Cardiomyopathy, Dilated, 1b disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Cardiovascular diseases Immune diseases Neuronal diseases Bone diseases Ear diseases Muscle diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Diseases of the circulatory system

Other forms of heart disease

Cardiomyopathy

Dilated cardiomyopathy

External Ids:

Disease Ontology ¹² DOID:0110443

OMIM® ⁵⁷ 600884

OMIM Phenotypic Series ⁵⁷ PS115200

ICD10 ³² I42.0

MedGen ⁴¹ C0340427

UMLS ⁷¹ C0340427

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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

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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:

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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

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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

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Genetic Tests for Cardiomyopathy, Dilated, 1b

Genetic tests related to Cardiomyopathy, Dilated, 1b:

#	Genetic test	Affiliating Genes
1	Dilated Cardiomyopathy 1b ²⁹

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Anatomical Context for Cardiomyopathy, Dilated, 1b

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

⁴⁰

Heart

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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	Krajinovic M...Mestroni L	7573045	1995
2	Idiopathic dilated cardiomyopathy. ⁵⁷	Dec GW...Fuster V	7969328	1994
3	Clinical genetics of dilated cardiomyopathy. ⁵⁷	Keeling PJ...McKenna WJ	8194837	1994
4	The frequency of familial dilated cardiomyopathy in a series of patients with idiopathic dilated cardiomyopathy. ⁵⁷	Michels VV...Tazelaar HD	1727235	1992
5	Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects. ⁶¹	Reed UC	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	Triki C...Ayadi H	12467726	2003
7	Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42. ⁶¹	Brockington M...Muntoni F	10677302	2000

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Genes for Cardiomyopathy, Dilated, 1b

Genes related to Cardiomyopathy, Dilated, 1b (8 elite genes):

(show all 14)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	BAG3	BAG Cochaperone 3	Protein Coding	425	Pathogenic ⁶ Likely pathogenic ⁶
2	LMNA	Lamin A/C	Protein Coding	425	Pathogenic ⁶ Likely pathogenic ⁶
3	MYBPC3	Myosin Binding Protein C3	Protein Coding	425	Pathogenic ⁶ Likely pathogenic ⁶
4	MYH7	Myosin Heavy Chain 7	Protein Coding	425	Pathogenic ⁶ Likely pathogenic ⁶
5	TTN-AS1	TTN Antisense RNA 1	RNA Gene	425	Pathogenic ⁶ Likely pathogenic ⁶
6	MYH6	Myosin Heavy Chain 6	Protein Coding	400	Pathogenic ⁶
7	SCN5A	Sodium Voltage-Gated Channel Alpha Subunit 5	Protein Coding	400	Pathogenic ⁶
8	CMD1B	Cardiomyopathy, Dilated 1B (Autosomal Dominant)	Genetic Locus	58.5	Genetic linkage ⁵⁷ GeneCards inferred via : Gene name (show sections)
9	DSP	Desmoplakin	Protein Coding	25	Likely pathogenic ⁶
10	EMD	Emerin	Protein Coding	25	Likely pathogenic ⁶
11	FLNC-AS1	FLNC Antisense RNA 1	RNA Gene	25	Likely pathogenic ⁶
12	RBM20	RNA Binding Motif Protein 20	Protein Coding	25	Likely pathogenic ⁶
13	TNNT2	Troponin T2, Cardiac Type	Protein Coding	25	Likely pathogenic ⁶
14	TTN	Titin	Protein Coding	25	Likely pathogenic ⁶

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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

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Expression for Cardiomyopathy, Dilated, 1b

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

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Pathways for Cardiomyopathy, Dilated, 1b

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

#	Super pathways	Score	Top Affiliating Genes
1	Cardiac conduction ⁶⁵ Show member pathways Classical Kir channels ⁶⁵ Ion homeostasis ⁶⁵ Ion transport by P-type ATPases ⁶⁵ Muscle contraction ⁶⁵ Phase 1 - inactivation of fast Na+ channels ⁶⁵ Phase 3 - rapid repolarisation ⁶⁵ Phase 4 - resting membrane potential ⁶⁵ Physiological factors ⁶⁵ Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK) ⁶⁵ Tandem pore domain halothane-inhibited K+ channel (THIK) ⁶⁵ Tandem pore domain potassium channels ⁶⁵ TWIK related potassium channel (TREK) ⁶⁵ TWIK-related alkaline pH activated K+ channel (TALK) ⁶⁵ TWIK-related spinal cord K+ channel (TRESK) ⁶⁵ TWIK-releated acid-sensitive K+ channel (TASK) ⁶⁵	12.45	TTN TNNT2 SCN5A MYH6 MYBPC3
2	cGMP-PKG signaling pathway ³⁶ Show member pathways Adrenergic signaling in cardiomyocytes ³⁶	12.21	TNNT2 SCN5A MYH7 MYH6
3	Arrhythmogenic right ventricular cardiomyopathy ³⁶ ¹	11.79	LMNA EMD DSP
4	Cardiac muscle contraction ³⁶	11.48	TNNT2 MYH7 MYH6
5	Dilated cardiomyopathy ³⁶ Show member pathways Hypertrophic cardiomyopathy ³⁶	11.44	TTN TNNT2 MYH7 MYH6 MYBPC3 LMNA
6	Antiarrhythmic Pathway, Pharmacodynamics ⁶⁰	11.18	SCN5A LMNA DSP
7	Striated Muscle Contraction ⁶⁵ ¹	11.11	TTN TNNT2 MYH6 MYBPC3
8	Cardiac Progenitor Differentiation ¹	11.06	TNNT2 SCN5A MYH6
9	Initiation of Nuclear Envelope Reformation ⁶⁵ Show member pathways Clearance of Nuclear Envelope Membranes from Chromatin ⁶⁵ Nuclear Envelope Reassembly ⁶⁵	10.98	LMNA EMD

Sources

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

Sources for Cardiomyopathy, Dilated, 1b

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⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Cardiomyopathy, Dilated, 1b (CMD1B)

Aliases & Classifications for Cardiomyopathy, Dilated, 1b

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1b:

Characteristics:

OMIM®:

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Related Diseases for Cardiomyopathy, Dilated, 1b

Diseases in the Rare Cardiomyopathy family:

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Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1b

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Genes related to Cardiomyopathy, Dilated, 1b (8 elite genes):

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Expression for Cardiomyopathy, Dilated, 1b

Pathways for Cardiomyopathy, Dilated, 1b

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

GO Terms for Cardiomyopathy, Dilated, 1b

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

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

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

Sources for Cardiomyopathy, Dilated, 1b