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ARVD10
MCID: ARR028
MIFTS: 42

Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 (ARVD10)

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, 10

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MalaCards integrated aliases for Arrhythmogenic Right Ventricular Dysplasia, Familial, 10:

Name: Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 57 73 71
Arrhythmogenic Right Ventricular Dysplasia 10 57 12 13 15
Arrhythmogenic Right Ventricular Cardiomyopathy 10 57 12 73
Arvd10 57 12 73
Arvc10 57 12 73
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 10 29 6
Arrhythmogenic Right Ventricular Cardiomyopathy 10; Arvc10 57
Familial Arrhythmogenic Right Ventricular Dysplasia 10 12
Dysplasia, Ventricular, Right, Arrhythmogenic, Type 10 39

Characteristics:

OMIM®:

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

Miscellaneous:
genetic heterogeneity
mean age at diagnosis is 38 years(range 11-63 years)


HPO:

31
arrhythmogenic right ventricular dysplasia, familial, 10:
Inheritance autosomal dominant inheritance heterogeneous


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:0110081
OMIM® 57 610193
OMIM Phenotypic Series 57 PS107970
MeSH 44 D019571
ICD10 32 I42.8
MedGen 41 C1857777
UMLS 71 C1857777
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Summaries for Arrhythmogenic Right Ventricular Dysplasia, Familial, 10

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UniProtKB/Swiss-Prot : 73 Arrhythmogenic right ventricular dysplasia, familial, 10: 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, 10, also known as arrhythmogenic right ventricular dysplasia 10, is related to cardiomyopathy, dilated, 1bb and left ventricular noncompaction 1. An important gene associated with Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 is DSG2 (Desmoglein 2), and among its related pathways/superpathways are Developmental Biology and Keratinization. Affiliated tissues include heart, and related phenotypes are sudden cardiac death and ventricular extrasystoles

Disease Ontology : 12 An arrhythmogenic right ventricular dysplasia that has material basis in heterozygous mutation in the desmoglein-2 gene (DSG2) on chromosome 18q12.

More information from OMIM: 610193 PS107970
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Related Diseases for Arrhythmogenic Right Ventricular Dysplasia, Familial, 10

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

(show top 50) (show all 61)
# Related Disease Score Top Affiliating Genes
1 cardiomyopathy, dilated, 1bb 10.2 DSG2-AS1 DSG2
2 left ventricular noncompaction 1 10.1 PKP2 JUP
3 grover's disease 10.0 JUP DSP
4 epidermolysis bullosa, lethal acantholytic 10.0 JUP DSP
5 dystonia 3, torsion, x-linked 10.0 DSC3 DSC2
6 diffuse palmoplantar keratoderma 10.0 JUP DSP
7 impetigo 10.0 DSG2 DSC3
8 right bundle branch block 10.0 PKP2 DSG2
9 subcorneal pustular dermatosis 10.0 DSP DSC3
10 lmna-related dilated cardiomyopathy 10.0 DSP DSC2
11 ventricular fibrillation, paroxysmal familial, 1 9.9 RYR2 DSP
12 familial atrial fibrillation 9.9 RYR2 PKP2 DSG2
13 restrictive cardiomyopathy 9.9 DSP DSG2-AS1 DSG2
14 palmoplantar keratoderma and woolly hair 9.9 JUP DSP DSC2
15 ectodermal dysplasia/skin fragility syndrome 9.9 JUP DSP DSC2
16 benign chronic pemphigus 9.8 JUP DSP DSC3
17 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 9.8 RYR2 PKP2 DSP
18 cardiac conduction defect 9.8 RYR2 DSP
19 cardiac arrest 9.8 RYR2 DSP DSG2
20 brugada syndrome 1 9.8 RYR2 DSG2
21 ritter's disease 9.7 DSP DSG2 DSC3 DSC2
22 paraneoplastic pemphigus 9.7 DSP DSG2 DSC3 DSC2
23 bullous skin disease 9.7 DSP DSG2 DSC3 DSC2
24 pemphigus vulgaris, familial 9.7 JUP DSP DSG2 DSC3
25 long qt syndrome 1 9.7 RYR2 PKP2 DSP DSG2
26 darier-white disease 9.7 JUP DSP DSC3 DSC2
27 cardiac arrhythmia 9.7 RYR2 PKP2 JUP DSP
28 cardiomyopathy, dilated, 1h 9.6 TMEM43 DSP DSC2
29 cardiomyopathy, dilated, 1a 9.6 TMEM43 DSP DSC2
30 pemphigus 9.5 JUP DSP DSG2 DSC3 DSC2
31 familial isolated arrhythmogenic right ventricular dysplasia 9.5 TMEM43 PKP2 DSP DSC2
32 palmoplantar keratosis 9.4 PKP2 JUP DSP DSG2 DSC3 DSC2
33 arrhythmogenic right ventricular dysplasia, familial, 13 9.3 TGFB3 RYR2 RPSA PKP2 DSP
34 arrhythmogenic right ventricular dysplasia, familial, 3 9.2 TGFB3 RYR2 PKP2 DSP DSG2 DSC2
35 arrhythmogenic right ventricular dysplasia, familial, 1 9.2 TGFB3 RYR2 PKP2 DSP DSG2 DSC2
36 left bundle branch hemiblock 9.1 TMEM43 RYR2 PKP2 DSP DSG2 DSC2
37 intrinsic cardiomyopathy 9.1 TMEM43 RYR2 PKP2 DSP DSG2 DSC2
38 catecholaminergic polymorphic ventricular tachycardia 9.1 TMEM43 RYR2 PKP2 DSP DSG2 DSC2
39 heart conduction disease 9.1 TMEM43 RYR2 PKP2 DSP DSG2 DSC2
40 long qt syndrome 9.1 TMEM43 RYR2 PKP2 DSP DSG2 DSC2
41 atrial standstill 1 8.7 TMEM43 RYR2 PKP2 JUP DSP DSG2-AS1
42 palmoplantar keratoderma, nonepidermolytic 8.7 TMEM43 RYR2 PKP2 JUP DSP DSG2
43 arrhythmogenic right ventricular dysplasia, familial, 12 8.6 TMEM43 TGFB3 RYR2 PKP2 JUP DSG2
44 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 8.6 TMEM43 TGFB3 RYR2 PKP2 JUP DSP
45 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 8.6 TMEM43 TGFB3 RYR2 PKP2 JUP DSP
46 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 8.6 TMEM43 TGFB3 RYR2 PKP2 JUP DSP
47 arrhythmogenic right ventricular dysplasia, familial, 6 8.6 TMEM43 TGFB3 RYR2 PKP2 JUP DSP
48 arrhythmogenic right ventricular dysplasia, familial, 4 8.6 TMEM43 TGFB3 RYR2 PKP2 JUP DSP
49 arrhythmogenic right ventricular dysplasia, familial, 2 8.6 TMEM43 TGFB3 RYR2 PKP2 DSP DSG2
50 hypertrophic cardiomyopathy 8.5 TMEM43 TGFB3 RYR2 PKP2 JUP DSP

Graphical network of the top 20 diseases related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 10:



Diseases related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
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Symptoms & Phenotypes for Arrhythmogenic Right Ventricular Dysplasia, Familial, 10

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Human phenotypes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 10:

31
# Description HPO Frequency HPO Source Accession
1 sudden cardiac death 31 HP:0001645
2 ventricular extrasystoles 31 HP:0006682
3 ventricular tachycardia 31 HP:0004756
4 palpitations 31 HP:0001962
5 right ventricular cardiomyopathy 31 HP:0011663

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Cardiovascular Heart:
sudden cardiac death
palpitations
cardiomyopathy, right ventricular
fibrofatty replacement of right ventricular myocardium
ventricular arrhythmia (pvc, nonsustained vt, sustained vt)

Clinical features from OMIM®:

610193 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 10:

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 9.28 DSC3 DSG2 DSP JUP PKP2 RPSA
Sources

Drugs & Therapeutics for Arrhythmogenic Right Ventricular Dysplasia, Familial, 10

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Search Clinical Trials , NIH Clinical Center for Arrhythmogenic Right Ventricular Dysplasia, Familial, 10

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Genetic Tests for Arrhythmogenic Right Ventricular Dysplasia, Familial, 10

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Genetic tests related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 10:

# Genetic test Affiliating Genes
1 Arrhythmogenic Right Ventricular Cardiomyopathy, Type 10 29 DSG2
Sources

Anatomical Context for Arrhythmogenic Right Ventricular Dysplasia, Familial, 10

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MalaCards organs/tissues related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 10:

40
Heart
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Publications for Arrhythmogenic Right Ventricular Dysplasia, Familial, 10

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Articles related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 10:

# Title Authors PMID Year
1
Desmoglein-2 mutations in arrhythmogenic right ventricular cardiomyopathy: a genotype-phenotype characterization of familial disease. 57 6
17105751 2007
2
DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy. 57 6
16773573 2006
3
Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy. 57 6
16505173 2006
4
A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy. 6
18678517 2008
5
[Angiographic findings in arrhythmogenic dysplasia of the right ventricle]. 61
2806789 1989
Sources

Variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 10

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ClinVar genetic disease variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 10:

6 (show top 50) (show all 416)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DSG2 NM_001943.5(DSG2):c.1880-2A>G SNV Pathogenic 16817 rs397514038 18:29121154-29121154 18:31541191-31541191
2 DSG2 NM_001943.5(DSG2):c.797A>G (p.Asn266Ser) SNV Pathogenic 16815 rs121913011 18:29104517-29104517 18:31524554-31524554
3 DSG2 NM_001943.5(DSG2):c.1750C>T (p.Gln584Ter) SNV Pathogenic 199810 rs794728086 18:29118812-29118812 18:31538849-31538849
4 DSG2 NM_001943.5(DSG2):c.523+2T>C SNV Pathogenic 44321 rs397516709 18:29101208-29101208 18:31521245-31521245
5 DSG2 NM_001943.5(DSG2):c.523+1G>C SNV Pathogenic 188450 rs553299589 18:29101207-29101207 18:31521244-31521244
6 DSG2 NM_001943.5(DSG2):c.621_626del (p.Tyr207_Pro209delinsTer) Deletion Pathogenic 466348 rs1555671331 18:29102143-29102148 18:31522180-31522185
7 DSG2-AS1 NM_001943.5(DSG2):c.2761_2764dup (p.Thr922fs) Duplication Pathogenic 567765 rs1567934720 18:29126107-29126108 18:31546144-31546145
8 DSG2-AS1 NM_001943.5(DSG2):c.2923del (p.Leu974_Val975insTer) Deletion Pathogenic 199801 rs794728084 18:29126271-29126271 18:31546308-31546308
9 DSG2-AS1 NM_001943.5(DSG2):c.2817del (p.Tyr940fs) Deletion Pathogenic 576810 rs1567934773 18:29126165-29126165 18:31546202-31546202
10 DSG2-AS1 NM_001943.5(DSG2):c.2257del (p.Ala753fs) Deletion Pathogenic 582579 rs1567933176 18:29122735-29122735 18:31542772-31542772
11 DSG2 NM_001943.5(DSG2):c.871dup (p.Thr291fs) Duplication Pathogenic 639905 rs759944835 18:29104707-29104708 18:31524744-31524745
12 DSG2 NM_001943.5(DSG2):c.464_465insT (p.Glu156fs) Insertion Pathogenic 199822 rs794728091 18:29101147-29101148 18:31521184-31521185
13 DSG2-AS1 NM_001943.5(DSG2):c.3039C>A (p.Tyr1013Ter) SNV Pathogenic 392196 rs539821357 18:29126388-29126388 18:31546425-31546425
14 DSG2 NM_001943.5(DSG2):c.1487dup (p.Cys496fs) Duplication Pathogenic 178852 rs730880347 18:29116227-29116228 18:31536264-31536265
15 DSG2 NM_001943.5(DSG2):c.495dup (p.Gly166fs) Duplication Pathogenic 280230 rs781532110 18:29101176-29101177 18:31521213-31521214
16 DSG2-AS1 NM_001943.5(DSG2):c.2620del (p.Thr874fs) Deletion Pathogenic 835215 18:29125967-29125967 18:31546004-31546004
17 DSG2-AS1 NM_001943.5(DSG2):c.2397T>G (p.Tyr799Ter) SNV Pathogenic 943833 18:29125746-29125746 18:31545783-31545783
18 DSG2 NM_001943.5(DSG2):c.745dup (p.Thr249fs) Duplication Pathogenic 950905 18:29104464-29104465 18:31524501-31524502
19 DSG2 NM_001943.5(DSG2):c.146G>A (p.Arg49His) SNV Pathogenic 16810 rs121913006 18:29099830-29099830 18:31519867-31519867
20 DSG2 NM_001943.5(DSG2):c.918G>A (p.Trp306Ter) SNV Pathogenic 16811 rs121913007 18:29104755-29104755 18:31524792-31524792
21 DSG2 NM_001943.5(DSG2):c.137G>A (p.Arg46Gln) SNV Pathogenic 16812 rs121913008 18:29099821-29099821 18:31519858-31519858
22 DSG2 NM_001943.5(DSG2):c.3G>A (p.Met1Ile) SNV Pathogenic/Likely pathogenic 657863 rs1021457619 18:29078217-29078217 18:31498254-31498254
23 DSG2-AS1 NM_001943.5(DSG2):c.2533del (p.Lys844_Ile845insTer) Deletion Pathogenic/Likely pathogenic 579185 rs1375081885 18:29125877-29125877 18:31545914-31545914
24 DSG2 NM_001943.5(DSG2):c.512_516del (p.Leu171fs) Deletion Pathogenic/Likely pathogenic 585218 rs1568105371 18:29101191-29101195 18:31521228-31521232
25 DSG2 NM_001943.5(DSG2):c.523+1_523+2del Deletion Likely pathogenic 653370 rs1598810829 18:29101207-29101208 18:31521244-31521245
26 DSG2 NM_001943.5(DSG2):c.1826dup (p.Leu610fs) Duplication Likely pathogenic 585217 rs1039633976 18:29118885-29118886 18:31538922-31538923
27 DSG2 NM_001943.5(DSG2):c.45+1G>A SNV Likely pathogenic 567764 rs1568098570 18:29078260-29078260 18:31498297-31498297
28 DSG2 NM_001943.5(DSG2):c.523+1G>A SNV Likely pathogenic 188446 rs553299589 18:29101207-29101207 18:31521244-31521244
29 DSG2 NC_000018.10:g.(?_31519793)_(31519947_?)del Deletion Likely pathogenic 830428 18:29099756-29099910
30 DSG2-AS1 NM_001943.5(DSG2):c.3055_3056AG[2] (p.Glu1020fs) Microsatellite Likely pathogenic 199827 rs397516706 18:29126404-29126407 18:31546441-31546444
31 DSG2 NM_001943.5(DSG2):c.691-1G>A SNV Likely pathogenic 466350 rs1555671441 18:29104410-29104410 18:31524447-31524447
32 DSG2 NM_001943.5(DSG2):c.690+1G>A SNV Likely pathogenic 410373 rs750176752 18:29102213-29102213 18:31522250-31522250
33 DSG2 NM_001943.5(DSG2):c.45+1G>C SNV Likely pathogenic 973533 18:29078260-29078260 18:31498297-31498297
34 DSG2 NM_001943.5(DSG2):c.1317_1318TG[1] (p.Val440fs) Microsatellite Likely pathogenic 666600 rs775256998 18:29115269-29115270 18:31535306-31535307
35 DSG2 NM_001943.5(DSG2):c.1332_1354del (p.Ser445_Glu446insTer) Deletion Likely pathogenic 977602 18:29115282-29115304 18:31535319-31535341
36 DSG2 NM_001943.5(DSG2):c.136C>T (p.Arg46Trp) SNV Likely pathogenic 863095 18:29099820-29099820 18:31519857-31519857
37 DSG2 NM_001943.5(DSG2):c.803_810dup (p.Val271fs) Duplication Likely pathogenic 931696 18:29104522-29104523 18:31524559-31524560
38 DSG2 NM_001943.5(DSG2):c.216+1G>T SNV Likely pathogenic 862906 18:29099901-29099901 18:31519938-31519938
39 DSG2 NM_001943.5(DSG2):c.437G>T (p.Arg146Leu) SNV Conflicting interpretations of pathogenicity 44317 rs113451409 18:29101120-29101120 18:31521157-31521157
40 DSG2 NM_001943.5(DSG2):c.852T>C (p.Asn284=) SNV Conflicting interpretations of pathogenicity 44328 rs62095193 18:29104689-29104689 18:31524726-31524726
41 DSG2-AS1 NM_001943.5(DSG2):c.2780C>T (p.Pro927Leu) SNV Conflicting interpretations of pathogenicity 199819 rs146402368 18:29126129-29126129 18:31546166-31546166
42 DSG2 NM_001943.5(DSG2):c.593A>G (p.Tyr198Cys) SNV Conflicting interpretations of pathogenicity 188451 rs786204291 18:29102115-29102115 18:31522152-31522152
43 DSG2 NM_001943.5(DSG2):c.269C>T (p.Thr90Ile) SNV Conflicting interpretations of pathogenicity 326474 rs772744115 18:29100818-29100818 18:31520855-31520855
44 DSG2 NM_001943.5(DSG2):c.166G>A (p.Val56Met) SNV Conflicting interpretations of pathogenicity 16818 rs121913013 18:29099850-29099850 18:31519887-31519887
45 DSG2-AS1 NM_001943.5(DSG2):c.2484T>C (p.Asp828=) SNV Conflicting interpretations of pathogenicity 178020 rs201051252 18:29125833-29125833 18:31545870-31545870
46 DSG2 NM_001943.5(DSG2):c.1550C>T (p.Ala517Val) SNV Conflicting interpretations of pathogenicity 163210 rs200509948 18:29116291-29116291 18:31536328-31536328
47 DSG2-AS1 NM_001943.5(DSG2):c.2643C>T (p.Thr881=) SNV Conflicting interpretations of pathogenicity 44305 rs180695545 18:29125992-29125992 18:31546029-31546029
48 DSG2 NM_001943.5(DSG2):c.874C>T (p.Arg292Cys) SNV Conflicting interpretations of pathogenicity 466351 rs770921270 18:29104711-29104711 18:31524748-31524748
49 DSG2 NM_001943.5(DSG2):c.45+9C>G SNV Conflicting interpretations of pathogenicity 466343 rs376573409 18:29078268-29078268 18:31498305-31498305
50 DSG2 NM_001943.5(DSG2):c.1851C>T (p.Leu617=) SNV Conflicting interpretations of pathogenicity 44289 rs202057770 18:29118913-29118913 18:31538950-31538950

UniProtKB/Swiss-Prot genetic disease variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 10:

73
# Symbol AA change Variation ID SNP ID
1 DSG2 p.Arg46Gln VAR_029365 rs121913008
2 DSG2 p.Arg49His VAR_029366 rs121913006
3 DSG2 p.Cys507Tyr VAR_029367 rs121913009
4 DSG2 p.Gly812Cys VAR_029368 rs121913010
5 DSG2 p.Thr335Ala VAR_065686 rs191564916

Sources

Expression for Arrhythmogenic Right Ventricular Dysplasia, Familial, 10

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Search GEO for disease gene expression data for Arrhythmogenic Right Ventricular Dysplasia, Familial, 10.
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Pathways for Arrhythmogenic Right Ventricular Dysplasia, Familial, 10

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Pathways related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Developmental Biology 65
Show member pathways
 12.95 PKP2 JUP DSP DSG2 DSC3 DSC2
2
Keratinization 65
Show member pathways
 11.89 PKP2 JUP DSP DSG2 DSC3 DSC2
3
Arrhythmogenic right ventricular cardiomyopathy 36 1
11.29 RYR2 PKP2 JUP DSP DSG2 DSC2
4
Antiarrhythmic Pathway, Pharmacodynamics 60
11.08 RYR2 JUP DSP
5
Cell adhesion_Endothelial cell contacts by junctional mechanisms 23
10.83 JUP DSP
Sources

GO Terms for Arrhythmogenic Right Ventricular Dysplasia, Familial, 10

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Cellular components related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.06 TGFB3 RYR2 RPSA PKP2 JUP DSP
2 cell junction GO:0030054 9.8 PKP2 JUP DSP DSG2 DSC3 DSC2
3 cell-cell junction GO:0005911 9.73 PKP2 JUP DSP DSG2 DSC3 DSC2
4 intermediate filament GO:0005882 9.63 PKP2 JUP DSP
5 adherens junction GO:0005912 9.61 PKP2 JUP DSC2
6 intercalated disc GO:0014704 9.55 PKP2 JUP DSP DSG2 DSC2
7 cornified envelope GO:0001533 9.43 PKP2 JUP DSP DSG2 DSC3 DSC2
8 fascia adherens GO:0005916 9.37 JUP DSP
9 desmosome GO:0030057 9.1 PKP2 JUP DSP DSG2 DSC3 DSC2

Biological processes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.91 RPSA 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 9.46 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, 10 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.56 RYR2 DSG2 DSC3 DSC2
2 protein kinase C binding GO:0005080 9.32 PKP2 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

Sources for Arrhythmogenic Right Ventricular Dysplasia, Familial, 10

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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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