MCID: FML304
MIFTS: 49

Familial Isolated Dilated Cardiomyopathy

Categories: Cardiovascular diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Familial Isolated Dilated Cardiomyopathy

MalaCards integrated aliases for Familial Isolated Dilated Cardiomyopathy:

Name: Familial Isolated Dilated Cardiomyopathy 58 6
Familial or Idiopathic Dilated Cardiomyopathy 58

Characteristics:

Orphanet epidemiological data:

58
familial isolated dilated cardiomyopathy
Inheritance: Autosomal dominant,Autosomal recessive,Mitochondrial inheritance,X-linked recessive; Prevalence: 1-9/100000 (Europe),1-5/10000 (Europe); Age of onset: All ages; Age of death: any age;

Classifications:



External Ids:

ICD10 via Orphanet 33 I42.0
UMLS via Orphanet 72 C0340427
Orphanet 58 ORPHA154

Summaries for Familial Isolated Dilated Cardiomyopathy

MalaCards based summary : Familial Isolated Dilated Cardiomyopathy, also known as familial or idiopathic dilated cardiomyopathy, is related to cardiomyopathy, familial hypertrophic, 4 and cardiomyopathy, dilated, 1e. An important gene associated with Familial Isolated Dilated Cardiomyopathy is DSG2 (Desmoglein 2), and among its related pathways/superpathways are Cardiac conduction and Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases. Affiliated tissues include heart, skeletal muscle and endothelial, and related phenotypes are dilated cardiomyopathy and sensorineural hearing impairment

Related Diseases for Familial Isolated Dilated Cardiomyopathy

Diseases related to Familial Isolated Dilated Cardiomyopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 119)
# Related Disease Score Top Affiliating Genes
1 cardiomyopathy, familial hypertrophic, 4 30.9 TNNT2 MYH7 MYBPC3 DMD
2 cardiomyopathy, dilated, 1e 30.6 TNNC1 SCN5A RBM20 NEXN MYH7 DES
3 atrial standstill 1 30.5 TNNT2 SCN5A RBM20 NEXN MYH7 MYBPC3
4 left ventricular noncompaction 30.1 TNNT2 TNNC1 SCN5A RBM20 NEXN MYPN
5 dilated cardiomyopathy 30.0 TNNT2 TNNC1 SGCD SCN5A RBM20 PSEN1
6 extracardiac rhabdomyoma 10.5 DMD DES
7 fibroblastic rheumatism 10.5 DES ACTC1
8 ovarian fibrothecoma 10.5 DES ACTC1
9 cytoplasmic body myopathy 10.5 DMD DES
10 cardioneuromyopathy with hyaline masses and nemaline rods 10.5 DMD DES
11 adult cystic nephroma 10.5 DES ACTC1
12 benign metastasizing leiomyoma 10.5 DES ACTC1
13 microcolon 10.5 DMD DES
14 mobitz type ii atrioventricular block 10.5 TNNT2 MYH7 ACTC1
15 pulmonary vein stenosis 10.5 DES ACTC1
16 cutaneous leiomyosarcoma 10.5 DES ACTC1
17 left bundle branch hemiblock 10.5 TNNT2 SCN5A DSG2
18 botryoid rhabdomyosarcoma 10.5 DES ACTC1
19 autosomal dominant distal myopathy 10.5 MYH7 DMD DES
20 tricuspid valve disease 10.5 TNNT2 MYH7 ACTC1
21 parachordoma 10.5 DES ACTC1
22 reducing body myopathy 10.5 DMD DES
23 rare tumor 10.5 DES ACTC1
24 myopathy, spheroid body 10.5 MYPN DES BAG3
25 syncope 10.5 TNNT2 SCN5A ACTN2
26 syringocystadenoma papilliferum 10.5 DES ACTC1
27 dextrocardia 10.5 TNNT2 MYH7 ACTC1
28 familial isolated arrhythmogenic right ventricular dysplasia 10.5 SCN5A BAG3
29 myopathy, myofibrillar, 3 10.5 MYPN DMD BAG3
30 left ventricular noncompaction 1 10.5 SCN5A MYPN ACTN2
31 angiolipoma 10.5 DES ACTC1
32 glomangioma 10.5 DES ACTC1
33 mitral valve insufficiency 10.5 TNNT2 MYH7 MYBPC3
34 spindle cell lipoma 10.5 DES ACTC1
35 reticulum cell sarcoma 10.5 DES ACTC1
36 lmna-related dilated cardiomyopathy 10.5 RBM20 MYBPC3 BAG3
37 brugada syndrome 1 10.5 SCN5A MYBPC3 DSG2
38 megacystis-microcolon-intestinal hypoperistalsis syndrome 10.5 DMD DES ACTC1
39 danon disease 10.5 MYH7 MYBPC3 CSRP3
40 autosomal recessive limb-girdle muscular dystrophy type 2d 10.5 SGCD FKTN DMD
41 myopathy, myofibrillar, 4 10.5 MYPN CRYAB BAG3 ACTN2
42 myopathy, myofibrillar, 5 10.5 DMD CRYAB BAG3
43 muscular dystrophy, congenital merosin-deficient, 1a 10.5 SGCD FKTN DMD
44 tibial muscular dystrophy 10.5 MYPN MYH7 DMD
45 barth syndrome 10.5 TNNT2 MYH7 MYBPC3 ACTC1
46 ossifying fibromyxoid tumor 10.5 DES ACTC1
47 cardiomyopathy, familial restrictive, 3 10.5 TNNT2 MYPN
48 batten-turner congenital myopathy 10.5 MYH7 DMD DES
49 cardiac conduction defect 10.5 SCN5A MYH7 MYBPC3
50 cardiomyopathy, dilated, 1a 10.5 RBM20 MYBPC3 BAG3

Graphical network of the top 20 diseases related to Familial Isolated Dilated Cardiomyopathy:



Diseases related to Familial Isolated Dilated Cardiomyopathy

Symptoms & Phenotypes for Familial Isolated Dilated Cardiomyopathy

Human phenotypes related to Familial Isolated Dilated Cardiomyopathy:

58 31 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dilated cardiomyopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001644
2 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407
3 myopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003198
4 lipoatrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0100578
5 palmoplantar keratoderma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000982
6 elevated serum creatine kinase 58 31 occasional (7.5%) Occasional (29-5%) HP:0003236
7 emg abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0003457
8 abnormality of neutrophils 58 31 occasional (7.5%) Occasional (29-5%) HP:0001874

MGI Mouse Phenotypes related to Familial Isolated Dilated Cardiomyopathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.19 ABCC9 ACTC1 BAG3 CSRP3 DES DMD
2 behavior/neurological MP:0005386 10.13 ABCC9 BAG3 CRYAB DES DMD FKTN
3 homeostasis/metabolism MP:0005376 10 ABCC9 ACTC1 BAG3 CRYAB CSRP3 DES
4 mortality/aging MP:0010768 9.86 ABCC9 ACTC1 BAG3 CSRP3 DES DMD
5 muscle MP:0005369 9.6 ABCC9 ACTC1 BAG3 CRYAB CSRP3 DES

Drugs & Therapeutics for Familial Isolated Dilated Cardiomyopathy

Search Clinical Trials , NIH Clinical Center for Familial Isolated Dilated Cardiomyopathy

Genetic Tests for Familial Isolated Dilated Cardiomyopathy

Anatomical Context for Familial Isolated Dilated Cardiomyopathy

MalaCards organs/tissues related to Familial Isolated Dilated Cardiomyopathy:

40
Heart, Skeletal Muscle, Endothelial

Publications for Familial Isolated Dilated Cardiomyopathy

Articles related to Familial Isolated Dilated Cardiomyopathy:

(show top 50) (show all 99)
# Title Authors PMID Year
1
Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy. 61 6
20215591 2010
2
Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy. 61 6
19412328 2008
3
HEART DISEASE. Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy. 6
26315439 2015
4
Novel α-actinin 2 variant associated with familial hypertrophic cardiomyopathy and juvenile atrial arrhythmias: a massively parallel sequencing study. 6
25173926 2014
5
Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden death. 6
25224718 2014
6
RAF1 mutations in childhood-onset dilated cardiomyopathy. 6
24777450 2014
7
S151A δ-sarcoglycan mutation causes a mild phenotype of cardiomyopathy in mice. 6
23695275 2014
8
Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy. 6
23768516 2013
9
Novel mutations in the sarcomeric protein myopalladin in patients with dilated cardiomyopathy. 6
22892539 2013
10
Escape capture bigeminy: phenotypic marker of cardiac sodium channel voltage sensor mutation R222Q. 6
22710484 2012
11
R222Q SCN5A mutation is associated with reversible ventricular ectopy and dilated cardiomyopathy. 6
22999724 2012
12
Multifocal ectopic Purkinje-related premature contractions: a new SCN5A-related cardiac channelopathy. 6
22766342 2012
13
Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations. 6
22286171 2012
14
Homozygosity mapping and exome sequencing reveal GATAD1 mutation in autosomal recessive dilated cardiomyopathy. 6
21965549 2011
15
Dilated cardiomyopathy-associated BAG3 mutations impair Z-disc assembly and enhance sensitivity to apoptosis in cardiomyocytes. 6
21898660 2011
16
Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype. 6
21551322 2011
17
Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy. 6
21353195 2011
18
Lethal Arg9Cys phospholamban mutation hinders Ca2+-ATPase regulation and phosphorylation by protein kinase A. 6
21282613 2011
19
PLN-encoded phospholamban mutation in a large cohort of hypertrophic cardiomyopathy cases: summary of the literature and implications for genetic testing. 6
21167350 2011
20
Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase. 6
20551992 2010
21
Severe familial left ventricular non-compaction cardiomyopathy due to a novel troponin T (TNNT2) mutation. 6
20083571 2010
22
Identification of novel mutations in RBM20 in patients with dilated cardiomyopathy. 6
20590677 2010
23
Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: a genome-wide analysis. 6
20022194 2010
24
Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy. 6
19881492 2009
25
Fukutin gene retrotransposal insertion in a non-Japanese Fukuyama congenital muscular dystrophy (FCMD) patient. 6
19842201 2009
26
Does delta-sarcoglycan-associated autosomal-dominant cardiomyopathy exist? 6
19259135 2009
27
Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy. 6
19712804 2009
28
Identification and functional characterization of cardiac troponin I as a novel disease gene in autosomal dominant dilated cardiomyopathy. 6
19590045 2009
29
Cardiac troponin T mutation in familial cardiomyopathy with variable remodeling and restrictive physiology. 6
18651846 2008
30
A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy. 6
18678517 2008
31
Revised spectrum of mutations in sarcoglycanopathies. 6
18285821 2008
32
Mutations in sarcomere protein genes in left ventricular noncompaction. 6
18506004 2008
33
Shared genetic causes of cardiac hypertrophy in children and adults. 6
18403758 2008
34
A human phospholamban promoter polymorphism in dilated cardiomyopathy alters transcriptional regulation by glucocorticoids. 6
18241046 2008
35
Mutations in the Z-band protein myopalladin gene and idiopathic dilated cardiomyopathy. 6
18006477 2008
36
Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy. 6
17655857 2007
37
Laminin-alpha4 and integrin-linked kinase mutations cause human cardiomyopathy via simultaneous defects in cardiomyocytes and endothelial cells. 6
17646580 2007
38
Prevalence of desmin mutations in dilated cardiomyopathy. 6
17325244 2007
39
Desmoglein-2 mutations in arrhythmogenic right ventricular cardiomyopathy: a genotype-phenotype characterization of familial disease. 6
17105751 2007
40
Nuclear sequestration of delta-sarcoglycan disrupts the nuclear localization of lamin A/C and emerin in cardiomyocytes. 6
17164264 2007
41
Mutations of presenilin genes in dilated cardiomyopathy and heart failure. 6
17186461 2006
42
Echocardiographic-determined septal morphology in Z-disc hypertrophic cardiomyopathy. 6
17097056 2006
43
Phenotypic variability of mitochondrial disease caused by a nuclear mutation in complex II. 6
16798039 2006
44
Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness. 6
17036286 2006
45
Obstructive hypertrophic cardiomyopathy is associated with reduced expression of vinculin in the intercalated disc. 6
16949038 2006
46
alphaB-crystallin mutation in dilated cardiomyopathies: low prevalence in a consecutive series of 200 unrelated probands. 6
16793013 2006
47
SCN5A mutation associated with cardiac conduction defect and atrial arrhythmias. 6
16684018 2006
48
Genetic analysis in patients with left ventricular noncompaction and evidence for genetic heterogeneity. 6
16427346 2006
49
Alpha B-crystallin mutation in dilated cardiomyopathy. 6
16483541 2006
50
Identification of a metavinculin missense mutation, R975W, associated with both hypertrophic and dilated cardiomyopathy. 6
16236538 2006

Variations for Familial Isolated Dilated Cardiomyopathy

ClinVar genetic disease variations for Familial Isolated Dilated Cardiomyopathy:

6 (show top 50) (show all 13949)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DMD NM_004006.3(DMD):c.4375del (p.Arg1459fs) Deletion Pathogenic 930423 X:32407761-32407761 X:32389644-32389644
2 TPM1 NM_001018005.2(TPM1):c.523G>A (p.Asp175Asn) SNV Pathogenic 12456 rs104894503 15:63353098-63353098 15:63060899-63060899
3 DMD NM_004006.2(DMD):c.10086+1G>A SNV Pathogenic 94422 rs398123828 X:31198486-31198486 X:31180369-31180369
4 DMD NM_004006.3(DMD):c.10210dup (p.Asp3404fs) Duplication Pathogenic 931458 X:31196798-31196799 X:31178681-31178682
5 DMD NM_004006.2(DMD):c.5287C>T (p.Arg1763Ter) SNV Pathogenic 94658 rs398123981 X:32380943-32380943 X:32362826-32362826
6 DMD NM_004020.3(DMD):c.2843+9127del Deletion Pathogenic 94436 rs398123839 X:31187659-31187659 X:31169542-31169542
7 DMD NM_004006.2(DMD):c.1637G>A (p.Trp546Ter) SNV Pathogenic 374191 rs1057518962 X:32591929-32591929 X:32573812-32573812
8 DMD NM_004006.3(DMD):c.4345-3C>G SNV Pathogenic 931998 X:32407794-32407794 X:32389677-32389677
9 DMD NM_004006.2(DMD):c.93+1G>C SNV Pathogenic 523470 rs886042604 X:33038255-33038255 X:33020138-33020138
10 BAG3 NM_004281.4(BAG3):c.751del (p.Gln251fs) Deletion Pathogenic 935177 10:121432009-121432009 10:119672497-119672497
11 CEP85L NM_002667.5(PLN):c.26_29dup (p.Ala11fs) Duplication Pathogenic 940239 6:118880106-118880107 6:118558943-118558944
12 ABCC9 NM_005691.3(ABCC9):c.3347G>A (p.Arg1116His) SNV Pathogenic 35533 rs387907227 12:21995374-21995374 12:21842440-21842440
13 BAG3 NM_004281.4(BAG3):c.108G>A (p.Trp36Ter) SNV Pathogenic 949224 10:121411295-121411295 10:119651783-119651783
14 CEP85L NM_002667.5(PLN):c.85C>T (p.Gln29Ter) SNV Pathogenic 949832 6:118880169-118880169 6:118559006-118559006
15 TTN-AS1 NM_001267550.2(TTN):c.107377+1G>C SNV Pathogenic 949939 2:179393000-179393000 2:178528273-178528273
16 MYPN NM_032578.4(MYPN):c.2968G>T (p.Glu990Ter) SNV Pathogenic 955067 10:69954162-69954162 10:68194405-68194405
17 TTN-AS1 NM_001267550.2(TTN):c.106954C>T (p.Arg35652Ter) SNV Pathogenic 242530 rs565675340 2:179393524-179393524 2:178528797-178528797
18 BAG3 NM_004281.4(BAG3):c.329dup (p.His112fs) Duplication Pathogenic 957662 10:121429508-121429509 10:119669996-119669997
19 BAG3 NM_004281.4(BAG3):c.1057C>T (p.Gln353Ter) SNV Pathogenic 957818 10:121436123-121436123 10:119676611-119676611
20 TTN-AS1 NM_001267550.2(TTN):c.103749del (p.Lys34583fs) Deletion Pathogenic 959248 2:179397593-179397593 2:178532866-178532866
21 TNNT2 NM_001276345.2(TNNT2):c.851+1G>A SNV Pathogenic 43673 rs111377893 1:201328750-201328750 1:201359622-201359622
22 TTN-AS1 NM_001267550.2(TTN):c.56806C>T (p.Arg18936Ter) SNV Pathogenic 381589 rs72646828 2:179463631-179463631 2:178598904-178598904
23 TTN-AS1 NM_001267550.2(TTN):c.85008_85011del (p.Glu28338fs) Deletion Pathogenic 223352 rs869312100 2:179425848-179425851 2:178561121-178561124
24 BAG3 NM_004281.4(BAG3):c.72dup (p.Gly25fs) Duplication Pathogenic 966196 10:121411253-121411254 10:119651741-119651742
25 BAG3 NM_004281.4(BAG3):c.1031_1032del (p.Lys344fs) Deletion Pathogenic 966374 10:121436096-121436097 10:119676584-119676585
26 TTN NM_001267550.2(TTN):c.15496+1G>A SNV Pathogenic 46601 rs397517481 2:179599054-179599054 2:178734327-178734327
27 BAG3 NM_004281.3(BAG3):c.258C>G (p.Tyr86Ter) SNV Pathogenic 504333 rs1554876999 10:121429440-121429440 10:119669928-119669928
28 TNNT2 NM_001276345.2(TNNT2):c.547C>T (p.Arg183Trp) SNV Pathogenic 228409 rs727503512 1:201332477-201332477 1:201363349-201363349
29 LMNA NM_170707.4(LMNA):c.949G>A (p.Glu317Lys) SNV Pathogenic 48093 rs56816490 1:156105704-156105704 1:156135913-156135913
30 TTN-AS1 NM_001267550.2(TTN):c.97560G>A (p.Trp32520Ter) SNV Pathogenic 975933 2:179406244-179406244 2:178541517-178541517
31 MYH7 NM_000257.4(MYH7):c.2163-1G>A SNV Pathogenic 132914 rs606231334 14:23895028-23895028 14:23425819-23425819
32 TNNI3 NM_000363.5(TNNI3):c.204del (p.Arg69fs) Deletion Pathogenic 179447 rs727504872 19:55667647-55667647 19:55156279-55156279
33 LDB3 NM_007078.3(LDB3):c.566C>T (p.Ser189Leu) SNV Pathogenic 4731 rs45487699 10:88441437-88441437 10:86681680-86681680
34 MYBPC3 NM_000256.3(MYBPC3):c.2843A>C (p.Asn948Thr) SNV Pathogenic 8615 rs121909376 11:47356655-47356655 11:47335104-47335104
35 SDHA NM_004168.4(SDHA):c.1664G>A (p.Gly555Glu) SNV Pathogenic 8745 rs137852768 5:251453-251453 5:251338-251338
36 ACTC1 NM_005159.5(ACTC1):c.1088A>G (p.Glu363Gly) SNV Pathogenic 18324 rs121912674 15:35082659-35082659 15:34790458-34790458
37 BAG3 NM_004281.4(BAG3):c.367C>T (p.Arg123Ter) SNV Pathogenic 30397 rs387906875 10:121429549-121429549 10:119670037-119670037
38 MYBPC3 NM_000256.3(MYBPC3):c.3791G>T (p.Cys1264Phe) SNV Pathogenic 64613 rs397514751 11:47353646-47353646 11:47332095-47332095
39 MYBPC3 NM_000256.3(MYBPC3):c.2618C>T (p.Pro873Leu) SNV Pathogenic 64615 rs371401403 11:47357547-47357547 11:47335996-47335996
40 MYBPC3 NM_000256.3(MYBPC3):c.2864_2865del (p.Pro955fs) Deletion Pathogenic 42663 rs397515990 11:47356633-47356634 11:47335082-47335083
41 MYH6 NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser) SNV Pathogenic 14151 rs143978652 14:23862646-23862646 14:23393437-23393437
42 MYH7 NM_000257.4(MYH7):c.5378_5380del (p.Leu1793del) Deletion Pathogenic 143218 rs587779396 14:23884383-23884385 14:23415174-23415176
43 MYH7 NM_000257.4(MYH7):c.5740G>A (p.Glu1914Lys) SNV Pathogenic 43088 rs397516254 14:23883018-23883018 14:23413809-23413809
44 ACTC1 NM_005159.5(ACTC1):c.894C>G (p.Asn298Lys) SNV Pathogenic 217889 rs863225303 15:35083411-35083411 15:34791210-34791210
45 TTN-AS1 NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs) Deletion Pathogenic 47599 rs397517776 2:179404492-179404493 2:178539765-178539766
46 SCN5A NM_000335.5(SCN5A):c.659C>T (p.Thr220Ile) SNV Pathogenic 9396 rs45620037 3:38655278-38655278 3:38613787-38613787
47 TTN-AS1 NM_001267550.2(TTN):c.52307_52310dup (p.Glu17437delinsAspTer) Duplication Pathogenic 202450 rs794729323 2:179473427-179473428 2:178608700-178608701
48 MYH7 NM_000257.4(MYH7):c.1988G>A (p.Arg663His) SNV Pathogenic 42875 rs371898076 14:23896042-23896042 14:23426833-23426833
49 MYBPC3 NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) SNV Pathogenic 8608 rs121909374 11:47364129-47364129 11:47342578-47342578
50 MYBPC3 NM_000256.3(MYBPC3):c.927-9G>A SNV Pathogenic 42807 rs397516083 11:47367930-47367930 11:47346379-47346379

Expression for Familial Isolated Dilated Cardiomyopathy

Search GEO for disease gene expression data for Familial Isolated Dilated Cardiomyopathy.

Pathways for Familial Isolated Dilated Cardiomyopathy

Pathways related to Familial Isolated Dilated Cardiomyopathy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.49 TNNT2 TNNC1 SCN5A MYBPC3 DMD DES
2
Show member pathways
12.29 PSEN1 MYH7 ACTN2 ACTC1
3
Show member pathways
12.27 TNNT2 TNNC1 SCN5A MYH7 ACTC1
4 11.84 SGCD DSG2 DMD DES ACTN2
5
Show member pathways
11.83 TNNT2 TNNC1 SGCD MYH7 MYBPC3 DMD
6 11.56 TNNT2 TNNC1 MYH7 ACTC1
7 11.3 TNNT2 SCN5A ACTC1
8 11.02 TNNT2 TNNC1 MYBPC3 DMD DES ACTN2

GO Terms for Familial Isolated Dilated Cardiomyopathy

Cellular components related to Familial Isolated Dilated Cardiomyopathy according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.39 SGCD SCN5A PSEN1 NEXN MYPN MYH7
2 plasma membrane GO:0005886 10.36 SGCD SCN5A PSEN1 NEXN MYPN DSG2
3 cytoskeleton GO:0005856 10.08 SGCD NEXN DMD DES CSRP3 ACTN2
4 cell surface GO:0009986 9.97 SCN5A PSEN1 DSG2 DMD CRYAB
5 axon GO:0030424 9.88 PSEN1 NEXN MYPN DMD CRYAB
6 filopodium GO:0030175 9.7 DMD ACTN2 ACTC1
7 lateral plasma membrane GO:0016328 9.67 SCN5A DSG2 DMD
8 sarcolemma GO:0042383 9.65 SGCD SCN5A PSEN1 DMD DES
9 intercalated disc GO:0014704 9.63 SCN5A DSG2 DES
10 myofibril GO:0030016 9.61 TNNT2 MYH7 DMD
11 myosin filament GO:0032982 9.58 MYH7 MYBPC3
12 dystrophin-associated glycoprotein complex GO:0016010 9.56 SGCD DMD
13 sarcomere GO:0030017 9.56 TNNT2 MYPN MYH7 MYBPC3 CSRP3 ACTN2
14 I band GO:0031674 9.54 MYPN CRYAB ACTC1
15 troponin complex GO:0005861 9.51 TNNT2 TNNC1
16 contractile fiber GO:0043292 9.5 TNNC1 DES CRYAB
17 cardiac myofibril GO:0097512 9.46 TNNT2 MYBPC3 DES CRYAB
18 cardiac Troponin complex GO:1990584 9.4 TNNT2 TNNC1
19 Z disc GO:0030018 9.36 SCN5A PSEN1 NEXN MYPN MYH7 DMD

Biological processes related to Familial Isolated Dilated Cardiomyopathy according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.93 PSEN1 NEXN MYPN MYBPC3 DSG2 ACTN2
2 muscle contraction GO:0006936 9.77 TNNT2 MYH7 DES CRYAB ACTN2
3 muscle organ development GO:0007517 9.65 SGCD FKTN DMD CSRP3 CRYAB
4 sarcomere organization GO:0045214 9.62 TNNT2 MYPN CSRP3 ACTN2
5 regulation of heart rate GO:0002027 9.61 SCN5A MYH7 DMD
6 regulation of the force of heart contraction GO:0002026 9.56 MYH7 CSRP3
7 cardiac muscle contraction GO:0060048 9.56 TNNT2 TNNC1 SCN5A MYH7 MYBPC3 DMD
8 regulation of muscle contraction GO:0006937 9.55 TNNT2 TNNC1
9 dendrite self-avoidance GO:0070593 9.54 NEXN MYPN
10 heart contraction GO:0060047 9.52 SGCD ACTC1
11 cardiac myofibril assembly GO:0055003 9.51 CSRP3 ACTC1
12 response to denervation involved in regulation of muscle adaptation GO:0014894 9.49 SCN5A DMD
13 transition between fast and slow fiber GO:0014883 9.48 TNNC1 MYH7
14 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.46 TNNT2 TNNC1 MYH7 MYBPC3
15 regulation of muscle filament sliding speed GO:0032972 9.4 TNNT2 TNNC1
16 muscle filament sliding GO:0030049 9.23 TNNT2 TNNC1 MYH7 MYBPC3 DMD DES

Molecular functions related to Familial Isolated Dilated Cardiomyopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATPase activity GO:0016887 9.71 TNNT2 MYH7 ACTC1 ABCC9
2 actin filament binding GO:0051015 9.65 TNNC1 NEXN MYH7 DMD ACTN2
3 actin binding GO:0003779 9.56 TNNT2 NEXN MYPN MYH7 MYBPC3 DMD
4 myosin binding GO:0017022 9.5 MYBPC3 DMD ACTC1
5 nitric-oxide synthase binding GO:0050998 9.46 SCN5A DMD
6 cytoskeletal protein binding GO:0008092 9.46 MYPN DES CRYAB ACTN2
7 titin binding GO:0031432 9.43 MYBPC3 ACTN2
8 troponin I binding GO:0031013 9.37 TNNT2 TNNC1
9 structural constituent of muscle GO:0008307 9.02 NEXN MYBPC3 DMD CSRP3 ACTN2

Sources for Familial Isolated Dilated Cardiomyopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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