ARVD10
MCID: ARR028
MIFTS: 43

Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 (ARVD10)

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

Aliases & Classifications for Arrhythmogenic Right Ventricular Dysplasia, Familial, 10

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

Name: Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 56 73 71
Arrhythmogenic Right Ventricular Dysplasia 10 56 12 13 15
Arrhythmogenic Right Ventricular Cardiomyopathy 10 56 12 73
Arvd10 56 12 73
Arvc10 56 12 73
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 10 29 6
Arrhythmogenic Right Ventricular Cardiomyopathy 10; Arvc10 56
Familial Arrhythmogenic Right Ventricular Dysplasia 10 12
Dysplasia, Ventricular, Right, Arrhythmogenic, Type 10 39

Characteristics:

OMIM:

56
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:



External Ids:

Disease Ontology 12 DOID:0110081
OMIM 56 610193
OMIM Phenotypic Series 56 PS107970
MeSH 43 D019571
ICD10 32 I42.8
MedGen 41 C1857777
UMLS 71 C1857777

Summaries for Arrhythmogenic Right Ventricular Dysplasia, Familial, 10

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 lung clear cell carcinoma and acantholytic acanthoma. 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 testes, and related phenotypes are sudden cardiac death and ventricular tachycardia

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

Related Diseases for Arrhythmogenic Right Ventricular Dysplasia, Familial, 10

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

(show top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 lung clear cell carcinoma 9.9 DSC3 DSC2
2 acantholytic acanthoma 9.8 DSC3 DSC2
3 grover's disease 9.7 JUP DSP
4 epidermolysis bullosa, lethal acantholytic 9.7 JUP DSP
5 dystonia 3, torsion, x-linked 9.7 DSC3 DSC2
6 familial atrial fibrillation 9.7 RYR2 PKP2 DSG2
7 diffuse palmoplantar keratoderma 9.7 JUP DSP
8 cardiac arrhythmia 9.7 RYR2 PKP2 JUP
9 ritter's disease 9.7 DSG2 DSC3 DSC2
10 impetigo 9.7 DSG2 DSC3
11 heart conduction disease 9.6 RYR2 PKP2
12 cardiac conduction defect 9.6 RYR2 DSP
13 ventricular fibrillation, paroxysmal familial, 1 9.5 RYR2 DSP
14 subcorneal pustular dermatosis 9.5 DSP DSC3
15 palmoplantar keratoderma and woolly hair 9.5 JUP DSP DSC2
16 ectodermal dysplasia/skin fragility syndrome 9.5 JUP DSP DSC2
17 arrhythmogenic right ventricular dysplasia, familial, 13 9.4 RYR2 PKP2 DSP
18 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 9.4 RYR2 PKP2 DSP
19 skin disease 9.4 DSP DSG2 DSC3
20 long qt syndrome 1 9.4 RYR2 PKP2 DSP
21 naxos disease 9.2 PKP2 JUP DSP DSC2
22 rare cardiomyopathy 9.2 RYR2 PKP2 DSP DSG2
23 paraneoplastic pemphigus 9.1 DSP DSG2 DSC3 DSC2
24 bullous skin disease 9.1 DSP DSG2 DSC3 DSC2
25 cellulitis 9.1 DSP DSG2 DSC3 DSC2
26 pemphigus vulgaris, familial 9.1 JUP DSP DSG2 DSC3
27 darier-white disease 9.0 JUP DSP DSC3 DSC2
28 arrhythmogenic right ventricular dysplasia, familial, 3 8.9 RYR2 PKP2 DSP DSG2 DSC2
29 catecholaminergic polymorphic ventricular tachycardia 8.8 TMEM43 RYR2 PKP2 DSP DSG2
30 heart disease 8.8 RYR2 PKP2 DSP DSG2 DSC2
31 cardiac arrest 8.8 TMEM43 RYR2 DSP DSG2 DSC2
32 benign chronic pemphigus 8.8 JUP DSP DSG2 DSC3 DSC2
33 pemphigus 8.8 JUP DSP DSG2 DSC3 DSC2
34 leopard syndrome 8.6 TMEM43 PKP2 JUP DSP DSG2 DSC2
35 atrial standstill 1 8.6 RYR2 PKP2 JUP DSP DSG2 DSC2
36 arrhythmogenic right ventricular dysplasia, familial, 1 8.5 TMEM43 RYR2 PKP2 JUP DSP DSG2
37 long qt syndrome 8.5 TMEM43 RYR2 PKP2 DSP DSG2 DSC2
38 palmoplantar keratosis 8.5 PKP2 JUP DSP DSG2 DSC3 DSC2
39 arrhythmogenic right ventricular dysplasia, familial, 12 8.4 TMEM43 RYR2 PKP2 JUP DSG2 DSC3
40 arrhythmogenic right ventricular dysplasia, familial, 11 8.4 TMEM43 RYR2 PKP2 JUP DSG2 DSC3
41 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 8.2 TMEM43 RYR2 PKP2 JUP DSP DSG2
42 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 8.2 TMEM43 RYR2 PKP2 JUP DSP DSG2
43 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 8.2 TMEM43 RYR2 PKP2 JUP DSP DSG2
44 left bundle branch hemiblock 8.2 TMEM43 RYR2 PKP2 JUP DSP DSG2
45 intrinsic cardiomyopathy 8.2 TMEM43 RYR2 PKP2 JUP DSP DSG2
46 arrhythmogenic right ventricular dysplasia, familial, 6 8.2 TMEM43 RYR2 PKP2 JUP DSP DSG2
47 arrhythmogenic right ventricular dysplasia, familial, 4 8.2 TMEM43 RYR2 PKP2 JUP DSP DSG2
48 arrhythmogenic right ventricular dysplasia, familial, 2 8.2 TMEM43 RYR2 PKP2 JUP DSP DSG2
49 left ventricular noncompaction 8.2 TMEM43 RYR2 PKP2 JUP DSP DSG2
50 arrhythmogenic right ventricular cardiomyopathy 8.2 TMEM43 RYR2 PKP2 JUP DSP DSG2

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



Diseases related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 10

Symptoms & Phenotypes for Arrhythmogenic Right Ventricular Dysplasia, Familial, 10

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 tachycardia 31 HP:0004756
3 ventricular extrasystoles 31 HP:0006682
4 palpitations 31 HP:0001962
5 right ventricular cardiomyopathy 31 HP:0011663

Symptoms via clinical synopsis from OMIM:

56
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

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.7 DSC2 DSG2 DSP JUP PKP2 RYR2
2 mortality/aging MP:0010768 9.5 DSC3 DSG2 DSP JUP PKP2 RYR2
3 muscle MP:0005369 9.02 DSG2 DSP JUP PKP2 RYR2

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

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

Genetic Tests for Arrhythmogenic Right Ventricular Dysplasia, Familial, 10

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

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

Anatomical Context for Arrhythmogenic Right Ventricular Dysplasia, Familial, 10

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

40
Heart, Testes

Publications for Arrhythmogenic Right Ventricular Dysplasia, Familial, 10

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. 56 6
17105751 2007
2
DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy. 6 56
16773573 2006
3
Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy. 56 6
16505173 2006
4
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. 6
27854360 2017
5
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 6
25356965 2015
6
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 6
23788249 2013
7
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). 6
21810866 2011
8
A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy. 6
18678517 2008
9
Arrhythmogenic Right Ventricular Cardiomyopathy 6
20301310 2005
10
[Angiographic findings in arrhythmogenic dysplasia of the right ventricle]. 61
2806789 1989

Variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 10

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

6 (show top 50) (show all 232) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DSG2 NM_001943.5(DSG2):c.918G>A (p.Trp306Ter)SNV Pathogenic 16811 rs121913007 18:29104755-29104755 18:31524792-31524792
2 DSG2 NM_001943.5(DSG2):c.137G>A (p.Arg46Gln)SNV Pathogenic 16812 rs121913008 18:29099821-29099821 18:31519858-31519858
3 DSG2 NM_001943.5(DSG2):c.1520G>A (p.Cys507Tyr)SNV Pathogenic 16813 rs121913009 18:29116261-29116261 18:31536298-31536298
4 DSG2 NM_001943.5(DSG2):c.797A>G (p.Asn266Ser)SNV Pathogenic 16815 rs121913011 18:29104517-29104517 18:31524554-31524554
5 DSG2 NM_001943.5(DSG2):c.523+1G>CSNV Pathogenic 188450 rs553299589 18:29101207-29101207 18:31521244-31521244
6 DSG2 NM_001943.5(DSG2):c.464_465insT (p.Glu156fs)insertion Pathogenic 199822 rs794728091 18:29101147-29101148 18:31521184-31521185
7 DSG2 NM_001943.5(DSG2):c.1750C>T (p.Gln584Ter)SNV Pathogenic 199810 rs794728086 18:29118812-29118812 18:31538849-31538849
8 DSG2 NM_001943.5(DSG2):c.495dup (p.Gly166fs)duplication Pathogenic 280230 rs781532110 18:29101178-29101178 18:31521215-31521215
9 DSG2 NM_001943.5(DSG2):c.621_626del (p.Tyr207_Pro209delinsTer)deletion Pathogenic 466348 rs1555671331 18:29102143-29102148 18:31522180-31522185
10 DSG2 NM_001943.5(DSG2):c.2761_2764dup (p.Thr922fs)duplication Pathogenic 567765 rs1567934720 18:29126110-29126113 18:31546147-31546150
11 DSG2 NM_001943.5(DSG2):c.2817del (p.Tyr940fs)deletion Pathogenic 576810 rs1567934773 18:29126166-29126166 18:31546203-31546203
12 DSG2 NM_001943.5(DSG2):c.3G>A (p.Met1Ile)SNV Pathogenic 657863 18:29078217-29078217 18:31498254-31498254
13 DSG2 NM_001943.5(DSG2):c.871dup (p.Thr291fs)duplication Pathogenic 639905 18:29104708-29104708 18:31524745-31524745
14 DSG2 NM_001943.5(DSG2):c.2257del (p.Ala753fs)deletion Pathogenic 582579 rs1567933176 18:29122738-29122738 18:31542775-31542775
15 DSG2 NM_001943.5(DSG2):c.2533del (p.Lys844_Ile845insTer)deletion Pathogenic/Likely pathogenic 579185 rs1375081885 18:29125882-29125882 18:31545919-31545919
16 DSG2 NM_001943.5(DSG2):c.512_516del (p.Leu171fs)deletion Pathogenic/Likely pathogenic 585218 rs1568105371 18:29101195-29101199 18:31521232-31521236
17 DSG2 NM_001943.5(DSG2):c.2923del (p.Leu974_Val975insTer)deletion Pathogenic/Likely pathogenic 199801 rs794728084 18:29126272-29126272 18:31546309-31546309
18 DSG2 NM_001943.5(DSG2):c.3055_3056AG[2] (p.Glu1020fs)short repeat Pathogenic/Likely pathogenic 199827 rs397516706 18:29126408-29126411 18:31546445-31546448
19 DSG2 NM_001943.5(DSG2):c.146G>A (p.Arg49His)SNV Pathogenic/Likely pathogenic 16810 rs121913006 18:29099830-29099830 18:31519867-31519867
20 DSG2 NM_001943.5(DSG2):c.1880-2A>GSNV Pathogenic/Likely pathogenic 16817 rs397514038 18:29121154-29121154 18:31541191-31541191
21 DSG2 NM_001943.5(DSG2):c.523+2T>CSNV Pathogenic/Likely pathogenic 44321 rs397516709 18:29101208-29101208 18:31521245-31521245
22 DSG2 NM_001943.5(DSG2):c.2434G>T (p.Gly812Cys)SNV Likely pathogenic 16814 rs121913010 18:29125783-29125783 18:31545820-31545820
23 DSG2 NM_001943.5(DSG2):c.523+1G>ASNV Likely pathogenic 188446 rs553299589 18:29101207-29101207 18:31521244-31521244
24 DSG2 NM_001943.5(DSG2):c.690+1G>ASNV Likely pathogenic 410373 rs750176752 18:29102213-29102213 18:31522250-31522250
25 DSG2 NM_001943.5(DSG2):c.1826dup (p.Leu610fs)duplication Likely pathogenic 585217 rs1039633976 18:29118888-29118888 18:31538925-31538925
26 DSG2 NM_001943.5(DSG2):c.691-1G>ASNV Likely pathogenic 466350 rs1555671441 18:29104410-29104410 18:31524447-31524447
27 DSG2 NM_001943.5(DSG2):c.45+1G>ASNV Likely pathogenic 567764 rs1568098570 18:29078260-29078260 18:31498297-31498297
28 DSG2 NM_001943.5(DSG2):c.523+1_523+2deldeletion Likely pathogenic 653370 18:29101207-29101208 18:31521244-31521245
29 DSG2 NM_001943.5(DSG2):c.2004G>A (p.Val668=)SNV Conflicting interpretations of pathogenicity 410369 rs773645222 18:29122485-29122485 18:31542522-31542522
30 DSG2 NM_001943.5(DSG2):c.829-4G>ASNV Conflicting interpretations of pathogenicity 379135 rs376424003 18:29104662-29104662 18:31524699-31524699
31 DSG2 NM_001943.5(DSG2):c.147C>T (p.Arg49=)SNV Conflicting interpretations of pathogenicity 326472 rs531036279 18:29099831-29099831 18:31519868-31519868
32 DSG2 NM_001943.5(DSG2):c.3039C>A (p.Tyr1013Ter)SNV Conflicting interpretations of pathogenicity 392196 rs539821357 18:29126388-29126388 18:31546425-31546425
33 DSG2 NM_001943.5(DSG2):c.1920C>T (p.Gly640=)SNV Conflicting interpretations of pathogenicity 466333 rs775642244 18:29121196-29121196 18:31541233-31541233
34 DSG2 NM_001943.5(DSG2):c.3118G>A (p.Val1040Ile)SNV Conflicting interpretations of pathogenicity 199794 rs201966605 18:29126467-29126467 18:31546504-31546504
35 DSG2 NM_001943.5(DSG2):c.2192A>C (p.Gln731Pro)SNV Conflicting interpretations of pathogenicity 222565 rs202063433 18:29122673-29122673 18:31542710-31542710
36 DSG2 NM_001943.5(DSG2):c.221A>G (p.His74Arg)SNV Conflicting interpretations of pathogenicity 227340 rs201855245 18:29100770-29100770 18:31520807-31520807
37 DSG2 NM_001943.5(DSG2):c.1280+4AG[3]short repeat Conflicting interpretations of pathogenicity 228628 rs876657791 18:29111225-29111226 18:31531262-31531263
38 DSG2 NM_001943.5(DSG2):c.2434G>A (p.Gly812Ser)SNV Conflicting interpretations of pathogenicity 199817 rs121913010 18:29125783-29125783 18:31545820-31545820
39 DSG2 NM_001943.5(DSG2):c.875G>T (p.Arg292Leu)SNV Conflicting interpretations of pathogenicity 199802 rs185821167 18:29104712-29104712 18:31524749-31524749
40 DSG2 NM_001943.5(DSG2):c.880A>G (p.Lys294Glu)SNV Conflicting interpretations of pathogenicity 199803 rs752432726 18:29104717-29104717 18:31524754-31524754
41 DSG2 NM_001943.5(DSG2):c.1072G>A (p.Ala358Thr)SNV Conflicting interpretations of pathogenicity 199805 rs758537946 18:29111007-29111007 18:31531044-31531044
42 DSG2 NM_001943.5(DSG2):c.15G>C (p.Pro5=)SNV Conflicting interpretations of pathogenicity 326470 rs772663614 18:29078229-29078229 18:31498266-31498266
43 DSG2 NM_001943.5(DSG2):c.2470C>T (p.Arg824Cys)SNV Conflicting interpretations of pathogenicity 228633 rs201845396 18:29125819-29125819 18:31545856-31545856
44 DSG2 NM_001943.5(DSG2):c.1847C>T (p.Ala616Val)SNV Conflicting interpretations of pathogenicity 263502 rs375527314 18:29118909-29118909 18:31538946-31538946
45 DSG2 NM_001943.5(DSG2):c.3266G>A (p.Gly1089Asp)SNV Conflicting interpretations of pathogenicity 264574 rs200264407 18:29126615-29126615 18:31546652-31546652
46 DSG2 NM_001943.5(DSG2):c.2780C>T (p.Pro927Leu)SNV Conflicting interpretations of pathogenicity 199819 rs146402368 18:29126129-29126129 18:31546166-31546166
47 DSG2 NM_001943.5(DSG2):c.2906C>T (p.Ala969Val)SNV Conflicting interpretations of pathogenicity 199820 rs373598034 18:29126255-29126255 18:31546292-31546292
48 DSG2 NM_001943.5(DSG2):c.1688T>G (p.Leu563Arg)SNV Conflicting interpretations of pathogenicity 228630 rs780469370 18:29118750-29118750 18:31538787-31538787
49 DSG2 NM_001943.5(DSG2):c.166G>A (p.Val56Met)SNV Conflicting interpretations of pathogenicity 16818 rs121913013 18:29099850-29099850 18:31519887-31519887
50 DSG2 NM_001943.5(DSG2):c.1174G>A (p.Val392Ile)SNV Conflicting interpretations of pathogenicity 36009 rs193922639 18:29111109-29111109 18:31531146-31531146

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

Expression for Arrhythmogenic Right Ventricular Dysplasia, Familial, 10

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

Pathways for Arrhythmogenic Right Ventricular Dysplasia, Familial, 10

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.95 PKP2 JUP DSP DSG2 DSC3 DSC2
2
Show member pathways
11.89 PKP2 JUP DSP DSG2 DSC3 DSC2
3
Show member pathways
11.29 RYR2 PKP2 JUP DSP DSG2 DSC2
4 11.08 RYR2 JUP DSP
5 10.83 JUP DSP

GO Terms for Arrhythmogenic Right Ventricular Dysplasia, Familial, 10

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 RYR2 PKP2 JUP DSP DSG2 DSC3
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 9.61 PKP2 JUP DSP
5 intercalated disc GO:0014704 9.55 PKP2 JUP DSP DSG2 DSC2
6 cell-cell adherens junction GO:0005913 9.54 PKP2 JUP DSC2
7 lateral plasma membrane GO:0016328 9.48 JUP DSG2
8 cornified envelope GO:0001533 9.43 PKP2 JUP DSP DSG2 DSC3 DSC2
9 fascia adherens GO:0005916 9.4 JUP DSP
10 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 14)
# Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 9.85 PKP2 JUP DSP DSG2 DSC3 DSC2
2 cell adhesion GO:0007155 9.8 PKP2 JUP 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 skin development GO:0043588 9.54 JUP DSP
8 adherens junction organization GO:0034332 9.52 JUP DSP
9 ventricular cardiac muscle cell action potential GO:0086005 9.49 RYR2 PKP2
10 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.48 RYR2 PKP2
11 desmosome organization GO:0002934 9.46 DSP DSG2
12 desmosome assembly GO:0002159 9.43 PKP2 JUP
13 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.35 PKP2 JUP DSP DSG2 DSC2
14 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 self-association GO:0043621 9.37 TMEM43 RYR2
3 protein kinase C binding GO:0005080 9.32 PKP2 DSP
4 alpha-catenin binding GO:0045294 9.16 PKP2 JUP
5 cell adhesion molecule binding GO:0050839 9.13 JUP DSP DSG2
6 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, 10

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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