Cardiomyopathy, Familial Hypertrophic, 12 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

CMH12 MCID: CRD081 MIFTS: 34	Cardiomyopathy, Familial Hypertrophic, 12 (CMH12) Categories: Cardiovascular diseases, Genetic diseases, Rare diseases
Genes Variations Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

Sources

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 12

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 12:

Name: Cardiomyopathy, Familial Hypertrophic, 12 ⁵⁷ ¹³ ⁷⁰

Cmh12 ⁵⁷ ¹² ⁷²

Familial Hypertrophic Cardiomyopathy 12 ²⁹ ⁶

Cardiomyopathy, Hypertrophic, 12 ⁵⁷ ²⁹

Hypertrophic Cardiomyopathy 12 ¹² ¹⁵

Cardiomyopathy, Hypertrophic, Familial, Type 12 ³⁹

Cardiomyopathy, Familial Hypertrophic 12 ⁷²

Cardiomyopathy Familial Hypertrophic 12 ¹²

Characteristics:

OMIM®:

⁵⁷ (Updated 20-May-2021)

Inheritance:
autosomal dominant

Miscellaneous:
great variation in extent of hypertrophy in mutation-positive individuals

HPO:

³¹

cardiomyopathy, familial hypertrophic, 12:
Inheritance autosomal dominant inheritance

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0110318

OMIM® ⁵⁷ 612124

OMIM Phenotypic Series ⁵⁷ PS192600

MeSH ⁴⁴ D024741

MedGen ⁴¹ C2677491 CN029460

SNOMED-CT via HPO ⁶⁸ 25569003 263681008 282825002 more

UMLS ⁷⁰ C2677491

Sources

Summaries for Cardiomyopathy, Familial Hypertrophic, 12

UniProtKB/Swiss-Prot : ⁷² Cardiomyopathy, familial hypertrophic 12: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.

MalaCards based summary : Cardiomyopathy, Familial Hypertrophic, 12, also known as cmh12, is related to dermatitis, atopic. An important gene associated with Cardiomyopathy, Familial Hypertrophic, 12 is CSRP3 (Cysteine And Glycine Rich Protein 3), and among its related pathways/superpathways are Defensins and NOD-like receptor signaling pathway. Related phenotypes are sudden cardiac death and cardiomyopathy

Disease Ontology : ¹² A familial hypertrophic cardiomyopathy that has material basis in heterozygous mutation in the CSRP3 gene on chromosome 11p15.

More information from OMIM: 612124 PS192600

Sources

Related Diseases for Cardiomyopathy, Familial Hypertrophic, 12

Diseases in the Hypertrophic Cardiomyopathy family:

Cardiomyopathy, Familial Hypertrophic, 2	Cardiomyopathy, Familial Hypertrophic, 3
Cardiomyopathy, Familial Hypertrophic, 4	Cardiomyopathy, Familial Hypertrophic, 1
Cardiomyopathy, Infantile Hypertrophic	Cardiomyopathy, Familial Hypertrophic, 6
Cardiomyopathy, Familial Hypertrophic, 25	Cardiomyopathy, Familial Hypertrophic, 8
Cardiomyopathy, Familial Hypertrophic, 10	Cardiomyopathy, Familial Hypertrophic, 11
Cardiomyopathy, Familial Hypertrophic, 12	Cardiomyopathy, Familial Hypertrophic, 13
Cardiomyopathy, Familial Hypertrophic, 14	Cardiomyopathy, Familial Hypertrophic, 15
Cardiomyopathy, Familial Hypertrophic, 7	Cardiomyopathy, Familial Hypertrophic, 9
Cardiomyopathy, Familial Hypertrophic, 16	Cardiomyopathy, Familial Hypertrophic, 17
Cardiomyopathy, Familial Hypertrophic, 18	Cardiomyopathy, Familial Hypertrophic, 20
Cardiomyopathy, Familial Hypertrophic, 21	Cardiomyopathy, Familial Hypertrophic, 26
Cardiomyopathy, Familial Hypertrophic 27	Hypertrophic Cardiomyopathy Due to Intensive Athletic Training
Rare Familial Disorder with Hypertrophic Cardiomyopathy

Diseases related to Cardiomyopathy, Familial Hypertrophic, 12 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	dermatitis, atopic	9.4	DEFB103B DEFB103A

Sources

Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 12

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 12:

³¹

#	Description	HPO Source Accession
1	sudden cardiac death ³¹	HP:0001645
2	cardiomyopathy ³¹	HP:0001638
3	paroxysmal atrial fibrillation ³¹	HP:0004757
4	ventricular tachycardia ³¹	HP:0004756

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 20-May-2021)

Cardiovascular Heart:
sudden cardiac death
hypertrophy, asymmetric septal (variable)
hypertrophy, concentric (variable)
tachycardia, ventricular
fibrillation, paroxysmal atrial

Clinical features from OMIM®:

612124 (Updated 20-May-2021)

Sources

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 12

Search Clinical Trials , NIH Clinical Center for Cardiomyopathy, Familial Hypertrophic, 12

Sources

Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 12

Genetic tests related to Cardiomyopathy, Familial Hypertrophic, 12:

#	Genetic test	Affiliating Genes
1	Familial Hypertrophic Cardiomyopathy 12 ²⁹	CSRP3
2	Cardiomyopathy, Hypertrophic, 12 ²⁹

Sources

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 12

Sources

Publications for Cardiomyopathy, Familial Hypertrophic, 12

Articles related to Cardiomyopathy, Familial Hypertrophic, 12:

(show all 16)

#	Title	Authors	PMID	Year
1	Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy. ⁶ ⁵⁷	Geier C...Ozcelik C	18505755	2008
2	Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy. ⁶ ⁵⁷	Geier C...Osterziel KJ	12642359	2003
3	Mutant Muscle LIM Protein C58G causes cardiomyopathy through protein depletion. ⁶	Ehsan M...Gehmlich K	30048712	2018
4	MLP and CARP are linked to chronic PKCα signalling in dilated cardiomyopathy. ⁶	Lange S...Ehler E	27353086	2016
5	Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. ⁶	Lopes LR...Elliott PM	25351510	2015
6	Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing. ⁶	Lopes LR...Elliott PM	23396983	2013
7	Genetic diagnosis of hypertrophic cardiomyopathy using mass spectrometry DNA arrays and high resolution melting. ⁶	Santos S...Fernandes AR	21425739	2011
8	Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin. ⁶	Bos JM...Ackerman MJ	16352453	2006
9	Non-invasive detection of exercise-induced cardiac conduction abnormalities in sudden cardiac death survivors in the inherited cardiac conditions. ⁶¹	Leong KMW...Kanagaratnam P	33083839	2021
10	Perceptions of Risk of Cardiac Arrest in Individuals Living With a Cardiac Inherited Disease: Are the Doctor and the Patient on the Same Page? ⁶¹	O'Donovan CE...Broadbent E	31501048	2020
11	Pathology of sudden death during recreational sports in Spain. ⁶¹	Suarez-Mier MP...Sanchez-de-Leon MS	23398926	2013
12	Relaxation in hypertrophic cardiomyopathy and hypertensive heart disease: relations between hypertrophy and diastolic function. ⁶¹	De Marchi SF...Seiler C	10814629	2000
13	[Multiple cavities in myocardium of left ventricle after irradiation therapy for breast cancer: a case report]. ⁶¹	Miyake S...Yutani C	10500975	1999
14	Coronary artery dimensions in primary and secondary left ventricular hypertrophy. ⁶¹	Kaufmann P...Hess OM	8772766	1996
15	Amiodarone reduces QT dispersion in patients with hypertrophic cardiomyopathy. ⁶¹	Dritsas A...Oakley CM	1428268	1992
16	High-energy phosphate metabolism of the myocardium in normal subjects and patients with various cardiomyopathies--the study using ECG gated MR spectroscopy with a localization technique. ⁶¹	Masuda Y...Inagaki Y	1625368	1992

Sources

Genes for Cardiomyopathy, Familial Hypertrophic, 12

Genes related to Cardiomyopathy, Familial Hypertrophic, 12 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	CSRP3	Cysteine And Glycine Rich Protein 3	Protein Coding	1341.79	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² Genetic Tests ²⁹ Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	12642359 18505755
2	DEFB103A	Defensin Beta 103A	Protein Coding	5.62	DISEASES inferred ¹⁵
3	DEFB103B	Defensin Beta 103B	Protein Coding	5.62	DISEASES inferred ¹⁵
4	TNFRSF17	TNF Receptor Superfamily Member 17	Protein Coding	5.58	DISEASES inferred ¹⁵

Sources

Variations for Cardiomyopathy, Familial Hypertrophic, 12

ClinVar genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 12:

⁶ (show top 50) (show all 156)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	CSRP3	NM_003476.5(CSRP3):c.136A>C (p.Ser46Arg)	SNV	Pathogenic	8781	rs137852765	GRCh37: 11:19209828-19209828 GRCh38: 11:19188281-19188281
2	CSRP3	NM_003476.5(CSRP3):c.172T>G (p.Cys58Gly)	SNV	Pathogenic	8777	rs104894204	GRCh37: 11:19209792-19209792 GRCh38: 11:19188245-19188245
3	CSRP3	NM_003476.5(CSRP3):c.131T>C (p.Leu44Pro)	SNV	Pathogenic	8778	rs104894205	GRCh37: 11:19209833-19209833 GRCh38: 11:19188286-19188286
4	CSRP3	NM_003476.5(CSRP3):c.415-2A>C	SNV	Pathogenic	998301		GRCh37: 11:19206594-19206594 GRCh38: 11:19185047-19185047
5	CSRP3	NM_003476.5(CSRP3):c.160_164delinsAGGGG (p.Ser54_Glu55delinsArgGly)	Indel	Pathogenic	8779	rs281865416	GRCh37: 11:19209800-19209804 GRCh38: 11:19188253-19188257
6	CSRP3	NM_003476.5(CSRP3):c.131T>C (p.Leu44Pro)	SNV	Pathogenic/Likely pathogenic	8778	rs104894205	GRCh37: 11:19209833-19209833 GRCh38: 11:19188286-19188286
7	CSRP3	NM_003476.5(CSRP3):c.536C>T (p.Thr179Met)	SNV	Likely pathogenic	163007	rs142019584	GRCh37: 11:19204266-19204266 GRCh38: 11:19182719-19182719
8	CSRP3	NM_003476.5(CSRP3):c.449G>A (p.Cys150Tyr)	SNV	Likely pathogenic	219444	rs761507504	GRCh37: 11:19206558-19206558 GRCh38: 11:19185011-19185011
9	CSRP3	NM_003476.5(CSRP3):c.128del (p.Ala43fs)	Deletion	Likely pathogenic	847161		GRCh37: 11:19209836-19209836 GRCh38: 11:19188289-19188289
10	CSRP3	NM_003476.5(CSRP3):c.298C>T (p.Arg100Cys)	SNV	Uncertain significance	851709		GRCh37: 11:19207879-19207879 GRCh38: 11:19186332-19186332
11	CSRP3	NM_003476.5(CSRP3):c.174C>T (p.Cys58=)	SNV	Uncertain significance	381101	rs1057520959	GRCh37: 11:19209790-19209790 GRCh38: 11:19188243-19188243
12	CSRP3	NM_003476.5(CSRP3):c.455_456AG[1] (p.Leu154fs)	Microsatellite	Uncertain significance	855956		GRCh37: 11:19206549-19206550 GRCh38: 11:19185002-19185003
13	CSRP3	NM_003476.5(CSRP3):c.286C>T (p.Pro96Ser)	SNV	Uncertain significance	858415		GRCh37: 11:19207891-19207891 GRCh38: 11:19186344-19186344
14	CSRP3	NM_003476.5(CSRP3):c.17G>A (p.Gly6Glu)	SNV	Uncertain significance	859311		GRCh37: 11:19213979-19213979 GRCh38: 11:19192432-19192432
15	CSRP3	NM_003476.5(CSRP3):c.228C>T (p.Gly76=)	SNV	Uncertain significance	861575		GRCh37: 11:19209736-19209736 GRCh38: 11:19188189-19188189
16	CSRP3	NM_003476.5(CSRP3):c.284C>T (p.Ser95Phe)	SNV	Uncertain significance	863545		GRCh37: 11:19207893-19207893 GRCh38: 11:19186346-19186346
17	CSRP3	NM_003476.5(CSRP3):c.436C>T (p.Arg146Cys)	SNV	Uncertain significance	426380	rs376198883	GRCh37: 11:19206571-19206571 GRCh38: 11:19185024-19185024
18	CSRP3	NC_000011.10:g.(?_19184942)_(19188314_?)del	Deletion	Uncertain significance	831881		GRCh37: 11:19206489-19209861 GRCh38:
19	CSRP3	NM_003476.5(CSRP3):c.415-1G>A	SNV	Uncertain significance	834445		GRCh37: 11:19206593-19206593 GRCh38: 11:19185046-19185046
20	CSRP3	NM_003476.5(CSRP3):c.127G>T (p.Ala43Ser)	SNV	Uncertain significance	835944		GRCh37: 11:19209837-19209837 GRCh38: 11:19188290-19188290
21	CSRP3	NM_003476.5(CSRP3):c.112+1G>A	SNV	Uncertain significance	222534	rs746990436	GRCh37: 11:19213883-19213883 GRCh38: 11:19192336-19192336
22	CSRP3	NM_003476.5(CSRP3):c.514T>C (p.Tyr172His)	SNV	Uncertain significance	836572		GRCh37: 11:19204288-19204288 GRCh38: 11:19182741-19182741
23	CSRP3	NM_003476.5(CSRP3):c.369T>A (p.Cys123Ter)	SNV	Uncertain significance	836666		GRCh37: 11:19207808-19207808 GRCh38: 11:19186261-19186261
24	CSRP3	NM_003476.5(CSRP3):c.354G>C (p.Glu118Asp)	SNV	Uncertain significance	228543	rs876657767	GRCh37: 11:19207823-19207823 GRCh38: 11:19186276-19186276
25	CSRP3	NM_003476.5(CSRP3):c.518C>T (p.Ala173Val)	SNV	Uncertain significance	842508		GRCh37: 11:19204284-19204284 GRCh38: 11:19182737-19182737
26	CSRP3	NM_003476.5(CSRP3):c.445A>T (p.Ile149Phe)	SNV	Uncertain significance	846160		GRCh37: 11:19206562-19206562 GRCh38: 11:19185015-19185015
27	CSRP3 , CSRP3-AS1	NC_000011.10:g.19210543G>A	SNV	Uncertain significance	877187		GRCh37: 11:19232090-19232090 GRCh38: 11:19210543-19210543
28	CSRP3	NM_003476.5(CSRP3):c.*559G>A	SNV	Uncertain significance	878158		GRCh37: 11:19203658-19203658 GRCh38: 11:19182111-19182111
29	CSRP3	NM_003476.5(CSRP3):c.*415A>G	SNV	Uncertain significance	878159		GRCh37: 11:19203802-19203802 GRCh38: 11:19182255-19182255
30	CSRP3	NM_003476.5(CSRP3):c.*292A>T	SNV	Uncertain significance	878160		GRCh37: 11:19203925-19203925 GRCh38: 11:19182378-19182378
31	CSRP3	NM_003476.5(CSRP3):c.299G>A (p.Arg100His)	SNV	Uncertain significance	44694	rs138218523	GRCh37: 11:19207878-19207878 GRCh38: 11:19186331-19186331
32	CSRP3	NM_003476.5(CSRP3):c.282-15G>C	SNV	Uncertain significance	879980		GRCh37: 11:19207910-19207910 GRCh38: 11:19186363-19186363
33	CSRP3	NM_003476.5(CSRP3):c.265G>A (p.Gly89Ser)	SNV	Uncertain significance	163012	rs367827746	GRCh37: 11:19209699-19209699 GRCh38: 11:19188152-19188152
34	CSRP3	NM_003476.5(CSRP3):c.221G>A (p.Gly74Glu)	SNV	Uncertain significance	879981		GRCh37: 11:19209743-19209743 GRCh38: 11:19188196-19188196
35	CSRP3	NM_003476.5(CSRP3):c.214G>T (p.Gly72Trp)	SNV	Uncertain significance	879982		GRCh37: 11:19209750-19209750 GRCh38: 11:19188203-19188203
36	CSRP3	NM_003476.5(CSRP3):c.162G>A (p.Ser54=)	SNV	Uncertain significance	137035	rs112848043	GRCh37: 11:19209802-19209802 GRCh38: 11:19188255-19188255
37	CSRP3	NM_003476.5(CSRP3):c.-28-17G>T	SNV	Uncertain significance	930263		GRCh37: 11:19214040-19214040 GRCh38: 11:19192493-19192493
38	CSRP3	NM_003476.5(CSRP3):c.149C>A (p.Ala50Glu)	SNV	Uncertain significance	934985		GRCh37: 11:19209815-19209815 GRCh38: 11:19188268-19188268
39	CSRP3	NM_003476.5(CSRP3):c.168C>G (p.Ile56Met)	SNV	Uncertain significance	944590		GRCh37: 11:19209796-19209796 GRCh38: 11:19188249-19188249
40	CSRP3	NM_003476.5(CSRP3):c.409G>T (p.Gly137Cys)	SNV	Uncertain significance	950593		GRCh37: 11:19207768-19207768 GRCh38: 11:19186221-19186221
41	CSRP3	NM_003476.5(CSRP3):c.93C>G (p.His31Gln)	SNV	Uncertain significance	217825	rs863225265	GRCh37: 11:19213903-19213903 GRCh38: 11:19192356-19192356
42	CSRP3	NM_003476.5(CSRP3):c.265G>T (p.Gly89Cys)	SNV	Uncertain significance	958665		GRCh37: 11:19209699-19209699 GRCh38: 11:19188152-19188152
43	CSRP3	NM_003476.5(CSRP3):c.149C>T (p.Ala50Val)	SNV	Uncertain significance	960236		GRCh37: 11:19209815-19209815 GRCh38: 11:19188268-19188268
44	CSRP3	NM_003476.5(CSRP3):c.285C>A (p.Ser95=)	SNV	Uncertain significance	962276		GRCh37: 11:19207892-19207892 GRCh38: 11:19186345-19186345
45	CSRP3	NM_003476.5(CSRP3):c.311C>T (p.Thr104Ile)	SNV	Uncertain significance	963688		GRCh37: 11:19207866-19207866 GRCh38: 11:19186319-19186319
46	CSRP3	NM_003476.5(CSRP3):c.459T>A (p.Ser153Arg)	SNV	Uncertain significance	963816		GRCh37: 11:19206548-19206548 GRCh38: 11:19185001-19185001
47	CSRP3	NM_003476.5(CSRP3):c.116C>G (p.Ala39Gly)	SNV	Uncertain significance	968411		GRCh37: 11:19209848-19209848 GRCh38: 11:19188301-19188301
48	CSRP3	NM_003476.5(CSRP3):c.562_564CAA[1] (p.Gln189del)	Microsatellite	Uncertain significance	451189	rs1173035411	GRCh37: 11:19204235-19204237 GRCh38: 11:19182688-19182690
49	CSRP3	NM_003476.5(CSRP3):c.22G>A (p.Ala8Thr)	SNV	Uncertain significance	404174	rs45531937	GRCh37: 11:19213974-19213974 GRCh38: 11:19192427-19192427
50	CSRP3	NM_003476.5(CSRP3):c.151G>T (p.Ala51Ser)	SNV	Uncertain significance	1005786		GRCh37: 11:19209813-19209813 GRCh38: 11:19188266-19188266

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 12:

⁷²

#	Symbol	AA change	Variation ID	SNP ID
1	CSRP3	p.Leu44Pro	VAR_045932	rs104894205
2	CSRP3	p.Cys58Gly	VAR_045934	rs104894204

Sources

Expression for Cardiomyopathy, Familial Hypertrophic, 12

Search GEO for disease gene expression data for Cardiomyopathy, Familial Hypertrophic, 12.

Sources

Pathways for Cardiomyopathy, Familial Hypertrophic, 12

Pathways related to Cardiomyopathy, Familial Hypertrophic, 12 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Defensins ⁶⁵ Show member pathways Alpha-defensins ⁶⁵ Antimicrobial peptides ⁶⁵ Beta defensins ⁶⁵ Ion influx/efflux at host-pathogen interface ⁶⁵ Metal sequestration by antimicrobial proteins ⁶⁵	11.49	DEFB103B DEFB103A
2	NOD-like receptor signaling pathway ³⁶	11.21	DEFB103B DEFB103A
3	Staphylococcus aureus infection ³⁶	10.61	DEFB103B DEFB103A

Sources

GO Terms for Cardiomyopathy, Familial Hypertrophic, 12

Cellular components related to Cardiomyopathy, Familial Hypertrophic, 12 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	Golgi lumen	GO:0005796	8.62	DEFB103B DEFB103A

Biological processes related to Cardiomyopathy, Familial Hypertrophic, 12 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	defense response to bacterium	GO:0042742	9.46	DEFB103B DEFB103A
2	defense response	GO:0006952	9.43	DEFB103B DEFB103A
3	defense response to Gram-positive bacterium	GO:0050830	9.4	DEFB103B DEFB103A
4	cell chemotaxis	GO:0060326	9.37	DEFB103B DEFB103A
5	defense response to Gram-negative bacterium	GO:0050829	9.32	DEFB103B DEFB103A
6	antimicrobial humoral response	GO:0019730	9.26	DEFB103B DEFB103A
7	positive chemotaxis	GO:0050918	9.16	DEFB103B DEFB103A
8	killing of cells of other organism	GO:0031640	8.96	DEFB103B DEFB103A
9	killing by host of symbiont cells	GO:0051873	8.62	DEFB103B DEFB103A

Molecular functions related to Cardiomyopathy, Familial Hypertrophic, 12 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	chemoattractant activity	GO:0042056	8.96	DEFB103B DEFB103A
2	CCR6 chemokine receptor binding	GO:0031731	8.62	DEFB103B DEFB103A

Sources

Sources for Cardiomyopathy, Familial Hypertrophic, 12

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 20-May-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Cardiomyopathy, Familial Hypertrophic, 12 (CMH12)

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 12

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 12:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Cardiomyopathy, Familial Hypertrophic, 12

Related Diseases for Cardiomyopathy, Familial Hypertrophic, 12

Diseases in the Hypertrophic Cardiomyopathy family:

Diseases related to Cardiomyopathy, Familial Hypertrophic, 12 via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 12

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 12:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 12

Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 12

Genetic tests related to Cardiomyopathy, Familial Hypertrophic, 12:

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 12

Publications for Cardiomyopathy, Familial Hypertrophic, 12

Articles related to Cardiomyopathy, Familial Hypertrophic, 12:

Genes for Cardiomyopathy, Familial Hypertrophic, 12

Genes related to Cardiomyopathy, Familial Hypertrophic, 12 (1 elite genes):

Variations for Cardiomyopathy, Familial Hypertrophic, 12

ClinVar genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 12:

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 12:

Expression for Cardiomyopathy, Familial Hypertrophic, 12

Pathways for Cardiomyopathy, Familial Hypertrophic, 12

Pathways related to Cardiomyopathy, Familial Hypertrophic, 12 according to GeneCards Suite gene sharing:

GO Terms for Cardiomyopathy, Familial Hypertrophic, 12

Cellular components related to Cardiomyopathy, Familial Hypertrophic, 12 according to GeneCards Suite gene sharing:

Biological processes related to Cardiomyopathy, Familial Hypertrophic, 12 according to GeneCards Suite gene sharing:

Molecular functions related to Cardiomyopathy, Familial Hypertrophic, 12 according to GeneCards Suite gene sharing:

Sources for Cardiomyopathy, Familial Hypertrophic, 12