ARVD8
MCID: ARR050
MIFTS: 44

Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 (ARVD8)

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

Aliases & Classifications for Arrhythmogenic Right Ventricular Dysplasia, Familial, 8

MalaCards integrated aliases for Arrhythmogenic Right Ventricular Dysplasia, Familial, 8:

Name: Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 57 73 71
Arrhythmogenic Right Ventricular Dysplasia 8 57 12 29 13 6 15
Arrhythmogenic Right Ventricular Cardiomyopathy 8 57 12 73
Arvd8 57 12 73
Arvc8 57 12 73
Arrhythmogenic Right Ventricular Cardiomyopathy 8; Arvc8 57
Familial Arrhythmogenic Right Ventricular Dysplasia 8 12
Dysplasia, Ventricular, Right, Arrhythmogenic, Type 8 39

Characteristics:

OMIM®:

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

Miscellaneous:
genetic heterogeneity


HPO:

31
arrhythmogenic right ventricular dysplasia, familial, 8:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



External Ids:

Disease Ontology 12 DOID:0110076
OMIM® 57 607450
OMIM Phenotypic Series 57 PS107970
MeSH 44 D019571
ICD10 32 I42.8
MedGen 41 C1843896
UMLS 71 C1843896

Summaries for Arrhythmogenic Right Ventricular Dysplasia, Familial, 8

OMIM® : 57 ARVD8 is characterized by progressive degeneration of the right ventricular myocardium. Patients may experience life-threatening cardiac arrhythmias and show depolarization, conduction, and repolarization defects on electrocardiography (Rampazzo et al., 2002). For a general phenotypic description and a discussion of genetic heterogeneity of ARVD, see 107970. (607450) (Updated 05-Mar-2021)

MalaCards based summary : Arrhythmogenic Right Ventricular Dysplasia, Familial, 8, also known as arrhythmogenic right ventricular dysplasia 8, is related to ventricular fibrillation, paroxysmal familial, 1 and lmna-related dilated cardiomyopathy. An important gene associated with Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 is DSP (Desmoplakin), and among its related pathways/superpathways are Developmental Biology and Arrhythmogenic right ventricular cardiomyopathy. Affiliated tissues include heart, and related phenotypes are sudden cardiac death and congestive heart failure

Disease Ontology : 12 An arrhythmogenic right ventricular dysplasia that has material basis in heterozygous mutation in the gene encoding desmoplakin (DSP) on chromosome 6p24.

UniProtKB/Swiss-Prot : 73 Arrhythmogenic right ventricular dysplasia, familial, 8: 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.

Related Diseases for Arrhythmogenic Right Ventricular Dysplasia, Familial, 8

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

(show top 50) (show all 63)
# Related Disease Score Top Affiliating Genes
1 ventricular fibrillation, paroxysmal familial, 1 10.2 RYR2 DSP
2 lmna-related dilated cardiomyopathy 10.2 DSP DSC2
3 grover's disease 10.2 JUP DSP
4 epidermolysis bullosa, lethal acantholytic 10.1 JUP DSP
5 diffuse palmoplantar keratoderma 10.1 JUP DSP
6 left ventricular noncompaction 1 10.1 PKP2 JUP
7 cardiac conduction defect 10.1 RYR2 DSP
8 subcorneal pustular dermatosis 10.1 DSP DSC3
9 right bundle branch block 10.1 PKP2 DSG2
10 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 10.1 RYR2 PKP2 DSP
11 dystonia 3, torsion, x-linked 10.0 DSC3 DSC2
12 cardiomyopathy, dilated, 1h 10.0 TMEM43 DSP DSC2
13 cardiomyopathy, dilated, 1a 10.0 TMEM43 DSP DSC2
14 cardiac arrest 10.0 RYR2 DSP DSG2
15 palmoplantar keratoderma and woolly hair 10.0 JUP DSP DSC2
16 impetigo 10.0 DSG2 DSC3
17 familial atrial fibrillation 10.0 RYR2 PKP2 DSG2
18 brugada syndrome 1 9.9 RYR2 DSG2
19 familial isolated arrhythmogenic right ventricular dysplasia 9.9 TMEM43 PKP2 DSP DSC2
20 long qt syndrome 1 9.9 RYR2 PKP2 DSP DSG2
21 benign chronic pemphigus 9.9 JUP DSP DSC3
22 epidermolysis bullosa simplex with mottled pigmentation 9.9 PKP1 DSP
23 ectodermal dysplasia 9.8 PKP1 DSP DSC2
24 cardiac arrhythmia 9.8 RYR2 PKP2 JUP DSP
25 ritter's disease 9.8 DSP DSG2 DSC3 DSC2
26 paraneoplastic pemphigus 9.8 DSP DSG2 DSC3 DSC2
27 epidermolysis bullosa simplex, dowling-meara type 9.8 PKP1 DSP
28 darier-white disease 9.7 JUP DSP DSC3 DSC2
29 pemphigus vulgaris, familial 9.7 JUP DSP DSG2 DSC3
30 palmoplantar keratoderma, epidermolytic 9.6 PKP1 DSP
31 ectodermal dysplasia/skin fragility syndrome 9.6 PKP1 JUP DSP DSC2
32 arrhythmogenic right ventricular dysplasia, familial, 3 9.6 TGFB3 RYR2 PKP2 DSP DSG2 DSC2
33 left bundle branch hemiblock 9.6 TMEM43 RYR2 PKP2 DSP DSG2 DSC2
34 arrhythmogenic right ventricular dysplasia, familial, 1 9.6 TGFB3 RYR2 PKP2 DSP DSG2 DSC2
35 intrinsic cardiomyopathy 9.6 TMEM43 RYR2 PKP2 DSP DSG2 DSC2
36 catecholaminergic polymorphic ventricular tachycardia 9.6 TMEM43 RYR2 PKP2 DSP DSG2 DSC2
37 arrhythmogenic right ventricular dysplasia, familial, 13 9.6 TGFB3 RYR2 RPSA PKP2 DSP
38 heart conduction disease 9.6 TMEM43 RYR2 PKP2 DSP DSG2 DSC2
39 long qt syndrome 9.5 TMEM43 RYR2 PKP2 DSP DSG2 DSC2
40 bullous skin disease 9.4 PKP1 DSP DSG2 DSC3 DSC2
41 atrial standstill 1 9.3 TMEM43 RYR2 PKP2 JUP DSP DSG2
42 pemphigus 9.1 PKP1 JUP DSP DSG2 DSC3 DSC2
43 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 9.1 TMEM43 TGFB3 RYR2 PKP2 JUP DSP
44 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 9.1 TMEM43 TGFB3 RYR2 PKP2 JUP DSP
45 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 9.1 TMEM43 TGFB3 RYR2 PKP2 JUP DSP
46 arrhythmogenic right ventricular dysplasia, familial, 6 9.1 TMEM43 TGFB3 RYR2 PKP2 JUP DSP
47 arrhythmogenic right ventricular dysplasia, familial, 4 9.1 TMEM43 TGFB3 RYR2 PKP2 JUP DSP
48 arrhythmogenic right ventricular cardiomyopathy 9.1 TMEM43 TGFB3 RYR2 PKP2 JUP DSP
49 hypertrophic cardiomyopathy 9.1 TMEM43 TGFB3 RYR2 PKP2 JUP DSP
50 arrhythmogenic right ventricular dysplasia, familial, 2 9.1 TMEM43 TGFB3 RYR2 PKP2 DSP DSG2

Graphical network of the top 20 diseases related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 8:



Diseases related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 8

Symptoms & Phenotypes for Arrhythmogenic Right Ventricular Dysplasia, Familial, 8

Human phenotypes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 8:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 sudden cardiac death 31 HP:0001645
2 congestive heart failure 31 HP:0001635
3 ventricular extrasystoles 31 HP:0006682
4 ventricular tachycardia 31 HP:0004756
5 ventricular fibrillation 31 HP:0001663
6 right ventricular cardiomyopathy 31 HP:0011663

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Cardiovascular Heart:
sudden cardiac death
cardiomyopathy, right ventricular
heart failure
ventricular arrhythmia (pvc, vt, and vf)

Clinical features from OMIM®:

607450 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 8:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.61 DSC2 DSG2 DSP JUP PKP2 RPSA
2 mortality/aging MP:0010768 9.32 DSC3 DSG2 DSP JUP PKP1 PKP2

Drugs & Therapeutics for Arrhythmogenic Right Ventricular Dysplasia, Familial, 8

Search Clinical Trials , NIH Clinical Center for Arrhythmogenic Right Ventricular Dysplasia, Familial, 8

Genetic Tests for Arrhythmogenic Right Ventricular Dysplasia, Familial, 8

Genetic tests related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 8:

# Genetic test Affiliating Genes
1 Arrhythmogenic Right Ventricular Dysplasia 8 29 DSP

Anatomical Context for Arrhythmogenic Right Ventricular Dysplasia, Familial, 8

MalaCards organs/tissues related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 8:

40
Heart

Publications for Arrhythmogenic Right Ventricular Dysplasia, Familial, 8

Articles related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 8:

# Title Authors PMID Year
1
Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy. 6 57
20864495 2010
2
Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy. 57 6
16917092 2006
3
Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy. 6 57
12373648 2002
4
Genetic bases of arrhythmogenic right ventricular Cardiomyopathy. 61
21977247 2006

Variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 8

ClinVar genetic disease variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 8:

6 (show top 50) (show all 1096)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DSP NM_004415.4(DSP):c.897C>G (p.Ser299Arg) SNV Pathogenic 16838 rs121912992 6:7565711-7565711 6:7565478-7565478
2 DSP NM_004415.4(DSP):c.8501G>A (p.Arg2834His) SNV Pathogenic 16847 rs121912999 6:7585996-7585996 6:7585763-7585763
3 DSP NM_004415.4(DSP):c.939+1G>A SNV Pathogenic 178282 rs727504443 6:7565754-7565754 6:7565521-7565521
4 DSP NM_004415.4(DSP):c.8170C>T (p.Gln2724Ter) SNV Pathogenic 246677 rs879254353 6:7585665-7585665 6:7585432-7585432
5 DSP NM_004415.4(DSP):c.8077_8080del (p.Lys2693fs) Deletion Pathogenic 246676 rs879254352 6:7585570-7585573 6:7585337-7585340
6 DSP NM_004415.4(DSP):c.5680_5683del (p.Ser1894fs) Deletion Pathogenic 405232 rs774763657 6:7583174-7583177 6:7582941-7582944
7 DSP NM_004415.4(DSP):c.268C>T (p.Gln90Ter) SNV Pathogenic 265102 rs886039343 6:7556048-7556048 6:7555815-7555815
8 DSP NM_004415.4(DSP):c.2602C>T (p.Gln868Ter) SNV Pathogenic 405248 rs1060500618 6:7575693-7575693 6:7575460-7575460
9 DSP NM_004415.4(DSP):c.5745dup (p.Lys1916Ter) Duplication Pathogenic 405223 rs1060500607 6:7583239-7583240 6:7583006-7583007
10 DSP NM_004415.4(DSP):c.1883del (p.Gly628fs) Deletion Pathogenic 405237 rs1060500613 6:7571796-7571796 6:7571563-7571563
11 DSP NM_004415.4(DSP):c.3735_3741dup (p.Asp1248fs) Duplication Pathogenic 199923 rs1554108152 6:7580155-7580156 6:7579922-7579923
12 DSP NM_004415.4(DSP):c.478C>T (p.Arg160Ter) SNV Pathogenic 44922 rs397516943 6:7559514-7559514 6:7559281-7559281
13 DSP NM_004415.4(DSP):c.3337C>T (p.Arg1113Ter) SNV Pathogenic 405247 rs746877365 6:7579760-7579760 6:7579527-7579527
14 DSP NM_004415.4(DSP):c.4822C>T (p.Gln1608Ter) SNV Pathogenic 405234 rs1060500610 6:7581245-7581245 6:7581012-7581012
15 DSP NM_004415.4(DSP):c.3133C>T (p.Arg1045Ter) SNV Pathogenic 464961 rs1554108012 6:7579556-7579556 6:7579323-7579323
16 DSP NM_004415.4(DSP):c.4531C>T (p.Gln1511Ter) SNV Pathogenic 44914 rs397516940 6:7580954-7580954 6:7580721-7580721
17 DSP NM_004415.4(DSP):c.5851C>T (p.Arg1951Ter) SNV Pathogenic 222582 rs869025395 6:7583346-7583346 6:7583113-7583113
18 DSP NM_004415.4(DSP):c.5460dup (p.Val1821fs) Duplication Pathogenic 464966 rs1554108609 6:7582952-7582953 6:7582719-7582720
19 DSP NM_004415.4(DSP):c.2947_2948del (p.Thr983fs) Deletion Pathogenic 464959 rs1554107839 6:7578081-7578082 6:7577848-7577849
20 DSP NM_004415.4(DSP):c.1058_1059CT[1] (p.Leu354fs) Microsatellite Pathogenic 464956 rs1249913357 6:7567600-7567601 6:7567367-7567368
21 DSP NM_004415.4(DSP):c.3348T>A (p.Tyr1116Ter) SNV Pathogenic 464962 rs772646601 6:7579771-7579771 6:7579538-7579538
22 DSP NM_004415.4(DSP):c.465del (p.Ile156fs) Deletion Pathogenic 464964 rs1554105911 6:7559500-7559500 6:7559267-7559267
23 DSP NM_004415.4(DSP):c.699G>A (p.Trp233Ter) SNV Pathogenic 44946 rs397516955 6:7562986-7562986 6:7562753-7562753
24 DSP NM_004415.4(DSP):c.4305_4309del (p.Thr1436fs) Deletion Pathogenic 464963 rs1554108287 6:7580728-7580732 6:7580495-7580499
25 DSP NM_004415.4(DSP):c.1162del (p.Thr388fs) Deletion Pathogenic 464957 rs1554106742 6:7568035-7568035 6:7567802-7567802
26 DSP NM_004415.4(DSP):c.3044_3047dup (p.Phe1016fs) Duplication Pathogenic 464960 rs1554107916 6:7578754-7578755 6:7578521-7578522
27 DSP NM_004415.4(DSP):c.5460_5466del (p.Val1821fs) Deletion Pathogenic 464965 rs1554108610 6:7582955-7582961 6:7582722-7582728
28 DSP NM_004415.4(DSP):c.5665_5666GA[4] (p.Lys1892fs) Microsatellite Pathogenic 464968 rs1487814687 6:7583160-7583161 6:7582927-7582928
29 DSP NM_004415.4(DSP):c.6091_6092del (p.Leu2031fs) Deletion Pathogenic 16844 rs397514040 6:7583585-7583586 6:7583352-7583353
30 DSP NM_004415.4(DSP):c.1182del (p.Leu395fs) Deletion Pathogenic 464958 rs1554106743 6:7568052-7568052 6:7567819-7567819
31 DSP NM_004415.4(DSP):c.928dup (p.Glu310fs) Duplication Pathogenic 199916 rs794728137 6:7565740-7565741 6:7565507-7565508
32 DSP NM_004415.4(DSP):c.4395T>G (p.Tyr1465Ter) SNV Pathogenic 534281 rs1236464864 6:7580818-7580818 6:7580585-7580585
33 DSP NM_004415.4(DSP):c.4372C>T (p.Arg1458Ter) SNV Pathogenic 534283 rs28763965 6:7580795-7580795 6:7580562-7580562
34 DSP NM_004415.4(DSP):c.5269C>T (p.Gln1757Ter) SNV Pathogenic 534275 rs1554108477 6:7581692-7581692 6:7581459-7581459
35 DSP NM_004415.4(DSP):c.4882_4886delinsTTCT (p.Arg1628fs) Indel Pathogenic 452266 rs1554108410 6:7581305-7581309 6:7581072-7581076
36 DSP NM_004415.4(DSP):c.6496C>T (p.Arg2166Ter) SNV Pathogenic 199903 rs141026028 6:7583991-7583991 6:7583758-7583758
37 DSP NM_004415.4(DSP):c.6581_6582CA[1] (p.His2195fs) Microsatellite Pathogenic 565543 rs1561702771 6:7584076-7584077 6:7583843-7583844
38 DSP NM_004415.4(DSP):c.1282dup (p.Ile428fs) Duplication Pathogenic 565816 rs1561687796 6:7568681-7568682 6:7568448-7568449
39 DSP NM_004415.4(DSP):c.329_330delinsAA (p.Cys110Ter) Indel Pathogenic 566602 rs1561680649 6:7558404-7558405 6:7558171-7558172
40 DSP NM_004415.4(DSP):c.3241G>T (p.Glu1081Ter) SNV Pathogenic 489339 rs1554108050 6:7579664-7579664 6:7579431-7579431
41 DSP NM_004415.4(DSP):c.5771_5772CA[1] (p.Gln1925fs) Microsatellite Pathogenic 569376 rs1561701401 6:7583265-7583266 6:7583032-7583033
42 DSP NM_004415.4(DSP):c.4999C>T (p.Gln1667Ter) SNV Pathogenic 488983 rs1554108431 6:7581422-7581422 6:7581189-7581189
43 DSP NM_004415.4(DSP):c.4180C>T (p.Gln1394Ter) SNV Pathogenic 162505 rs140474226 6:7580603-7580603 6:7580370-7580370
44 DSP NM_004415.4(DSP):c.7075del (p.Ile2359fs) Deletion Pathogenic 571455 rs1561703363 6:7584570-7584570 6:7584337-7584337
45 DSP NM_004415.4(DSP):c.2497C>T (p.Gln833Ter) SNV Pathogenic 572718 rs1561693779 6:7575588-7575588 6:7575355-7575355
46 DSP NM_004415.4(DSP):c.3126_3127delinsT (p.Arg1042fs) Indel Pathogenic 572780 rs1561696970 6:7579549-7579550 6:7579316-7579317
47 DSP NM_004415.4(DSP):c.4037_4041del (p.Asn1346fs) Deletion Pathogenic 570298 rs1561698362 6:7580458-7580462 6:7580225-7580229
48 DSP NM_004415.4(DSP):c.3290_3291dup (p.Asp1098Ter) Duplication Pathogenic 570474 rs1561697181 6:7579712-7579713 6:7579479-7579480
49 DSP NM_004415.4(DSP):c.7872_7873CA[1] (p.Thr2625fs) Microsatellite Pathogenic 574161 rs1561704475 6:7585366-7585367 6:7585133-7585134
50 DSP NM_004415.4(DSP):c.5212C>T (p.Arg1738Ter) SNV Pathogenic 199890 rs794728124 6:7581635-7581635 6:7581402-7581402

UniProtKB/Swiss-Prot genetic disease variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 8:

73
# Symbol AA change Variation ID SNP ID
1 DSP p.Arg1255Lys VAR_023814 rs777407386
2 DSP p.Ile445Val VAR_065693 rs934142779

Expression for Arrhythmogenic Right Ventricular Dysplasia, Familial, 8

Search GEO for disease gene expression data for Arrhythmogenic Right Ventricular Dysplasia, Familial, 8.

Pathways for Arrhythmogenic Right Ventricular Dysplasia, Familial, 8

Pathways related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.01 PKP2 PKP1 JUP DSP DSG2 DSC3
2 11.62 RYR2 PKP2 JUP DSP DSG2 DSC2
3
Show member pathways
11.62 PKP2 PKP1 JUP DSP DSG2 DSC3
4
Show member pathways
11.61 PKP1 DSP DSG2
5
Show member pathways
11.53 PKP2 PKP1 DSP
6 11.08 RYR2 JUP DSP
7 10.91 JUP DSP

GO Terms for Arrhythmogenic Right Ventricular Dysplasia, Familial, 8

Cellular components related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.18 TGFB3 RYR2 RPSA PKP2 PKP1 JUP
2 cell junction GO:0030054 9.87 PKP2 PKP1 JUP DSP DSG2 DSC3
3 cell-cell junction GO:0005911 9.73 PKP2 JUP DSP DSG2 DSC3 DSC2
4 intermediate filament GO:0005882 9.71 PKP2 PKP1 JUP DSP
5 adherens junction GO:0005912 9.67 PKP2 PKP1 JUP DSC2
6 intercalated disc GO:0014704 9.55 PKP2 JUP DSP DSG2 DSC2
7 cornified envelope GO:0001533 9.5 PKP2 PKP1 JUP DSP DSG2 DSC3
8 messenger ribonucleoprotein complex GO:1990124 9.46 PKP2 PKP1
9 fascia adherens GO:0005916 9.43 JUP DSP
10 desmosome GO:0030057 9.17 PKP2 PKP1 JUP DSP DSG2 DSC3

Biological processes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.98 RPSA PKP2 PKP1 JUP DSG2 DSC3
2 keratinization GO:0031424 9.87 PKP2 PKP1 JUP DSP DSG2 DSC3
3 cell-cell adhesion GO:0098609 9.8 PKP2 PKP1 JUP DSP DSG2 DSC3
4 regulation of heart rate by cardiac conduction GO:0086091 9.77 PKP2 JUP DSP DSG2 DSC2
5 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.7 DSG2 DSC3 DSC2
6 cornification GO:0070268 9.7 PKP2 PKP1 JUP DSP DSG2 DSC3
7 desmosome organization GO:0002934 9.58 PKP2 DSP DSG2
8 adherens junction organization GO:0034332 9.56 JUP DSP
9 response to progesterone GO:0032570 9.55 TGFB3 DSG2
10 cell-cell junction assembly GO:0007043 9.54 PKP2 PKP1
11 ventricular cardiac muscle cell action potential GO:0086005 9.51 RYR2 PKP2
12 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.49 RYR2 PKP2
13 intermediate filament bundle assembly GO:0045110 9.48 PKP2 PKP1
14 desmosome assembly GO:0002159 9.46 PKP2 JUP
15 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.35 PKP2 JUP DSP DSG2 DSC2
16 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, 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 alpha-catenin binding GO:0045294 9.26 PKP2 JUP
2 intermediate filament binding GO:0019215 9.16 PKP2 PKP1
3 cell adhesion molecule binding GO:0050839 9.13 JUP DSP DSG2
4 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, 8

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
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