Cardiomyopathy, Familial Hypertrophic, 26 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

CMH26 MCID: CRD222 MIFTS: 37	Cardiomyopathy, Familial Hypertrophic, 26 (CMH26) Categories: Cardiovascular diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 26

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 26:

Name: Cardiomyopathy, Familial Hypertrophic, 26 ⁵⁷ ²⁹ ⁶

Cmh26 ⁵⁷ ¹² ⁷²

Cardiomyopathy, Familial Restrictive, 5 ²⁹ ⁶

Cardiomyopathy, Familial Restrictive 5 ⁵⁷ ⁷²

Hypertrophic Cardiomyopathy 26 ¹² ¹⁵

Cardiomyopathy, Familial Hypertrophic 26 ⁷²

Cardiomyopathy Familial Hypertrophic 26 ¹²

Rcm5 ⁷²

Characteristics:

OMIM®:

⁵⁷ (Updated 20-May-2021)

Inheritance:
autosomal dominant

Miscellaneous:
some affected individuals are asymptomatic

HPO:

³¹

cardiomyopathy, familial hypertrophic, 26:
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:0110327

OMIM® ⁵⁷ 617047

OMIM Phenotypic Series ⁵⁷ PS115210 PS192600

MeSH ⁴⁴ D002313 D024741

MedGen ⁴¹ C4310749 CN237810 CN237821

SNOMED-CT via HPO ⁶⁸ 230145002 263681008 267036007 more

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Summaries for Cardiomyopathy, Familial Hypertrophic, 26

UniProtKB/Swiss-Prot : ⁷² Cardiomyopathy, familial hypertrophic 26: 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.
Cardiomyopathy, familial restrictive 5: A heart disorder characterized by impaired filling of the ventricles with reduced diastolic volume, in the presence of normal or near normal wall thickness and systolic function.

MalaCards based summary : Cardiomyopathy, Familial Hypertrophic, 26, also known as cmh26, is related to hemifacial hyperplasia and myopathy, distal, 4. An important gene associated with Cardiomyopathy, Familial Hypertrophic, 26 is FLNC (Filamin C). Affiliated tissues include heart, and related phenotypes are mitral regurgitation and atrial fibrillation

Disease Ontology : ¹² A familial hypertrophic cardiomyopathy that has material basis in heterozygous mutation in the FLNC gene on chromosome 7q32.

More information from OMIM: 617047 PS115210 PS192600

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Related Diseases for Cardiomyopathy, Familial Hypertrophic, 26

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

(show all 17)

#	Related Disease	Score	Top Affiliating Genes
1	hemifacial hyperplasia	10.1	FLNC-AS1 FLNC
2	myopathy, distal, 4	10.1	FLNC-AS1 FLNC
3	myopathy, myofibrillar, 5	10.1	FLNC-AS1 FLNC
4	mitochondrial dna depletion syndrome 12b	10.0	RBM20 FLNC
5	progressive familial heart block	10.0	FLNC-AS1 FLNC
6	myopathy, spheroid body	10.0	NEBL FLNC
7	congenital structural myopathy	10.0	NEBL FLNC
8	intrinsic cardiomyopathy	10.0	RBM20 FLNC
9	myofibrillar myopathy	9.9	FLNC-AS1 FLNC
10	cardiomyopathy, dilated, 1b	9.9	RBM20 FLNC-AS1 FLNC
11	patent foramen ovale	9.8	FLNC-AS1 FLNC
12	cardiomyopathy, dilated, 1e	9.8	TNNC1 RBM20
13	cardiomyopathy, familial hypertrophic, 1	9.7	TNNC1 FLNC-AS1 FLNC
14	restrictive cardiomyopathy	9.6	TNNC1 RBM20 FLNC-AS1 FLNC
15	left ventricular noncompaction	9.5	TNNC1 RBM20 NEBL FLNC
16	hypertrophic cardiomyopathy	9.3	TNNC1 RBM20 NEBL FLNC-AS1 FLNC
17	dilated cardiomyopathy	9.3	TNNC1 RBM20 NEBL FLNC-AS1 FLNC

Graphical network of the top 20 diseases related to Cardiomyopathy, Familial Hypertrophic, 26:

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Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 26

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 26:

³¹

#	Description	HPO Frequency	HPO Source Accession
1	mitral regurgitation ³¹	occasional (7.5%)	HP:0001653
2	atrial fibrillation ³¹	occasional (7.5%)	HP:0005110
3	left atrial enlargement ³¹	very rare (1%)	HP:0031295
4	congestive heart failure ³¹		HP:0001635
5	dyspnea ³¹		HP:0002094

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 20-May-2021)

Respiratory Lung:
dyspnea

Cardiovascular Vascular:
pulmonary hypertension (in some patients)

Cardiovascular Heart:
interstitial fibrosis
atrial fibrillation (in some patients)
heart failure
myocyte hypertrophy
mitral regurgitation (in some patients)
more

Clinical features from OMIM®:

617047 (Updated 20-May-2021)

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Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 26

Search Clinical Trials , NIH Clinical Center for Cardiomyopathy, Familial Hypertrophic, 26

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Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 26

Genetic tests related to Cardiomyopathy, Familial Hypertrophic, 26:

#	Genetic test	Affiliating Genes
1	Cardiomyopathy, Familial Hypertrophic, 26 ²⁹	FLNC
2	Cardiomyopathy, Familial Restrictive, 5 ²⁹

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Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 26

MalaCards organs/tissues related to Cardiomyopathy, Familial Hypertrophic, 26:

⁴⁰

Heart

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Publications for Cardiomyopathy, Familial Hypertrophic, 26

Articles related to Cardiomyopathy, Familial Hypertrophic, 26:

(show all 19)

#	Title	Authors	PMID	Year
1	Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy. ⁵⁷ ⁶	Brodehl A...Gerull B	26666891	2016
2	Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy. ⁵⁷ ⁶	Valdes-Mas R...Lopez-Otin C	25351925	2014
3	Filamin C Truncation Mutations Are Associated With Arrhythmogenic Dilated Cardiomyopathy and Changes in the Cell-Cell Adhesion Structures. ⁶	Begay RL...Taylor MRG	30067491	2018
4	Truncating mutations on myofibrillar myopathies causing genes as prevalent molecular explanations on patients with dilated cardiomyopathy. ⁶	Janin A...Millat G	28436997	2017
5	Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies. ⁶	Ortiz-Genga MF...Monserrat L	27908349	2016
6	Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C. ⁶	Reinstein E...Lopez-Otin C	27601210	2016
7	FLNC Gene Splice Mutations Cause Dilated Cardiomyopathy. ⁶	Begay RL...Taylor MR	28008423	2016
8	FLNC myofibrillar myopathy results from impaired autophagy and protein insufficiency. ⁶	Ruparelia AA...Bryson-Richardson RJ	26969713	2016
9	Myofibrillar instability exacerbated by acute exercise in filaminopathy. ⁶	Chevessier F...Schroder R	26472074	2015
10	Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned. ⁶	Ghaoui R...Clarke NF	26436962	2015
11	Prioritizing causal disease genes using unbiased genomic features. ⁶	Deo RC...Roth FP	25633252	2014
12	Targeted analysis of whole genome sequence data to diagnose genetic cardiomyopathy. ⁶	Golbus JR...McNally EM	25179549	2014
13	Pathophysiology of protein aggregation and extended phenotyping in filaminopathy. ⁶	Kley RA...Furst DO	22961544	2012
14	LOVD v.2.0: the next generation in gene variant databases. ⁶	Fokkema IF...den Dunnen JT	21520333	2011
15	A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy. ⁶	Vorgerd M...Huebner A	15929027	2005
16	Noninvasive indexes of left atrial diastolic function in hypertrophic cardiomyopathy. ⁶¹	Dardas PS...Shapiro LM	10980083	2000
17	Resting echocardiographic features of latent left ventricular outflow obstruction in hypertrophic cardiomyopathy. ⁶¹	Nakatani S...Thomas JD	8831401	1996
18	Apical hypertrophic cardiomyopathy: clinical follow-up and diagnostic correlates. ⁶¹	Webb JG...Wigle ED	2295747	1990
19	[Causes of sudden death in athletes]. ⁶¹	Fontaine G...Grosgogeat Y	2510685	1989

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Genes for Cardiomyopathy, Familial Hypertrophic, 26

Genes related to Cardiomyopathy, Familial Hypertrophic, 26 (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	FLNC	Filamin C	Protein Coding	1347.15	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² Genetic Tests ²⁹ Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	25351925
2	FLNC-AS1	FLNC Antisense RNA 1	RNA Gene	435.5	Pathogenic ⁶ Likely pathogenic ⁶ GeneCards inferred via : Variants (show sections)	25351925 27908349
3	ZYG11B	Zyg-11 Family Member B, Cell Cycle Regulator	Protein Coding	6.49	DISEASES inferred ¹⁵
4	RBM20	RNA Binding Motif Protein 20	Protein Coding	6.47	DISEASES inferred ¹⁵
5	PMPCB	Peptidase, Mitochondrial Processing Subunit Beta	Protein Coding	5.9	DISEASES inferred ¹⁵
6	TNNC1	Troponin C1, Slow Skeletal And Cardiac Type	Protein Coding	5.82	DISEASES inferred ¹⁵
7	DNAH1	Dynein Axonemal Heavy Chain 1	Protein Coding	5.7	DISEASES inferred ¹⁵
8	NEBL	Nebulette	Protein Coding	5.35	DISEASES inferred ¹⁵

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Variations for Cardiomyopathy, Familial Hypertrophic, 26

ClinVar genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 26:

⁶ (show top 50) (show all 1622)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	FLNC	NM_001458.4(FLNC):c.368T>C (p.Val123Ala)	SNV	Pathogenic	253125	rs1562991002	GRCh37: 7:128475395-128475395 GRCh38: 7:128835341-128835341
2	FLNC	NM_001458.4(FLNC):c.4615G>A (p.Ala1539Thr)	SNV	Pathogenic	253123	rs1562999443	GRCh37: 7:128488649-128488649 GRCh38: 7:128848595-128848595
3	FLNC-AS1 , FLNC	NM_001458.4(FLNC):c.6943C>A (p.His2315Asn)	SNV	Pathogenic	253124	rs1563003848	GRCh37: 7:128494682-128494682 GRCh38: 7:128854628-128854628
4	FLNC-AS1 , FLNC	NM_001458.4(FLNC):c.6478A>T (p.Ile2160Phe)	SNV	Pathogenic	253127	rs879255640	GRCh37: 7:128493885-128493885 GRCh38: 7:128853831-128853831
5	FLNC	NC_000007.14:g.128845989del	Deletion	Pathogenic	931563		GRCh37: 7:128486043-128486043 GRCh38: 7:128845989-128845989
6	FLNC	NM_001458.4(FLNC):c.4716del (p.Leu1573fs)	Deletion	Pathogenic	478127	rs1554400021	GRCh37: 7:128488747-128488747 GRCh38: 7:128848693-128848693
7	FLNC	NM_001458.4(FLNC):c.774del (p.Lys259fs)	Deletion	Pathogenic	478133	rs1554397506	GRCh37: 7:128477523-128477523 GRCh38: 7:128837469-128837469
8	FLNC	NM_001458.4(FLNC):c.3557C>T (p.Ala1186Val)	SNV	Pathogenic	427928	rs1114167361	GRCh37: 7:128485076-128485076 GRCh38: 7:128845022-128845022
9	FLNC	NM_001458.4(FLNC):c.2390-10_2406del	Deletion	Pathogenic	478125	rs1554398674	GRCh37: 7:128482836-128482862 GRCh38: 7:128842782-128842808
10	FLNC-AS1 , FLNC	NM_001458.4(FLNC):c.7294C>T (p.Gln2432Ter)	SNV	Pathogenic	478131	rs1554401756	GRCh37: 7:128496614-128496614 GRCh38: 7:128856560-128856560
11	FLNC	NM_001458.4(FLNC):c.4926_4927insACGTCACA (p.Val1643fs)	Insertion	Pathogenic	478128	rs1402879259	GRCh37: 7:128489028-128489029 GRCh38: 7:128848974-128848975
12	FLNC	NM_001458.4(FLNC):c.1519_1525del (p.Gly507fs)	Deletion	Pathogenic	478121	rs1554398092	GRCh37: 7:128480181-128480187 GRCh38: 7:128840127-128840133
13	FLNC	NM_001458.4(FLNC):c.3934_3937dup (p.Arg1313fs)	Duplication	Pathogenic	478126	rs1554399513	GRCh37: 7:128486183-128486184 GRCh38: 7:128846129-128846130
14	FLNC-AS1 , FLNC	NM_001458.4(FLNC):c.6976C>T (p.Arg2326Ter)	SNV	Pathogenic	478129	rs748416758	GRCh37: 7:128494715-128494715 GRCh38: 7:128854661-128854661
15	FLNC-AS1 , FLNC	NM_001458.4(FLNC):c.7371del (p.Glu2458fs)	Deletion	Pathogenic	478132	rs1554401780	GRCh37: 7:128496691-128496691 GRCh38: 7:128856637-128856637
16	FLNC-AS1 , FLNC	NM_001458.4(FLNC):c.7496_7497insTGCT (p.Gln2499fs)	Insertion	Pathogenic	539334	rs1554401830	GRCh37: 7:128496910-128496911 GRCh38: 7:128856856-128856857
17	FLNC-AS1 , FLNC	NM_001458.4(FLNC):c.7251+1G>A	SNV	Pathogenic	539340	rs1554401581	GRCh37: 7:128495369-128495369 GRCh38: 7:128855315-128855315
18	FLNC	NM_001458.4(FLNC):c.5165del (p.Gly1722fs)	Deletion	Pathogenic	539390	rs1554400242	GRCh37: 7:128489594-128489594 GRCh38: 7:128849540-128849540
19	FLNC	NM_001458.4(FLNC):c.805C>T (p.Arg269Ter)	SNV	Pathogenic	539411	rs755583250	GRCh37: 7:128477557-128477557 GRCh38: 7:128837503-128837503
20	FLNC	NM_001458.4(FLNC):c.1605C>A (p.Cys535Ter)	SNV	Pathogenic	539354	rs199976790	GRCh37: 7:128480657-128480657 GRCh38: 7:128840603-128840603
21	FLNC-AS1 , FLNC	NM_001458.4(FLNC):c.7536_7548del (p.Pro2513fs)	Deletion	Pathogenic	539437	rs1554401837	GRCh37: 7:128496949-128496961 GRCh38: 7:128856895-128856907
22	FLNC	NM_001458.4(FLNC):c.444G>A (p.Trp148Ter)	SNV	Pathogenic	539439	rs1554397197	GRCh37: 7:128475471-128475471 GRCh38: 7:128835417-128835417
23	FLNC	NM_001458.4(FLNC):c.2065G>T (p.Glu689Ter)	SNV	Pathogenic	539448	rs1446694237	GRCh37: 7:128481565-128481565 GRCh38: 7:128841511-128841511
24	FLNC-AS1 , FLNC	NM_001458.4(FLNC):c.5697dup (p.Ser1900fs)	Duplication	Pathogenic	539446	rs1554400700	GRCh37: 7:128491536-128491537 GRCh38: 7:128851482-128851483
25	FLNC-AS1 , FLNC	NM_001458.4(FLNC):c.5672delG	Deletion	Pathogenic	567017	rs1563001548	GRCh37: 7:128491508-128491508 GRCh38: 7:128851454-128851454
26	FLNC	NM_001127487.2(FLNC):c.147delinsTCT (p.Lys51fs)	Indel	Pathogenic	567163	rs1562988883	GRCh37: 7:128470838-128470838 GRCh38: 7:128830784-128830784
27	FLNC-AS1 , FLNC	NM_001458.4(FLNC):c.5653A>T (p.Lys1885Ter)	SNV	Pathogenic	567717	rs1563001456	GRCh37: 7:128491399-128491399 GRCh38: 7:128851345-128851345
28	FLNC	NM_001458.4(FLNC):c.4333_4336del (p.Gly1444_Lys1445insTer)	Deletion	Pathogenic	571885	rs1562998858	GRCh37: 7:128487793-128487796 GRCh38: 7:128847739-128847742
29	FLNC-AS1 , FLNC	NM_001458.4(FLNC):c.6447del (p.Ile2150fs)	Deletion	Pathogenic	574095	rs1563003153	GRCh37: 7:128493853-128493853 GRCh38: 7:128853799-128853799
30	FLNC	NM_001458.4(FLNC):c.1444C>T (p.Arg482Ter)	SNV	Pathogenic	517207	rs1420159591	GRCh37: 7:128480109-128480109 GRCh38: 7:128840055-128840055
31	FLNC	NM_001458.4(FLNC):c.3937C>T (p.Arg1313Ter)	SNV	Pathogenic	579589	rs766330686	GRCh37: 7:128486190-128486190 GRCh38: 7:128846136-128846136
32	FLNC	NM_001458.4(FLNC):c.4621A>T (p.Lys1541Ter)	SNV	Pathogenic	577928	rs1562999451	GRCh37: 7:128488655-128488655 GRCh38: 7:128848601-128848601
33	FLNC and overlap with 1 gene(s)	NC_000007.14:g.(?_128830618)_(128858543_?)del	Deletion	Pathogenic	584412		GRCh37: 7:128470672-128498597 GRCh38: 7:128830618-128858543
34	FLNC	NM_001458.4(FLNC):c.3557C>T (p.Ala1186Val)	SNV	Pathogenic	427928	rs1114167361	GRCh37: 7:128485076-128485076 GRCh38: 7:128845022-128845022
35	FLNC-AS1 , FLNC	NM_001458.4(FLNC):c.5904dup (p.Ile1969fs)	Duplication	Pathogenic	640320	rs1585167678	GRCh37: 7:128492705-128492706 GRCh38: 7:128852651-128852652
36	FLNC-AS1 , FLNC	NM_001458.4(FLNC):c.6883C>T (p.Gln2295Ter)	SNV	Pathogenic	642313	rs1585169831	GRCh37: 7:128494622-128494622 GRCh38: 7:128854568-128854568
37	FLNC	NM_001458.4(FLNC):c.4127+1G>T	SNV	Pathogenic	643473	rs1346981294	GRCh37: 7:128486518-128486518 GRCh38: 7:128846464-128846464
38	FLNC	NM_001458.4(FLNC):c.554G>A (p.Trp185Ter)	SNV	Pathogenic	643595	rs1585151331	GRCh37: 7:128475581-128475581 GRCh38: 7:128835527-128835527
39	FLNC	NM_001458.4(FLNC):c.4729C>T (p.Gln1577Ter)	SNV	Pathogenic	645256	rs1585163755	GRCh37: 7:128488763-128488763 GRCh38: 7:128848709-128848709
40	FLNC-AS1 , FLNC	NM_001458.4(FLNC):c.7365C>A (p.Tyr2455Ter)	SNV	Pathogenic	651699	rs540386120	GRCh37: 7:128496685-128496685 GRCh38: 7:128856631-128856631
41	FLNC-AS1 , FLNC	NM_001127487.2(FLNC):c.7235_7236AC[2] (p.Pro2414fs)	Microsatellite	Pathogenic	659634	rs1585171628	GRCh37: 7:128496653-128496654 GRCh38: 7:128856599-128856600
42	FLNC-AS1 , FLNC	NM_001458.4(FLNC):c.5675_5678del (p.Leu1892fs)	Deletion	Pathogenic	660879	rs1585166614	GRCh37: 7:128491512-128491515 GRCh38: 7:128851458-128851461
43	FLNC-AS1 , FLNC	NM_001458.4(FLNC):c.6242dup (p.Ser2082fs)	Duplication	Pathogenic	661219	rs1585168573	GRCh37: 7:128493553-128493554 GRCh38: 7:128853499-128853500
44	FLNC	NM_001458.4(FLNC):c.1861_1885dup (p.Arg629fs)	Duplication	Pathogenic	663736	rs1585156327	GRCh37: 7:128481269-128481270 GRCh38: 7:128841215-128841216
45	FLNC	NC_000007.14:g.(?_128848551)_(128848992_?)del	Deletion	Pathogenic	830847		GRCh37: 7:128488605-128489046 GRCh38:
46	FLNC	NM_001458.4(FLNC):c.3699del (p.Val1235fs)	Deletion	Pathogenic	834916		GRCh37: 7:128485218-128485218 GRCh38: 7:128845164-128845164
47	FLNC-AS1 , FLNC	NM_001458.4(FLNC):c.6753dup (p.Ala2252fs)	Duplication	Pathogenic	837501		GRCh37: 7:128494491-128494492 GRCh38: 7:128854437-128854438
48	FLNC	NM_001458.4(FLNC):c.3084C>A (p.Tyr1028Ter)	SNV	Pathogenic	841507		GRCh37: 7:128484212-128484212 GRCh38: 7:128844158-128844158
49	FLNC	NM_001458.4(FLNC):c.4108C>T (p.Arg1370Ter)	SNV	Pathogenic	842060		GRCh37: 7:128486498-128486498 GRCh38: 7:128846444-128846444
50	FLNC-AS1 , FLNC	NM_001458.4(FLNC):c.6190dup (p.Val2064fs)	Duplication	Pathogenic	843365		GRCh37: 7:128493066-128493067 GRCh38: 7:128853012-128853013

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 26:

⁷²

#	Symbol	AA change	Variation ID	SNP ID
1	FLNC	p.Val123Ala	VAR_077036	rs156299100
2	FLNC	p.Ala1539Thr	VAR_077038	rs156299944
3	FLNC	p.Ser1624Leu	VAR_077039	rs879255639
4	FLNC	p.Arg2133His	VAR_077040
5	FLNC	p.Ile2160Phe	VAR_077042	rs879255640

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Expression for Cardiomyopathy, Familial Hypertrophic, 26

Search GEO for disease gene expression data for Cardiomyopathy, Familial Hypertrophic, 26.

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Pathways for Cardiomyopathy, Familial Hypertrophic, 26

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GO Terms for Cardiomyopathy, Familial Hypertrophic, 26

Cellular components related to Cardiomyopathy, Familial Hypertrophic, 26 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	Z disc	GO:0030018	8.62	NEBL FLNC

Biological processes related to Cardiomyopathy, Familial Hypertrophic, 26 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	muscle fiber development	GO:0048747	8.62	NEBL FLNC

Molecular functions related to Cardiomyopathy, Familial Hypertrophic, 26 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cytoskeletal protein binding	GO:0008092	8.62	NEBL FLNC

Sources

Sources for Cardiomyopathy, Familial Hypertrophic, 26

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

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Cardiomyopathy, Familial Hypertrophic, 26 (CMH26)

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 26

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 26:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Cardiomyopathy, Familial Hypertrophic, 26

Related Diseases for Cardiomyopathy, Familial Hypertrophic, 26

Diseases in the Hypertrophic Cardiomyopathy family:

Diseases related to Cardiomyopathy, Familial Hypertrophic, 26 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Cardiomyopathy, Familial Hypertrophic, 26:

Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 26

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 26:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 26

Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 26

Genetic tests related to Cardiomyopathy, Familial Hypertrophic, 26:

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 26

MalaCards organs/tissues related to Cardiomyopathy, Familial Hypertrophic, 26:

Publications for Cardiomyopathy, Familial Hypertrophic, 26

Articles related to Cardiomyopathy, Familial Hypertrophic, 26:

Genes for Cardiomyopathy, Familial Hypertrophic, 26

Genes related to Cardiomyopathy, Familial Hypertrophic, 26 (2 elite genes):

Variations for Cardiomyopathy, Familial Hypertrophic, 26

ClinVar genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 26:

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 26:

Expression for Cardiomyopathy, Familial Hypertrophic, 26

Pathways for Cardiomyopathy, Familial Hypertrophic, 26

GO Terms for Cardiomyopathy, Familial Hypertrophic, 26

Cellular components related to Cardiomyopathy, Familial Hypertrophic, 26 according to GeneCards Suite gene sharing:

Biological processes related to Cardiomyopathy, Familial Hypertrophic, 26 according to GeneCards Suite gene sharing:

Molecular functions related to Cardiomyopathy, Familial Hypertrophic, 26 according to GeneCards Suite gene sharing:

Sources for Cardiomyopathy, Familial Hypertrophic, 26