Familial Isolated Dilated Cardiomyopathy disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: FML304 MIFTS: 38	Familial Isolated Dilated Cardiomyopathy Categories: Cardiovascular diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Familial Isolated Dilated Cardiomyopathy

MalaCards integrated aliases for Familial Isolated Dilated Cardiomyopathy:

Name: Familial Isolated Dilated Cardiomyopathy ⁵⁹ ⁶

Familial or Idiopathic Dilated Cardiomyopathy ⁵⁹

Characteristics:

Orphanet epidemiological data:

⁵⁹

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:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Cardiovascular diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the circulatory system

Other forms of heart disease

Cardiomyopathy

Dilated cardiomyopathy

External Ids:

Orphanet ⁵⁹ ORPHA154

UMLS via Orphanet ⁷⁴ C0340427

ICD10 via Orphanet ³⁴ I42.0

SNOMED-CT via HPO ⁶⁹ 60700002 706885006 195021004 more

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Summaries for Familial Isolated Dilated Cardiomyopathy

MalaCards based summary : Familial Isolated Dilated Cardiomyopathy, also known as familial or idiopathic dilated cardiomyopathy, is related to dilated cardiomyopathy and extracardiac rhabdomyoma. An important gene associated with Familial Isolated Dilated Cardiomyopathy is TNNT2 (Troponin T2, Cardiac Type), and among its related pathways/superpathways are Cardiac conduction and Aldosterone synthesis and secretion. Affiliated tissues include neutrophil, heart and smooth muscle, and related phenotypes are sensorineural hearing impairment and myopathy

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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 52)

#	Related Disease	Score	Top Affiliating Genes
1	dilated cardiomyopathy	29.5	ABCC9 ACTC1 CRYAB CSRP3 DES DMD
2	extracardiac rhabdomyoma	10.4	DES DMD
3	cytoplasmic body myopathy	10.4	DES DMD
4	familial isolated restrictive cardiomyopathy	10.4	TNNI3 TNNT2
5	cardioneuromyopathy with hyaline masses and nemaline rods	10.3	DES DMD TTN
6	microcolon	10.3	DES DMD
7	ovarian fibrothecoma	10.3	ACTC1 DES
8	fibroblastic rheumatism	10.3	ACTC1 DES
9	reducing body myopathy	10.3	DES DMD TTN
10	angiolipoma	10.3	ACTC1 DES
11	cardiomyopathy, dilated, 3b	10.3	DMD SGCD TAZ
12	myopathy, spheroid body	10.3	CRYAB DES TTN
13	cutaneous leiomyosarcoma	10.3	ACTC1 DES
14	cardiomyopathy, dilated, 1b	10.3	DMD FKTN
15	muscular dystrophy, limb-girdle, autosomal recessive 7	10.3	DMD TCAP TTN
16	botryoid rhabdomyosarcoma	10.3	ACTC1 DES
17	autosomal recessive limb-girdle muscular dystrophy	10.3	DMD SGCD TCAP
18	isolated hyperckemia	10.3	DMD TCAP
19	spindle cell lipoma	10.3	ACTC1 DES
20	glomangioma	10.3	ACTC1 DES
21	neuromuscular disease	10.3	DES DMD TTN
22	early-onset, autosomal dominant alzheimer disease	10.3	PSEN1 PSEN2
23	parachordoma	10.3	ACTC1 DES
24	muscle tissue disease	10.3	DMD FKTN SGCD
25	muscular dystrophy, congenital, lmna-related	10.3	DMD FKTN TTN
26	atrial heart septal defect	10.3	ACTC1 DMD TNNI3
27	ossifying fibromyxoid tumor	10.3	ACTC1 DES
28	muscular dystrophy, congenital, 1b	10.3	DMD FKTN
29	epithelioid leiomyosarcoma	10.3	ACTC1 DES
30	muscular dystrophy, limb-girdle, autosomal recessive 6	10.3	DMD SGCD TCAP TTN
31	autosomal recessive limb-girdle muscular dystrophy type 2c	10.3	DMD SGCD
32	cardiomyopathy, dilated, 1e	10.3	DES SCN5A TPM1 TTN
33	arrhythmogenic right ventricular cardiomyopathy	10.3	DES DMD SCN5A TTN
34	alzheimer disease 4	10.3	PSEN1 PSEN2
35	benign metastasizing leiomyoma	10.3	ACTC1 DES
36	myofibrillar myopathy	10.3	CRYAB DES DMD TCAP TTN
37	muscular disease	10.3	DMD FKTN SGCD TAZ TTN
38	muscular dystrophy, limb-girdle, autosomal recessive 8	10.3	TCAP TTN
39	cardiomyopathy, familial hypertrophic, 1	10.2	ACTC1 TNNI3 TNNT2 TPM1 TTN
40	limb-girdle muscular dystrophy	10.2	DMD FKTN SGCD TCAP TTN
41	familial idiopathic basal ganglia calcification	10.2	PSEN1 PSEN2
42	non-langerhans-cell histiocytosis	10.2	ACTC1 DES
43	muscular dystrophy	10.2	DES DMD FKTN SGCD TCAP TTN
44	pulmonary vein stenosis	10.2	ACTC1 DES
45	heart disease	10.2	ACTC1 SCN5A TAZ TNNI3 TNNT2 TTN
46	creatine phosphokinase, elevated serum	10.2	DMD TCAP
47	restrictive cardiomyopathy	10.2	ACTC1 CRYAB DES TNNI3 TNNT2 TPM1
48	atrial standstill 1	10.2	CSRP3 DES DMD SCN5A TAZ TNNI3
49	intrinsic cardiomyopathy	10.1	ACTC1 CSRP3 DMD SCN5A TNNI3 TNNT2
50	muscular dystrophy, congenital merosin-deficient, 1a	10.1	DMD FKTN

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

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Symptoms & Phenotypes for Familial Isolated Dilated Cardiomyopathy

Human phenotypes related to Familial Isolated Dilated Cardiomyopathy:

⁵⁹ ³² (show all 8)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	sensorineural hearing impairment ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000407
2	myopathy ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0003198
3	lipoatrophy ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0100578
4	elevated serum creatine phosphokinase ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0003236
5	emg abnormality ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0003457
6	palmoplantar keratoderma ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000982
7	dilated cardiomyopathy ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001644
8	abnormality of neutrophils ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001874

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

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability	GR00055-A-2	10.09	TPM1
2	Decreased viability	GR00221-A-2	10.09	TTN
3	Decreased viability	GR00221-A-4	10.09	TTN
4	Decreased viability	GR00240-S-1	10.09	TCAP
5	Decreased viability	GR00342-S-1	10.09	TTN
6	Decreased viability	GR00342-S-3	10.09	TTN
7	Decreased viability	GR00381-A-1	10.09	PPCS
8	Decreased viability	GR00402-S-2	10.09	ABCC9 ACTC1 CRYAB CSRP3 DES DMD
9	no effect	GR00402-S-1	9.62	ABCC9 ACTC1 CRYAB CSRP3 DES DMD

MGI Mouse Phenotypes related to Familial Isolated Dilated Cardiomyopathy:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cardiovascular system	MP:0005385	10.17	ABCC9 ACTC1 CSRP3 DES DMD PSEN1
2	behavior/neurological	MP:0005386	10.11	CRYAB DES DMD FKTN PSEN1 PSEN2
3	cellular	MP:0005384	10.03	ABCC9 ACTC1 CRYAB CSRP3 DES DMD
4	homeostasis/metabolism	MP:0005376	9.97	ABCC9 ACTC1 CSRP3 DES DMD FKTN
5	mortality/aging	MP:0010768	9.8	ABCC9 ACTC1 CSRP3 DES DMD FKTN
6	muscle	MP:0005369	9.47	ABCC9 ACTC1 CRYAB CSRP3 DES DMD

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Drugs & Therapeutics for Familial Isolated Dilated Cardiomyopathy

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

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Genetic Tests for Familial Isolated Dilated Cardiomyopathy

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Anatomical Context for Familial Isolated Dilated Cardiomyopathy

MalaCards organs/tissues related to Familial Isolated Dilated Cardiomyopathy:

⁴¹

Neutrophil, Heart, Smooth Muscle

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Publications for Familial Isolated Dilated Cardiomyopathy

Articles related to Familial Isolated Dilated Cardiomyopathy:

#	Title	Authors	Year
1	Autosomal recessive, familial, isolated dilated cardiomyopathy due to compound desmoplakin gene mutations. ( 30398466 )	Surmacz R...Bobkowski W	2018

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Genes for Familial Isolated Dilated Cardiomyopathy

Genes related to Familial Isolated Dilated Cardiomyopathy (43 elite genes):

(show all 43)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	TNNT2	Troponin T2, Cardiac Type	Protein Coding	750	Pathogenic ⁶ Causative germline mutation ⁵⁹
2	TAZ	Tafazzin	Protein Coding	350	Causative germline mutation ⁵⁹
3	DMD	Dystrophin	Protein Coding	350	Causative germline mutation ⁵⁹
4	DES	Desmin	Protein Coding	350	Causative germline mutation ⁵⁹
5	CSRP3	Cysteine And Glycine Rich Protein 3	Protein Coding	350	Causative germline mutation ⁵⁹
6	CRYAB	Crystallin Alpha B	Protein Coding	350	Causative germline mutation ⁵⁹
7	TTN	Titin	Protein Coding	350	Causative germline mutation ⁵⁹
8	TPM1	Tropomyosin 1	Protein Coding	350	Causative germline mutation ⁵⁹
9	TNNI3	Troponin I3, Cardiac Type	Protein Coding	350	Causative germline mutation ⁵⁹
10	TCAP	Titin-Cap	Protein Coding	350	Causative germline mutation ⁵⁹
11	SGCD	Sarcoglycan Delta	Protein Coding	350	Causative germline mutation ⁵⁹
12	FKTN	Fukutin	Protein Coding	350	Causative germline mutation ⁵⁹
13	SDHA	Succinate Dehydrogenase Complex Flavoprotein Subunit A	Protein Coding	350	Causative germline mutation ⁵⁹
14	SCN5A	Sodium Voltage-Gated Channel Alpha Subunit 5	Protein Coding	350	Causative germline mutation (gain of function) ⁵⁹
15	PSEN2	Presenilin 2	Protein Coding	350	Causative germline mutation ⁵⁹
16	PSEN1	Presenilin 1	Protein Coding	350	Causative germline mutation ⁵⁹
17	ACTC1	Actin, Alpha, Cardiac Muscle 1	Protein Coding	350	Causative germline mutation ⁵⁹
18	ABCC9	ATP Binding Cassette Subfamily C Member 9	Protein Coding	350	Causative germline mutation ⁵⁹
19	PPCS	Phosphopantothenoylcysteine Synthetase	Protein Coding	350	Causative germline mutation ⁵⁹
20	TAF1A	TATA-Box Binding Protein Associated Factor, RNA Polymerase I Subunit A	Protein Coding	350	Causative germline mutation ⁵⁹
21	DSG2	Desmoglein 2	Protein Coding	350	Causative germline mutation ⁵⁹
22	LDB3	LIM Domain Binding 3	Protein Coding	350	Causative germline mutation ⁵⁹
23	ANKRD1	Ankyrin Repeat Domain 1	Protein Coding	350	Causative germline mutation ⁵⁹
24	PLN	Phospholamban	Protein Coding	350	Causative germline mutation ⁵⁹
25	PRDM16	PR/SET Domain 16	Protein Coding	350	Causative germline mutation ⁵⁹
26	LAMA4	Laminin Subunit Alpha 4	Protein Coding	350	Causative germline mutation ⁵⁹
27	MYPN	Myopalladin	Protein Coding	350	Causative germline mutation ⁵⁹
28	GATAD1	GATA Zinc Finger Domain Containing 1	Protein Coding	350	Causative germline mutation ⁵⁹
29	TXNRD2	Thioredoxin Reductase 2	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁹
30	NEXN	Nexilin F-Actin Binding Protein	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁹
31	RBM20	RNA Binding Motif Protein 20	Protein Coding	350	Causative germline mutation ⁵⁹
32	BAG3	BCL2 Associated Athanogene 3	Protein Coding	350	Causative germline mutation ⁵⁹
33	FHL2	Four And A Half LIM Domains 2	Protein Coding	350	Causative germline mutation ⁵⁹
34	DOLK	Dolichol Kinase	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁹
35	ACTN2	Actinin Alpha 2	Protein Coding	350	Causative germline mutation ⁵⁹
36	VCL	Vinculin	Protein Coding	350	Causative germline mutation ⁵⁹
37	TNNC1	Troponin C1, Slow Skeletal And Cardiac Type	Protein Coding	350	Causative germline mutation ⁵⁹
38	TMPO	Thymopoietin	Protein Coding	350	Causative germline mutation ⁵⁹
39	RAF1	Raf-1 Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	350	Causative germline mutation ⁵⁹
40	MYH7	Myosin Heavy Chain 7	Protein Coding	350	Causative germline mutation ⁵⁹
41	MYH6	Myosin Heavy Chain 6	Protein Coding	350	Causative germline mutation ⁵⁹
42	MYBPC3	Myosin Binding Protein C, Cardiac	Protein Coding	350	Causative germline mutation ⁵⁹
43	NEBL	Nebulette	Protein Coding	25	Candidate gene tested ⁵⁹

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Variations for Familial Isolated Dilated Cardiomyopathy

ClinVar genetic disease variations for Familial Isolated Dilated Cardiomyopathy:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	TNNT2	NM_001001430.2(TNNT2): c.421C> T (p.Arg141Trp)	single nucleotide variant	Pathogenic	rs74315379	GRCh37	Chromosome 1, 201333464: 201333464
2	TNNT2	NM_001001430.2(TNNT2): c.421C> T (p.Arg141Trp)	single nucleotide variant	Pathogenic	rs74315379	GRCh38	Chromosome 1, 201364336: 201364336
3	DSG2	NM_001943.4(DSG2): c.1361A> C (p.Asp454Ala)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 18, 29115313: 29115313
4	DSG2	NM_001943.4(DSG2): c.1361A> C (p.Asp454Ala)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 18, 31535350: 31535350

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Expression for Familial Isolated Dilated Cardiomyopathy

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

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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	Cardiac conduction ⁶⁶ Show member pathways Classical Kir channels ⁶⁶ Ion homeostasis ⁶⁶ Ion transport by P-type ATPases ⁶⁶ Muscle contraction ⁶⁶ Phase 1 - inactivation of fast Na+ channels ⁶⁶ Phase 3 - rapid repolarisation ⁶⁶ Phase 4 - resting membrane potential ⁶⁶ Physiological factors ⁶⁶ Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK) ⁶⁶ Tandem pore domain halothane-inhibited K+ channel (THIK) ⁶⁶ Tandem pore domain potassium channels ⁶⁶ TWIK related potassium channel (TREK) ⁶⁶ TWIK-related alkaline pH activated K+ channel (TALK) ⁶⁶ TWIK-related spinal cord K+ channel (TRESK) ⁶⁶ TWIK-releated acid-sensitive K+ channel (TASK) ⁶⁶	12.54	ABCC9 DES DMD SCN5A TCAP TNNI3
2	Aldosterone synthesis and secretion ³⁷ Show member pathways Adrenergic signaling in cardiomyocytes ³⁷ Ca2+ activated K+ channels ⁶⁶ Cortisol synthesis and secretion ³⁷ Insulin secretion ³⁷ Thyroid hormone synthesis ³⁷	12.5	ACTC1 SCN5A TNNI3 TNNT2 TPM1
3	Cytoskeletal Signaling ⁴	12.25	ACTC1 DES TNNI3 TNNT2 TPM1
4	Dilated cardiomyopathy (DCM) ³⁷ Show member pathways Hypertrophic cardiomyopathy (HCM) ³⁷	11.8	ACTC1 DES DMD SGCD TNNI3 TNNT2
5	Cardiac muscle contraction ³⁷	11.51	ACTC1 TNNI3 TNNT2 TPM1
6	Cardiac Progenitor Differentiation ¹	11.28	ACTC1 SCN5A TNNI3 TNNT2
7	Striated Muscle Contraction ¹ ⁶⁶	11.08	ACTC1 DES DMD TCAP TNNI3 TNNT2
8	Notch Pathway ⁷²	10.1	PSEN1 PSEN2

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GO Terms for Familial Isolated Dilated Cardiomyopathy

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

(show all 11)

#	Name	GO ID	Score	Top Affiliating Genes
1	sarcolemma	GO:0042383	9.72	ABCC9 DES DMD SCN5A SGCD
2	myofibril	GO:0030016	9.67	DMD TNNI3 TNNT2 TPM1
3	contractile fiber	GO:0043292	9.58	CRYAB DES TNNI3
4	I band	GO:0031674	9.56	ACTC1 CRYAB TCAP TTN
5	Z disc	GO:0030018	9.56	CRYAB CSRP3 DES DMD PSEN2 SCN5A
6	dystrophin-associated glycoprotein complex	GO:0016010	9.49	DMD SGCD
7	striated muscle thin filament	GO:0005865	9.48	TNNT2 TTN
8	troponin complex	GO:0005861	9.46	TNNI3 TNNT2
9	cardiac myofibril	GO:0097512	9.46	CRYAB DES TNNI3 TNNT2
10	cardiac Troponin complex	GO:1990584	9.43	TNNI3 TNNT2
11	sarcomere	GO:0030017	9.23	ABCC9 ACTC1 CSRP3 TCAP TNNI3 TNNT2

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

(show all 29)

#	Name	GO ID	Score	Top Affiliating Genes
1	cellular calcium ion homeostasis	GO:0006874	9.8	CSRP3 PSEN1 TNNI3
2	muscle organ development	GO:0007517	9.77	CRYAB CSRP3 DMD FKTN SGCD
3	skeletal muscle tissue development	GO:0007519	9.74	CSRP3 DMD TAZ
4	regulation of heart contraction	GO:0008016	9.73	DES TNNT2 TPM1
5	skeletal muscle contraction	GO:0003009	9.71	TCAP TNNI3 TNNT2
6	sarcomere organization	GO:0045214	9.71	TCAP TNNT2 TPM1 TTN
7	ventricular cardiac muscle tissue morphogenesis	GO:0055010	9.7	TNNI3 TNNT2 TPM1
8	muscle contraction	GO:0006936	9.7	CRYAB DES TAZ TNNI3 TNNT2 TPM1
9	cardiac muscle tissue morphogenesis	GO:0055008	9.69	ACTC1 TCAP TTN
10	regulation of muscle contraction	GO:0006937	9.67	TNNI3 TNNT2 TPM1
11	heart contraction	GO:0060047	9.65	ACTC1 SGCD TNNI3
12	cardiac muscle contraction	GO:0060048	9.65	ACTC1 CSRP3 DMD SCN5A TAZ TCAP
13	cardiac muscle tissue development	GO:0048738	9.64	CSRP3 TAZ
14	cardiac muscle fiber development	GO:0048739	9.64	TCAP TTN
15	response to muscle stretch	GO:0035994	9.63	DMD TCAP
16	striated muscle contraction	GO:0006941	9.63	TNNI3 TTN
17	skeletal muscle thin filament assembly	GO:0030240	9.63	ACTC1 TCAP TTN
18	amyloid-beta metabolic process	GO:0050435	9.62	PSEN1 PSEN2
19	negative regulation of ATPase activity	GO:0032780	9.61	TNNI3 TNNT2
20	response to denervation involved in regulation of muscle adaptation	GO:0014894	9.61	DMD SCN5A
21	cardiac muscle hypertrophy	GO:0003300	9.61	CSRP3 TCAP TTN
22	skeletal muscle myosin thick filament assembly	GO:0030241	9.6	TCAP TTN
23	Notch receptor processing	GO:0007220	9.59	PSEN1 PSEN2
24	amyloid precursor protein catabolic process	GO:0042987	9.58	PSEN1 PSEN2
25	Notch receptor processing, ligand-dependent	GO:0035333	9.58	PSEN1 PSEN2
26	cardiac myofibril assembly	GO:0055003	9.56	ACTC1 CSRP3 TCAP TTN
27	sarcomerogenesis	GO:0048769	9.55	TCAP TTN
28	detection of muscle stretch	GO:0035995	9.5	CSRP3 TCAP TTN
29	muscle filament sliding	GO:0030049	9.23	ACTC1 DES DMD TCAP TNNI3 TNNT2

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

(show all 11)

#	Name	GO ID	Score	Top Affiliating Genes
1	ion channel binding	GO:0044325	9.67	ABCC9 SCN5A TCAP
2	structural constituent of cytoskeleton	GO:0005200	9.63	DES DMD TPM1
3	cytoskeletal protein binding	GO:0008092	9.58	CRYAB DES TPM1
4	actin binding	GO:0003779	9.55	CSRP3 DMD TNNI3 TNNT2 TPM1
5	aspartic-type endopeptidase activity	GO:0004190	9.48	PSEN1 PSEN2
6	nitric-oxide synthase binding	GO:0050998	9.43	DMD SCN5A
7	actinin binding	GO:0042805	9.37	CSRP3 TTN
8	aspartic endopeptidase activity, intramembrane cleaving	GO:0042500	9.32	PSEN1 PSEN2
9	telethonin binding	GO:0031433	9.26	CSRP3 TTN
10	structural constituent of muscle	GO:0008307	9.02	CSRP3 DMD TCAP TPM1 TTN
11	troponin C binding	GO:0030172	8.96	TNNI3 TNNT2

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Sources for Familial Isolated Dilated Cardiomyopathy

¹ BioSystems

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³ CDC

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²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

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⁴¹ MalaCards

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⁴⁸ NCBI Bookshelf

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⁵¹ NDF-RT

⁵² NIH Clinical Center

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⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

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⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia