CMH9
MCID: CRD079
MIFTS: 41

Cardiomyopathy, Familial Hypertrophic, 9 (CMH9)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 9

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 9:

Name: Cardiomyopathy, Familial Hypertrophic, 9 56 12 13 71
Cmh9 56 12 73
Familial Hypertrophic Cardiomyopathy 9 29 6
Hypertrophic Cardiomyopathy 9 12 15
Cardiomyopathy, Hypertrophic, Familial, Type 9 39
Cardiomyopathy, Familial Hypertrophic 9 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
based on report of 1 patient


HPO:

31
cardiomyopathy, familial hypertrophic, 9:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110315
OMIM 56 613765
OMIM Phenotypic Series 56 PS192600
MeSH 43 D024741
MedGen 41 C1861065
UMLS 71 C1861065

Summaries for Cardiomyopathy, Familial Hypertrophic, 9

UniProtKB/Swiss-Prot : 73 Cardiomyopathy, familial hypertrophic 9: 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, 9, also known as cmh9, is related to friedreich ataxia 2 and hemochromatosis, type 5. An important gene associated with Cardiomyopathy, Familial Hypertrophic, 9 is TTN (Titin), and among its related pathways/superpathways are Cell adhesion molecules (CAMs) and Hematopoietic Stem Cells and Lineage-specific Markers. Affiliated tissues include heart, testes and cardiac myocytes, and related phenotypes are hypertrophic cardiomyopathy and dilated cardiomyopathy

Disease Ontology : 12 A familial hypertrophic cardiomyopathy that has material basis in heterozygous mutation in the TTN gene on chromosome 2q31.

More information from OMIM: 613765 PS192600

Related Diseases for Cardiomyopathy, Familial Hypertrophic, 9

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

(show top 50) (show all 143)
# Related Disease Score Top Affiliating Genes
1 friedreich ataxia 2 10.4 FTMT FTHL17
2 hemochromatosis, type 5 10.4 FTL FTH1
3 spastic paraplegia 38, autosomal dominant 10.4 FTL FTH1
4 neuropathy, hereditary sensory and autonomic, type viii 10.3 FTL FTH1
5 neurodegeneration with brain iron accumulation 3 10.3 FTL FTH1
6 cortical thymoma 10.3 TTN CD4
7 dendritic cell thymoma 10.3 TTN CD4
8 cork-handlers' disease 10.2 CD8A CD4
9 bare lymphocyte syndrome, type i 10.2 CD8A CD4
10 ventilation pneumonitis 10.1 CD8A CD4
11 diffuse infiltrative lymphocytosis syndrome 10.1 CD8A CD4
12 diabetes mellitus, insulin-dependent, 23 10.1 CD8A CD4
13 autoimmune lymphoproliferative syndrome, type iia 10.1 CD8A CD4
14 early yaws 10.1 CD8A CD4
15 bird fancier's lung 10.1 CD8A CD4
16 parapsoriasis 10.1 CD8A CD4
17 norwegian scabies 10.1 CD8A CD4
18 skin sarcoidosis 10.1 CD8A CD4
19 variola major 10.1 CD8A CD4
20 follicular mucinosis 10.1 CD8A CD4
21 viral exanthem 10.1 CD8A CD4
22 tertiary syphilis 10.1 CD8A CD4
23 spongiotic dermatitis 10.1 CD8A CD4
24 acute retinal necrosis syndrome 10.1 CD8A CD4
25 invasive malignant thymoma 10.1 CD8A CD4
26 metal allergy 10.1 CD8A CD4
27 cerebritis 10.1 CD8A CD4
28 granulomatous hepatitis 10.1 CD8A CD4
29 acute interstitial pneumonia 10.1 CD8A CD4
30 west nile encephalitis 10.1 CD8A CD4
31 oral hairy leukoplakia 10.1 CD8A CD4
32 superficial basal cell carcinoma 10.1 CD8A CD4
33 secondary syphilis 10.1 CD8A CD4
34 glanders 10.1 CD8A CD4
35 parotid disease 10.1 CD8A CD4
36 nickel allergic contact dermatitis 10.1 CD8A CD4
37 west nile fever 10.1 CD8A CD4
38 neurosarcoidosis 10.1 CD8A CD4
39 esophageal candidiasis 10.1 CD8A CD4
40 myeloid and lymphoid neoplasms associated with fgfr1 abnormalities 10.1 CD8A CD4
41 oral tuberculosis 10.1 CD8A CD4
42 pneumonic tularemia 10.1 CD8A CD4
43 tularemia 10.1 CD8A CD4
44 farmer's lung 10.1 CD8A CD4
45 pneumonic plague 10.1 CD8A CD4
46 adenoid hypertrophy 10.1 CD8A CD4
47 dacryoadenitis 10.1 CD8A CD4
48 duodenitis 10.1 CD8A CD4
49 combat disorder 10.1 CD8A CD4
50 xerophthalmia 10.1 CD8A CD4

Graphical network of the top 20 diseases related to Cardiomyopathy, Familial Hypertrophic, 9:



Diseases related to Cardiomyopathy, Familial Hypertrophic, 9

Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 9

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 9:

31
# Description HPO Frequency HPO Source Accession
1 hypertrophic cardiomyopathy 31 HP:0001639
2 dilated cardiomyopathy 31 HP:0001644

Symptoms via clinical synopsis from OMIM:

56
Cardiovascular Heart:
hypertrophic cardiomyopathy

Clinical features from OMIM:

613765

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 9

Search Clinical Trials , NIH Clinical Center for Cardiomyopathy, Familial Hypertrophic, 9

Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 9

Genetic tests related to Cardiomyopathy, Familial Hypertrophic, 9:

# Genetic test Affiliating Genes
1 Familial Hypertrophic Cardiomyopathy 9 29 TTN

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 9

MalaCards organs/tissues related to Cardiomyopathy, Familial Hypertrophic, 9:

40
Heart, Testes, Cardiac Myocytes

Publications for Cardiomyopathy, Familial Hypertrophic, 9

Articles related to Cardiomyopathy, Familial Hypertrophic, 9:

(show all 29)
# Title Authors PMID Year
1
Structural analysis of the titin gene in hypertrophic cardiomyopathy: identification of a novel disease gene. 6 56
10462489 1999
2
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 6
25173338 2014
3
Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing. 56
23396983 2013
4
Novel mitochondrial DNA mutations responsible for maternally inherited nonsyndromic hearing loss. 6
22241583 2012
5
Truncations of titin causing dilated cardiomyopathy. 56
22335739 2012
6
HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). 6
21810866 2011
7
Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). 6
21267010 2011
8
Expression patterns of cardiac myofilament proteins: genomic and protein analysis of surgical myectomy tissue from patients with obstructive hypertrophic cardiomyopathy. 6
19808356 2009
9
Hypertrophic Cardiomyopathy Overview 6
20301725 2008
10
Mutations in sarcomere protein genes in left ventricular noncompaction. 6
18506004 2008
11
Array-based resequencing assay for mutations causing hypertrophic cardiomyopathy. 6
18258667 2008
12
Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects. 6
17611253 2007
13
Gene mutations in apical hypertrophic cardiomyopathy. 6
16267253 2005
14
Molecular and muscle pathology in a series of caveolinopathy patients. 6
15580566 2005
15
Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy. 6
14672715 2004
16
American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic cardiomyopathy. A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the European Society of Cardiology Committee for Practice Guidelines. 6
14607462 2003
17
A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy. 6
12767666 2003
18
Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy. 6
10966831 2000
19
An additional mitochondrial tRNA(Ile) point mutation (A-to-G at nucleotide 4295) causing hypertrophic cardiomyopathy. 6
8889580 1996
20
Maternally inherited hypertrophic cardiomyopathy due to a novel T-to-C transition at nucleotide 9997 in the mitochondrial tRNA(glycine) gene. 6
8079988 1994
21
Report of the WHO/ISFC task force on the definition and classification of cardiomyopathies. 6
7459150 1980
22
Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy. 61
28395030 2017
23
Cardiovascular Malformations in Infants of Diabetic Mothers: A Retrospective Case-Control Study. 61
28282706 2017
24
Clinical and Prognostic Profiles of Cardiomyopathies Caused by Mutations in the Troponin T Gene. 61
26507537 2016
25
The impact of diagnosis: measuring the psychological response to being diagnosed with serious or potentially lethal cardiac disease in young competitive athletes. 61
26612845 2016
26
Long-term prognostic value of coronary flow velocity reserve in patients with hypertrophic cardiomyopathy: 9-year follow-up results from SZEGED study. 61
19784818 2009
27
Impaired response of left ventricular relaxation to exercise-induced adrenergic stimulation in patients with hypertrophic cardiomyopathy. 61
8962560 1996
28
Insulin-like growth factor I receptors in human cardiac myocytes and their relation to myocardial hypertrophy. 61
8283604 1993
29
[Importance of programmed ventricular stimulation in patients with ventricular salvos]. 61
3673160 1987

Variations for Cardiomyopathy, Familial Hypertrophic, 9

ClinVar genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 9:

6 (show top 50) (show all 150) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TTN NM_001267550.2(TTN):c.82657G>T (p.Gly27553Ter)SNV Pathogenic 488810 rs869178171 2:179428202-179428202 2:178563475-178563475
2 TTN NM_001267550.2(TTN):c.2219G>T (p.Arg740Leu)SNV Pathogenic 12649 rs28933405 2:179650726-179650726 2:178785999-178785999
3 TTN NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter)SNV Pathogenic/Likely pathogenic 180573 rs574660186 2:179444429-179444429 2:178579702-178579702
4 TTN NM_001267550.2(TTN):c.75134_75137AGAA[1] (p.Lys25046fs)short repeat Pathogenic/Likely pathogenic 202467 rs794729340 2:179435718-179435721 2:178570991-178570994
5 TTN NM_001267550.2(TTN):c.68641C>T (p.Arg22881Ter)SNV Likely pathogenic 488396 rs1213930919 2:179442512-179442512 2:178577785-178577785
6 TTN NM_001267550.2(TTN):c.72088A>T (p.Lys24030Ter)SNV Likely pathogenic 830238 2:179438771-179438771 2:178574044-178574044
7 TTN NM_001267550.2(TTN):c.89221dup (p.Ile29741fs)duplication Likely pathogenic 417932 rs1553543413 2:179418510-179418511 2:178553783-178553784
8 TTN NM_001267550.2(TTN):c.72358C>T (p.Leu24120Phe)SNV Conflicting interpretations of pathogenicity 501630 rs372309164 2:179438501-179438501 2:178573774-178573774
9 TTN NM_001267550.2(TTN):c.1895G>A (p.Gly632Asp)SNV Conflicting interpretations of pathogenicity 501631 rs150231219 2:179654748-179654748 2:178790021-178790021
10 TTN NM_001267550.2(TTN):c.99254G>A (p.Arg33085His)SNV Conflicting interpretations of pathogenicity 535324 rs777035261 2:179403302-179403302 2:178538575-178538575
11 TTN NM_001267550.2(TTN):c.66391A>G (p.Thr22131Ala)SNV Conflicting interpretations of pathogenicity 47234 rs140842479 2:179446705-179446705 2:178581978-178581978
12 TTN NM_001267550.2(TTN):c.49413G>T (p.Trp16471Cys)SNV Conflicting interpretations of pathogenicity 47030 rs202094100 2:179478597-179478597 2:178613870-178613870
13 TTN NM_001267550.2(TTN):c.83618T>C (p.Val27873Ala)SNV Conflicting interpretations of pathogenicity 47428 rs200775919 2:179427241-179427241 2:178562514-178562514
14 TTN NM_001267550.2(TTN):c.96904+4T>CSNV Conflicting interpretations of pathogenicity 47572 rs373514079 2:179407792-179407792 2:178543065-178543065
15 TTN NM_001267550.2(TTN):c.106837T>G (p.Ser35613Ala)SNV Conflicting interpretations of pathogenicity 47714 rs374405802 2:179393641-179393641 2:178528914-178528914
16 TTN NM_001267550.2(TTN):c.11311+1799G>CSNV Conflicting interpretations of pathogenicity 47732 rs147314430 2:179616052-179616052 2:178751325-178751325
17 TTN NM_001267550.2(TTN):c.100400T>G (p.Val33467Gly)SNV Conflicting interpretations of pathogenicity 165664 rs200166942 2:179401074-179401074 2:178536347-178536347
18 TTN NM_001267550.2(TTN):c.59729C>T (p.Thr19910Ile)SNV Conflicting interpretations of pathogenicity 178203 rs369476725 2:179456902-179456902 2:178592175-178592175
19 TTN NM_001267550.2(TTN):c.68824G>A (p.Glu22942Lys)SNV Conflicting interpretations of pathogenicity 96298 rs199506676 2:179442329-179442329 2:178577602-178577602
20 TTN NM_001267550.2(TTN):c.95873G>A (p.Arg31958Gln)SNV Conflicting interpretations of pathogenicity 203017 rs763270971 2:179409083-179409083 2:178544356-178544356
21 TTN NM_001267550.2(TTN):c.58397G>C (p.Gly19466Ala)SNV Conflicting interpretations of pathogenicity 202735 rs201922910 2:179458723-179458723 2:178593996-178593996
22 TTN NM_001267550.2(TTN):c.57656A>T (p.Tyr19219Phe)SNV Conflicting interpretations of pathogenicity 202731 rs201541213 2:179460425-179460425 2:178595698-178595698
23 TTN NM_001267550.2(TTN):c.53159T>C (p.Ile17720Thr)SNV Conflicting interpretations of pathogenicity 202708 rs201358641 2:179472256-179472256 2:178607529-178607529
24 TTN NM_001267550.2(TTN):c.32026A>G (p.Lys10676Glu)SNV Conflicting interpretations of pathogenicity 202568 rs200952728 2:179553849-179553849 2:178689122-178689122
25 TTN NM_001267550.2(TTN):c.30389G>A (p.Arg10130His)SNV Conflicting interpretations of pathogenicity 202555 rs373355159 2:179567225-179567225 2:178702498-178702498
26 TTN NM_001267550.2(TTN):c.89314G>A (p.Glu29772Lys)SNV Conflicting interpretations of pathogenicity 191860 rs200503016 2:179418418-179418418 2:178553691-178553691
27 TTN NM_001267550.2(TTN):c.57442A>G (p.Met19148Val)SNV Conflicting interpretations of pathogenicity 191935 rs188185141 2:179462367-179462367 2:178597640-178597640
28 TTN NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser)SNV Conflicting interpretations of pathogenicity 178217 rs192766485 2:179494968-179494968 2:178630241-178630241
29 TTN NM_001267550.2(TTN):c.25877A>G (p.Asn8626Ser)SNV Conflicting interpretations of pathogenicity 192008 rs200355367 2:179580264-179580264 2:178715537-178715537
30 TTN NM_001267550.2(TTN):c.6668A>T (p.His2223Leu)SNV Conflicting interpretations of pathogenicity 192075 rs372979075 2:179639770-179639770 2:178775043-178775043
31 TTN NM_001267550.2(TTN):c.100447G>C (p.Glu33483Gln)SNV Conflicting interpretations of pathogenicity 203056 rs368321767 2:179401027-179401027 2:178536300-178536300
32 TTN NM_001267550.2(TTN):c.100432T>G (p.Trp33478Gly)SNV Conflicting interpretations of pathogenicity 203055 rs372304158 2:179401042-179401042 2:178536315-178536315
33 TTN NM_001267550.2(TTN):c.98960C>T (p.Ser32987Phe)SNV Conflicting interpretations of pathogenicity 203044 rs746380940 2:179403702-179403702 2:178538975-178538975
34 TTN NM_001267550.2(TTN):c.40558+1G>ASNV Conflicting interpretations of pathogenicity 223256 rs368219776 2:179506963-179506963 2:178642236-178642236
35 TTN NM_133378.4(TTN):c.10361-1G>ASNV Conflicting interpretations of pathogenicity 223347 rs869312099 2:179603088-179603088 2:178738361-178738361
36 TTN NM_001267550.2(TTN):c.88720C>T (p.Arg29574Cys)SNV Conflicting interpretations of pathogenicity 202952 rs200513274 2:179419354-179419354 2:178554627-178554627
37 TTN NM_001267550.2(TTN):c.24905C>A (p.Thr8302Lys)SNV Conflicting interpretations of pathogenicity 229403 rs549604128 2:179582828-179582828 2:178718101-178718101
38 TTN NM_001267550.2(TTN):c.16126C>A (p.Leu5376Met)SNV Conflicting interpretations of pathogenicity 281951 rs72648936 2:179597777-179597777 2:178733050-178733050
39 TTN NM_001267550.2(TTN):c.66430G>A (p.Ala22144Thr)SNV Conflicting interpretations of pathogenicity 238827 rs183276016 2:179446666-179446666 2:178581939-178581939
40 TTN NM_001267550.2(TTN):c.51065C>T (p.Ala17022Val)SNV Conflicting interpretations of pathogenicity 238795 rs372419267 2:179475791-179475791 2:178611064-178611064
41 TTN NM_001267550.2(TTN):c.84976C>T (p.Arg28326Trp)SNV Uncertain significance 264324 rs749633038 2:179425883-179425883 2:178561156-178561156
42 TTN NM_001267550.2(TTN):c.58561G>A (p.Glu19521Lys)SNV Uncertain significance 238811 rs746319976 2:179458466-179458466 2:178593739-178593739
43 TTN NM_001267550.2(TTN):c.16288C>T (p.Arg5430Ter)SNV Uncertain significance 282527 rs772235481 2:179597615-179597615 2:178732888-178732888
44 TTN NM_001267550.2(TTN):c.104893G>C (p.Val34965Leu)SNV Uncertain significance 284089 rs886042785 2:179396449-179396449 2:178531722-178531722
45 TTN NM_001267550.2(TTN):c.79514C>T (p.Thr26505Ile)SNV Uncertain significance 284091 rs886042786 2:179431345-179431345 2:178566618-178566618
46 TTN NM_001267550.2(TTN):c.75527G>A (p.Arg25176His)SNV Uncertain significance 284466 rs375693396 2:179435332-179435332 2:178570605-178570605
47 TTN NM_001267550.2(TTN):c.94652T>C (p.Val31551Ala)SNV Uncertain significance 285409 rs369870689 2:179411503-179411503 2:178546776-178546776
48 TTN NM_001267550.2(TTN):c.48838G>A (p.Ala16280Thr)SNV Uncertain significance 290706 rs372911542 2:179479403-179479403 2:178614676-178614676
49 TTN NM_001267550.2(TTN):c.47693G>A (p.Arg15898Gln)SNV Uncertain significance 290711 rs376278449 2:179482119-179482119 2:178617392-178617392
50 TTN NM_001267550.2(TTN):c.99178A>C (p.Ile33060Leu)SNV Uncertain significance 238875 rs142108986 2:179403378-179403378 2:178538651-178538651

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 9:

73
# Symbol AA change Variation ID SNP ID
1 TTN p.Arg740Leu VAR_026687 rs28933405

Expression for Cardiomyopathy, Familial Hypertrophic, 9

Search GEO for disease gene expression data for Cardiomyopathy, Familial Hypertrophic, 9.

Pathways for Cardiomyopathy, Familial Hypertrophic, 9

Pathways related to Cardiomyopathy, Familial Hypertrophic, 9 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.67 HLA-A CD8A CD4
2 11.5 CEACAM5 CD8A CD4
3
Show member pathways
11.38 HLA-A CD8A CD4
4
Show member pathways
11.17 HLA-A CD8A CD4
5 10.41 FTMT FTL FTH1

GO Terms for Cardiomyopathy, Familial Hypertrophic, 9

Cellular components related to Cardiomyopathy, Familial Hypertrophic, 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell GO:0005623 9.43 FTMT FTL FTHL17 FTH1 ESR1 CD4
2 autolysosome GO:0044754 9.16 FTL FTH1
3 intracellular ferritin complex GO:0008043 8.62 FTL FTH1

Biological processes related to Cardiomyopathy, Familial Hypertrophic, 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.56 HLA-A FTH1 CD8A CD4
2 cellular iron ion homeostasis GO:0006879 9.46 FTMT FTL FTHL17 FTH1
3 iron ion transport GO:0006826 9.26 FTMT FTL FTHL17 FTH1
4 intracellular sequestering of iron ion GO:0006880 8.92 FTMT FTL FTHL17 FTH1

Molecular functions related to Cardiomyopathy, Familial Hypertrophic, 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.8 TTN SEPTIN4 FTL ESR1 CEACAM5 CD4
2 iron ion binding GO:0005506 9.56 FTMT FTL FTHL17 FTH1
3 ferroxidase activity GO:0004322 9.33 FTMT FTHL17 FTH1
4 ferrous iron binding GO:0008198 9.26 FTMT FTL FTHL17 FTH1
5 ferric iron binding GO:0008199 8.92 FTMT FTL FTHL17 FTH1

Sources for Cardiomyopathy, Familial Hypertrophic, 9

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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