ARVD2
MCID: ARR046
MIFTS: 46

Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 (ARVD2)

Categories: Cardiovascular diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Arrhythmogenic Right Ventricular Dysplasia, Familial, 2

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

Name: Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 58 76 30 6 74
Arrhythmogenic Right Ventricular Dysplasia 2 58 12 13 15
Arrhythmogenic Right Ventricular Cardiomyopathy 2 58 12 76
Arvd2 58 12 76
Arvc2 58 12 76
Arrhythmogenic Right Ventricular Cardiomyopathy 2; Arvc2 58
Dysplasia, Arrhythmogenic Right Ventricular, Type 2 ) 41
Familial Arrhythmogenic Right Ventricular Dysplasia 2 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant
heterogeneity.


HPO:

33
arrhythmogenic right ventricular dysplasia, familial, 2:
Clinical modifier sudden death
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110071
OMIM 58 600996
MeSH 45 D019571
ICD10 34 I42.8
MedGen 43 C1832931
UMLS 74 C1832931

Summaries for Arrhythmogenic Right Ventricular Dysplasia, Familial, 2

UniProtKB/Swiss-Prot : 76 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 arrhythmogenic right ventricular cardiomyopathy and central core myopathy. 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 Ion channel transport. Affiliated tissues include heart, skin and testes, and related phenotypes are ventricular arrhythmia and dilatation of the ventricular cavity

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.

Description from OMIM: 600996

Related Diseases for Arrhythmogenic Right Ventricular Dysplasia, Familial, 2

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

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

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 arrhythmogenic right ventricular cardiomyopathy 29.0 ANK2 DSP JUP KCNH2 PKP2 RYR1
2 central core myopathy 10.3 RYR1 RYR2 RYR3
3 grover's disease 10.2 DSP JUP
4 epidermolysis bullosa, lethal acantholytic 10.2 DSP JUP
5 palmoplantar keratoderma and woolly hair 10.2 DSP JUP
6 arrhythmogenic right ventricular dysplasia, familial, 4 10.2 HMOX2 PKP2 TGFB3
7 familial periodic paralysis 10.1 KCNJ2 RYR1
8 naxos disease 10.1 DSP JUP PKP2
9 ectodermal dysplasia/skin fragility syndrome 10.1 DSP JUP
10 arrhythmogenic right ventricular dysplasia, familial, 1 10.0 DSP JUP RYR2 TGFB3
11 third-degree atrioventricular block 10.0 KCNE2 SCN5A
12 cardiomyopathy, dilated, with woolly hair and keratoderma 10.0 DSP JUP PKP2 TGFB3
13 left bundle branch hemiblock 9.9 JUP PKP2 SCN5A
14 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 9.9 DSP JUP PKP2 RYR2 TGFB3
15 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 9.9 DSP JUP PKP2 RYR2 TGFB3
16 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 9.9 DSP JUP PKP2 RYR2 TGFB3
17 familial short qt syndrome 9.9 KCNH2 KCNJ2 KCNQ1
18 arrhythmogenic right ventricular dysplasia, familial, 9 9.9 DSP JUP PKP2 RYR2 TGFB3
19 arrhythmogenic right ventricular dysplasia, familial, 8 9.9 DSP JUP PKP2 RYR2 TGFB3
20 brugada syndrome 1 9.9 KCNH2 SCN5A
21 timothy syndrome 9.8 KCNE1 KCNH2 KCNQ1
22 long qt syndrome 9 9.7 KCNJ2 SCN5A
23 long qt syndrome 13 9.7 KCNH2 KCNQ1 SCN5A
24 atrial standstill 1 9.7 DSP JUP PKP2 SCN5A
25 short qt syndrome 9.5 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
26 sudden infant death syndrome 9.5 KCNH2 KCNQ1 RYR2 SCN5A
27 syncope 9.5 KCNH2 KCNJ2 KCNQ1 SCN5A
28 long qt syndrome 12 9.4 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
29 jervell and lange-nielsen syndrome 1 9.4 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
30 atrioventricular block 9.4 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
31 cardiac conduction defect 9.3 DSP KCNH2 KCNQ1 RYR1 RYR2 SCN5A
32 long qt syndrome 3 9.3 ANK2 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
33 familial atrial fibrillation 9.2 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
34 heart conduction disease 9.1 CASQ2 KCNE1 KCNH2 KCNJ2 KCNQ1 RYR2
35 cardiac arrest 9.1 ANK2 CASQ2 DSP KCNH2 KCNQ1 RYR2
36 dilated cardiomyopathy 9.1 DSP JUP KCNH2 KCNQ1 PKP2 RYR2
37 ventricular fibrillation, paroxysmal familial, 1 9.1 DSP KCNE1 KCNE2 KCNH2 KCNQ1 RYR2
38 andersen cardiodysrhythmic periodic paralysis 9.0 ANK2 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
39 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 9.0 ANK2 CASQ2 DSP KCNH2 KCNJ2 KCNQ1
40 long qt syndrome 2 9.0 ANK2 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
41 atrial fibrillation 9.0 ANK2 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
42 brugada syndrome 8.9 ANK2 JUP KCNE1 KCNE2 KCNH2 KCNQ1
43 long qt syndrome 6 8.9 ANK2 CASQ2 KCNE1 KCNE2 KCNH2 KCNJ2
44 long qt syndrome 5 8.9 ANK2 CASQ2 KCNE1 KCNE2 KCNH2 KCNJ2
45 cardiac arrhythmia 8.8 ANK2 JUP KCNE1 KCNE2 KCNH2 KCNJ2
46 long qt syndrome 8.8 ANK2 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
47 heart disease 8.8 DSP KCNE2 KCNH2 KCNJ2 KCNQ1 PKP2
48 catecholaminergic polymorphic ventricular tachycardia 8.7 ANK2 CASQ2 DSP FKBP1B KCNH2 KCNJ2
49 intrinsic cardiomyopathy 8.6 DSP JUP KCNE1 KCNE2 KCNH2 KCNJ2
50 left ventricular noncompaction 8.5 DSP FKBP1A FKBP1B JUP KCNQ1 PKP2

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



Diseases related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 2

Symptoms & Phenotypes for Arrhythmogenic Right Ventricular Dysplasia, Familial, 2

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

33
# Description HPO Frequency HPO Source Accession
1 ventricular arrhythmia 33 HP:0004308
2 dilatation of the ventricular cavity 33 HP:0006698
3 right ventricular cardiomyopathy 33 HP:0011663
4 effort-induced polymorphic ventricular tachycardia 33 HP:0004758

Symptoms via clinical synopsis from OMIM:

58
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

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.31 CASQ2 DSP FKBP1A FKBP1B HMOX2 JUP
2 behavior/neurological MP:0005386 10.2 FKBP1A HMOX2 JUP KCNJ2 KCNQ1 NID1
3 growth/size/body region MP:0005378 10.1 CASQ2 DSP FKBP1A JUP KCNE2 KCNH2
4 homeostasis/metabolism MP:0005376 10.07 CASQ2 FKBP1A FKBP1B HMOX2 JUP KCNE2
5 embryo MP:0005380 9.97 CASQ2 DSP FKBP1A JUP KCNH2 RYR2
6 mortality/aging MP:0010768 9.97 CASQ2 DSP FKBP1A FKBP1B HMOX2 JUP
7 digestive/alimentary MP:0005381 9.95 DSP HMOX2 KCNE2 KCNJ2 KCNQ1 RYR1
8 muscle MP:0005369 9.83 CASQ2 DSP FKBP1A FKBP1B HMOX2 JUP
9 nervous system MP:0003631 9.32 DSP FKBP1A HMOX2 JUP KCNQ1 NID1

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

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

Genetic Tests for Arrhythmogenic Right Ventricular Dysplasia, Familial, 2

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

# Genetic test Affiliating Genes
1 Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 30 RYR2

Anatomical Context for Arrhythmogenic Right Ventricular Dysplasia, Familial, 2

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

42
Heart, Skin, Testes

Publications for Arrhythmogenic Right Ventricular Dysplasia, Familial, 2

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

# Title Authors Year
1
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. ( 27854360 )
2017
2
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. ( 25356965 )
2015
3
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. ( 23788249 )
2013
4
Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes. ( 23994779 )
2013
5
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). ( 21810866 )
2011
6
Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). ( 11159936 )
2001

Variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 2

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

76
# 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

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

6 (show top 50) (show all 53)
# Gene Variation Type Significance SNP ID Assembly Location
1 RYR2 NM_001035.2(RYR2): c.7157A> T (p.Asn2386Ile) single nucleotide variant Pathogenic rs121918601 GRCh37 Chromosome 1, 237804238: 237804238
2 RYR2 NM_001035.2(RYR2): c.7157A> T (p.Asn2386Ile) single nucleotide variant Pathogenic rs121918601 GRCh38 Chromosome 1, 237640938: 237640938
3 RYR2 NM_001035.2(RYR2): c.1298T> C (p.Leu433Pro) single nucleotide variant Pathogenic rs121918602 GRCh37 Chromosome 1, 237617696: 237617696
4 RYR2 NM_001035.2(RYR2): c.1298T> C (p.Leu433Pro) single nucleotide variant Pathogenic rs121918602 GRCh38 Chromosome 1, 237454396: 237454396
5 RYR2 NM_001035.2(RYR2): c.649A> G (p.Ile217Val) single nucleotide variant Conflicting interpretations of pathogenicity rs200642525 GRCh37 Chromosome 1, 237550653: 237550653
6 RYR2 NM_001035.2(RYR2): c.649A> G (p.Ile217Val) single nucleotide variant Conflicting interpretations of pathogenicity rs200642525 GRCh38 Chromosome 1, 237387353: 237387353
7 RYR2 NM_001035.2(RYR2): c.2755G> A (p.Val919Met) single nucleotide variant Conflicting interpretations of pathogenicity rs201079716 GRCh37 Chromosome 1, 237675024: 237675024
8 RYR2 NM_001035.2(RYR2): c.2755G> A (p.Val919Met) single nucleotide variant Conflicting interpretations of pathogenicity rs201079716 GRCh38 Chromosome 1, 237511724: 237511724
9 RYR2 NM_001035.2(RYR2): c.4465T> C (p.Cys1489Arg) single nucleotide variant Uncertain significance rs200450676 GRCh38 Chromosome 1, 237595526: 237595526
10 RYR2 NM_001035.2(RYR2): c.4465T> C (p.Cys1489Arg) single nucleotide variant Uncertain significance rs200450676 GRCh37 Chromosome 1, 237758826: 237758826
11 RYR2 NM_001035.2(RYR2): c.6320C> T (p.Thr2107Met) single nucleotide variant Uncertain significance rs370331492 GRCh38 Chromosome 1, 237627960: 237627960
12 RYR2 NM_001035.2(RYR2): c.6320C> T (p.Thr2107Met) single nucleotide variant Uncertain significance rs370331492 GRCh37 Chromosome 1, 237791260: 237791260
13 RYR2 NM_001035.2(RYR2): c.13291G> A (p.Glu4431Lys) single nucleotide variant Uncertain significance rs571985775 GRCh37 Chromosome 1, 237949299: 237949299
14 RYR2 NM_001035.2(RYR2): c.13291G> A (p.Glu4431Lys) single nucleotide variant Uncertain significance rs571985775 GRCh38 Chromosome 1, 237785999: 237785999
15 RYR2 NM_001035.2(RYR2): c.1166G> A (p.Arg389His) single nucleotide variant Uncertain significance rs200685968 GRCh38 Chromosome 1, 237441479: 237441479
16 RYR2 NM_001035.2(RYR2): c.1166G> A (p.Arg389His) single nucleotide variant Uncertain significance rs200685968 GRCh37 Chromosome 1, 237604779: 237604779
17 RYR2 NM_001035.2(RYR2): c.1822C> T (p.His608Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs727504718 GRCh38 Chromosome 1, 237491919: 237491919
18 RYR2 NM_001035.2(RYR2): c.1822C> T (p.His608Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs727504718 GRCh37 Chromosome 1, 237655219: 237655219
19 RYR2 NM_001035.2(RYR2): c.239A> G (p.Glu80Gly) single nucleotide variant Uncertain significance rs794728706 GRCh37 Chromosome 1, 237494248: 237494248
20 RYR2 NM_001035.2(RYR2): c.239A> G (p.Glu80Gly) single nucleotide variant Uncertain significance rs794728706 GRCh38 Chromosome 1, 237330948: 237330948
21 RYR2 NM_001035.2(RYR2): c.1258C> T (p.Arg420Trp) single nucleotide variant Pathogenic rs190140598 GRCh38 Chromosome 1, 237445488: 237445488
22 RYR2 NM_001035.2(RYR2): c.1258C> T (p.Arg420Trp) single nucleotide variant Pathogenic rs190140598 GRCh37 Chromosome 1, 237608788: 237608788
23 RYR2 NM_001035.2(RYR2): c.4094C> T (p.Ala1365Val) single nucleotide variant Conflicting interpretations of pathogenicity rs373261115 GRCh37 Chromosome 1, 237754226: 237754226
24 RYR2 NM_001035.2(RYR2): c.4094C> T (p.Ala1365Val) single nucleotide variant Conflicting interpretations of pathogenicity rs373261115 GRCh38 Chromosome 1, 237590926: 237590926
25 RYR2 NM_001035.2(RYR2): c.2306G> T (p.Arg769Leu) single nucleotide variant Uncertain significance rs754901791 GRCh38 Chromosome 1, 237500813: 237500813
26 RYR2 NM_001035.2(RYR2): c.2306G> T (p.Arg769Leu) single nucleotide variant Uncertain significance rs754901791 GRCh37 Chromosome 1, 237664113: 237664113
27 RYR2 NM_001035.2(RYR2): c.2320C> A (p.Pro774Thr) single nucleotide variant Uncertain significance rs780965490 GRCh37 Chromosome 1, 237664127: 237664127
28 RYR2 NM_001035.2(RYR2): c.2320C> A (p.Pro774Thr) single nucleotide variant Uncertain significance rs780965490 GRCh38 Chromosome 1, 237500827: 237500827
29 RYR2 NM_001035.2(RYR2): c.8617C> T (p.Pro2873Ser) single nucleotide variant Uncertain significance rs1031049689 GRCh37 Chromosome 1, 237837422: 237837422
30 RYR2 NM_001035.2(RYR2): c.8617C> T (p.Pro2873Ser) single nucleotide variant Uncertain significance rs1031049689 GRCh38 Chromosome 1, 237674122: 237674122
31 RYR2 NM_001035.2(RYR2): c.724G> A (p.Asp242Asn) single nucleotide variant Uncertain significance rs1060499569 GRCh37 Chromosome 1, 237551434: 237551434
32 RYR2 NM_001035.2(RYR2): c.724G> A (p.Asp242Asn) single nucleotide variant Uncertain significance rs1060499569 GRCh38 Chromosome 1, 237388134: 237388134
33 RYR2 NM_001035.2(RYR2): c.10361G> A (p.Arg3454His) single nucleotide variant Uncertain significance rs1229045575 GRCh37 Chromosome 1, 237880535: 237880535
34 RYR2 NM_001035.2(RYR2): c.10361G> A (p.Arg3454His) single nucleotide variant Uncertain significance rs1229045575 GRCh38 Chromosome 1, 237717235: 237717235
35 RYR2 NM_001035.2(RYR2): c.13412G> C (p.Gly4471Ala) single nucleotide variant Uncertain significance rs1553325274 GRCh37 Chromosome 1, 237951371: 237951371
36 RYR2 NM_001035.2(RYR2): c.13412G> C (p.Gly4471Ala) single nucleotide variant Uncertain significance rs1553325274 GRCh38 Chromosome 1, 237788071: 237788071
37 RYR2 NM_001035.2(RYR2): c.12541G> A (p.Gly4181Arg) single nucleotide variant Uncertain significance rs775477470 GRCh37 Chromosome 1, 237947553: 237947553
38 RYR2 NM_001035.2(RYR2): c.12541G> A (p.Gly4181Arg) single nucleotide variant Uncertain significance rs775477470 GRCh38 Chromosome 1, 237784253: 237784253
39 RYR2 NM_001035.2(RYR2): c.13370A> G (p.Lys4457Arg) single nucleotide variant Uncertain significance rs747584325 GRCh38 Chromosome 1, 237788029: 237788029
40 RYR2 NM_001035.2(RYR2): c.13370A> G (p.Lys4457Arg) single nucleotide variant Uncertain significance rs747584325 GRCh37 Chromosome 1, 237951329: 237951329
41 RYR2 NM_001035.2(RYR2): c.3660T> A (p.Asp1220Glu) single nucleotide variant Uncertain significance rs1019112544 GRCh38 Chromosome 1, 237589854: 237589854
42 RYR2 NM_001035.2(RYR2): c.3660T> A (p.Asp1220Glu) single nucleotide variant Uncertain significance rs1019112544 GRCh37 Chromosome 1, 237753154: 237753154
43 RYR2 NM_001035.2(RYR2): c.1600T> C (p.Tyr534His) single nucleotide variant Uncertain significance rs376007579 GRCh38 Chromosome 1, 237456723: 237456723
44 RYR2 NM_001035.2(RYR2): c.1600T> C (p.Tyr534His) single nucleotide variant Uncertain significance rs376007579 GRCh37 Chromosome 1, 237620023: 237620023
45 RYR2 NM_001035.2(RYR2): c.5585A> G (p.Asp1862Gly) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 237778013: 237778013
46 RYR2 NM_001035.2(RYR2): c.5585A> G (p.Asp1862Gly) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 237614713: 237614713
47 RYR2 NM_001035.2(RYR2): c.1423A> C (p.Lys475Gln) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 237454521: 237454521
48 RYR2 NM_001035.2(RYR2): c.1423A> C (p.Lys475Gln) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 237617821: 237617821
49 RYR2 NM_001035.2(RYR2): c.14048_14049delGAinsAT (p.Arg4683Asn) indel Uncertain significance GRCh37 Chromosome 1, 237961428: 237961429
50 RYR2 NM_001035.2(RYR2): c.14048_14049delGAinsAT (p.Arg4683Asn) indel Uncertain significance GRCh38 Chromosome 1, 237798128: 237798129

Expression for Arrhythmogenic Right Ventricular Dysplasia, Familial, 2

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

Pathways for Arrhythmogenic Right Ventricular Dysplasia, Familial, 2

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

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.38 FKBP1B KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
2
Show member pathways
12.31 FKBP1B RYR1 RYR2 RYR3
3
Show member pathways
12.29 CASQ2 FKBP1A RYR1 RYR2 RYR3
4
Show member pathways
12.2 DSP JUP PKP2 RYR2
5 12.12 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
6
Show member pathways
11.98 KCNE2 KCNJ2 KCNQ1 RYR3
7 11.95 KCNH2 KCNQ1 RYR2 SCN5A
8 11.84 RYR1 RYR2 RYR3
9
Show member pathways
11.43 KCNE1 KCNE2 KCNQ1 SCN5A
10 11.34 RYR1 RYR2 RYR3
11 11.15 ANK2 CASQ2 DSP FKBP1B JUP KCNE1
12 10.78 KCNE1 KCNJ2 KCNQ1
13 10.45 RYR1 RYR2 RYR3

GO Terms for Arrhythmogenic Right Ventricular Dysplasia, Familial, 2

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 9.91 ANK2 KCNE1 KCNE2 KCNQ1
2 cytoplasmic vesicle membrane GO:0030659 9.85 KCNQ1 RYR1 RYR2 RYR3
3 sarcolemma GO:0042383 9.85 ANK2 RYR1 RYR2 RYR3 SCN5A
4 voltage-gated potassium channel complex GO:0008076 9.8 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
5 cell GO:0005623 9.77 RYR1 RYR2 RYR3
6 T-tubule GO:0030315 9.77 ANK2 KCNJ2 RYR1 SCN5A TGFB3
7 cornified envelope GO:0001533 9.74 DSP JUP PKP2
8 smooth endoplasmic reticulum GO:0005790 9.73 KCNJ2 RYR1 RYR2 RYR3
9 sarcoplasmic reticulum GO:0016529 9.73 CASQ2 FKBP1A FKBP1B RYR1 RYR2 RYR3
10 calcium channel complex GO:0034704 9.72 CASQ2 FKBP1B RYR1 RYR2 RYR3
11 desmosome GO:0030057 9.69 DSP JUP PKP2
12 junctional sarcoplasmic reticulum membrane GO:0014701 9.67 CASQ2 RYR1 RYR2
13 intercalated disc GO:0014704 9.63 ANK2 DSP JUP KCNJ2 PKP2 SCN5A
14 fascia adherens GO:0005916 9.58 DSP JUP
15 junctional membrane complex GO:0030314 9.56 CASQ2 RYR1
16 terminal cisterna GO:0014802 9.54 FKBP1A RYR1
17 ryanodine receptor complex GO:1990425 9.52 FKBP1A RYR1
18 sarcoplasmic reticulum membrane GO:0033017 9.43 CASQ2 FKBP1A FKBP1B RYR1 RYR2 RYR3
19 Z disc GO:0030018 9.32 ANK2 CASQ2 FKBP1A FKBP1B JUP KCNE1
20 membrane GO:0016020 10.45 ANK2 DSP FKBP1A FKBP1B HMOX2 JUP
21 integral component of membrane GO:0016021 10.39 FKBP1A HMOX2 KCNE1 KCNE2 KCNH2 KCNJ2
22 plasma membrane GO:0005886 10.35 ANK2 DSP HMOX2 JUP KCNE1 KCNE2
23 cell surface GO:0009986 10 KCNE1 KCNE2 KCNH2 SCN5A TGFB3

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

(show top 50) (show all 69)
# Name GO ID Score Top Affiliating Genes
1 calcium ion transmembrane transport GO:0070588 9.97 FKBP1A RYR1 RYR2 RYR3
2 cellular calcium ion homeostasis GO:0006874 9.95 ANK2 RYR1 RYR2 RYR3
3 cardiac muscle contraction GO:0060048 9.93 CASQ2 KCNH2 KCNQ1 RYR2 SCN5A
4 protein localization to plasma membrane GO:0072659 9.92 ANK2 JUP PKP2
5 cornification GO:0070268 9.91 DSP JUP PKP2
6 release of sequestered calcium ion into cytosol GO:0051209 9.91 FKBP1B RYR1 RYR2 RYR3
7 cellular response to calcium ion GO:0071277 9.89 RYR1 RYR3 SCN5A
8 protein homotetramerization GO:0051289 9.89 KCNJ2 RYR1 RYR3
9 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.89 ANK2 CASQ2 FKBP1B RYR2
10 cellular response to drug GO:0035690 9.88 KCNE2 KCNH2 KCNQ1
11 regulation of cardiac conduction GO:1903779 9.88 CASQ2 FKBP1B RYR1 RYR2 RYR3
12 positive regulation of potassium ion transmembrane transport GO:1901381 9.87 KCNE1 KCNH2 KCNJ2 KCNQ1
13 regulation of cytosolic calcium ion concentration GO:0051480 9.86 FKBP1B RYR1 RYR2
14 skin development GO:0043588 9.86 DSP JUP RYR1
15 potassium ion export across plasma membrane GO:0097623 9.86 KCNE1 KCNE2 KCNH2 KCNQ1
16 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.83 KCNE1 KCNE2 KCNH2 KCNQ1
17 regulation of potassium ion transmembrane transport GO:1901379 9.82 KCNE1 KCNE2 KCNH2
18 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.82 FKBP1B PKP2 RYR2
19 regulation of cardiac muscle cell contraction GO:0086004 9.81 ANK2 KCNJ2 SCN5A
20 negative regulation of ryanodine-sensitive calcium-release channel activity GO:0060315 9.81 CASQ2 FKBP1A FKBP1B
21 membrane repolarization GO:0086009 9.81 KCNE1 KCNE2 KCNH2 KCNQ1
22 atrial cardiac muscle cell action potential GO:0086014 9.8 ANK2 KCNQ1 SCN5A
23 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.8 DSP JUP PKP2 RYR2
24 regulation of heart rate GO:0002027 9.8 ANK2 CASQ2 FKBP1B RYR2 SCN5A
25 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0014808 9.78 FKBP1B RYR1 RYR2
26 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.77 DSP JUP PKP2
27 cardiac muscle cell action potential involved in contraction GO:0086002 9.77 KCNE1 KCNE2 KCNJ2 PKP2 SCN5A
28 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.76 KCNE1 KCNH2 KCNJ2 KCNQ1
29 protein refolding GO:0042026 9.74 FKBP1A FKBP1B
30 calcium-mediated signaling using intracellular calcium source GO:0035584 9.74 FKBP1B RYR2
31 positive regulation of heart rate GO:0010460 9.74 KCNQ1 RYR2
32 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.74 CASQ2 FKBP1B
33 regulation of cardiac muscle contraction GO:0055117 9.73 ANK2 RYR2
34 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.73 FKBP1A FKBP1B
35 membrane depolarization during action potential GO:0086010 9.73 KCNH2 SCN5A
36 positive regulation of sodium ion transport GO:0010765 9.73 PKP2 SCN5A
37 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.73 KCNE1 KCNE2
38 cellular response to caffeine GO:0071313 9.73 CASQ2 RYR1 RYR2 RYR3
39 cellular response to epinephrine stimulus GO:0071872 9.72 KCNQ1 RYR2
40 detection of calcium ion GO:0005513 9.72 CASQ2 RYR2
41 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.72 KCNJ2 SCN5A
42 response to redox state GO:0051775 9.72 FKBP1B RYR2
43 regulation of membrane repolarization GO:0060306 9.72 CASQ2 KCNE2 KCNH2 KCNJ2 KCNQ1
44 protein maturation by protein folding GO:0022417 9.71 FKBP1A FKBP1B
45 response to caffeine GO:0031000 9.71 RYR1 RYR2
46 regulation of cardiac muscle contraction by calcium ion signaling GO:0010882 9.71 ANK2 RYR2
47 regulation of delayed rectifier potassium channel activity GO:1902259 9.7 KCNE1 KCNE2
48 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.7 KCNQ1 SCN5A
49 SA node cell action potential GO:0086015 9.7 ANK2 SCN5A
50 membrane depolarization during SA node cell action potential GO:0086046 9.69 ANK2 SCN5A

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 9.91 KCNQ1 RYR1 RYR2 RYR3 SCN5A
2 ion channel activity GO:0005216 9.85 KCNH2 RYR1 RYR2 SCN5A
3 potassium channel activity GO:0005267 9.83 KCNE1 KCNE2 KCNH2 KCNQ1
4 voltage-gated ion channel activity GO:0005244 9.83 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
5 voltage-gated potassium channel activity GO:0005249 9.8 KCNE1 KCNE2 KCNH2 KCNQ1
6 calcium channel activity GO:0005262 9.78 RYR1 RYR2 RYR3
7 scaffold protein binding GO:0097110 9.76 DSP KCNH2 KCNQ1 SCN5A
8 inward rectifier potassium channel activity GO:0005242 9.71 KCNE2 KCNH2 KCNJ2
9 delayed rectifier potassium channel activity GO:0005251 9.71 KCNE1 KCNE2 KCNH2 KCNQ1
10 calcium-release channel activity GO:0015278 9.65 RYR1 RYR2 RYR3
11 protein kinase A regulatory subunit binding GO:0034237 9.61 KCNQ1 RYR2
12 protein kinase A catalytic subunit binding GO:0034236 9.6 KCNQ1 RYR2
13 calcium channel inhibitor activity GO:0019855 9.59 FKBP1A FKBP1B
14 type I transforming growth factor beta receptor binding GO:0034713 9.58 FKBP1A TGFB3
15 alpha-catenin binding GO:0045294 9.57 JUP PKP2
16 FK506 binding GO:0005528 9.56 FKBP1A FKBP1B
17 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.56 KCNE1 KCNE2 KCNH2 KCNQ1
18 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 9.54 DSP JUP PKP2
19 calcium-induced calcium release activity GO:0048763 9.5 RYR1 RYR2 RYR3
20 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.46 KCNE1 KCNH2 KCNJ2 KCNQ1
21 ion channel binding GO:0044325 9.28 ANK2 FKBP1A FKBP1B KCNE1 KCNE2 KCNQ1
22 ryanodine-sensitive calcium-release channel activity GO:0005219 9.26 FKBP1B RYR1 RYR2 RYR3
23 protein binding GO:0005515 10.48 ANK2 CASQ2 DSP FKBP1A FKBP1B HMOX2
24 calcium ion binding GO:0005509 10.02 CASQ2 NID1 RYR1 RYR2 RYR3

Sources for Arrhythmogenic Right Ventricular Dysplasia, Familial, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....