CMH25
MCID: CRD236
MIFTS: 50

Cardiomyopathy, Familial Hypertrophic, 25 (CMH25)

Categories: Cardiovascular diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 25

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 25:

Name: Cardiomyopathy, Familial Hypertrophic, 25 57
Hypertrophic Cardiomyopathy 25 12 29 6 15
Cmh25 57 12 72
Cardiomyopathy, Familial Hypertrophic 25 72
Cardiomyopathy Familial Hypertrophic 25 12
Cardiomyopathy, Hypertrophic, Type 25 39
Cardiomyopathy, Hypertrophic, 25 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
cardiomyopathy, familial hypertrophic, 25:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110328
OMIM® 57 607487
OMIM Phenotypic Series 57 PS192600
MeSH 44 D024741

Summaries for Cardiomyopathy, Familial Hypertrophic, 25

UniProtKB/Swiss-Prot : 72 Cardiomyopathy, familial hypertrophic 25: 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, 25, also known as hypertrophic cardiomyopathy 25, is related to cerebral hypoxia and toxic encephalopathy. An important gene associated with Cardiomyopathy, Familial Hypertrophic, 25 is TCAP (Titin-Cap), and among its related pathways/superpathways are Innate Immune System and Apoptotic Pathways in Synovial Fibroblasts. Affiliated tissues include skin, myeloid and colon, and related phenotypes are left ventricular hypertrophy and wolff-parkinson-white syndrome

Disease Ontology : 12 A familial hypertrophic cardiomyopathy that has material basis in heterozygous mutation in the TCAP gene on chromosome 17q12.

More information from OMIM: 607487 PS192600

Related Diseases for Cardiomyopathy, Familial Hypertrophic, 25

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

(show all 39)
# Related Disease Score Top Affiliating Genes
1 cerebral hypoxia 10.1 FOS CASP3
2 toxic encephalopathy 10.0 JUN CASP3 ACTB
3 fibrodysplasia ossificans progressiva 10.0 MAPK14 MAPK1 FOS
4 skin granular cell tumor 9.9 MAP2K2 MAP2K1
5 status epilepticus 9.9 JUN FOS CASP3
6 t-cell lymphoblastic leukemia/lymphoma 9.9 JUN FOS CASP3 ATF2
7 amelogenesis imperfecta, type ig 9.9 JUN FOS CASP3 ACTB
8 amelogenesis imperfecta 9.9 JUN FOS CASP3 ACTB
9 cardiofaciocutaneous syndrome 1 9.9 MAPK1 MAP2K2 MAP2K1
10 human cytomegalovirus infection 9.8 MAPK14 MAPK1 MAP2K6 CASP3
11 osteogenic sarcoma 9.8 MAPK14 JUN FOS CASP3
12 autosomal dominant polycystic kidney disease 9.7 MAPK1 JUN FOS CASP3 ATF2
13 breast adenocarcinoma 9.7 MAPK8 MAPK1 FOS CASP3
14 kagami-ogata syndrome 9.7 FOS CASP3 ACTB
15 anthrax disease 9.6 MAPK14 MAP2K6 MAP2K4 MAP2K3 MAP2K2 MAP2K1
16 dysgerminoma of ovary 9.6 POU5F1 NANOG
17 leukemia, acute lymphoblastic 9.6 MAPK8 JUN FOS CASP3 ACTB
18 squamous cell carcinoma, head and neck 9.6 MAPK1 MAP2K2 MAP2K1 JUN CASP3
19 leukemia, chronic myeloid 9.5 MAPK9 MAPK8 MAPK14 MAPK1 CASP3
20 fibrosarcoma 9.5 MAPK8 MAPK1 MAP2K1 JUN FOS
21 embryonal carcinoma 9.5 POU5F1 NANOG JUN FOS
22 pelizaeus-merzbacher disease 9.5 POU5F1 NANOG ACTB
23 teratocarcinoma 9.5 POU5F1 NANOG JUN CASP3
24 colon adenocarcinoma 9.5 MAPK8 MAPK14 JUN FOS CASP3 ACTB
25 skin melanoma 9.4 MAP2K2 MAP2K1 EIF2AK3 CASP3 ACTB
26 lung cancer susceptibility 3 9.4 MAPK8 MAPK1 MAP2K1 JUN CASP3
27 rasopathy 9.4 MAPK1 MAP2K2 MAP2K1 EIF2AK3 ACTB
28 sarcoma 9.3 POU5F1 MAPK8 MAPK1 JUN FOS CASP3
29 parkinson disease, late-onset 9.3 POU5F1 MAPK8 MAPK14 JUN CASP3 ACTB
30 pheochromocytoma 9.2 MAPK9 MAPK14 MAPK1 MAP2K1 JUN FOS
31 acute promyelocytic leukemia 9.1 MAPK8 MAPK14 MAPK1 MAP2K1 JUN FOS
32 leukemia, acute myeloid 8.9 POU5F1 NANOG MAP2K1 JUN FOS CASP3
33 alzheimer disease 8.8 MAPK9 MAPK8 MAPK14 MAPK1 MAP2K1 EIF2AK3
34 neuroblastoma 8.8 POU5F1 MAPK8 MAPK1 MAP2K4 MAP2K1 JUN
35 pancreatic cancer 8.6 NANOG MAPK8 MAPK1 MAP2K4 MAP2K2 MAP2K1
36 skin carcinoma 8.4 POU5F1 MAPK9 MAPK8 MAPK14 MAPK1 MAP2K2
37 prostate cancer 8.1 POU5F1 NANOG MAPK8 MAPK14 MAPK1 MAP2K4
38 disease of mental health 7.9 POU5F1 NANOG MAPK8 MAPK14 MAPK1 MAP2K1
39 colorectal cancer 7.6 POU5F1 NANOG MAPK9 MAPK8 MAPK14 MAPK1

Graphical network of the top 20 diseases related to Cardiomyopathy, Familial Hypertrophic, 25:



Diseases related to Cardiomyopathy, Familial Hypertrophic, 25

Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 25

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 25:

31
# Description HPO Frequency HPO Source Accession
1 left ventricular hypertrophy 31 occasional (7.5%) HP:0001712
2 wolff-parkinson-white syndrome 31 occasional (7.5%) HP:0001716
3 dilated cardiomyopathy 31 HP:0001644

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Cardiovascular Heart:
left ventricular hypertrophy (in some patients)
interstitial fibrosis
sigmoid septal shape (in some patients)
myocyte hypertrophy
abnormal q-waves on electrocardiography (in some patients)
more

Clinical features from OMIM®:

607487 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Cardiomyopathy, Familial Hypertrophic, 25 according to GeneCards Suite gene sharing:

26 (show all 25)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10.77 MAPK1 MAP2K3
2 Decreased viability GR00055-A-2 10.77 MAPK1 MAP2K3
3 Decreased viability GR00107-A-1 10.77 MAP2K1
4 Decreased viability GR00173-A 10.77 MAP2K3
5 Decreased viability GR00221-A-1 10.77 EIF2AK3 MAPK14 MAPK8 MAPK9 MAP2K4 MAP2K7
6 Decreased viability GR00221-A-2 10.77 EIF2AK3 JUN MAPK14 MAPK8 MAPK9
7 Decreased viability GR00221-A-3 10.77 JUN MAPK9 MAP2K4 MAPK1 MAP2K1 MAP2K3
8 Decreased viability GR00221-A-4 10.77 EIF2AK3 MAP2K4 MAPK1 MAP2K6
9 Decreased viability GR00249-S 10.77 JUN MAP2K7 MAPK1
10 Decreased viability GR00301-A 10.77 MAPK14 MAPK9 MAP2K4
11 Decreased viability GR00342-S-1 10.77 MAPK1
12 Decreased viability GR00342-S-2 10.77 MAPK8 MAPK1
13 Decreased viability GR00342-S-3 10.77 MAPK8 MAPK1
14 Decreased viability GR00386-A-1 10.77 JUN MAPK14 MAP2K3
15 Decreased viability GR00402-S-2 10.77 MAPK8 MAP2K7
16 Decreased substrate adherent cell growth GR00193-A-1 9.86 MAP2K3 MAPK1
17 Decreased substrate adherent cell growth GR00193-A-2 9.86 MAP2K7
18 Decreased substrate adherent cell growth GR00193-A-3 9.86 MAP2K2 MAP2K3 MAP2K7 MAPK1
19 Decreased substrate adherent cell growth GR00193-A-4 9.86 MAPK1
20 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 9.72 EIF2AK3 MAP2K2 MAP2K4 MAP2K7 MAPK1
21 Decreased cell migration GR00055-A-1 9.58 ACTB MAP2K2
22 Decreased cell migration GR00055-A-3 9.58 MAPK1
23 shRNA abundance <= 50% GR00343-S 9.23 ACTB EIF2AK3 JUN MAP2K1 MAP2K3 MAP2K7
24 Decreased cell viability after pRB stimulation GR00230-A-1 9.07 MAPK8
25 Increased telomerase activity GR00156-A 8.65 MAPK8

MGI Mouse Phenotypes related to Cardiomyopathy, Familial Hypertrophic, 25:

46 (show all 20)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.53 ATF2 CASP3 EIF2AK3 FOS JUN MAP2K1
2 behavior/neurological MP:0005386 10.47 ACTB ATF2 CASP3 EIF2AK3 FOS JUN
3 endocrine/exocrine gland MP:0005379 10.41 ACTB ATF2 CASP3 EIF2AK3 FOS JUN
4 cardiovascular system MP:0005385 10.4 ACTB ATF2 CASP3 FOS JUN MAP2K1
5 homeostasis/metabolism MP:0005376 10.35 ACTB ATF2 CASP3 EIF2AK3 FOS JUN
6 growth/size/body region MP:0005378 10.34 ACTB ATF2 CASP3 EIF2AK3 FOS JUN
7 hematopoietic system MP:0005397 10.34 ACTB ATF2 CASP3 FOS JUN MAP2K3
8 mortality/aging MP:0010768 10.3 ACTB ATF2 CASP3 EIF2AK3 FOS JUN
9 embryo MP:0005380 10.29 ACTB ATF2 FOS JUN MAP2K1 MAPK1
10 integument MP:0010771 10.25 ATF2 CASP3 FOS JUN MAP2K1 MAP2K2
11 immune system MP:0005387 10.23 ACTB ATF2 CASP3 EIF2AK3 FOS JUN
12 craniofacial MP:0005382 10.17 CASP3 FOS JUN MAP2K1 MAP2K2 MAPK1
13 digestive/alimentary MP:0005381 10.16 CASP3 EIF2AK3 MAP2K1 MAP2K2 MAPK1 MAPK8
14 liver/biliary system MP:0005370 10.1 ACTB ATF2 EIF2AK3 JUN MAP2K4 MAPK1
15 nervous system MP:0003631 10.1 ACTB ATF2 CASP3 EIF2AK3 FOS JUN
16 neoplasm MP:0002006 10.06 ACTB ATF2 EIF2AK3 FOS MAP2K1 MAP2K2
17 hearing/vestibular/ear MP:0005377 10.05 ACTB ATF2 CASP3 FOS MAP2K1 MAP2K2
18 normal MP:0002873 9.85 ACTB ATF2 FOS JUN MAP2K1 MAP2K2
19 reproductive system MP:0005389 9.7 ACTB ATF2 CASP3 FOS MAP2K1 MAP2K7
20 vision/eye MP:0005391 9.36 ACTB ATF2 CASP3 FOS JUN MAP2K1

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 25

Search Clinical Trials , NIH Clinical Center for Cardiomyopathy, Familial Hypertrophic, 25

Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 25

Genetic tests related to Cardiomyopathy, Familial Hypertrophic, 25:

# Genetic test Affiliating Genes
1 Hypertrophic Cardiomyopathy 25 29 TCAP

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 25

MalaCards organs/tissues related to Cardiomyopathy, Familial Hypertrophic, 25:

40
Skin, Myeloid, Colon, Kidney, Lung, Breast, Ovary

Publications for Cardiomyopathy, Familial Hypertrophic, 25

Articles related to Cardiomyopathy, Familial Hypertrophic, 25:

# Title Authors PMID Year
1
Echocardiographic-determined septal morphology in Z-disc hypertrophic cardiomyopathy. 6 57
17097056 2006
2
Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin. 57 6
16352453 2006
3
Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy. 57 6
15582318 2004
4
Fatty infiltration evaluation and selective pattern characterization of lower limbs in limb-girdle muscular dystrophy type 2A by muscle magnetic resonance imaging. 6
29797799 2018
5
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 6
27532257 2017
6
Genetics and genotype-phenotype correlations in Finnish patients with dilated cardiomyopathy. 6
26084686 2015
7
Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS. 6
27066551 2015
8
Novel TCAP mutation c.32C>A causing limb girdle muscular dystrophy 2G. 6
25055047 2014
9
The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy. 57
12507422 2002
10
Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin. 6
10655062 2000

Variations for Cardiomyopathy, Familial Hypertrophic, 25

ClinVar genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 25:

6 (show top 50) (show all 130)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TCAP NM_003673.3(TCAP):c.208C>T (p.Arg70Trp) SNV Pathogenic 189789 rs775636212 GRCh37: 17:37822066-37822066
GRCh38: 17:39665813-39665813
2 TCAP NM_003673.3(TCAP):c.410C>T (p.Thr137Ile) SNV Pathogenic 189787 rs773317399 GRCh37: 17:37822268-37822268
GRCh38: 17:39666015-39666015
3 TCAP NM_003673.3(TCAP):c.26_33dup (p.Glu12fs) Duplication Pathogenic 448649 rs778568339 GRCh37: 17:37821635-37821636
GRCh38: 17:39665382-39665383
4 TCAP NM_003673.4(TCAP):c.136_137del (p.Gln46fs) Deletion Pathogenic 835598 GRCh37: 17:37821994-37821995
GRCh38: 17:39665741-39665742
5 TCAP NM_003673.3(TCAP):c.66G>A (p.Trp22Ter) SNV Pathogenic 290645 rs141019458 GRCh37: 17:37821678-37821678
GRCh38: 17:39665425-39665425
6 TCAP NM_003673.4(TCAP):c.458G>A (p.Arg153His) SNV Pathogenic 44710 rs149585781 GRCh37: 17:37822316-37822316
GRCh38: 17:39666063-39666063
7 TCAP NM_003673.4(TCAP):c.157C>T (p.Gln53Ter) SNV Likely pathogenic 5525 rs104894655 GRCh37: 17:37822015-37822015
GRCh38: 17:39665762-39665762
8 TCAP NM_003673.4(TCAP):c.472C>A (p.Arg158Ser) SNV Likely pathogenic 44711 rs397516863 GRCh37: 17:37822330-37822330
GRCh38: 17:39666077-39666077
9 TCAP NM_003673.3(TCAP):c.343G>A (p.Glu115Lys) SNV Uncertain significance 410571 rs1060502965 GRCh37: 17:37822201-37822201
GRCh38: 17:39665948-39665948
10 TCAP NM_003673.3(TCAP):c.24C>T (p.Cys8=) SNV Uncertain significance 464946 rs756548785 GRCh37: 17:37821636-37821636
GRCh38: 17:39665383-39665383
11 TCAP NM_003673.3(TCAP):c.187C>T (p.Arg63Cys) SNV Uncertain significance 464945 rs758048577 GRCh37: 17:37822045-37822045
GRCh38: 17:39665792-39665792
12 TCAP NM_003673.3(TCAP):c.386A>C (p.Asp129Ala) SNV Uncertain significance 464948 rs1324156287 GRCh37: 17:37822244-37822244
GRCh38: 17:39665991-39665991
13 TCAP NM_003673.3(TCAP):c.421C>G (p.Pro141Ala) SNV Uncertain significance 180535 rs45509691 GRCh37: 17:37822279-37822279
GRCh38: 17:39666026-39666026
14 TCAP NM_003673.4(TCAP):c.493C>G (p.Gln165Glu) SNV Uncertain significance 44713 rs397516865 GRCh37: 17:37822351-37822351
GRCh38: 17:39666098-39666098
15 TCAP NM_003673.3(TCAP):c.208C>T (p.Arg70Trp) SNV Uncertain significance 189789 rs775636212 GRCh37: 17:37822066-37822066
GRCh38: 17:39665813-39665813
16 TCAP NM_003673.3(TCAP):c.116C>G (p.Ser39Cys) SNV Uncertain significance 464943 rs1555607027 GRCh37: 17:37821974-37821974
GRCh38: 17:39665721-39665721
17 TCAP NM_003673.4(TCAP):c.388C>T (p.Arg130Cys) SNV Uncertain significance 44708 rs374886575 GRCh37: 17:37822246-37822246
GRCh38: 17:39665993-39665993
18 TCAP NM_003673.4(TCAP):c.313G>C (p.Glu105Gln) SNV Uncertain significance 191776 rs146906267 GRCh37: 17:37822171-37822171
GRCh38: 17:39665918-39665918
19 TCAP NM_003673.3(TCAP):c.53G>A (p.Arg18Gln) SNV Uncertain significance 239548 rs45614536 GRCh37: 17:37821665-37821665
GRCh38: 17:39665412-39665412
20 TCAP NM_003673.3(TCAP):c.472C>T (p.Arg158Cys) SNV Uncertain significance 239547 rs397516863 GRCh37: 17:37822330-37822330
GRCh38: 17:39666077-39666077
21 TCAP NM_003673.3(TCAP):c.*297C>T SNV Uncertain significance 323049 rs772638575 GRCh37: 17:37822659-37822659
GRCh38: 17:39666406-39666406
22 TCAP NM_003673.4(TCAP):c.60C>G (p.Ala20=) SNV Uncertain significance 44714 rs146502276 GRCh37: 17:37821672-37821672
GRCh38: 17:39665419-39665419
23 TCAP NM_003673.3(TCAP):c.111-13C>A SNV Uncertain significance 323045 rs773913117 GRCh37: 17:37821956-37821956
GRCh38: 17:39665703-39665703
24 TCAP NM_003673.3(TCAP):c.313G>A (p.Glu105Lys) SNV Uncertain significance 288969 rs146906267 GRCh37: 17:37822171-37822171
GRCh38: 17:39665918-39665918
25 TCAP NM_003673.3(TCAP):c.389G>C (p.Arg130Pro) SNV Uncertain significance 464949 rs147503632 GRCh37: 17:37822247-37822247
GRCh38: 17:39665994-39665994
26 TCAP NM_003673.3(TCAP):c.113G>T (p.Cys38Phe) SNV Uncertain significance 202108 rs375310569 GRCh37: 17:37821971-37821971
GRCh38: 17:39665718-39665718
27 TCAP NM_003673.3(TCAP):c.480G>A (p.Met160Ile) SNV Uncertain significance 430120 rs755395354 GRCh37: 17:37822338-37822338
GRCh38: 17:39666085-39666085
28 TCAP NM_003673.3(TCAP):c.50_51delinsCT (p.Arg17Pro) Indel Uncertain significance 533540 rs1555606961 GRCh37: 17:37821662-37821663
GRCh38: 17:39665409-39665410
29 TCAP NM_003673.3(TCAP):c.227G>A (p.Arg76His) SNV Uncertain significance 533541 rs752435787 GRCh37: 17:37822085-37822085
GRCh38: 17:39665832-39665832
30 TCAP NM_003673.4(TCAP):c.269C>T (p.Pro90Leu) SNV Uncertain significance 177970 rs727504427 GRCh37: 17:37822127-37822127
GRCh38: 17:39665874-39665874
31 TCAP NM_003673.3(TCAP):c.113G>T (p.Cys38Phe) SNV Uncertain significance 202108 rs375310569 GRCh37: 17:37821971-37821971
GRCh38: 17:39665718-39665718
32 TCAP NM_003673.3(TCAP):c.316C>A (p.Arg106Ser) SNV Uncertain significance 566074 rs45578741 GRCh37: 17:37822174-37822174
GRCh38: 17:39665921-39665921
33 TCAP NM_003673.3(TCAP):c.448G>A (p.Gly150Ser) SNV Uncertain significance 222831 rs762850913 GRCh37: 17:37822306-37822306
GRCh38: 17:39666053-39666053
34 TCAP NM_003673.3(TCAP):c.317G>A (p.Arg106His) SNV Uncertain significance 568632 rs576098128 GRCh37: 17:37822175-37822175
GRCh38: 17:39665922-39665922
35 TCAP NM_003673.3(TCAP):c.481T>A (p.Ser161Thr) SNV Uncertain significance 568678 rs1567865417 GRCh37: 17:37822339-37822339
GRCh38: 17:39666086-39666086
36 TCAP NM_003673.3(TCAP):c.171C>G (p.Cys57Trp) SNV Uncertain significance 568778 rs369447207 GRCh37: 17:37822029-37822029
GRCh38: 17:39665776-39665776
37 TCAP NM_003673.3(TCAP):c.223G>A (p.Gly75Ser) SNV Uncertain significance 202111 rs753744791 GRCh37: 17:37822081-37822081
GRCh38: 17:39665828-39665828
38 TCAP NM_003673.4(TCAP):c.337C>T (p.Leu113Phe) SNV Uncertain significance 179032 rs372312912 GRCh37: 17:37822195-37822195
GRCh38: 17:39665942-39665942
39 TCAP NM_003673.3(TCAP):c.145G>A (p.Glu49Lys) SNV Uncertain significance 639581 rs45513698 GRCh37: 17:37822003-37822003
GRCh38: 17:39665750-39665750
40 TCAP NM_003673.3(TCAP):c.209G>A (p.Arg70Gln) SNV Uncertain significance 202110 rs552865793 GRCh37: 17:37822067-37822067
GRCh38: 17:39665814-39665814
41 TCAP NM_003673.3(TCAP):c.169T>C (p.Cys57Arg) SNV Uncertain significance 284026 rs886042772 GRCh37: 17:37822027-37822027
GRCh38: 17:39665774-39665774
42 TCAP NM_003673.3(TCAP):c.202A>T (p.Met68Leu) SNV Uncertain significance 520315 rs770133993 GRCh37: 17:37822060-37822060
GRCh38: 17:39665807-39665807
43 TCAP NM_003673.4(TCAP):c.70G>C (p.Glu24Gln) SNV Uncertain significance 838126 GRCh37: 17:37821682-37821682
GRCh38: 17:39665429-39665429
44 TCAP NM_003673.4(TCAP):c.148A>G (p.Thr50Ala) SNV Uncertain significance 841492 GRCh37: 17:37822006-37822006
GRCh38: 17:39665753-39665753
45 TCAP NM_003673.4(TCAP):c.88C>G (p.Leu30Val) SNV Uncertain significance 853619 GRCh37: 17:37821700-37821700
GRCh38: 17:39665447-39665447
46 TCAP NM_003673.3(TCAP):c.499G>A (p.Gly167Ser) SNV Uncertain significance 202107 rs794729177 GRCh37: 17:37822357-37822357
GRCh38: 17:39666104-39666104
47 TCAP NM_003673.4(TCAP):c.50G>C (p.Arg17Pro) SNV Uncertain significance 862031 GRCh37: 17:37821662-37821662
GRCh38: 17:39665409-39665409
48 TCAP NM_003673.4(TCAP):c.388C>A (p.Arg130Ser) SNV Uncertain significance 179714 rs374886575 GRCh37: 17:37822246-37822246
GRCh38: 17:39665993-39665993
49 TCAP NM_003673.4(TCAP):c.452_453delinsTC (p.Ala151Val) Indel Uncertain significance 863869 GRCh37: 17:37822310-37822311
GRCh38: 17:39666057-39666058
50 TCAP NM_003673.3(TCAP):c.286C>T (p.Pro96Ser) SNV Uncertain significance 646556 rs1597805580 GRCh37: 17:37822144-37822144
GRCh38: 17:39665891-39665891

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 25:

72
# Symbol AA change Variation ID SNP ID
1 TCAP p.Arg70Trp VAR_026650 rs775636212
2 TCAP p.Thr137Ile VAR_029447 rs773317399
3 TCAP p.Arg153His VAR_029448 rs149585781

Expression for Cardiomyopathy, Familial Hypertrophic, 25

Search GEO for disease gene expression data for Cardiomyopathy, Familial Hypertrophic, 25.

Pathways for Cardiomyopathy, Familial Hypertrophic, 25

Pathways related to Cardiomyopathy, Familial Hypertrophic, 25 according to GeneCards Suite gene sharing:

(show top 50) (show all 287)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.3 NANOG MAPK9 MAPK8 MAPK14 MAPK1 MAP2K7
2
Show member pathways
14.14 MAPK9 MAPK8 MAPK14 MAPK1 MAP2K7 MAP2K6
3
Show member pathways
14.12 MAPK9 MAPK8 MAPK14 MAPK1 MAP2K7 MAP2K6
4
Show member pathways
14 MAPK9 MAPK8 MAPK14 MAPK1 MAP2K7 MAP2K6
5
Show member pathways
13.96 MAPK9 MAPK8 MAPK14 MAPK1 MAP2K7 MAP2K6
6
Show member pathways
13.88 MAPK9 MAPK8 MAPK14 MAPK1 MAP2K7 MAP2K6
7
Show member pathways
13.84 MAPK9 MAPK8 MAPK14 MAPK1 MAP2K7 MAP2K6
8
Show member pathways
13.76 MAPK9 MAPK8 MAPK14 MAPK1 MAP2K7 MAP2K6
9
Show member pathways
13.74 MAPK9 MAPK8 MAPK14 MAPK1 MAP2K7 MAP2K6
10
Show member pathways
13.71 POU5F1 NANOG MAPK14 MAPK1 MAP2K6 MAP2K2
11
Show member pathways
13.66 MAPK9 MAPK8 MAPK14 MAP2K3 JUN FOS
12
Show member pathways
13.64 MAPK9 MAPK8 MAPK14 MAP2K6 MAP2K3 FOS
13
Show member pathways
13.59 MAPK9 MAPK8 MAPK1 MAP2K7 MAP2K4 JUN
14
Show member pathways
13.56 NANOG MAPK1 MAP2K6 MAP2K4 MAP2K2 MAP2K1
15
Show member pathways
13.45 MAPK9 MAPK8 MAPK14 MAPK1 MAP2K7 MAP2K6
16
Show member pathways
13.41 MAPK9 MAPK8 MAPK1 MAP2K6 MAP2K4 MAP2K3
17
Show member pathways
13.41 MAPK9 MAPK8 MAPK14 MAPK1 MAP2K6 MAP2K4
18
Show member pathways
13.38 MAPK9 MAPK8 MAPK14 MAPK1 MAP2K7 MAP2K6
19
Show member pathways
13.28 MAPK9 MAPK8 MAPK1 MAP2K7 MAP2K6 MAP2K4
20
Show member pathways
13.25 POU5F1 NANOG MAPK14 MAPK1 MAP2K6 MAP2K3
21
Show member pathways
13.21 MAPK9 MAPK8 MAPK14 JUN FOS ATF2
22
Show member pathways
13.19 MAPK9 MAPK8 MAPK14 MAPK1 MAP2K6 MAP2K4
23
Show member pathways
13.18 MAPK9 MAPK8 MAPK14 MAPK1 MAP2K7 MAP2K6
24
Show member pathways
13.17 MAPK9 MAPK8 MAPK1 MAP2K2 MAP2K1 JUN
25
Show member pathways
13.17 MAPK9 MAPK8 MAPK14 MAPK1 MAP2K6 MAP2K4
26
Show member pathways
13.17 MAPK9 MAPK8 MAPK14 MAPK1 MAP2K7 MAP2K6
27
Show member pathways
13.16 MAPK9 MAPK8 MAPK14 MAPK1 MAP2K7 MAP2K6
28 13.15 MAPK9 MAPK8 MAPK1 MAP2K2 MAP2K1 JUN
29
Show member pathways
13.14 MAPK9 MAPK8 MAPK14 MAPK1 MAP2K1 JUN
30
Show member pathways
13.13 MAPK9 MAPK8 MAPK14 MAPK1 MAP2K7 MAP2K6
31
Show member pathways
13.11 MAPK9 MAPK8 MAPK1 MAP2K2 MAP2K1 JUN
32
Show member pathways
13.11 MAPK9 MAPK8 MAPK14 MAPK1 MAP2K7 MAP2K4
33
Show member pathways
13.1 MAPK9 MAPK8 MAPK14 MAPK1 EIF2AK3 CASP3
34
Show member pathways
13.1 MAPK9 MAPK8 MAPK1 MAP2K4 MAP2K2 MAP2K1
35
Show member pathways
13.1 MAPK9 MAPK8 MAPK14 MAPK1 MAP2K7 MAP2K6
36
Show member pathways
13.09 MAPK9 MAPK8 MAPK14 MAPK1 MAP2K6 MAP2K3
37
Show member pathways
13.08 MAPK9 MAPK8 MAPK14 MAPK1 MAP2K7 MAP2K6
38
Show member pathways
13.06 MAPK9 MAPK8 MAPK14 MAPK1 MAP2K6 MAP2K4
39
Show member pathways
13.06 MAPK9 MAPK8 MAPK14 MAPK1 MAP2K7 MAP2K6
40
Show member pathways
13.04 MAPK9 MAPK8 MAPK14 MAPK1 JUN FOS
41
Show member pathways
13.04 MAPK9 MAPK8 MAPK14 MAPK1 MAP2K7 MAP2K6
42
Show member pathways
13.01 MAPK9 MAPK8 MAPK14 MAPK1 MAP2K7 MAP2K6
43
Show member pathways
13 MAPK9 MAPK8 MAPK1 MAP2K7 MAP2K4 MAP2K2
44
Show member pathways
13 MAPK9 MAPK8 MAPK14 MAPK1 MAP2K7 MAP2K6
45
Show member pathways
12.99 MAPK1 MAP2K2 MAP2K1 JUN FOS ACTB
46
Show member pathways
12.99 MAPK9 MAPK8 MAPK14 MAPK1 MAP2K7 MAP2K6
47 12.99 MAPK9 MAPK8 MAPK14 MAPK1 MAP2K7 MAP2K6
48
Show member pathways
12.97 MAPK9 MAPK8 MAPK14 MAPK1 MAP2K6 MAP2K4
49
Show member pathways
12.95 MAPK14 MAPK1 MAP2K2 MAP2K1 JUN FOS
50
Show member pathways
12.94 MAPK1 MAP2K2 MAP2K1 JUN FOS

GO Terms for Cardiomyopathy, Familial Hypertrophic, 25

Cellular components related to Cardiomyopathy, Familial Hypertrophic, 25 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.16 TCAP POU5F1 MAPK9 MAPK8 MAPK14 MAPK1
2 mitochondrion GO:0005739 9.97 POU5F1 MAPK9 MAPK8 MAPK14 MAPK1 MAP2K2
3 nucleoplasm GO:0005654 9.97 POU5F1 NANOG MAPK9 MAPK8 MAPK14 MAPK1
4 nucleus GO:0005634 9.86 POU5F1 NANOG MAPK9 MAPK8 MAPK14 MAPK1
5 cytosol GO:0005829 9.55 TCAP POU5F1 MAPK9 MAPK8 MAPK14 MAPK1
6 transcription factor AP-1 complex GO:0035976 9.32 JUN FOS

Biological processes related to Cardiomyopathy, Familial Hypertrophic, 25 according to GeneCards Suite gene sharing:

(show all 42)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 10.14 MAPK1 MAP2K7 MAP2K3 MAP2K2 MAP2K1 JUN
2 apoptotic process GO:0006915 10.13 MAPK14 MAPK1 MAP2K7 MAP2K6 MAP2K4 CASP3
3 positive regulation of gene expression GO:0010628 10.08 POU5F1 MAPK9 MAPK8 MAPK14 MAPK1 MAP2K1
4 intracellular signal transduction GO:0035556 10.06 MAPK9 MAPK8 MAPK14 MAPK1 CASP3
5 phosphorylation GO:0016310 10.06 MAPK9 MAPK8 MAPK14 MAPK1 MAP2K7 MAP2K6
6 positive regulation of apoptotic process GO:0043065 10.04 MAPK8 MAP2K6 MAP2K4 JUN CASP3
7 regulation of gene expression GO:0010468 10.04 POU5F1 NANOG MAPK9 MAPK8 MAPK14 MAPK1
8 response to drug GO:0042493 9.99 MAP2K6 JUN FOS CASP3
9 response to lipopolysaccharide GO:0032496 9.97 MAPK14 MAPK1 JUN FOS CASP3
10 peptidyl-serine phosphorylation GO:0018105 9.97 MAPK9 MAPK8 MAPK14 MAPK1 EIF2AK3
11 peptidyl-tyrosine phosphorylation GO:0018108 9.93 MAP2K7 MAP2K6 MAP2K4 MAP2K3 MAP2K2 MAP2K1
12 Fc-epsilon receptor signaling pathway GO:0038095 9.91 MAPK9 MAPK8 MAPK1 MAP2K7 MAP2K4 JUN
13 MAPK cascade GO:0000165 9.91 MAPK9 MAPK8 MAPK14 MAPK1 MAP2K6 MAP2K4
14 protein phosphorylation GO:0006468 9.9 MAPK9 MAPK8 MAPK14 MAPK1 MAP2K7 MAP2K6
15 positive regulation of neuron apoptotic process GO:0043525 9.86 MAP2K4 JUN CASP3 ATF2
16 response to wounding GO:0009611 9.85 POU5F1 MAP2K4 CASP3
17 peptidyl-threonine phosphorylation GO:0018107 9.85 MAPK8 MAPK1 MAP2K1
18 JNK cascade GO:0007254 9.85 MAPK9 MAPK8 MAP2K7 MAP2K4
19 response to mechanical stimulus GO:0009612 9.84 MAPK8 JUN FOS
20 cellular response to reactive oxygen species GO:0034614 9.83 MAPK9 MAPK8 MAPK1 JUN FOS
21 response to UV GO:0009411 9.82 MAPK8 MAP2K7 CASP3
22 cellular response to amino acid starvation GO:0034198 9.81 MAPK8 MAPK1 EIF2AK3
23 cardiac muscle contraction GO:0060048 9.8 TCAP MAP2K6 MAP2K3
24 cellular response to cadmium ion GO:0071276 9.8 MAPK9 MAPK8 MAPK1 JUN FOS
25 ERK1 and ERK2 cascade GO:0070371 9.78 MAPK1 MAP2K2 MAP2K1
26 stress-activated MAPK cascade GO:0051403 9.77 MAPK8 MAPK1 MAP2K7
27 response to muscle stretch GO:0035994 9.76 TCAP MAPK14 FOS
28 regulation of stress-activated MAPK cascade GO:0032872 9.71 MAPK1 MAP2K2 MAP2K1
29 regulation of early endosome to late endosome transport GO:2000641 9.7 MAPK1 MAP2K2 MAP2K1
30 regulation of Golgi inheritance GO:0090170 9.69 MAPK1 MAP2K2 MAP2K1
31 regulation of ossification GO:0030278 9.68 MAPK14 MAPK1
32 negative regulation of hippo signaling GO:0035331 9.68 MAPK14 MAP2K3
33 positive regulation of production of miRNAs involved in gene silencing by miRNA GO:1903800 9.68 MAP2K2 MAP2K1
34 Bergmann glial cell differentiation GO:0060020 9.67 MAPK1 MAP2K1
35 p38MAPK cascade GO:0038066 9.66 MAPK14 MAP2K3
36 trachea formation GO:0060440 9.65 MAPK1 MAP2K1
37 endodermal cell fate specification GO:0001714 9.65 POU5F1 NANOG
38 JUN phosphorylation GO:0007258 9.62 MAPK9 MAPK8
39 cellular response to sorbitol GO:0072709 9.62 MAP2K6 MAP2K4
40 positive regulation of cyclase activity GO:0031281 9.61 MAPK8 MAPK14
41 activation of MAPK activity GO:0000187 9.56 MAPK14 MAPK1 MAP2K7 MAP2K6 MAP2K4 MAP2K3
42 regulation of DNA-binding transcription factor activity GO:0051090 9.17 MAPK9 MAPK8 MAPK14 MAPK1 JUN FOS

Molecular functions related to Cardiomyopathy, Familial Hypertrophic, 25 according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.53 TCAP POU5F1 NANOG MAPK9 MAPK8 MAPK14
2 transferase activity GO:0016740 10.2 MAPK9 MAPK8 MAPK14 MAPK1 MAP2K7 MAP2K6
3 nucleotide binding GO:0000166 10.18 MAPK9 MAPK8 MAPK14 MAPK1 MAP2K7 MAP2K6
4 ATP binding GO:0005524 10.1 MAPK9 MAPK8 MAPK14 MAPK1 MAP2K7 MAP2K6
5 kinase activity GO:0016301 10 MAPK9 MAPK8 MAPK14 MAPK1 MAP2K7 MAP2K6
6 sequence-specific double-stranded DNA binding GO:1990837 9.99 POU5F1 NANOG JUN FOS ATF2
7 enzyme binding GO:0019899 9.97 MAPK8 MAPK14 MAP2K7 JUN EIF2AK3
8 protein kinase binding GO:0019901 9.97 MAPK1 MAP2K7 MAP2K6 MAP2K3 ATF2 ACTB
9 transcription factor binding GO:0008134 9.95 POU5F1 MAPK9 MAPK1 JUN FOS ATF2
10 protein kinase activity GO:0004672 9.9 MAPK9 MAPK8 MAPK14 MAPK1 MAP2K7 MAP2K6
11 transcription regulatory region sequence-specific DNA binding GO:0000976 9.88 POU5F1 NANOG JUN FOS
12 protein tyrosine kinase activity GO:0004713 9.85 MAP2K7 MAP2K6 MAP2K4 MAP2K3 MAP2K2 MAP2K1
13 protein phosphatase binding GO:0019903 9.77 MAPK14 MAP2K7 EIF2AK3
14 RNA polymerase II activating transcription factor binding GO:0001102 9.73 JUN FOS ATF2
15 MAP kinase activity GO:0004707 9.73 MAPK9 MAPK8 MAPK14 MAPK1
16 protein serine/threonine/tyrosine kinase activity GO:0004712 9.7 MAPK9 MAP2K2 MAP2K1
17 protein serine/threonine kinase activity GO:0004674 9.7 MAPK9 MAPK8 MAPK14 MAPK1 MAP2K7 MAP2K6
18 MAP-kinase scaffold activity GO:0005078 9.58 MAP2K2 MAP2K1
19 JUN kinase activity GO:0004705 9.54 MAPK9 MAPK8
20 JUN kinase kinase activity GO:0008545 9.51 MAP2K7 MAP2K4
21 MAP kinase kinase activity GO:0004708 9.23 MAPK14 MAPK1 MAP2K7 MAP2K6 MAP2K4 MAP2K3

Sources for Cardiomyopathy, Familial Hypertrophic, 25

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....