat Pathogenic/Likely pathogenic 43659 rs45578238 1:201331099-201331101 1:201361971-201361973
17 TNNT2 NM_001276345.2(TNNT2):c.890G>A (p.Trp297Ter)SNV Pathogenic/Likely pathogenic 177636 rs727504247 1:201328345-201328345 1:201359217-201359217
18 TNNT2 NM_001276345.2(TNNT2):c.566C>T (p.Ser189Phe)SNV Pathogenic/Likely pathogenic 177634 rs727504246 1:201332458-201332458 1:201363330-201363330
19 TNNT2 NM_001276345.2(TNNT2):c.310C>T (p.Arg104Cys)SNV Pathogenic/Likely pathogenic 165549 rs727503513 1:201334420-201334420 1:201365292-201365292
20 TNNT2 NM_001276345.2(TNNT2):c.311G>T (p.Arg104Leu)SNV Pathogenic/Likely pathogenic 43629 rs397516457 1:201334419-201334419 1:201365291-201365291
21 TNNT2 NM_001276345.2(TNNT2):c.421C>T (p.Arg141Trp)SNV Pathogenic/Likely pathogenic 12415 rs74315380 1:201333494-201333494 1:201364366-201364366
22 TNNT2 NM_001276345.2(TNNT2):c.305G>A (p.Arg102Gln)SNV Pathogenic/Likely pathogenic 12409 rs121964856 1:201334425-201334425 1:201365297-201365297
23 TNNT2 NM_001276345.2(TNNT2):c.287A>C (p.Asp96Ala)SNV Likely pathogenic 43626 rs397516455 1:201334745-201334745 1:201365617-201365617
24 TNNT2 NM_001276345.2(TNNT2):c.517G>A (p.Glu173Lys)SNV Likely pathogenic 567696 rs1558225569 1:201332507-201332507 1:201363379-201363379
25 TNNT2 NM_001276345.2(TNNT2):c.842A>T (p.Asn281Ile)SNV Likely pathogenic 217495 rs863225119 1:201328760-201328760 1:201359632-201359632
26 TNNT2 NM_001276345.2(TNNT2):c.200-11A>GSNV Conflicting interpretations of pathogenicity 188682 rs368658464 1:201336010-201336010 1:201366882-201366882
27 TNNT2 NM_001276345.2(TNNT2):c.644G>C (p.Arg215Pro)SNV Conflicting interpretations of pathogenicity 229338 rs121964860 1:201331116-201331116 1:201361988-201361988
28 TNNT2 NM_001276345.2(TNNT2):c.692T>C (p.Ile231Thr)SNV Conflicting interpretations of pathogenicity 181604 rs45520032 1:201331068-201331068 1:201361940-201361940
29 TNNT2 NM_001276345.2(TNNT2):c.452G>A (p.Arg151Gln)SNV Conflicting interpretations of pathogenicity 181617 rs730881101 1:201333463-201333463 1:201364335-201364335
30 TNNT2 NM_001276345.2(TNNT2):c.451del (p.Arg151fs)deletion Conflicting interpretations of pathogenicity 181635 rs730881115 1:201333464-201333464 1:201364336-201364336
31 TNNT2 NM_001276345.2(TNNT2):c.810+5G>ASNV Conflicting interpretations of pathogenicity 181633 rs730881113 1:201330402-201330402 1:201361274-201361274
32 TNNT2 NM_001276345.2(TNNT2):c.775G>A (p.Asp259Asn)SNV Conflicting interpretations of pathogenicity 181630 rs141805127 1:201330442-201330442 1:201361314-201361314
33 TNNT2 NM_001276345.2(TNNT2):c.544G>T (p.Ala182Ser)SNV Conflicting interpretations of pathogenicity 181612 rs730881097 1:201332480-201332480 1:201363352-201363352
34 TNNT2 NM_001276345.2(TNNT2):c.1A>G (p.Met1Val)SNV Conflicting interpretations of pathogenicity 811706 1:201342382-201342382 1:201373254-201373254
35 TNNT2 NM_001276345.2(TNNT2):c.281dup (p.Val95fs)duplication Conflicting interpretations of pathogenicity 419127 rs780087395 1:201334750-201334751 1:201365622-201365623
36 TNNT2 NM_001276345.2(TNNT2):c.268C>T (p.Pro90Ser)SNV Conflicting interpretations of pathogenicity 43620 rs397516451 1:201334764-201334764 1:201365636-201365636
37 TNNT2 NM_001276345.2(TNNT2):c.270C>G (p.Pro90=)SNV Conflicting interpretations of pathogenicity 43621 rs140245123 1:201334762-201334762 1:201365634-201365634
38 TNNT2 NM_001276345.2(TNNT2):c.208A>G (p.Met70Val)SNV Conflicting interpretations of pathogenicity 43615 rs141837529 1:201335991-201335991 1:201366863-201366863
39 TNNT2 NM_001276345.2(TNNT2):c.321G>T (p.Lys107Asn)SNV Conflicting interpretations of pathogenicity 43631 rs397516459 1:201334409-201334409 1:201365281-201365281
40 TNNT2 NM_001276345.2(TNNT2):c.422G>C (p.Arg141Pro)SNV Conflicting interpretations of pathogenicity 43638 rs397516464 1:201333493-201333493 1:201364365-201364365
41 TNNT2 NM_001276345.2(TNNT2):c.446G>A (p.Arg149His)SNV Conflicting interpretations of pathogenicity 43642 rs397516466 1:201333469-201333469 1:201364341-201364341
42 TNNT2 NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys)SNV Conflicting interpretations of pathogenicity 12411 rs121964857 1:201328373-201328373 1:201359245-201359245
43 TNNT2 NM_001276345.2(TNNT2):c.851+5G>ASNV Conflicting interpretations of pathogenicity 36886 rs193922620 1:201328746-201328746 1:201359618-201359618
44 TNNT2 NM_001276345.2(TNNT2):c.610-10C>TSNV Conflicting interpretations of pathogenicity 537263 rs375547142 1:201331160-201331160 1:201362032-201362032
45 TNNT2 NM_001276345.2(TNNT2):c.341C>T (p.Ala114Val)SNV Conflicting interpretations of pathogenicity 177633 rs727504245 1:201334389-201334389 1:201365261-201365261
46 TNNT2 NM_001276345.2(TNNT2):c.764C>T (p.Ala255Val)SNV Conflicting interpretations of pathogenicity 177873 rs369181536 1:201330453-201330453 1:201361325-201361325
47 TNNT2 NM_001276345.2(TNNT2):c.644G>A (p.Arg215Gln)SNV Conflicting interpretations of pathogenicity 165539 rs121964860 1:201331116-201331116 1:201361988-201361988
48 TNNT2 NM_001276345.2(TNNT2):c.643C>T (p.Arg215Trp)SNV Conflicting interpretations of pathogenicity 180554 rs45586240 1:201331117-201331117 1:201361989-201361989
49 TNNT2 NM_001276345.2(TNNT2):c.863G>C (p.Arg288Pro)SNV Conflicting interpretations of pathogenicity 177635 rs397516484 1:201328372-201328372 1:201359244-201359244
50 TNNT2 NM_001276345.2(TNNT2):c.601-8C>TSNV Conflicting interpretations of pathogenicity 43657 rs397516475 1:201331530-201331530 1:201362402-201362402

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

73
# 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
11.7 TNNT2 LAMA2 DAG1
2
Show member pathways
11.52 POMT2 POMT1 POMGNT1 DAG1
3 11.12 LAMA2 DAG1
4 11.08 LAMA2 DAG1
5 10.43 LAMA2 DAG1
6 10.29 POMT2 POMT1 POMGNT1 FKRP

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 sarcolemma GO:0042383 8.8 LAMA2 FKRP DAG1

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.58 POMT1 LAMA2 DAG1
2 sarcomere organization GO:0045214 9.43 TNNT2 LDB3
3 protein O-linked glycosylation GO:0006493 9.43 POMT2 POMT1 POMGNT1
4 mannosylation GO:0097502 9.37 POMT2 POMT1
5 Schwann cell differentiation GO:0014037 9.32 LAMA2 DAG1
6 protein glycosylation GO:0006486 9.26 POMT2 POMT1 POMGNT1 FKRP
7 positive regulation of protein O-linked glycosylation GO:1904100 9.16 POMT2 POMT1
8 protein O-linked mannosylation GO:0035269 8.8 POMT2 POMT1 FKRP

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

# Name GO ID Score Top Affiliating Genes
1 transferase activity, transferring glycosyl groups GO:0016757 9.43 POMT2 POMT1 POMGNT1
2 mannosyltransferase activity GO:0000030 9.16 POMT2 POMT1
3 dystroglycan binding GO:0002162 8.96 FKRP DAG1
4 dolichyl-phosphate-mannose-protein mannosyltransferase activity GO:0004169 8.62 POMT2 POMT1

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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