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ARVD2
MCID: ARR046
MIFTS: 45

Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 (ARVD2)

Categories: Cardiovascular diseases, Genetic diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Arrhythmogenic Right Ventricular Dysplasia, Familial, 2

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MalaCards integrated aliases for Arrhythmogenic Right Ventricular Dysplasia, Familial, 2:

Name: Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 57 73 29 6 71
Arrhythmogenic Right Ventricular Dysplasia 2 57 12 13 15
Arrhythmogenic Right Ventricular Cardiomyopathy 2 57 12 73
Arvd2 57 12 73
Arvc2 57 12 73
Arrhythmogenic Right Ventricular Cardiomyopathy 2; Arvc2 57
Familial Arrhythmogenic Right Ventricular Dysplasia 2 12
Dysplasia, Arrhythmogenic Right Ventricular, Type 2 39

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant
heterogeneity.


HPO:

31
arrhythmogenic right ventricular dysplasia, familial, 2:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Cardiovascular diseases Skin diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:0110071
OMIM® 57 600996
OMIM Phenotypic Series 57 PS107970
MeSH 44 D019571
ICD10 32 I42.8
MedGen 41 C1832931
UMLS 71 C1832931
Sources

Summaries for Arrhythmogenic Right Ventricular Dysplasia, Familial, 2

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UniProtKB/Swiss-Prot : 73 Arrhythmogenic right ventricular dysplasia, familial, 2: A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias.

MalaCards based summary : Arrhythmogenic Right Ventricular Dysplasia, Familial, 2, also known as arrhythmogenic right ventricular dysplasia 2, is related to central core disease of muscle and atrial standstill 1. An important gene associated with Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 is RYR2 (Ryanodine Receptor 2), and among its related pathways/superpathways are Cardiac conduction and Myometrial Relaxation and Contraction Pathways. Affiliated tissues include heart, and related phenotypes are ventricular arrhythmia and sudden death

Disease Ontology : 12 An arrhythmogenic right ventricular dysplasia that has material basis in heterozygous mutation in the cardiac ryanodine receptor-2 gene (RYR2) on chromosome 1q43.

More information from OMIM: 600996 PS107970
Sources

Related Diseases for Arrhythmogenic Right Ventricular Dysplasia, Familial, 2

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Diseases in the Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 family:

Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 Arrhythmogenic Right Ventricular Dysplasia, Familial, 14

Diseases related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 76)
# Related Disease Score Top Affiliating Genes
1 central core disease of muscle 30.2 RYR2 RYR1
2 atrial standstill 1 29.3 TMEM43 RYR2 PKP2 DSP DSG2 DSC2
3 arrhythmogenic right ventricular cardiomyopathy 28.9 TMEM43 TGFB3 RYR2 RYR1 PKP2 DSP
4 malignant hyperthermia 28.5 TRDN RYR3 RYR2 RYR1 FKBP1B CASQ2
5 catecholaminergic polymorphic ventricular tachycardia 27.1 TRDN TMEM43 RYR3 RYR2 RYR1 PKP2
6 ventricular fibrillation, paroxysmal familial, 1 10.2 RYR2 DSP
7 palmoplantar keratoderma and woolly hair 10.2 DSP DSC2
8 ectodermal dysplasia/skin fragility syndrome 10.1 DSP DSC2
9 cardiac conduction defect 10.1 RYR2 DSP
10 lmna-related dilated cardiomyopathy 10.1 DSP DSC2
11 cardiac arrhythmia 10.0 RYR2 PKP2 DSP
12 right bundle branch block 10.0 PKP2 DSG2
13 dystonia 3, torsion, x-linked 10.0 DSC3 DSC2
14 subcorneal pustular dermatosis 10.0 DSP DSC3
15 leber congenital amaurosis 2 10.0 RYR2 FKBP1B
16 brugada syndrome 1 10.0 RYR2 DSG2
17 cardiomyopathy, dilated, 1h 10.0 TMEM43 DSP DSC2
18 cardiomyopathy, dilated, 1a 10.0 TMEM43 DSP DSC2
19 capillary disease 10.0 RYR3 RYR1
20 isolated elevated serum creatine phosphokinase levels 10.0 TRDN RYR2 RYR1
21 impetigo 10.0 DSG2 DSC3
22 neuroleptic malignant syndrome 10.0 RYR3 RYR1
23 ventricular tachycardia, catecholaminergic polymorphic, 3 10.0 RYR2 CASQ2
24 benign chronic pemphigus 9.9 DSP DSC3
25 ventricular tachycardia, catecholaminergic polymorphic, 4 9.9
26 darier-white disease 9.9 DSP DSC3 DSC2
27 familial isolated arrhythmogenic right ventricular dysplasia 9.9 TMEM43 PKP2 DSP DSC2
28 pemphigus vulgaris, familial 9.9 DSP DSG2 DSC3
29 arrhythmogenic right ventricular dysplasia, familial, 13 9.8 TGFB3 RYR2 PKP2 DSP
30 congenital fiber-type disproportion 9.8 TRDN RYR3 RYR1
31 long qt syndrome 3 9.7 TRDN RYR2 CASQ2
32 andersen cardiodysrhythmic periodic paralysis 9.7 TRDN RYR2 CASQ2
33 timothy syndrome 9.7 TRDN RYR2 CASQ2
34 ritter's disease 9.7 DSP DSG2 DSC3 DSC2
35 paraneoplastic pemphigus 9.7 DSP DSG2 DSC3 DSC2
36 pemphigus 9.7 DSP DSG2 DSC3 DSC2
37 bullous skin disease 9.7 DSP DSG2 DSC3 DSC2
38 capillary malformations, congenital 9.7 TRDN RYR3 RYR2 RYR1
39 congenital structural myopathy 9.7 TRDN RYR3 RYR2 RYR1
40 short qt syndrome 9.6 RYR2 CASQ2
41 familial atrial fibrillation 9.6 RYR2 PKP2 DSG2 CASQ2
42 myasthenic syndrome, congenital, 5 9.6 TRDN RYR2 FKBP1B CASQ2
43 long qt syndrome 2 9.5 TRDN RYR2 PKP2 CASQ2
44 central core myopathy 9.5 TRDN RYR3 RYR2 RYR1 FKBP1B
45 palmoplantar keratosis 9.5 PKP2 DSP DSG2 DSC3 DSC2
46 left bundle branch hemiblock 9.5 TMEM43 RYR2 PKP2 DSP DSG2 DSC2
47 intrinsic cardiomyopathy 9.5 TMEM43 RYR2 PKP2 DSP DSG2 DSC2
48 heart disease 9.5 TGFB3 RYR2 RYR1 PKP2 FKBP1B DSP
49 arrhythmogenic right ventricular dysplasia, familial, 3 9.5 TGFB3 RYR2 PKP2 DSP DSG2 DSC2
50 arrhythmogenic right ventricular dysplasia, familial, 1 9.5 TGFB3 RYR2 PKP2 DSP DSG2 DSC2

Graphical network of the top 20 diseases related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 2:



Diseases related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
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Symptoms & Phenotypes for Arrhythmogenic Right Ventricular Dysplasia, Familial, 2

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Human phenotypes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 2:

31
# Description HPO Frequency HPO Source Accession
1 ventricular arrhythmia 31 HP:0004308
2 sudden death 31 HP:0001699
3 dilatation of the ventricular cavity 31 HP:0006698
4 right ventricular cardiomyopathy 31 HP:0011663
5 effort-induced polymorphic ventricular tachycardia 31 HP:0004758

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Cardiac:
arrhythmogenic right ventricular cardiomyopathy. cardiac electrical instability. ventricular arrhythmias. ventricular aneurysms. effort-induced polymorphic ventricular tachycardias.

Lab:
fibro-fatty replacement of right ventricular myocardium.

Misc:
juvenile sudden death.

Clinical features from OMIM®:

600996 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.85 CASQ2 DSC2 DSG2 DSP FKBP1B PKP2
2 mortality/aging MP:0010768 9.65 CASQ2 DSC3 DSG2 DSP FKBP1B PKP2
3 muscle MP:0005369 9.28 CASQ2 DSG2 DSP FKBP1B PKP2 RYR1
Sources

Drugs & Therapeutics for Arrhythmogenic Right Ventricular Dysplasia, Familial, 2

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Search Clinical Trials , NIH Clinical Center for Arrhythmogenic Right Ventricular Dysplasia, Familial, 2

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Genetic Tests for Arrhythmogenic Right Ventricular Dysplasia, Familial, 2

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Genetic tests related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 2:

# Genetic test Affiliating Genes
1 Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 29 RYR2
Sources

Anatomical Context for Arrhythmogenic Right Ventricular Dysplasia, Familial, 2

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MalaCards organs/tissues related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 2:

40
Heart
Sources

Publications for Arrhythmogenic Right Ventricular Dysplasia, Familial, 2

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Articles related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 2:

(show all 16)
# Title Authors PMID Year
1
Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). 57 6 61
11159936 2001
2
A new locus for arrhythmogenic right ventricular cardiomyopathy (ARVD2) maps to chromosome 1q42-q43. 61 57
8589694 1995
3
Myocardial calcium signalling and arrhythmia pathogenesis. 57
15336976 2004
4
RYR2 sequencing reveals novel missense mutations in a Kazakh idiopathic ventricular tachycardia study cohort. 61
24978818 2014
5
Type 2 ryanodine receptor domain A contains a unique and dynamic α-helix that transitions to a β-strand in a mutant linked with a heritable cardiomyopathy. 61
23978697 2013
6
Bioinformatic mapping and production of recombinant N-terminal domains of human cardiac ryanodine receptor 2. 61
20045464 2010
7
Genetic bases of arrhythmogenic right ventricular Cardiomyopathy. 61
21977247 2006
8
Enhanced store overload-induced Ca2+ release and channel sensitivity to luminal Ca2+ activation are common defects of RyR2 mutations linked to ventricular tachycardia and sudden death. 61
16239587 2005
9
Ryanodine receptor defects in muscle genetic diseases. 61
15336972 2004
10
Regulation of ryanodine receptors by FK506 binding proteins. 61
15451514 2004
11
Genes, exercise and sudden death: molecular basis of familial catecholaminergic polymorphic ventricular tachycardia. 61
15176428 2004
12
The binding of the RyR2 calcium channel to its gating protein FKBP12.6 is oppositely affected by ARVD2 and VTSIP mutations. 61
12459180 2002
13
Genetics of arrhythmogenic right ventricular cardiomyopathy. 61
12015469 2002
14
Involvement of the cardiac ryanodine receptor/calcium release channel in catecholaminergic polymorphic ventricular tachycardia. 61
11807805 2002
15
ARVD4, a new locus for arrhythmogenic right ventricular cardiomyopathy, maps to chromosome 2 long arm. 61
9344647 1997
16
A new locus for arrhythmogenic right ventricular dysplasia on the long arm of chromosome 14. 61
8824801 1996
Sources

Variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 2

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ClinVar genetic disease variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 2:

6 (show top 50) (show all 311)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RYR2 NM_001035.3(RYR2):c.7157A>T (p.Asn2386Ile) SNV Pathogenic 12958 rs121918601 1:237804238-237804238 1:237640938-237640938
2 RYR2 GRCh37/hg19 1q43(chr1:237413038-237540797) copy number gain Pathogenic 625614 1:237413038-237540797
3 RYR2 NM_001035.3(RYR2):c.6202C>T (p.Arg2068Ter) SNV Pathogenic 983147 1:237791142-237791142 1:237627842-237627842
4 RYR2 NM_001035.3(RYR2):c.1298T>C (p.Leu433Pro) SNV Pathogenic 12959 rs121918602 1:237617696-237617696 1:237454396-237454396
5 RYR2 NM_001035.3(RYR2):c.1258C>T (p.Arg420Trp) SNV Pathogenic 201214 rs190140598 1:237608788-237608788 1:237445488-237445488
6 RYR2 NM_001035.3(RYR2):c.6532G>A (p.Val2178Ile) SNV Likely pathogenic 201385 rs794728821 1:237794818-237794818 1:237631518-237631518
7 RYR2 NM_001035.3(RYR2):c.14161T>C (p.Tyr4721His) SNV Likely pathogenic 970017 1:237969446-237969446 1:237806146-237806146
8 RYR2 NM_001035.3(RYR2):c.13528G>T (p.Ala4510Ser) SNV Likely pathogenic 201350 rs397516510 1:237954780-237954780 1:237791480-237791480
9 RYR2 NM_001035.3(RYR2):c.8659dup (p.Glu2887fs) Duplication Likely pathogenic 982634 1:237837463-237837464 1:237674163-237674164
10 RYR2 NM_001035.3(RYR2):c.12159G>A (p.Glu4053=) SNV Conflicting interpretations of pathogenicity 43719 rs41267517 1:237947171-237947171 1:237783871-237783871
11 RYR2 NM_001035.3(RYR2):c.577-14G>A SNV Uncertain significance 296702 rs148019277 1:237550567-237550567 1:237387267-237387267
12 RYR2 NM_001035.3(RYR2):c.6280G>A (p.Gly2094Ser) SNV Uncertain significance 263982 rs777365708 1:237791220-237791220 1:237627920-237627920
13 RYR2 NM_001035.3(RYR2):c.828A>G (p.Arg276=) SNV Uncertain significance 296705 rs180711819 1:237580403-237580403 1:237417103-237417103
14 RYR2 NM_001035.3(RYR2):c.9995C>T (p.Thr3332Met) SNV Uncertain significance 296745 rs774437805 1:237872251-237872251 1:237708951-237708951
15 RYR2 NM_001035.3(RYR2):c.8493T>C (p.Val2831=) SNV Uncertain significance 296734 rs755660659 1:237829868-237829868 1:237666568-237666568
16 RYR2 NM_001035.3(RYR2):c.9755A>G (p.His3252Arg) SNV Uncertain significance 296742 rs760379293 1:237870423-237870423 1:237707123-237707123
17 RYR2 NM_001035.3(RYR2):c.11766G>A (p.Glu3922=) SNV Uncertain significance 296756 rs774625105 1:237936939-237936939 1:237773639-237773639
18 RYR2 NM_001035.3(RYR2):c.7542G>A (p.Leu2514=) SNV Uncertain significance 201176 rs371088367 1:237813206-237813206 1:237649906-237649906
19 RYR2 NM_001035.3(RYR2):c.13718G>A (p.Arg4573His) SNV Uncertain significance 296764 rs371157286 1:237955559-237955559 1:237792259-237792259
20 RYR2 NM_001035.3(RYR2):c.10962A>C (p.Glu3654Asp) SNV Uncertain significance 296749 rs547005691 1:237895372-237895372 1:237732072-237732072
21 RYR2 NM_001035.3(RYR2):c.4734C>T (p.Pro1578=) SNV Uncertain significance 43794 rs201880756 1:237774112-237774112 1:237610812-237610812
22 RYR2 NM_001035.3(RYR2):c.849-10T>C SNV Uncertain significance 296707 rs771173251 1:237586382-237586382 1:237423082-237423082
23 RYR2 NM_001035.3(RYR2):c.4273A>G (p.Thr1425Ala) SNV Uncertain significance 296724 rs776046135 1:237755151-237755151 1:237591851-237591851
24 RYR2 NM_001035.3(RYR2):c.12404G>A (p.Arg4135His) SNV Uncertain significance 296761 rs764202302 1:237947416-237947416 1:237784116-237784116
25 RYR2 NM_001035.3(RYR2):c.9435T>C (p.Ser3145=) SNV Uncertain significance 296740 rs774657844 1:237865345-237865345 1:237702045-237702045
26 RYR2 NM_001035.3(RYR2):c.4044G>A (p.Lys1348=) SNV Uncertain significance 296722 rs755391572 1:237754176-237754176 1:237590876-237590876
27 RYR2 NM_001035.3(RYR2):c.5619A>G (p.Ala1873=) SNV Uncertain significance 43807 rs373282364 1:237778047-237778047 1:237614747-237614747
28 RYR2 NM_001035.3(RYR2):c.2772G>A (p.Leu924=) SNV Uncertain significance 296716 rs780664060 1:237675041-237675041 1:237511741-237511741
29 RYR2 NM_001035.3(RYR2):c.9338G>A (p.Gly3113Asp) SNV Uncertain significance 296739 rs770278770 1:237863738-237863738 1:237700438-237700438
30 RYR2 NM_001035.3(RYR2):c.8515-7A>G SNV Uncertain significance 296736 rs766622060 1:237831176-237831176 1:237667876-237667876
31 RYR2 NM_001035.3(RYR2):c.1404G>A (p.Glu468=) SNV Uncertain significance 296709 rs768538183 1:237617802-237617802 1:237454502-237454502
32 RYR2 NM_001035.3(RYR2):c.11146-6G>A SNV Uncertain significance 296752 rs886046277 1:237919582-237919582 1:237756282-237756282
33 RYR2 NM_001035.3(RYR2):c.2267G>A (p.Ser756Asn) SNV Uncertain significance 36739 rs193922623 1:237664074-237664074 1:237500774-237500774
34 RYR2 NM_001035.3(RYR2):c.1006-12C>T SNV Uncertain significance 296708 rs367998175 1:237604607-237604607 1:237441307-237441307
35 RYR2 NM_001035.3(RYR2):c.5763G>A (p.Arg1921=) SNV Uncertain significance 296729 rs886046270 1:237780633-237780633 1:237617333-237617333
36 RYR2 NM_001035.3(RYR2):c.9067+10C>T SNV Uncertain significance 296738 rs372631657 1:237850814-237850814 1:237687514-237687514
37 RYR2 NM_001035.3(RYR2):c.684C>T (p.Leu228=) SNV Uncertain significance 43818 rs72549417 1:237551394-237551394 1:237388094-237388094
38 RYR2 NM_001035.3(RYR2):c.9619A>G (p.Asn3207Asp) SNV Uncertain significance 178123 rs372601642 1:237870287-237870287 1:237706987-237706987
39 RYR2 NM_001035.3(RYR2):c.1612+13A>G SNV Uncertain significance 179814 rs368200572 1:237620048-237620048 1:237456748-237456748
40 RYR2 NM_001035.3(RYR2):c.9067+12C>T SNV Uncertain significance 43835 rs112365440 1:237850816-237850816 1:237687516-237687516
41 RYR2 NM_001035.3(RYR2):c.5586C>T (p.Asp1862=) SNV Uncertain significance 36745 rs193922628 1:237778014-237778014 1:237614714-237614714
42 RYR2 NM_001035.3(RYR2):c.11557+15G>A SNV Uncertain significance 296754 rs761490797 1:237934202-237934202 1:237770902-237770902
43 RYR2 NM_001035.3(RYR2):c.*1268G>A SNV Uncertain significance 876917 1:237997215-237997215 1:237833915-237833915
44 RYR2 NM_001035.3(RYR2):c.3105C>T (p.Tyr1035=) SNV Uncertain significance 296717 rs747358776 1:237713882-237713882 1:237550582-237550582
45 RYR2 NM_001035.3(RYR2):c.1612+10A>G SNV Uncertain significance 296711 rs886046262 1:237620045-237620045 1:237456745-237456745
46 RYR2 NM_001035.3(RYR2):c.11557+14C>T SNV Uncertain significance 296753 rs374155447 1:237934201-237934201 1:237770901-237770901
47 RYR2 NM_001035.3(RYR2):c.10551C>A (p.Gly3517=) SNV Uncertain significance 385546 rs768797598 1:237881818-237881818 1:237718518-237718518
48 RYR2 NM_001035.3(RYR2):c.4250A>G (p.Tyr1417Cys) SNV Uncertain significance 296723 rs777557037 1:237755128-237755128 1:237591828-237591828
49 RYR2 NM_001035.3(RYR2):c.10017C>T (p.His3339=) SNV Uncertain significance 138952 rs376439588 1:237872273-237872273 1:237708973-237708973
50 RYR2 NM_001035.3(RYR2):c.13593G>A (p.Lys4531=) SNV Uncertain significance 227911 rs548313130 1:237955434-237955434 1:237792134-237792134

UniProtKB/Swiss-Prot genetic disease variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 2:

73
# Symbol AA change Variation ID SNP ID
1 RYR2 p.Leu433Pro VAR_011395 rs121918602
2 RYR2 p.Asn2386Ile VAR_011398 rs121918601
3 RYR2 p.Arg176Gln VAR_044087 rs794728708
4 RYR2 p.Thr2504Met VAR_044096 rs769219555

Sources

Expression for Arrhythmogenic Right Ventricular Dysplasia, Familial, 2

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Search GEO for disease gene expression data for Arrhythmogenic Right Ventricular Dysplasia, Familial, 2.
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Pathways for Arrhythmogenic Right Ventricular Dysplasia, Familial, 2

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Pathways related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Cardiac conduction 65
Show member pathways
 12.56 TRDN RYR3 RYR2 RYR1 FKBP1B
2
Myometrial Relaxation and Contraction Pathways 1
Show member pathways
 12.27 RYR3 RYR2 RYR1 CASQ2
3
Ion channel transport 65
Show member pathways
 12.26 TRDN RYR3 RYR2 RYR1 FKBP1B
4
Keratinization 65
Show member pathways
 12.17 PKP2 DSP DSG2 DSC3 DSC2
5
Calcium signaling pathway 36
12.03 TRDN RYR3 RYR2 RYR1 CASQ2
6
Presenilin-Mediated Signaling 63
11.84 RYR3 RYR2 RYR1
7
Apelin signaling pathway 36
11.81 RYR3 RYR2 RYR1
8
Cardiac muscle contraction 36
11.57 TRDN RYR2 CASQ2
9
Netrin Signaling 63
11.27 RYR3 RYR2 RYR1
10
Arrhythmogenic right ventricular cardiomyopathy 36 1
11.21 RYR2 PKP2 DSP DSG2 DSC2
11
Antiarrhythmic Pathway, Pharmacodynamics 60
11 RYR2 FKBP1B DSP CASQ2
12
Cell-type Dependent Selectivity of CCK2R Signaling 1
10.45 RYR3 RYR2 RYR1
Sources

GO Terms for Arrhythmogenic Right Ventricular Dysplasia, Familial, 2

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Cellular components related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.21 TRDN TGFB3 RYR3 RYR2 RYR1 PKP2
2 cell junction GO:0030054 9.93 PKP2 DSP DSG2 DSC3 DSC2
3 cell-cell junction GO:0005911 9.85 PKP2 DSP DSG2 DSC3 DSC2
4 Z disc GO:0030018 9.8 RYR3 RYR2 RYR1 FKBP1B CASQ2
5 cornified envelope GO:0001533 9.77 PKP2 DSP DSG2 DSC3 DSC2
6 intercalated disc GO:0014704 9.73 PKP2 DSP DSG2 DSC2
7 cytoplasmic vesicle membrane GO:0030659 9.72 RYR3 RYR2 RYR1
8 sarcolemma GO:0042383 9.7 RYR3 RYR2 RYR1
9 smooth endoplasmic reticulum GO:0005790 9.65 RYR3 RYR2 RYR1
10 calcium channel complex GO:0034704 9.65 RYR3 RYR2 RYR1 FKBP1B CASQ2
11 junctional sarcoplasmic reticulum membrane GO:0014701 9.62 TRDN RYR2 RYR1 CASQ2
12 desmosome GO:0030057 9.55 PKP2 DSP DSG2 DSC3 DSC2
13 sarcoplasmic reticulum lumen GO:0033018 9.49 TRDN CASQ2
14 sarcoplasmic reticulum GO:0016529 9.43 TRDN RYR3 RYR2 RYR1 FKBP1B CASQ2
15 sarcoplasmic reticulum membrane GO:0033017 9.1 TRDN RYR3 RYR2 RYR1 FKBP1B CASQ2

Biological processes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 according to GeneCards Suite gene sharing:

(show all 33)
# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.93 TRDN RYR3 RYR2 RYR1 FKBP1B CASQ2
2 keratinization GO:0031424 9.92 PKP2 DSP DSG2 DSC3 DSC2
3 cell-cell adhesion GO:0098609 9.89 PKP2 DSP DSG2 DSC3 DSC2
4 cellular calcium ion homeostasis GO:0006874 9.86 TRDN RYR3 RYR2 RYR1
5 response to hypoxia GO:0001666 9.83 TGFB3 RYR2 RYR1
6 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.83 DSG2 DSC3 DSC2
7 calcium ion transport GO:0006816 9.82 RYR3 RYR2 RYR1
8 calcium ion transmembrane transport GO:0070588 9.81 RYR3 RYR2 RYR1
9 regulation of cytosolic calcium ion concentration GO:0051480 9.77 RYR2 RYR1 FKBP1B
10 regulation of heart rate GO:0002027 9.76 RYR2 FKBP1B CASQ2
11 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.74 RYR2 FKBP1B CASQ2
12 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.72 TRDN FKBP1B CASQ2
13 cornification GO:0070268 9.72 PKP2 DSP DSG2 DSC3 DSC2
14 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.71 RYR2 PKP2 FKBP1B
15 regulation of heart rate by cardiac conduction GO:0086091 9.71 PKP2 DSP DSG2 DSC2
16 negative regulation of ryanodine-sensitive calcium-release channel activity GO:0060315 9.69 TRDN FKBP1B CASQ2
17 release of sequestered calcium ion into cytosol GO:0051209 9.67 RYR3 RYR2 RYR1 FKBP1B
18 response to progesterone GO:0032570 9.66 TGFB3 DSG2
19 calcium-mediated signaling using intracellular calcium source GO:0035584 9.65 RYR2 FKBP1B
20 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0014808 9.65 TRDN RYR2 RYR1
21 ventricular cardiac muscle cell action potential GO:0086005 9.63 RYR2 PKP2
22 regulation of release of sequestered calcium ion into cytosol GO:0051279 9.63 TRDN CASQ2
23 detection of calcium ion GO:0005513 9.62 RYR2 CASQ2
24 response to redox state GO:0051775 9.62 RYR2 FKBP1B
25 response to caffeine GO:0031000 9.61 RYR2 RYR1
26 regulation of cell communication by electrical coupling GO:0010649 9.61 TRDN CASQ2
27 desmosome organization GO:0002934 9.61 PKP2 DSP DSG2
28 positive regulation of sequestering of calcium ion GO:0051284 9.59 RYR2 FKBP1B
29 Purkinje myocyte to ventricular cardiac muscle cell signaling GO:0086029 9.58 RYR2 CASQ2
30 cellular response to caffeine GO:0071313 9.56 RYR3 RYR2 RYR1 CASQ2
31 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.46 PKP2 DSP DSG2 DSC2
32 regulation of cardiac conduction GO:1903779 9.43 TRDN RYR3 RYR2 RYR1 FKBP1B CASQ2
33 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.02 RYR2 PKP2 DSP DSG2 DSC2

Molecular functions related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.87 RYR3 RYR2 RYR1 DSG2 DSC3 DSC2
2 ion channel binding GO:0044325 9.67 TRDN RYR2 PKP2 FKBP1B
3 calmodulin binding GO:0005516 9.63 RYR3 RYR2 RYR1
4 ion channel activity GO:0005216 9.61 RYR3 RYR2 RYR1
5 calcium channel activity GO:0005262 9.58 RYR3 RYR2 RYR1
6 calcium-release channel activity GO:0015278 9.43 RYR3 RYR2 RYR1
7 calcium-induced calcium release activity GO:0048763 9.33 RYR3 RYR2 RYR1
8 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 9.26 PKP2 DSP DSG2 DSC2
9 ryanodine-sensitive calcium-release channel activity GO:0005219 8.92 RYR3 RYR2 RYR1 FKBP1B
Sources

Sources for Arrhythmogenic Right Ventricular Dysplasia, Familial, 2

About this section
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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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