ARVD13
MCID: ARR041
MIFTS: 39

Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 (ARVD13)

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

Aliases & Classifications for Arrhythmogenic Right Ventricular Dysplasia, Familial, 13

MalaCards integrated aliases for Arrhythmogenic Right Ventricular Dysplasia, Familial, 13:

Name: Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 57 72 29 6 70
Arrhythmogenic Right Ventricular Cardiomyopathy 13 57 12 72
Arvd13 57 12 72
Arvc13 57 12 72
Arrhythmogenic Right Ventricular Dysplasia 13 12 15
Dysplasia, Ventricular, Right, Arrhythmogenic, Familial, Type 13 39
Arrhythmogenic Right Ventricular Cardiomyopathy 13; Arvc13 57
Familial Arrhythmogenic Right Ventricular Dysplasia 13 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
based on report of 2 families (last curated january 2014)
evidence of incomplete penetrance in one family


HPO:

31
arrhythmogenic right ventricular dysplasia, familial, 13:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110084
OMIM® 57 615616
OMIM Phenotypic Series 57 PS107970
MeSH 44 D019571
ICD10 32 I42.8
SNOMED-CT via HPO 68 25569003 263681008 6374002
UMLS 70 C3810138

Summaries for Arrhythmogenic Right Ventricular Dysplasia, Familial, 13

OMIM® : 57 Arrhythmogenic right ventricular cardiomyopathy/dysplasia-13 (ARVD13) is characterized by progressive fibrofatty myocardial replacement, primarily of the right ventricle. The main clinical features are structural and functional abnormalities of the ventricles, electrocardiographic depolarization/repolarization changes, reentrant arrhythmias, and sudden death (summary by van Hengel et al., 2013). (615616) (Updated 20-May-2021)

MalaCards based summary : Arrhythmogenic Right Ventricular Dysplasia, Familial, 13, also known as arrhythmogenic right ventricular cardiomyopathy 13, is related to familial isolated arrhythmogenic right ventricular dysplasia and ventricular fibrillation, paroxysmal familial, 1. An important gene associated with Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 is CTNNA3 (Catenin Alpha 3), and among its related pathways/superpathways are Dilated cardiomyopathy and Arrhythmogenic right ventricular cardiomyopathy. Affiliated tissues include heart, and related phenotypes are bundle branch block and ventricular tachycardia

Disease Ontology : 12 An arrhythmogenic right ventricular dysplasia that has material basis in heterozygous mutation in the CTNNA3 gene on chromosome 10q21.

UniProtKB/Swiss-Prot : 72 Arrhythmogenic right ventricular dysplasia, familial, 13: 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, 13

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

(show all 40)
# Related Disease Score Top Affiliating Genes
1 familial isolated arrhythmogenic right ventricular dysplasia 10.0 PKP2 DSP
2 ventricular fibrillation, paroxysmal familial, 1 9.8 RYR2 DSP
3 acute diffuse nephritis 9.8 TGFB3 FN1
4 synovial chondromatosis 9.8 TGFB3 FN1
5 cardiac conduction defect 9.7 RYR2 DSP
6 left bundle branch hemiblock 9.7 RYR2 PKP2 DSP
7 palmoplantar keratoderma, nonepidermolytic 9.7 RYR2 PKP2 DSP
8 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 9.7 RYR2 PKP2 DSP
9 palmoplantar keratosis 9.7 PKP2 DSP
10 cardiac arrhythmia 9.7 RYR2 PKP2 DSP
11 intrinsic cardiomyopathy 9.7 RYR2 PKP2 DSP
12 catecholaminergic polymorphic ventricular tachycardia 9.7 RYR2 PKP2 DSP
13 long qt syndrome 1 9.6 RYR2 PKP2 DSP
14 heart conduction disease 9.6 RYR2 PKP2 DSP
15 atrial standstill 1 9.6 RYR2 PKP2 DSP
16 arrhythmogenic right ventricular dysplasia, familial, 12 9.5 TGFB3 RYR2 PKP2
17 long qt syndrome 9.5 RYR2 PKP2 DSP CTNNA3
18 aortic valve disease 1 9.3 TGFB3 FN1 DSP
19 arrhythmogenic right ventricular dysplasia, familial, 3 9.3 TGFB3 RYR2 PKP2 DSP
20 arrhythmogenic right ventricular dysplasia, familial, 4 9.3 TGFB3 RYR2 PKP2 DSP
21 arrhythmogenic right ventricular dysplasia, familial, 8 9.3 TGFB3 RYR2 PKP2 DSP
22 arrhythmogenic right ventricular dysplasia, familial, 5 9.3 TGFB3 RYR2 PKP2 DSP
23 arrhythmogenic right ventricular dysplasia, familial, 2 9.3 TGFB3 RYR2 PKP2 DSP
24 arrhythmogenic right ventricular dysplasia, familial, 11 9.3 TGFB3 RYR2 PKP2 DSP
25 familial woolly hair syndrome 9.3 TGFB3 RYR2 PKP2 DSP
26 brugada syndrome 9.2 TGFB3 RYR2 PKP2 DSP
27 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 9.2 TGFB3 RYR2 PKP2 DSP CTNNA3
28 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 9.1 TGFB3 RYR2 PKP2 DSP CTNNA3
29 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 9.1 TGFB3 RYR2 PKP2 DSP CTNNA3
30 cardiomyopathy, dilated, with woolly hair and keratoderma 9.1 TGFB3 RYR2 PKP2 DSP CTNNA3
31 naxos disease 9.1 TGFB3 RYR2 PKP2 DSP CTNNA3
32 arrhythmogenic right ventricular dysplasia, familial, 1 9.1 TGFB3 RYR2 PKP2 FRMD4A DSP
33 arrhythmogenic right ventricular dysplasia, familial, 6 9.1 TGFB3 RYR2 PKP2 FRMD4A DSP
34 left ventricular noncompaction 9.1 TGFB3 RYR2 PKP2 DSP CTNNA3
35 arrhythmogenic right ventricular dysplasia, familial, 9 9.1 TGFB3 RYR2 RPSA PKP2 DSP
36 arrhythmogenic right ventricular dysplasia, familial, 10 9.0 TGFB3 RYR2 RPSA PKP2 DSP
37 arrhythmogenic right ventricular cardiomyopathy 8.9 TGFB3 RYR2 PKP2 ITGA8 DSP CTNNA3
38 hypertrophic cardiomyopathy 8.8 TGFB3 RYR2 PKP2 FN1 DSP CTNNA3
39 dilated cardiomyopathy 8.8 TGFB3 RYR2 PKP2 FN1 DSP CTNNA3
40 heart disease 8.7 TGFB3 RYR2 PKP2 FN1 DSP CTNNA3

Graphical network of the top 20 diseases related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 13:



Diseases related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 13

Symptoms & Phenotypes for Arrhythmogenic Right Ventricular Dysplasia, Familial, 13

Human phenotypes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 13:

31
# Description HPO Frequency HPO Source Accession
1 bundle branch block 31 HP:0011710
2 ventricular tachycardia 31 HP:0004756

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Cardiovascular Heart:
ventricular tachycardia, sustained or nonsustained
left bundle-branch block morphology with superior axis deviation
late potentials in the absence of qrs duration greater than 110 ms
right ventricular dilation, mild to severe
kinetic abnormalities of right ventricle
more

Clinical features from OMIM®:

615616 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 13:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.17 CTNNA3 DSP FN1 PKP2 RPSA RYR2

Drugs & Therapeutics for Arrhythmogenic Right Ventricular Dysplasia, Familial, 13

Search Clinical Trials , NIH Clinical Center for Arrhythmogenic Right Ventricular Dysplasia, Familial, 13

Genetic Tests for Arrhythmogenic Right Ventricular Dysplasia, Familial, 13

Genetic tests related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 13:

# Genetic test Affiliating Genes
1 Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 29 CTNNA3

Anatomical Context for Arrhythmogenic Right Ventricular Dysplasia, Familial, 13

MalaCards organs/tissues related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 13:

40
Heart

Publications for Arrhythmogenic Right Ventricular Dysplasia, Familial, 13

Articles related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 13:

# Title Authors PMID Year
1
Mutations in the area composita protein αT-catenin are associated with arrhythmogenic right ventricular cardiomyopathy. 6 57
23136403 2013
2
Demographics and Epidemiology of Sudden Deaths in Young Competitive Athletes: From the United States National Registry. 61
27039955 2016

Variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 13

ClinVar genetic disease variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 13:

6 (show top 50) (show all 238)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CTNNA3 NM_013266.4(CTNNA3):c.281T>A (p.Val94Asp) SNV Pathogenic 100656 rs587777134 GRCh37: 10:69366626-69366626
GRCh38: 10:67606868-67606868
2 CTNNA3 NM_013266.4(CTNNA3):c.2293_2295TTG[1] (p.Leu766del) Microsatellite Pathogenic 100657 rs587777135 GRCh37: 10:67726472-67726474
GRCh38: 10:65966714-65966716
3 CTNNA3 NM_013266.4(CTNNA3):c.1900G>A (p.Glu634Lys) SNV Conflicting interpretations of pathogenicity 240866 rs77165728 GRCh37: 10:67862992-67862992
GRCh38: 10:66103234-66103234
4 CTNNA3 NM_013266.4(CTNNA3):c.2638dup (p.Ile880fs) Duplication Uncertain significance 409025 rs761152565 GRCh37: 10:67680137-67680138
GRCh38: 10:65920379-65920380
5 CTNNA3 NM_013266.4(CTNNA3):c.2528A>G (p.His843Arg) SNV Uncertain significance 409022 rs540211204 GRCh37: 10:67680248-67680248
GRCh38: 10:65920490-65920490
6 CTNNA3 NM_013266.4(CTNNA3):c.1894G>A (p.Glu632Lys) SNV Uncertain significance 409011 rs1060502222 GRCh37: 10:67862998-67862998
GRCh38: 10:66103240-66103240
7 CTNNA3 NM_013266.4(CTNNA3):c.2501G>A (p.Arg834Gln) SNV Uncertain significance 409020 rs373081692 GRCh37: 10:67680275-67680275
GRCh38: 10:65920517-65920517
8 CTNNA3 NM_013266.4(CTNNA3):c.974G>C (p.Arg325Pro) SNV Uncertain significance 409023 rs773609785 GRCh37: 10:68940148-68940148
GRCh38: 10:67180390-67180390
9 CTNNA3 NM_013266.4(CTNNA3):c.1120C>T (p.Arg374Cys) SNV Uncertain significance 409012 rs370981751 GRCh37: 10:68535210-68535210
GRCh38: 10:66775452-66775452
10 CTNNA3 NM_013266.4(CTNNA3):c.412C>A (p.Leu138Ile) SNV Uncertain significance 409015 rs899335202 GRCh37: 10:69299308-69299308
GRCh38: 10:67539550-67539550
11 CTNNA3 NM_013266.4(CTNNA3):c.1949G>A (p.Ser650Asn) SNV Uncertain significance 409021 rs1060502223 GRCh37: 10:67862943-67862943
GRCh38: 10:66103185-66103185
12 CTNNA3 NM_013266.4(CTNNA3):c.1790C>T (p.Ser597Leu) SNV Uncertain significance 409024 rs780346090 GRCh37: 10:68040322-68040322
GRCh38: 10:66280564-66280564
13 CTNNA3 NM_013266.4(CTNNA3):c.1507A>C (p.Ile503Leu) SNV Uncertain significance 409019 rs147802834 GRCh37: 10:68280399-68280399
GRCh38: 10:66520641-66520641
14 CTNNA3 NM_013266.4(CTNNA3):c.1883G>A (p.Arg628Gln) SNV Uncertain significance 409016 rs754792055 GRCh37: 10:68040229-68040229
GRCh38: 10:66280471-66280471
15 CTNNA3 NM_013266.4(CTNNA3):c.1532-1G>A SNV Uncertain significance 225331 rs756034227 GRCh37: 10:68139111-68139111
GRCh38: 10:66379353-66379353
16 CTNNA3 Duplication Uncertain significance 474811 GRCh37:
GRCh38: 10:67180297-67180540
17 CTNNA3 NM_013266.4(CTNNA3):c.856C>A (p.Leu286Met) SNV Uncertain significance 474827 rs1554939194 GRCh37: 10:68940266-68940266
GRCh38: 10:67180508-67180508
18 CTNNA3 NM_013266.4(CTNNA3):c.1128+7G>T SNV Uncertain significance 474813 rs200113495 GRCh37: 10:68535195-68535195
GRCh38: 10:66775437-66775437
19 CTNNA3 NM_013266.4(CTNNA3):c.1627C>T (p.Arg543Trp) SNV Uncertain significance 474819 rs372758887 GRCh37: 10:68139015-68139015
GRCh38: 10:66379257-66379257
20 CTNNA3 NC_000010.10:g.(?_68280355)_(68280551_?)dup Duplication Uncertain significance 541669 GRCh37: 10:68280355-68280551
GRCh38: 10:66520597-66520793
21 CTNNA3 NM_013266.4(CTNNA3):c.654G>T (p.Leu218Phe) SNV Uncertain significance 565676 rs371330302 GRCh37: 10:68979554-68979554
GRCh38: 10:67219796-67219796
22 CTNNA3 NM_013266.4(CTNNA3):c.1819G>A (p.Val607Met) SNV Uncertain significance 567790 rs1564836430 GRCh37: 10:68040293-68040293
GRCh38: 10:66280535-66280535
23 CTNNA3 NM_013266.4(CTNNA3):c.1402G>A (p.Ala468Thr) SNV Uncertain significance 568270 rs151007312 GRCh37: 10:68280504-68280504
GRCh38: 10:66520746-66520746
24 CTNNA3 NM_013266.4(CTNNA3):c.398C>T (p.Thr133Met) SNV Uncertain significance 568313 rs763257801 GRCh37: 10:69299322-69299322
GRCh38: 10:67539564-67539564
25 CTNNA3 NM_013266.4(CTNNA3):c.1128+2T>A SNV Uncertain significance 568786 rs1564675010 GRCh37: 10:68535200-68535200
GRCh38: 10:66775442-66775442
26 CTNNA3 NM_013266.4(CTNNA3):c.674G>T (p.Cys225Phe) SNV Uncertain significance 572206 rs747835139 GRCh37: 10:68979534-68979534
GRCh38: 10:67219776-67219776
27 CTNNA3 NM_013266.4(CTNNA3):c.417G>A (p.Ala139=) SNV Uncertain significance 572525 rs1204895034 GRCh37: 10:69299303-69299303
GRCh38: 10:67539545-67539545
28 CTNNA3 NM_013266.4(CTNNA3):c.843+1G>T SNV Uncertain significance 577724 rs1256726247 GRCh37: 10:68979364-68979364
GRCh38: 10:67219606-67219606
29 CTNNA3 NM_013266.4(CTNNA3):c.1186C>G (p.Leu396Val) SNV Uncertain significance 580635 rs376091500 GRCh37: 10:68526117-68526117
GRCh38: 10:66766359-66766359
30 CTNNA3 NM_013266.4(CTNNA3):c.952T>C (p.Ser318Pro) SNV Uncertain significance 581999 rs1564948470 GRCh37: 10:68940170-68940170
GRCh38: 10:67180412-67180412
31 CTNNA3 NC_000010.10:g.(?_68040208)_(68381562_?)dup Duplication Uncertain significance 584233 GRCh37: 10:68040208-68381562
GRCh38: 10:66280450-66621804
32 CTNNA3 NM_013266.4(CTNNA3):c.1571C>G (p.Ala524Gly) SNV Uncertain significance 641043 rs1589162805 GRCh37: 10:68139071-68139071
GRCh38: 10:66379313-66379313
33 CTNNA3 NM_013266.4(CTNNA3):c.1508T>C (p.Ile503Thr) SNV Uncertain significance 642932 rs770318219 GRCh37: 10:68280398-68280398
GRCh38: 10:66520640-66520640
34 CTNNA3 NM_013266.4(CTNNA3):c.2211G>C (p.Met737Ile) SNV Uncertain significance 643288 rs192848934 GRCh37: 10:67748504-67748504
GRCh38: 10:65988746-65988746
35 CTNNA3 NM_013266.4(CTNNA3):c.40C>T (p.Gln14Ter) SNV Uncertain significance 646792 rs1589530547 GRCh37: 10:69407232-69407232
GRCh38: 10:67647474-67647474
36 CTNNA3 NM_013266.4(CTNNA3):c.1451G>A (p.Arg484His) SNV Uncertain significance 648090 rs748621335 GRCh37: 10:68280455-68280455
GRCh38: 10:66520697-66520697
37 CTNNA3 NM_013266.4(CTNNA3):c.1219C>T (p.Arg407Trp) SNV Uncertain significance 651726 rs138643733 GRCh37: 10:68526084-68526084
GRCh38: 10:66766326-66766326
38 CTNNA3 NM_013266.4(CTNNA3):c.100-7A>G SNV Uncertain significance 651942 rs201986002 GRCh37: 10:69366814-69366814
GRCh38: 10:67607056-67607056
39 CTNNA3 NM_013266.4(CTNNA3):c.1000G>A (p.Ala334Thr) SNV Uncertain significance 658695 rs1195868563 GRCh37: 10:68940122-68940122
GRCh38: 10:67180364-67180364
40 CTNNA3 NM_013266.4(CTNNA3):c.99+5T>C SNV Uncertain significance 660288 rs200746095 GRCh37: 10:69407168-69407168
GRCh38: 10:67647410-67647410
41 CTNNA3 NC_000010.10:g.(?_69366605)_(69407286_?)dup Duplication Uncertain significance 661733 GRCh37: 10:69366605-69407286
GRCh38: 10:67606847-67647528
42 CTNNA3 NM_013266.4(CTNNA3):c.2265+1G>C SNV Uncertain significance 665923 rs1589220613 GRCh37: 10:67748449-67748449
GRCh38: 10:65988691-65988691
43 CTNNA3 NM_013266.4(CTNNA3):c.1233A>G (p.Ile411Met) SNV Uncertain significance 474815 rs1554848898 GRCh37: 10:68526070-68526070
GRCh38: 10:66766312-66766312
44 CTNNA3 NM_013266.4(CTNNA3):c.1669A>G (p.Ser557Gly) SNV Uncertain significance 541659 rs768735520 GRCh37: 10:68138973-68138973
GRCh38: 10:66379215-66379215
45 CTNNA3 NM_013266.4(CTNNA3):c.2630A>C (p.Lys877Thr) SNV Uncertain significance 541660 rs781167292 GRCh37: 10:67680146-67680146
GRCh38: 10:65920388-65920388
46 CTNNA3 NM_013266.4(CTNNA3):c.904A>G (p.Lys302Glu) SNV Uncertain significance 541661 rs970349800 GRCh37: 10:68940218-68940218
GRCh38: 10:67180460-67180460
47 CTNNA3 NM_013266.4(CTNNA3):c.1733-1G>C SNV Uncertain significance 541662 rs193155648 GRCh37: 10:68040380-68040380
GRCh38: 10:66280622-66280622
48 CTNNA3 NM_013266.4(CTNNA3):c.2524C>T (p.Arg842Trp) SNV Uncertain significance 541664 rs199852825 GRCh37: 10:67680252-67680252
GRCh38: 10:65920494-65920494
49 CTNNA3 NM_013266.4(CTNNA3):c.1247C>T (p.Ala416Val) SNV Uncertain significance 541665 rs1032740164 GRCh37: 10:68526056-68526056
GRCh38: 10:66766298-66766298
50 CTNNA3 NM_013266.4(CTNNA3):c.1183C>A (p.Pro395Thr) SNV Uncertain significance 541666 rs1554848924 GRCh37: 10:68526120-68526120
GRCh38: 10:66766362-66766362

UniProtKB/Swiss-Prot genetic disease variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 13:

72
# Symbol AA change Variation ID SNP ID
1 CTNNA3 p.Val94Asp VAR_070998 rs587777134

Expression for Arrhythmogenic Right Ventricular Dysplasia, Familial, 13

Search GEO for disease gene expression data for Arrhythmogenic Right Ventricular Dysplasia, Familial, 13.

Pathways for Arrhythmogenic Right Ventricular Dysplasia, Familial, 13

Pathways related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.4 TGFB3 RYR2 ITGA8
2 11.21 RYR2 PKP2 ITGA8 DSP CTNNA3
3 11.07 RYR2 DSP
4 10.86 FN1 CTNNA3
5 10.66 DSP CTNNA3

GO Terms for Arrhythmogenic Right Ventricular Dysplasia, Familial, 13

Cellular components related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intercalated disc GO:0014704 9.32 PKP2 DSP
2 cornified envelope GO:0001533 9.26 PKP2 DSP
3 desmosome GO:0030057 9.16 PKP2 DSP
4 adherens junction GO:0005912 9.13 PKP2 FRMD4A CTNNA3
5 fascia adherens GO:0005916 8.62 DSP CTNNA3

Biological processes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.77 RPSA PKP2 ITGA8 FN1 CTNNA3
2 wound healing GO:0042060 9.58 TGFB3 FN1 DSP
3 cell-cell adhesion GO:0098609 9.56 PKP2 ITGA8 DSP CTNNA3
4 substrate adhesion-dependent cell spreading GO:0034446 9.52 ITGA8 FN1
5 positive regulation of protein secretion GO:0050714 9.51 TGFB3 FRMD4A
6 peptide cross-linking GO:0018149 9.49 FN1 DSP
7 ventricular cardiac muscle cell action potential GO:0086005 9.48 RYR2 PKP2
8 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.46 RYR2 PKP2
9 epithelial cell-cell adhesion GO:0090136 9.43 DSP CTNNA3
10 regulation of heart rate by cardiac conduction GO:0086091 9.33 PKP2 DSP CTNNA3
11 desmosome organization GO:0002934 9.32 PKP2 DSP
12 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.13 PKP2 DSP CTNNA3
13 regulation of ventricular cardiac muscle cell action potential GO:0098911 8.92 RYR2 PKP2 DSP CTNNA3

Molecular functions related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein kinase C binding GO:0005080 8.96 PKP2 DSP
2 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 8.62 PKP2 DSP

Sources for Arrhythmogenic Right Ventricular Dysplasia, Familial, 13

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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