ARVD9
MCID: ARR023
MIFTS: 45

Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 (ARVD9)

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

Aliases & Classifications for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

MalaCards integrated aliases for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9:

Name: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 57 73 37 71
Arrhythmogenic Right Ventricular Dysplasia 9 57 12 29 13 6 15
Arrhythmogenic Right Ventricular Cardiomyopathy 9 57 12 73
Arvd9 57 12 73
Arvc9 57 12 73
Arrhythmogenic Right Ventricular Cardiomyopathy 9; Arvc9 57
Familial Arrhythmogenic Right Ventricular Dysplasia 9 12
Dysplasia, Arrhythmogenic Right Ventricular, Type 9 39

Characteristics:

OMIM®:

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


HPO:

31
arrhythmogenic right ventricular dysplasia, familial, 9:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110077
OMIM® 57 609040
OMIM Phenotypic Series 57 PS107970
MeSH 44 D019571
ICD10 32 I42.8
MedGen 41 C1836906
UMLS 71 C1836906

Summaries for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

UniProtKB/Swiss-Prot : 73 Arrhythmogenic right ventricular dysplasia, familial, 9: 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, 9, also known as arrhythmogenic right ventricular dysplasia 9, is related to ventricular fibrillation, paroxysmal familial, 1 and emery-dreifuss muscular dystrophy 5, autosomal dominant, and has symptoms including syncope An important gene associated with Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 is PKP2 (Plakophilin 2), and among its related pathways/superpathways are Developmental Biology and Keratinization. Affiliated tissues include heart, and related phenotypes are sudden cardiac death and syncope

Disease Ontology : 12 An arrhythmogenic right ventricular dysplasia that has material basis in heterozygous mutations in the PKP2 gene on chromosome 12p11.

More information from OMIM: 609040 PS107970

Related Diseases for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

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

(show top 50) (show all 73)
# Related Disease Score Top Affiliating Genes
1 ventricular fibrillation, paroxysmal familial, 1 10.1 RYR2 DSP
2 emery-dreifuss muscular dystrophy 5, autosomal dominant 10.1 TMEM43 LMNA
3 emery-dreifuss muscular dystrophy 3, autosomal recessive 10.1 TMEM43 LMNA
4 charcot-marie-tooth disease, axonal, type 2b1 10.1 TMEM43 LMNA
5 subcorneal pustular dermatosis 10.1 DSP DSC3
6 myopathy, x-linked, with postural muscle atrophy 10.1 TMEM43 LMNA
7 emery-dreifuss muscular dystrophy 4, autosomal dominant 10.0 TMEM43 LMNA
8 cardiomyopathy, dilated, 1e 10.0 PKP2 LMNA DSP
9 emery-dreifuss muscular dystrophy 1, x-linked 10.0 TMEM43 LMNA
10 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 10.0 RYR2 PKP2 DSP
11 dystonia 3, torsion, x-linked 10.0 DSC3 DSC2
12 lmna-related dilated cardiomyopathy 10.0 LMNA DSP DSC2
13 hair disease 10.0 LMNA DSP DSC2
14 emery-dreifuss muscular dystrophy 2, autosomal dominant 10.0 TMEM43 LMNA
15 right bundle branch block 10.0 PKP2 DSG2
16 cardiomyopathy, dilated, 1b 9.9 LMNA DSP
17 left ventricular noncompaction 1 9.9 PKP2 JUP
18 grover's disease 9.9 JUP DSP
19 epidermolysis bullosa, lethal acantholytic 9.9 JUP DSP
20 diffuse palmoplantar keratoderma 9.9 JUP DSP
21 brugada syndrome 1 9.9 RYR2 DSG2
22 cardiac conduction defect 9.9 RYR2 LMNA DSP CEP85L
23 restrictive cardiomyopathy 9.8 LMNA DSP DSG2
24 impetigo 9.8 DSG2 DSC3
25 familial atrial fibrillation 9.8 RYR2 PKP2 DSG2
26 atrioventricular block 9.8 RYR2 LMNA
27 familial isolated arrhythmogenic right ventricular dysplasia 9.8 TMEM43 PKP2 DSP DSC2
28 arrhythmogenic right ventricular dysplasia, familial, 13 9.8 TGFB3 RYR2 PKP2 DSP
29 cardiomyopathy, dilated, 1h 9.8 TMEM43 LMNA DSP DSC2
30 cardiomyopathy, dilated, 1a 9.7 TMEM43 LMNA DSP DSC2
31 palmoplantar keratoderma and woolly hair 9.7 JUP DSP DSC2
32 ectodermal dysplasia/skin fragility syndrome 9.7 JUP DSP DSC2
33 long qt syndrome 1 9.7 RYR2 PKP2 DSP DSG2
34 cardiac arrest 9.7 RYR2 DSP DSG2 CEP85L
35 benign chronic pemphigus 9.7 JUP DSP DSC3
36 skin disease 9.6 LMNA DSP DSG2 DSC3
37 cardiac arrhythmia 9.6 RYR2 PKP2 JUP DSP
38 ritter's disease 9.6 DSP DSG2 DSC3 DSC2
39 paraneoplastic pemphigus 9.6 DSP DSG2 DSC3 DSC2
40 bullous skin disease 9.6 DSP DSG2 DSC3 DSC2
41 darier-white disease 9.5 JUP DSP DSC3 DSC2
42 heart disease 9.4 TGFB3 RYR2 PKP2 LMNA DSP
43 pemphigus vulgaris, familial 9.3 JUP DSP DSG2 DSC3
44 arrhythmogenic right ventricular dysplasia, familial, 3 9.3 TGFB3 RYR2 PKP2 DSP DSG2 DSC2
45 arrhythmogenic right ventricular dysplasia, familial, 1 9.2 TGFB3 RYR2 PKP2 DSP DSG2 DSC2
46 pemphigus 9.1 JUP DSP DSG2 DSC3 DSC2
47 left bundle branch hemiblock 9.1 TMEM43 RYR2 PKP2 LMNA DSP DSG2
48 intrinsic cardiomyopathy 9.1 TMEM43 RYR2 PKP2 LMNA DSP DSG2
49 catecholaminergic polymorphic ventricular tachycardia 9.1 TMEM43 RYR2 PKP2 LMNA DSP DSG2
50 heart conduction disease 9.1 TMEM43 RYR2 PKP2 LMNA DSP DSG2

Graphical network of the top 20 diseases related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 9:



Diseases related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

Symptoms & Phenotypes for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

Human phenotypes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 9:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 sudden cardiac death 31 HP:0001645
2 syncope 31 HP:0001279
3 palpitations 31 HP:0001962
4 ventricular arrhythmia 31 HP:0004308
5 dilatation of the ventricular cavity 31 HP:0006698
6 right ventricular cardiomyopathy 31 HP:0011663
7 vascular dilatation 31 HP:0002617

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Cardiovascular Heart:
sudden cardiac death
syncope
palpitations
ventricular arrhythmia
cardiomyopathy, right ventricular
more

Clinical features from OMIM®:

609040 (Updated 05-Mar-2021)

UMLS symptoms related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 9:


syncope

MGI Mouse Phenotypes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 9:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.91 DSC2 DSG2 DSP JUP LMNA PKP2
2 mortality/aging MP:0010768 9.81 DSC3 DSG2 DSP JUP LMNA PKP2
3 muscle MP:0005369 9.43 DSG2 DSP JUP LMNA PKP2 RYR2
4 vision/eye MP:0005391 9.1 DSC2 DSC3 DSG2 DSP LMNA TGFB3

Drugs & Therapeutics for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

Search Clinical Trials , NIH Clinical Center for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

Genetic Tests for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

Genetic tests related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 9:

# Genetic test Affiliating Genes
1 Arrhythmogenic Right Ventricular Dysplasia 9 29 PKP2

Anatomical Context for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

MalaCards organs/tissues related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 9:

40
Heart

Publications for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

Articles related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 9:

# Title Authors PMID Year
1
Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. 57 6
15489853 2004
2
Studying arrhythmogenic right ventricular dysplasia with patient-specific iPSCs. 57
23354045 2013
3
Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2. 57
16549640 2006
4
Requirement of plakophilin 2 for heart morphogenesis and cardiac junction formation. 57
15479741 2004
5
Nuclear particles containing RNA polymerase III complexes associated with the junctional plaque protein plakophilin 2. 57
11416169 2001
6
Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Task Force of the Working Group Myocardial and Pericardial Disease of the European Society of Cardiology and of the Scientific Council on Cardiomyopathies of the International Society and Federation of Cardiology. 57
8142187 1994
7
[Treatment of resistant ventricular tachycardia with endocavitary ablation combined with anti-arrhythmia agents]. 61
3096239 1986

Variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

ClinVar genetic disease variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9:

6 (show top 50) (show all 527)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PKP2 NM_001005242.3(PKP2):c.1170+1G>A SNV Pathogenic 188657 rs786204392 12:33021860-33021860 12:32868926-32868926
2 PKP2 NM_004572.3(PKP2):c.368G>A (p.Trp123Ter) SNV Pathogenic 196395 rs760576804 12:33031446-33031446 12:32878512-32878512
3 PKP2 NM_001005242.2(PKP2):c.148_151del (p.Thr50fs) Deletion Pathogenic 45028 rs397516997 12:33049515-33049518 12:32896581-32896584
4 PKP2 NM_001005242.2(PKP2):c.2066_2071delinsG (p.His689fs) Indel Pathogenic 239956 rs878854710 12:32955433-32955438 12:32802499-32802504
5 PKP2 NM_004572.3(PKP2):c.2146-?_2489+?del Deletion Pathogenic 254051 12:32949043-32955490 12:32796109-32802556
6 PKP2 NM_001005242.3(PKP2):c.2357+1G>A SNV Pathogenic 6757 rs111517471 12:32949042-32949042 12:32796108-32796108
7 PKP2 NM_001005242.3(PKP2):c.2014-1G>C SNV Pathogenic 6756 rs193922674 12:32955491-32955491 12:32802557-32802557
8 PKP2 NM_001005242.3(PKP2):c.235C>T (p.Arg79Ter) SNV Pathogenic 6754 rs121434420 12:33031955-33031955 12:32879021-32879021
9 PKP2 NM_004572.3(PKP2):c.2386T>C (p.Cys796Arg) SNV Pathogenic 201965 rs794729098 12:32949146-32949146 12:32796212-32796212
10 PKP2 NM_001005242.2(PKP2):c.1949_1951delinsATCGCCAAAA (p.Val650fs) Indel Pathogenic 406554 rs1064792929 12:32974352-32974354 12:32821418-32821420
11 PKP2 NM_004572.3(PKP2):c.1757del (p.Leu586fs) Deletion Pathogenic 406545 rs1060501182 12:32977028-32977028 12:32824094-32824094
12 PKP2 NM_004572.3(PKP2):c.275T>A (p.Leu92Ter) SNV Pathogenic 202026 rs763639737 12:33031915-33031915 12:32878981-32878981
13 PKP2 NM_004572.3(PKP2):c.1725_1728dup (p.Arg577fs) Duplication Pathogenic 406551 rs1555143134 12:32977056-32977057 12:32824122-32824123
14 PKP2 NM_004572.3(PKP2):c.837_838del (p.Val280fs) Deletion Pathogenic 202015 rs772220644 12:33030976-33030977 12:32878042-32878043
15 PKP2 NM_001005242.3(PKP2):c.1481G>A (p.Trp494Ter) SNV Pathogenic 36680 rs193922672 12:32994037-32994037 12:32841103-32841103
16 PKP2 NM_001005242.2(PKP2):c.2377del (p.Ser793fs) Deletion Pathogenic 177995 rs727504432 12:32945646-32945646 12:32792712-32792712
17 PKP2 NM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter) SNV Pathogenic 45016 rs372827156 12:33003841-33003841 12:32850907-32850907
18 PKP2 NM_004572.3(PKP2):c.929_951dup (p.His318fs) Duplication Pathogenic 406552 rs1064792927 12:33030862-33030863 12:32877928-32877929
19 PKP2 NC_000012.12:g.(?_32877846)_(32879032_?)del Deletion Pathogenic 417386 12:33030780-33031966 12:32877846-32879032
20 PKP2 NM_004572.3(PKP2):c.1844C>T (p.Ser615Phe) SNV Pathogenic 406555 rs1060501186 12:32975528-32975528 12:32822594-32822594
21 PKP2 NM_004572.3(PKP2):c.1125_1132del (p.Phe376fs) Deletion Pathogenic 202016 rs794729124 12:33021899-33021906 12:32868965-32868972
22 CEP85L NM_002667.5(PLN):c.37_39AGA[1] (p.Arg14del) Microsatellite Pathogenic 44580 rs397516784 6:118880120-118880122 6:118558957-118558959
23 PKP2 NM_004572.3(PKP2):c.68del (p.Gly23fs) Deletion Pathogenic 464431 rs1555149975 12:33049598-33049598 12:32896664-32896664
24 PKP2 NM_001005242.3(PKP2):c.1780C>T (p.Gln594Ter) SNV Pathogenic 45049 rs397517012 12:32975460-32975460 12:32822526-32822526
25 PKP2 NC_000012.11:g.(?_33003694)_(33003913_?)del Deletion Pathogenic 464405 12:33003694-33003913
26 PKP2 NM_004572.3(PKP2):c.775G>T (p.Glu259Ter) SNV Pathogenic 464432 rs1425855043 12:33031039-33031039 12:32878105-32878105
27 PKP2 NM_001005242.3(PKP2):c.2065_2070delinsG (p.His689fs) Indel Pathogenic 45063 rs397517021 12:32955434-32955439 12:32802500-32802505
28 PKP2 NM_001005242.3(PKP2):c.337-2A>T SNV Pathogenic 188654 rs786204389 12:33031479-33031479 12:32878545-32878545
29 PKP2 NM_004572.3(PKP2):c.1252del (p.Ala418fs) Deletion Pathogenic 464409 rs1555145509 12:33003826-33003826 12:32850892-32850892
30 PKP2 NC_000012.11:g.(?_32945338)_(32977116_?)del Deletion Pathogenic 464403 12:32945338-32977116
31 PKP2 NM_004572.3(PKP2):c.2554del (p.Glu852fs) Deletion Pathogenic 464426 rs1353074803 12:32945601-32945601 12:32792667-32792667
32 PKP2 NM_004572.3(PKP2):c.663C>A (p.Tyr221Ter) SNV Pathogenic 201976 rs767987619 12:33031151-33031151 12:32878217-32878217
33 PKP2 NM_001005242.3(PKP2):c.1211dup (p.Val406fs) Duplication Pathogenic 45015 rs397516989 12:33003866-33003867 12:32850932-32850933
34 PKP2 NM_004572.3(PKP2):c.1951C>T (p.Arg651Ter) SNV Pathogenic 201998 rs751288871 12:32975421-32975421 12:32822487-32822487
35 PKP2 NM_004572.3(PKP2):c.1848C>A (p.Tyr616Ter) SNV Pathogenic 518250 rs1486464304 12:32975524-32975524 12:32822590-32822590
36 PKP2 NM_004572.3(PKP2):c.397C>T (p.Gln133Ter) SNV Pathogenic 202027 rs794729132 12:33031417-33031417 12:32878483-32878483
37 PKP2 NM_004572.3(PKP2):c.1952_1955dup (p.Ser652fs) Duplication Pathogenic 45051 rs397517013 12:32975416-32975417 12:32822482-32822483
38 PKP2 NM_004572.3(PKP2):c.951del (p.His318fs) Deletion Pathogenic 533041 rs1555148048 12:33030863-33030863 12:32877929-32877929
39 PKP2 NM_004572.3(PKP2):c.623del (p.Thr208fs) Deletion Pathogenic 202013 rs794729122 12:33031191-33031191 12:32878257-32878257
40 PKP2 NM_004572.3(PKP2):c.2028G>A (p.Trp676Ter) SNV Pathogenic 36682 rs193922673 12:32974407-32974407 12:32821473-32821473
41 PKP2 NM_004572.3(PKP2):c.1542del (p.Lys514fs) Deletion Pathogenic 568301 rs1565586958 12:32994108-32994108 12:32841174-32841174
42 PKP2 NM_004572.3(PKP2):c.224-1639_274del Deletion Pathogenic 572940 12:33031916-33033605 12:32878982-32880671
43 PKP2 NM_004572.3(PKP2):c.1664del (p.Phe555fs) Deletion Pathogenic 202019 rs794729127 12:32993986-32993986 12:32841052-32841052
44 PKP2 NM_004572.3(PKP2):c.499C>T (p.Gln167Ter) SNV Pathogenic 577307 rs1565599473 12:33031315-33031315 12:32878381-32878381
45 PKP2 NM_004572.3(PKP2):c.1566dup (p.Ala523fs) Duplication Pathogenic 580783 rs1565586921 12:32994083-32994084 12:32841149-32841150
46 PKP2 NC_000012.12:g.(?_32824025)_(32824182_?)del Deletion Pathogenic 583904 12:32976959-32977116 12:32824025-32824182
47 PKP2 NC_000012.12:g.(?_32792404)_(32896751_?)del Deletion Pathogenic 584074 12:32945338-33049685 12:32792404-32896751
48 PKP2 NC_000012.12:g.(?_32802383)_(32802576_?)del Deletion Pathogenic 584148 12:32955317-32955510 12:32802383-32802576
49 PKP2 NM_004572.3(PKP2):c.1689-1G>C SNV Pathogenic 201989 rs78897684 12:32977097-32977097 12:32824163-32824163
50 PKP2 NM_004572.3(PKP2):c.2280_2281del (p.Leu762fs) Deletion Pathogenic 640578 rs1592729525 12:32955355-32955356 12:32802421-32802422

UniProtKB/Swiss-Prot genetic disease variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9:

73
# Symbol AA change Variation ID SNP ID
1 PKP2 p.Ser615Phe VAR_021149 rs106050118
2 PKP2 p.Lys654Gln VAR_021150 rs131969051
3 PKP2 p.Cys796Arg VAR_021151 rs794729098
4 PKP2 p.Glu137Lys VAR_065705 rs781739949
5 PKP2 p.Ser169Gly VAR_065706 rs139139859
6 PKP2 p.Phe424Ser VAR_065711 rs397516990
7 PKP2 p.Tyr631Cys VAR_065716 rs106050118
8 PKP2 p.Leu787Phe VAR_065718 rs146268898

Expression for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

Search GEO for disease gene expression data for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9.

Pathways for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

GO Terms for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

Cellular components related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.8 PKP2 JUP DSP DSG2 DSC3 DSC2
2 cell-cell junction GO:0005911 9.73 PKP2 JUP DSP DSG2 DSC3 DSC2
3 intermediate filament GO:0005882 9.67 PKP2 LMNA JUP DSP
4 adherens junction GO:0005912 9.61 PKP2 JUP DSC2
5 intercalated disc GO:0014704 9.55 PKP2 JUP DSP DSG2 DSC2
6 cornified envelope GO:0001533 9.43 PKP2 JUP DSP DSG2 DSC3 DSC2
7 fascia adherens GO:0005916 9.4 JUP DSP
8 desmosome GO:0030057 9.1 PKP2 JUP DSP DSG2 DSC3 DSC2

Biological processes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.85 PKP2 JUP DSG2 DSC3 DSC2
2 keratinization GO:0031424 9.85 PKP2 JUP DSP DSG2 DSC3 DSC2
3 cell-cell adhesion GO:0098609 9.8 PKP2 JUP DSP DSG2 DSC3 DSC2
4 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.69 DSG2 DSC3 DSC2
5 regulation of heart rate by cardiac conduction GO:0086091 9.65 PKP2 JUP DSP DSG2 DSC2
6 cornification GO:0070268 9.63 PKP2 JUP DSP DSG2 DSC3 DSC2
7 desmosome organization GO:0002934 9.58 PKP2 DSP DSG2
8 skin development GO:0043588 9.55 JUP DSP
9 adherens junction organization GO:0034332 9.54 JUP DSP
10 response to progesterone GO:0032570 9.52 TGFB3 DSG2
11 ventricular cardiac muscle cell action potential GO:0086005 9.49 RYR2 PKP2
12 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.48 RYR2 PKP2
13 desmosome assembly GO:0002159 9.43 PKP2 JUP
14 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.35 PKP2 JUP DSP DSG2 DSC2
15 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.1 RYR2 PKP2 JUP DSP DSG2 DSC2

Molecular functions related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.62 RYR2 DSG2 DSC3 DSC2
2 structural molecule activity GO:0005198 9.43 LMNA JUP DSP
3 alpha-catenin binding GO:0045294 9.16 PKP2 JUP
4 cell adhesion molecule binding GO:0050839 9.13 JUP DSP DSG2
5 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 9.02 PKP2 JUP DSP DSG2 DSC2

Sources for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

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
Content
Loading form....