CMD1B
MCID: CRD233
MIFTS: 46

Cardiomyopathy, Dilated, 1b (CMD1B)

Categories: Bone diseases, Cardiovascular diseases, Ear diseases, Genetic diseases, Immune diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cardiomyopathy, Dilated, 1b

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1b:

Name: Cardiomyopathy, Dilated, 1b 57
Dilated Cardiomyopathy 1b 12 29 6
Cardiomyopathy, Dilated 1b 57 13
Cardiomyopathy, Familial Dilated, 1; Cmpd1 57
Cardiomyopathy, Familial Dilated; Fdc 57
Cardiomyopathy, Familial Dilated, 1 57
Cardiomyopathy, Familial Dilated 57
Familial Dilated Cardiomyopathy 71
Cmpd1 57
Cmd1b 57
Fdc 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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 dilated cardiomyopathy 1b, is related to muscular dystrophy, congenital, lmna-related 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. 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 158)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, congenital, lmna-related 29.1 TTN-AS1 TTN MYH7 MYH6 LMNA EMD
2 muscular dystrophy 28.5 TTN-AS1 TTN TNNT2 MYH7 LMNA EMD
3 dilated cardiomyopathy 28.3 TTN-AS1 TTN TNNT2 SCN5A RBM20 MYH7
4 atrial standstill 1 27.2 TTN-AS1 TTN TNNT2 SCN5A RBM20 MYH7
5 campomelic dysplasia 11.4
6 muscular dystrophy, congenital, 1b 11.1
7 follicular dendritic cell sarcoma 11.0
8 emerinopathy 10.2 LMNA EMD
9 brugada syndrome 5 10.2 SCN5A LMNA
10 left ventricular noncompaction 1 10.2 SCN5A MYH6
11 x-linked emery-dreifuss muscular dystrophy 10.2 LMNA EMD
12 arrhythmogenic right ventricular dysplasia, familial, 9 10.2 LMNA DSP
13 emery-dreifuss muscular dystrophy 5, autosomal dominant 10.2 LMNA EMD
14 scapuloperoneal myopathy 10.2 MYH7 MYH6
15 familial sick sinus syndrome 10.2 SCN5A MYH6
16 emery-dreifuss muscular dystrophy 3, autosomal recessive 10.2 LMNA EMD
17 charcot-marie-tooth disease, axonal, type 2b1 10.2 LMNA EMD
18 myopathy, x-linked, with postural muscle atrophy 10.2 LMNA EMD
19 lipodystrophy, familial partial, type 5 10.2 LMNA EMD
20 left ventricular noncompaction 2 10.2 TTN-AS1 TTN
21 progressive familial heart block, type ia 10.1 SCN5A DSP
22 emery-dreifuss muscular dystrophy 4, autosomal dominant 10.1 LMNA EMD
23 multiminicore disease 10.1 TTN-AS1 TTN
24 leukodystrophy, demyelinating, adult-onset, autosomal dominant 10.1 LMNA EMD
25 autosomal recessive limb-girdle muscular dystrophy type 2a 10.1 TTN LMNA
26 sinoatrial node disease 10.1 SCN5A MYH6
27 myopathy, myofibrillar, 3 10.1 TTN BAG3
28 hereditary proximal myopathy with early respiratory failure 10.1 TTN-AS1 TTN
29 greenberg dysplasia 10.1 LMNA EMD
30 danon disease 10.1 MYH7 MYH6 MYBPC3
31 salih myopathy 10.1 TTN-AS1 TTN
32 emery-dreifuss muscular dystrophy 1, x-linked 10.1 LMNA EMD
33 holt-oram syndrome 10.1 MYH7 MYH6 LMNA
34 arrhythmogenic right ventricular dysplasia, familial, 5 10.1 EMD DSP
35 myopathy, proximal, with ophthalmoplegia 10.1 MYH6 EMD
36 osteopoikilosis 10.1 LMNA EMD
37 autosomal dominant limb-girdle muscular dystrophy 10.1 LMNA EMD BAG3
38 leukemia, acute myeloid 10.1
39 scrapie 10.1
40 prion disease 10.1
41 myopathy, distal, 1 10.1 MYH7 MYH6
42 familial isolated arrhythmogenic right ventricular dysplasia 10.1 SCN5A DSP BAG3
43 buschke-ollendorff syndrome 10.1 LMNA EMD
44 myopathy, myofibrillar, 1 10.0 TTN LMNA BAG3
45 bethlem myopathy 1 10.0 MYH7 LMNA EMD
46 cardiomyopathy, familial hypertrophic, 9 10.0 TTN-AS1 TTN
47 malignant hyperthermia 10.0 SCN5A MYH7 MYH6
48 laminopathy 10.0 SCN5A LMNA EMD
49 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 10.0 SCN5A MYH7 DSP
50 limb-girdle muscular dystrophy 10.0 TTN-AS1 TTN LMNA

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 congestive heart failure 31 frequent (33%) HP:0001635
4 dyspnea 31 frequent (33%) HP:0002094
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 mitral regurgitation 31 occasional (7.5%) HP:0001653
9 cough 31 occasional (7.5%) HP:0012735
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 vascular dilatation 31 HP:0002617

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Cardiovascular Heart:
congestive heart failure
dilated cardiomyopathy
impaired myocardial contractility
ventricular arrhythmia
left ventricular or biventricular dilatation

Clinical features from OMIM®:

600884 (Updated 05-Mar-2021)

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.7 BAG3 DSP EMD LMNA MYBPC3 MYH6
2 muscle MP:0005369 9.36 BAG3 DSP EMD LMNA MYBPC3 MYH6

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1b

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Open-Label Exploratory Study of Oral MYK-491 in Stable Ambulatory Patients With Primary Dilated Cardiomyopathy Due to Either MYH7 or TTN Variants Recruiting NCT04572893 Phase 2 danicamtiv
2 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

Genetic tests related to Cardiomyopathy, Dilated, 1b:

# Genetic test Affiliating Genes
1 Dilated Cardiomyopathy 1b 29

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. 57
7573045 1995
2
Idiopathic dilated cardiomyopathy. 57
7969328 1994
3
Clinical genetics of dilated cardiomyopathy. 57
8194837 1994
4
The frequency of familial dilated cardiomyopathy in a series of patients with idiopathic dilated cardiomyopathy. 57
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 129)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TTN-AS1 NM_001267550.2(TTN):c.82657G>T (p.Gly27553Ter) SNV Pathogenic 488810 rs869178171 2:179428202-179428202 2:178563475-178563475
2 TTN-AS1 NM_001267550.2(TTN):c.53653G>T (p.Glu17885Ter) SNV Pathogenic 165985 rs727503607 2:179470369-179470369 2:178605642-178605642
3 BAG3 NM_004281.4(BAG3):c.925C>T (p.Arg309Ter) SNV Pathogenic 228322 rs869248137 10:121435991-121435991 10:119676479-119676479
4 MYH7 NM_000257.4(MYH7):c.4276G>A (p.Glu1426Lys) SNV Pathogenic 43005 rs397516208 14:23886789-23886789 14:23417580-23417580
5 TTN-AS1 NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter) SNV Pathogenic 47301 rs397517689 2:179439257-179439257 2:178574530-178574530
6 TTN-AS1 NM_001267550.2(TTN):c.72663del (p.Pro24223fs) Deletion Pathogenic 684838 rs1575775337 2:179438196-179438196 2:178573469-178573469
7 TTN-AS1 NM_001267550.2(TTN):c.51654C>G (p.Tyr17218Ter) SNV Pathogenic 429894 rs1131691655 2:179474496-179474496 2:178609769-178609769
8 TTN-AS1 NM_001267550.2(TTN):c.85295del (p.Leu28432fs) Deletion Pathogenic 684873 rs1575616801 2:179425564-179425564 2:178560837-178560837
9 TTN-AS1 NM_001267550.2(TTN):c.51581G>A (p.Trp17194Ter) SNV Pathogenic 520481 rs1553692290 2:179474569-179474569 2:178609842-178609842
10 MYH6 NM_002471.3(MYH6):c.735T>G (p.Phe245Leu) SNV Pathogenic 520533 rs1263987728 14:23873505-23873505 14:23404296-23404296
11 LMNA NM_170707.4(LMNA):c.1494G>A (p.Trp498Ter) SNV Pathogenic 520447 rs57730570 1:156106909-156106909 1:156137118-156137118
12 TTN-AS1 NM_001267550.2(TTN):c.90706G>T (p.Glu30236Ter) SNV Pathogenic 520476 rs974510652 2:179416921-179416921 2:178552194-178552194
13 MYBPC3 NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) SNV Pathogenic 8608 rs121909374 11:47364129-47364129 11:47342578-47342578
14 LMNA NM_170707.4(LMNA):c.949G>A (p.Glu317Lys) SNV Pathogenic 48093 rs56816490 1:156105704-156105704 1:156135913-156135913
15 SCN5A NM_000335.4(SCN5A):c.3992del (p.Pro1331fs) Deletion Pathogenic 179338 rs727504801 3:38601888-38601888 3:38560397-38560397
16 TTN-AS1 NM_001267550.2(TTN):c.86799_86802del (p.Glu28935_Gly28936insTer) Deletion Pathogenic 179417 rs727504856 2:179424057-179424060 2:178559330-178559333
17 TTN-AS1 NM_001267550.2(TTN):c.93166C>T (p.Arg31056Ter) SNV Pathogenic 223326 rs72648250 2:179413187-179413187 2:178548460-178548460
18 TTN-AS1 NM_001267550.2(TTN):c.68449C>T (p.Arg22817Ter) SNV Pathogenic 165869 rs371678190 2:179442793-179442793 2:178578066-178578066
19 SCN5A NM_000335.5(SCN5A):c.1603C>T (p.Arg535Ter) SNV Pathogenic 517279 rs1417036453 3:38645490-38645490 3:38603999-38603999
20 MYH7 NM_000257.4(MYH7):c.2711G>A (p.Arg904His) SNV Pathogenic 42926 rs397516165 14:23893327-23893327 14:23424118-23424118
21 TTN-AS1 NM_001267550.2(TTN):c.91839dup (p.Val30614fs) Duplication Pathogenic 179692 rs730880365 2:179414725-179414726 2:178549998-178549999
22 MYBPC3 NM_000256.3(MYBPC3):c.551dup (p.Lys185fs) Duplication Pathogenic 42771 rs397516059 11:47371427-47371428 11:47349876-47349877
23 MYH7 NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) SNV Pathogenic 42901 rs3218716 14:23894525-23894525 14:23425316-23425316
24 LMNA NM_170707.4(LMNA):c.1494G>T (p.Trp498Cys) SNV Likely pathogenic 66838 rs57730570 1:156106909-156106909 1:156137118-156137118
25 TNNT2 NM_001276345.2(TNNT2):c.445C>T (p.Arg149Cys) SNV Likely pathogenic 43640 rs397516465 1:201333470-201333470 1:201364342-201364342
26 BAG3 NM_004281.4(BAG3):c.969_972del (p.Lys324fs) Deletion Likely pathogenic 684816 rs1589632398 10:121436032-121436035 10:119676520-119676523
27 TTN NM_001267550.2(TTN):c.42311_42314GAAA[1] (p.Lys14105fs) Microsatellite Likely pathogenic 242422 rs878854371 2:179499190-179499193 2:178634463-178634466
28 TNNT2 NM_001276345.2(TNNT2):c.490-1G>C SNV Likely pathogenic 181619 rs111344408 1:201332535-201332535 1:201363407-201363407
29 MYH7 NM_000257.4(MYH7):c.1549C>A (p.Leu517Met) SNV Likely pathogenic 177624 rs727504237 14:23897738-23897738 14:23428529-23428529
30 LMNA NM_170707.4(LMNA):c.1201C>T (p.Arg401Cys) SNV Likely pathogenic 48035 rs61094188 1:156106048-156106048 1:156136257-156136257
31 MYH7 NM_000257.4(MYH7):c.3578G>A (p.Arg1193His) SNV Likely pathogenic 42965 rs397516187 14:23889202-23889202 14:23419993-23419993
32 TTN-AS1 NM_001267550.2(TTN):c.103857G>A (p.Trp34619Ter) SNV Likely pathogenic 684869 rs1575253896 2:179397485-179397485 2:178532758-178532758
33 LMNA NM_170707.4(LMNA):c.296G>C (p.Arg99Pro) SNV Likely pathogenic 684819 rs1572332762 1:156085005-156085005 1:156115214-156115214
34 TTN-AS1 NM_001267550.2(TTN):c.65655del (p.Thr21886fs) Deletion Likely pathogenic 684807 rs1575948935 2:179447875-179447875 2:178583148-178583148
35 TTN NM_001267550.2(TTN):c.12268C>T (p.Gln4090Ter) SNV Likely pathogenic 684797 rs1574087037 2:179605692-179605692 2:178740965-178740965
36 TNNT2 NM_001276345.2(TNNT2):c.385G>C (p.Glu129Gln) SNV Likely pathogenic 684831 rs1571627006 1:201334345-201334345 1:201365217-201365217
37 DSP NM_004415.4(DSP):c.3466C>T (p.Gln1156Ter) SNV Likely pathogenic 684828 rs1581815654 6:7579889-7579889 6:7579656-7579656
38 EMD NM_000117.3(EMD):c.265+2T>A SNV Likely pathogenic 684827 rs1603365762 X:153608381-153608381 X:154380021-154380021
39 FLNC-AS1 NM_001458.4(FLNC):c.7385-1G>A SNV Likely pathogenic 684824 rs1585171818 7:128496798-128496798 7:128856744-128856744
40 RBM20 NM_001134363.3(RBM20):c.1907G>A (p.Arg636His) SNV Likely pathogenic 271 rs267607004 10:112572062-112572062 10:110812304-110812304
41 TTN-AS1 NM_001267550.2(TTN):c.104950del (p.Glu34984fs) Deletion Likely pathogenic 165639 rs727503533 2:179396392-179396392 2:178531665-178531665
42 TTN NM_001267550.2(TTN):c.12521_12522CA[1] (p.Gln4175fs) Microsatellite Likely pathogenic 684858 rs1574083547 2:179605436-179605437 2:178740709-178740710
43 LMNA NM_170707.4(LMNA):c.344A>T (p.Glu115Val) SNV Likely pathogenic 200932 rs794728588 1:156085053-156085053 1:156115262-156115262
44 TNNT2 NM_001276345.2(TNNT2):c.643C>T (p.Arg215Trp) SNV Likely pathogenic 180554 rs45586240 1:201331117-201331117 1:201361989-201361989
45 TTN-AS1 NM_001267550.2(TTN):c.89197+1G>C SNV Likely pathogenic 430269 rs1131691873 2:179418640-179418640 2:178553913-178553913
46 LMNA NM_170707.4(LMNA):c.725C>T (p.Ala242Val) SNV Likely pathogenic 48076 rs397517906 1:156104681-156104681 1:156134890-156134890
47 MYBPC3 NM_000256.3(MYBPC3):c.3771C>A (p.Asn1257Lys) SNV Likely pathogenic 181022 rs730880603 11:47353666-47353666 11:47332115-47332115
48 LMNA NM_170707.4(LMNA):c.274C>T (p.Leu92Phe) SNV Likely pathogenic 66885 rs267607560 1:156084983-156084983 1:156115192-156115192
49 TNNT2 NM_001276345.2(TNNT2):c.784G>A (p.Glu262Lys) SNV Likely pathogenic 178850 rs727504488 1:201330433-201330433 1:201361305-201361305
50 TTN-AS1 NM_001267550.2(TTN):c.69838C>T (p.Gln23280Ter) SNV Likely pathogenic 977738 2:179441021-179441021 2:178576294-178576294

Expression for Cardiomyopathy, Dilated, 1b

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

Pathways for Cardiomyopathy, Dilated, 1b

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.45 TTN TNNT2 SCN5A MYH6 MYBPC3
2
Show member pathways
12.21 TNNT2 SCN5A MYH7 MYH6
3 11.79 LMNA EMD DSP
4 11.48 TNNT2 MYH7 MYH6
5
Show member pathways
11.44 TTN TNNT2 MYH7 MYH6 MYBPC3 LMNA
6 11.18 SCN5A LMNA DSP
7 11.11 TTN TNNT2 MYH6 MYBPC3
8 11.06 TNNT2 SCN5A MYH6
9
Show member pathways
10.98 LMNA EMD

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 9.5 MYH7 MYH6 BAG3
2 muscle myosin complex GO:0005859 9.43 MYH7 MYH6
3 myofibril GO:0030016 9.43 TNNT2 MYH7 MYH6
4 striated muscle thin filament GO:0005865 9.4 TTN TNNT2
5 cardiac myofibril GO:0097512 9.37 TNNT2 MYBPC3
6 myosin filament GO:0032982 9.33 MYH7 MYH6 MYBPC3
7 sarcomere GO:0030017 9.26 TNNT2 MYH7 MYH6 MYBPC3
8 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 14)
# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.65 TTN TNNT2 MYH7 MYH6 EMD
2 sarcomere organization GO:0045214 9.58 TTN TNNT2 MYH6
3 regulation of heart contraction GO:0008016 9.54 TNNT2 MYH6
4 regulation of heart rate GO:0002027 9.54 SCN5A MYH7 MYH6
5 positive regulation of protein export from nucleus GO:0046827 9.52 EMD BAG3
6 regulation of the force of heart contraction GO:0002026 9.51 MYH7 MYH6
7 striated muscle contraction GO:0006941 9.5 TTN MYH7 MYH6
8 cardiac muscle hypertrophy in response to stress GO:0014898 9.49 MYH7 MYH6
9 adult heart development GO:0007512 9.48 MYH7 MYH6
10 mitotic nuclear envelope reassembly GO:0007084 9.46 LMNA EMD
11 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.46 TNNT2 MYH7 MYH6 MYBPC3
12 cardiac muscle fiber development GO:0048739 9.43 TTN MYH6
13 muscle filament sliding GO:0030049 9.35 TTN TNNT2 MYH7 MYH6 MYBPC3
14 cardiac muscle contraction GO:0060048 9.1 TTN TNNT2 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 microfilament motor activity GO:0000146 9.26 MYH7 MYH6
2 calmodulin binding GO:0005516 9.26 TTN SCN5A MYH7 MYH6
3 actin-dependent ATPase activity GO:0030898 9.16 MYH7 MYH6
4 actin binding GO:0003779 9.02 TNNT2 MYH7 MYH6 MYBPC3 EMD

Sources for Cardiomyopathy, Dilated, 1b

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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