CMD1B
MCID: CRD233
MIFTS: 45

Cardiomyopathy, Dilated, 1b (CMD1B)

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1b

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1b:

Name: Cardiomyopathy, Dilated, 1b 56
Cardiomyopathy, Dilated 1b 56 13
Cardiomyopathy, Familial Dilated, 1; Cmpd1 56
Cardiomyopathy, Familial Dilated; Fdc 56
Cardiomyopathy, Familial Dilated, 1 56
Cardiomyopathy, Familial Dilated 56
Familial Dilated Cardiomyopathy 71
Dilated Cardiomyopathy 1b 12
Cmpd1 56
Cmd1b 56
Fdc 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset usually in second or third decade


HPO:

31
cardiomyopathy, dilated, 1b:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cardiomyopathy, Dilated, 1b

Disease Ontology : 12 A dilated cardiomyopathy that has material basis in variation in the chromosome region 9q13.

MalaCards based summary : Cardiomyopathy, Dilated, 1b, also known as cardiomyopathy, dilated 1b, is related to mitral valve insufficiency and muscular dystrophy. An important gene associated with Cardiomyopathy, Dilated, 1b is BAG3 (BAG Cochaperone 3), and among its related pathways/superpathways are Cardiac conduction and cGMP-PKG signaling pathway. The drugs Perindopril and Angiotensin-Converting Enzyme Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include heart, and related phenotypes are left ventricular hypertrophy and failure to thrive

More information from OMIM: 600884 PS115200

Related Diseases for Cardiomyopathy, Dilated, 1b

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, 1b via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 122)
# Related Disease Score Top Affiliating Genes
1 mitral valve insufficiency 29.7 MYH6 MYBPC3
2 muscular dystrophy 29.6 TTN MYH7 LMNA BAG3
3 muscular dystrophy, congenital, lmna-related 29.4 TTN MYH7 MYH6 LMNA
4 holt-oram syndrome 29.4 MYH7 MYH6 LMNA
5 syncope 29.3 TTN SCN5A
6 dilated cardiomyopathy 29.1 TTN SCN5A RBM20 MYH7 MYH6 MYBPC3
7 cardiac conduction defect 28.8 SCN5A MYH7 MYBPC3 LMNA
8 myopathy 28.0 TTN MYH7 MYH6 MYBPC3 LMNA BAG3
9 atrial standstill 1 27.9 TTN SCN5A RBM20 MYH7 MYH6 MYBPC3
10 congestive heart failure 27.7 TTN SCN5A MYH7 MYH6 MYBPC3 LMNA
11 heart disease 27.4 TTN SCN5A MYH7 MYH6 MYBPC3 LMNA
12 familial isolated dilated cardiomyopathy 26.8 TTN SCN5A RBM20 MYH7 MYH6 MYBPC3
13 hypertrophic cardiomyopathy 26.8 TTN SCN5A RBM20 MYH7 MYH6 MYBPC3
14 left ventricular noncompaction 26.6 TTN SCN5A RBM20 MYH7 MYH6 MYBPC3
15 follicular dendritic cell sarcoma 11.9
16 campomelic dysplasia 11.9
17 muscular dystrophy, congenital, 1b 11.4
18 angioimmunoblastic t-cell lymphoma 11.3
19 gastric cancer 10.2
20 glioblastoma multiforme 10.2
21 hypotonia 10.2
22 alcohol dependence 10.2
23 dermatitis 10.2
24 iga glomerulonephritis 10.2
25 scrapie 10.2
26 muscular dystrophy, limb-girdle, autosomal dominant 1 10.2 LMNA BAG3
27 autosomal dominant limb-girdle muscular dystrophy 10.1 LMNA BAG3
28 reducing body myopathy 1a 10.1 TTN BAG3
29 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.1 TTN LMNA
30 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.1 TTN LMNA
31 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.1 TTN LMNA
32 autosomal recessive limb-girdle muscular dystrophy type 2g 10.1 TTN LMNA
33 autosomal recessive limb-girdle muscular dystrophy type 2a 10.1 TTN LMNA
34 myocarditis 10.1
35 myopathy, myofibrillar, 9, with early respiratory failure 10.1 TTN BAG3
36 creutzfeldt-jakob disease 10.0
37 lymphoma, mucosa-associated lymphoid type 10.0
38 triiodothyronine receptor auxiliary protein 10.0
39 aging 10.0
40 allergic rhinitis 10.0
41 foodborne botulism 10.0
42 adult t-cell leukemia 10.0
43 lymphoma 10.0
44 sarcoma 10.0
45 pulmonary tuberculosis 10.0
46 vaccinia 10.0
47 spindle cell sarcoma 10.0
48 rhinitis 10.0
49 t-cell adult acute lymphocytic leukemia 10.0
50 severe combined immunodeficiency 10.0

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



Diseases related to Cardiomyopathy, Dilated, 1b

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1b

Human phenotypes related to Cardiomyopathy, Dilated, 1b:

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 left ventricular hypertrophy 31 hallmark (90%) HP:0001712
2 failure to thrive 31 frequent (33%) HP:0001508
3 dyspnea 31 frequent (33%) HP:0002094
4 congestive heart failure 31 frequent (33%) HP:0001635
5 atrial fibrillation 31 frequent (33%) HP:0005110
6 reduced ejection fraction 31 frequent (33%) HP:0012664
7 right ventricular dilatation 31 frequent (33%) HP:0005133
8 cough 31 occasional (7.5%) HP:0012735
9 mitral regurgitation 31 occasional (7.5%) HP:0001653
10 palpitations 31 occasional (7.5%) HP:0001962
11 ventricular arrhythmia 31 occasional (7.5%) HP:0004308
12 elevated pulmonary artery pressure 31 occasional (7.5%) HP:0004890
13 left bundle branch block 31 occasional (7.5%) HP:0011713
14 abnormal circulating creatine kinase concentration 31 occasional (7.5%) HP:0040081
15 dilated cardiomyopathy 31 HP:0001644
16 impaired myocardial contractility 31 HP:0006670
17 dilatation 31 HP:0002617

Symptoms via clinical synopsis from OMIM:

56
Cardiovascular Heart:
congestive heart failure
dilated cardiomyopathy
impaired myocardial contractility
ventricular arrhythmia
left ventricular or biventricular dilatation

Clinical features from OMIM:

600884

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.56 BAG3 LMNA MYBPC3 MYH6 MYH7 RBM20
2 muscle MP:0005369 9.23 BAG3 LMNA MYBPC3 MYH6 MYH7 RBM20

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1b

Drugs for Cardiomyopathy, Dilated, 1b (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Perindopril Approved Phase 3 107133-36-8, 82834-16-0 107807
2 Angiotensin-Converting Enzyme Inhibitors Phase 3
3 Antihypertensive Agents Phase 3
4
protease inhibitors Phase 3
5 HIV Protease Inhibitors Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Preventive Effect of ACE Inhibitor Perindopril)on the Onset or Progression of Left Ventricular Dysfoction in Subjects at a Preclinical Stage From Families With Dilated Cardiomyopathy Terminated NCT01583114 Phase 3 perindopril;placebo
2 Sub-project: Use of Small Implantable ECG Recorder in Pregnant Women With Arrhythmia Unknown status NCT02249195
3 Mapping Novel Disease Genes for Dilated Cardiomyopathy Completed NCT00046618
4 Inflammatory/Familial Dilated Cardiomyopathy: Is There a Link to Autoimmune Diseases? TP9a of the KNHI Associated to the DZHK Completed NCT03090425

Search NIH Clinical Center for Cardiomyopathy, Dilated, 1b

Genetic Tests for Cardiomyopathy, Dilated, 1b

Anatomical Context for Cardiomyopathy, Dilated, 1b

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

40
Heart

Publications for Cardiomyopathy, Dilated, 1b

Articles related to Cardiomyopathy, Dilated, 1b:

# Title Authors PMID Year
1
Linkage of familial dilated cardiomyopathy to chromosome 9. Heart Muscle Disease Study Group. 56
7573045 1995
2
Idiopathic dilated cardiomyopathy. 56
7969328 1994
3
Clinical genetics of dilated cardiomyopathy. 56
8194837 1994
4
The frequency of familial dilated cardiomyopathy in a series of patients with idiopathic dilated cardiomyopathy. 56
1727235 1992
5
Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects. 61
19330236 2009
6
Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts, unlinked to the LAMA2, FCMD, MEB and CMD1B loci, in three Tunisian patients. 61
12467726 2003
7
Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42. 61
10677302 2000

Variations for Cardiomyopathy, Dilated, 1b

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

6 (show top 50) (show all 123) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TTN NM_001267550.2(TTN):c.51654C>G (p.Tyr17218Ter)SNV Pathogenic 429894 rs1131691655 2:179474496-179474496 2:178609769-178609769
2 LMNA NM_170707.4(LMNA):c.1494G>A (p.Trp498Ter)SNV Pathogenic 520447 rs57730570 1:156106909-156106909 1:156137118-156137118
3 TTN NM_001267550.2(TTN):c.90706G>T (p.Glu30236Ter)SNV Pathogenic 520476 rs974510652 2:179416921-179416921 2:178552194-178552194
4 TTN NM_001267550.2(TTN):c.51581G>A (p.Trp17194Ter)SNV Pathogenic 520481 rs1553692290 2:179474569-179474569 2:178609842-178609842
5 TTN NM_001267550.2(TTN):c.82657G>T (p.Gly27553Ter)SNV Pathogenic 488810 rs869178171 2:179428202-179428202 2:178563475-178563475
6 SCN5A NM_000335.5(SCN5A):c.1603C>T (p.Arg535Ter)SNV Pathogenic 517279 rs1417036453 3:38645490-38645490 3:38603999-38603999
7 MYH6 NM_002471.3(MYH6):c.735T>G (p.Phe245Leu)SNV Pathogenic 520533 rs1263987728 14:23873505-23873505 14:23404296-23404296
8 TTN NM_001267550.2(TTN):c.85295del (p.Leu28432fs)deletion Pathogenic 684873 2:179425564-179425564 2:178560837-178560837
9 TTN NM_001267550.2(TTN):c.72663del (p.Pro24223fs)deletion Pathogenic 684838 2:179438196-179438196 2:178573469-178573469
10 MYBPC3 NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln)SNV Pathogenic 8608 rs121909374 11:47364129-47364129 11:47342578-47342578
11 MYBPC3 NM_000256.3(MYBPC3):c.551dup (p.Lys185fs)duplication Pathogenic 42771 rs397516059 11:47371427-47371428 11:47349876-47349877
12 SCN5A NM_000335.4(SCN5A):c.3992del (p.Pro1331fs)deletion Pathogenic 179338 rs727504801 3:38601888-38601888 3:38560397-38560397
13 BAG3 NM_004281.4(BAG3):c.925C>T (p.Arg309Ter)SNV Pathogenic 228322 rs869248137 10:121435991-121435991 10:119676479-119676479
14 TTN NM_001267550.2(TTN):c.93166C>T (p.Arg31056Ter)SNV Pathogenic/Likely pathogenic 223326 rs72648250 2:179413187-179413187 2:178548460-178548460
15 TTN NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter)SNV Pathogenic/Likely pathogenic 47301 rs397517689 2:179439257-179439257 2:178574530-178574530
16 TTN NM_001267550.2(TTN):c.91839dup (p.Val30614fs)duplication Pathogenic/Likely pathogenic 179692 rs730880365 2:179414725-179414726 2:178549998-178549999
17 TTN NM_001267550.2(TTN):c.68449C>T (p.Arg22817Ter)SNV Pathogenic/Likely pathogenic 165869 rs371678190 2:179442793-179442793 2:178578066-178578066
18 TTN NM_001267550.2(TTN):c.86799_86802del (p.Glu28935_Gly28936insTer)deletion Pathogenic/Likely pathogenic 179417 rs727504856 2:179424057-179424060 2:178559330-178559333
19 TTN NM_001267550.2(TTN):c.53653G>T (p.Glu17885Ter)SNV Pathogenic/Likely pathogenic 165985 rs727503607 2:179470369-179470369 2:178605642-178605642
20 MYH7 NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr)SNV Pathogenic/Likely pathogenic 42901 rs3218716 14:23894525-23894525 14:23425316-23425316
21 MYH7 NM_000257.4(MYH7):c.2711G>A (p.Arg904His)SNV Pathogenic/Likely pathogenic 42926 rs397516165 14:23893327-23893327 14:23424118-23424118
22 RBM20 NM_001134363.3(RBM20):c.1907G>A (p.Arg636His)SNV Pathogenic/Likely pathogenic 271 rs267607004 10:112572062-112572062 10:110812304-110812304
23 FLNC NM_001458.4(FLNC):c.7385-1G>ASNV Likely pathogenic 684824 7:128496798-128496798 7:128856744-128856744
24 EMD NM_000117.3(EMD):c.265+2T>ASNV Likely pathogenic 684827 X:153608381-153608381 X:154380021-154380021
25 TNNT2 NM_001276345.2(TNNT2):c.385G>C (p.Glu129Gln)SNV Likely pathogenic 684831 1:201334345-201334345 1:201365217-201365217
26 DSP NM_004415.4(DSP):c.3466C>T (p.Gln1156Ter)SNV Likely pathogenic 684828 6:7579889-7579889 6:7579656-7579656
27 BAG3 NM_004281.4(BAG3):c.969_972del (p.Lys324fs)deletion Likely pathogenic 684816 10:121436032-121436035 10:119676520-119676523
28 TTN NM_001267550.2(TTN):c.65655del (p.Thr21886fs)deletion Likely pathogenic 684807 2:179447875-179447875 2:178583148-178583148
29 TTN NM_001267550.2(TTN):c.12521_12522CA[1] (p.Gln4175fs)short repeat Likely pathogenic 684858 2:179605436-179605437 2:178740709-178740710
30 TTN NM_001267550.2(TTN):c.12268C>T (p.Gln4090Ter)SNV Likely pathogenic 684797 2:179605692-179605692 2:178740965-178740965
31 LMNA NM_170707.4(LMNA):c.296G>C (p.Arg99Pro)SNV Likely pathogenic 684819 1:156085005-156085005 1:156115214-156115214
32 BAG3 NM_004281.3(BAG3):c.836C>A (p.Ser279Ter)SNV Likely pathogenic 427243 rs751261054 10:121432095-121432095 10:119672583-119672583
33 TTN NM_001267550.2(TTN):c.103857G>A (p.Trp34619Ter)SNV Likely pathogenic 684869 2:179397485-179397485 2:178532758-178532758
34 LMNA NM_170707.4(LMNA):c.1494G>T (p.Trp498Cys)SNV Likely pathogenic 66838 rs57730570 1:156106909-156106909 1:156137118-156137118
35 LMNA NM_170707.4(LMNA):c.274C>T (p.Leu92Phe)SNV Likely pathogenic 66885 rs267607560 1:156084983-156084983 1:156115192-156115192
36 TTN NM_001267550.2(TTN):c.42311_42314GAAA[1] (p.Lys14105fs)short repeat Likely pathogenic 242422 rs878854371 2:179499190-179499193 2:178634463-178634466
37 MYH7 NM_000257.4(MYH7):c.1549C>A (p.Leu517Met)SNV Likely pathogenic 177624 rs727504237 14:23897738-23897738 14:23428529-23428529
38 TNNT2 NM_001276345.2(TNNT2):c.490-1G>CSNV Conflicting interpretations of pathogenicity 181619 rs111344408 1:201332535-201332535 1:201363407-201363407
39 MYBPC3 NM_000256.3(MYBPC3):c.3771C>A (p.Asn1257Lys)SNV Conflicting interpretations of pathogenicity 181022 rs730880603 11:47353666-47353666 11:47332115-47332115
40 VCL NM_014000.2(VCL):c.2827C>G (p.Pro943Ala)SNV Conflicting interpretations of pathogenicity 192181 rs71579375 10:75871748-75871748 10:74111990-74111990
41 DMD NM_004006.3(DMD):c.6571C>T (p.Arg2191Trp)SNV Conflicting interpretations of pathogenicity 197522 rs149322279 X:31986499-31986499 X:31968382-31968382
42 LMNA NM_170707.4(LMNA):c.344A>T (p.Glu115Val)SNV Conflicting interpretations of pathogenicity 200932 rs794728588 1:156085053-156085053 1:156115262-156115262
43 DMD NM_004006.3(DMD):c.*23_*35deldeletion Conflicting interpretations of pathogenicity 201754 rs752332058 X:31140001-31140013 X:31121884-31121896
44 SCN5A NM_000335.5(SCN5A):c.2944T>C (p.Cys982Arg)SNV Conflicting interpretations of pathogenicity 67769 rs199473182 3:38622706-38622706 3:38581215-38581215
45 SCN5A NM_000335.5(SCN5A):c.3875T>C (p.Phe1292Ser)SNV Conflicting interpretations of pathogenicity 67833 rs41311127 3:38603991-38603991 3:38562500-38562500
46 TNNT2 NM_001276345.2(TNNT2):c.784G>A (p.Glu262Lys)SNV Conflicting interpretations of pathogenicity 178850 rs727504488 1:201330433-201330433 1:201361305-201361305
47 TNNT2 NM_001276345.2(TNNT2):c.764C>T (p.Ala255Val)SNV Conflicting interpretations of pathogenicity 177873 rs369181536 1:201330453-201330453 1:201361325-201361325
48 TTN NM_001267550.2(TTN):c.104950del (p.Glu34984fs)deletion Conflicting interpretations of pathogenicity 165639 rs727503533 2:179396392-179396392 2:178531665-178531665
49 LDB3 NM_007078.3(LDB3):c.1535A>C (p.Gln512Pro)SNV Conflicting interpretations of pathogenicity 45527 rs138951890 10:88476387-88476387 10:86716630-86716630
50 VCL NM_014000.3(VCL):c.1555A>C (p.Ile519Leu)SNV Conflicting interpretations of pathogenicity 45582 rs141033098 10:75855425-75855425 10:74095667-74095667

Expression for Cardiomyopathy, Dilated, 1b

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

Pathways for Cardiomyopathy, Dilated, 1b

GO Terms for Cardiomyopathy, Dilated, 1b

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

# Name GO ID Score Top Affiliating Genes
1 stress fiber GO:0001725 9.43 MYH7 MYH6 BAG3
2 myosin complex GO:0016459 9.4 MYH7 MYH6
3 myofibril GO:0030016 9.37 MYH7 MYH6
4 myosin filament GO:0032982 9.33 MYH7 MYH6 MYBPC3
5 muscle myosin complex GO:0005859 9.32 MYH7 MYH6
6 sarcomere GO:0030017 9.26 TTN MYH7 MYH6 MYBPC3
7 Z disc GO:0030018 9.02 TTN SCN5A MYH7 MYH6 BAG3

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.54 TTN MYH7 MYH6
2 sarcomere organization GO:0045214 9.51 TTN MYH6
3 regulation of heart rate GO:0002027 9.5 SCN5A MYH7 MYH6
4 ATP metabolic process GO:0046034 9.49 MYH7 MYH6
5 regulation of the force of heart contraction GO:0002026 9.48 MYH7 MYH6
6 cardiac muscle hypertrophy in response to stress GO:0014898 9.46 MYH7 MYH6
7 adult heart development GO:0007512 9.43 MYH7 MYH6
8 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.43 MYH7 MYH6 MYBPC3
9 cardiac muscle fiber development GO:0048739 9.4 TTN MYH6
10 striated muscle contraction GO:0006941 9.33 TTN MYH7 MYH6
11 muscle filament sliding GO:0030049 9.26 TTN MYH7 MYH6 MYBPC3
12 cardiac muscle contraction GO:0060048 9.02 TTN SCN5A MYH7 MYH6 MYBPC3

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

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.54 MYH7 MYH6 MYBPC3
2 actin filament binding GO:0051015 9.43 TTN MYH7 MYH6
3 structural constituent of muscle GO:0008307 9.32 TTN MYBPC3
4 microfilament motor activity GO:0000146 9.16 MYH7 MYH6
5 actin-dependent ATPase activity GO:0030898 8.96 MYH7 MYH6
6 calmodulin binding GO:0005516 8.92 TTN SCN5A MYH7 MYH6

Sources for Cardiomyopathy, Dilated, 1b

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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