ARVD12
MCID: ARR024
MIFTS: 43

Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 (ARVD12)

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

Aliases & Classifications for Arrhythmogenic Right Ventricular Dysplasia, Familial, 12

MalaCards integrated aliases for Arrhythmogenic Right Ventricular Dysplasia, Familial, 12:

Name: Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 57 72 70
Arrhythmogenic Right Ventricular Dysplasia 12 57 12 13 15
Arrhythmogenic Right Ventricular Cardiomyopathy 12 57 12 72
Arvd12 57 12 72
Arvc12 57 12 72
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 12 29 6
Arrhythmogenic Right Ventricular Cardiomyopathy 12; Arvc12 57
Familial Arrhythmogenic Right Ventricular Dysplasia 12 12
Dysplasia, Ventricular, Right, Arrhythmogenic, Type 12 39

Characteristics:

OMIM®:

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

Miscellaneous:
genetic heterogeneity
allelic to naxos disease


HPO:

31
arrhythmogenic right ventricular dysplasia, familial, 12:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



External Ids:

Disease Ontology 12 DOID:0110083
OMIM® 57 611528
OMIM Phenotypic Series 57 PS107970
MeSH 44 D019571
ICD10 32 I42.8
MedGen 41 C1969081
UMLS 70 C1969081

Summaries for Arrhythmogenic Right Ventricular Dysplasia, Familial, 12

UniProtKB/Swiss-Prot : 72 Arrhythmogenic right ventricular dysplasia, familial, 12: 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, 12, also known as arrhythmogenic right ventricular dysplasia 12, is related to left ventricular noncompaction 1 and palmoplantar keratoderma and woolly hair, and has symptoms including syncope An important gene associated with Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 is JUP (Junction Plakoglobin), and among its related pathways/superpathways are Developmental Biology and Cardiac conduction. Affiliated tissues include heart, and related phenotypes are syncope and ventricular tachycardia

Disease Ontology : 12 An arrhythmogenic right ventricular dysplasia that has material basis in heterozygous mutation in the gene encoding junction plakoglobin (JUP) on chromosome 17q21.

More information from OMIM: 611528 PS107970

Related Diseases for Arrhythmogenic Right Ventricular Dysplasia, Familial, 12

Diseases in the Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 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, 10
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 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, 12 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 70)
# Related Disease Score Top Affiliating Genes
1 left ventricular noncompaction 1 10.3 PKP2 JUP
2 palmoplantar keratoderma and woolly hair 10.2 JUP DSC2
3 ectodermal dysplasia/skin fragility syndrome 10.2 JUP DSC2
4 dystonia 3, torsion, x-linked 10.2 DSC3 DSC2
5 benign chronic pemphigus 10.1 JUP DSC3
6 impetigo 10.1 DSG2 DSC3
7 familial isolated arrhythmogenic right ventricular dysplasia 10.1 TMEM43 PKP2 DSC2
8 darier-white disease 10.1 JUP DSC3 DSC2
9 pemphigus vulgaris, familial 10.1 JUP DSG2 DSC3
10 ritter's disease 10.1 DSG2 DSC3 DSC2
11 paraneoplastic pemphigus 10.1 DSG2 DSC3 DSC2
12 ventricular fibrillation, paroxysmal familial, 1 10.0 RYR2 KCNH2
13 bullous skin disease 10.0 DSG2 DSC3 DSC2
14 central core myopathy 10.0 RYR2 FKBP1B
15 cardiac conduction defect 10.0 RYR2 DSG2
16 congenital structural myopathy 10.0 RYR2 NEBL
17 syncope 10.0 RYR2 KCNH2
18 acute diffuse nephritis 10.0 TGFB3 KCNH2
19 sinoatrial node disease 10.0 RYR2 KCNH2
20 ventricular tachycardia, catecholaminergic polymorphic, 2 10.0 RYR2 FKBP1B
21 long qt syndrome 9 10.0 RYR2 KCNH2
22 brugada syndrome 1 10.0 RYR2 KCNH2
23 arrhythmogenic right ventricular dysplasia, familial, 13 10.0 TGFB3 RYR2 PKP2
24 pemphigus 9.9 JUP DSG2 DSC3 DSC2
25 long qt syndrome 2 9.9 RYR2 PKP2 KCNH2
26 brugada syndrome 4 9.9 KCNH2 CACNB2
27 long qt syndrome 3 9.9 RYR2 KCNH2
28 andersen cardiodysrhythmic periodic paralysis 9.9 RYR2 KCNH2
29 cardiac arrhythmia, ankyrin-b-related 9.8 RYR2 KCNH2
30 cardiac arrhythmia 9.8 RYR2 PKP2 KCNH2 JUP
31 myasthenic syndrome, congenital, 5 9.8 RYR2 KCNH2 FKBP1B
32 palmoplantar keratosis 9.8 PKP2 JUP DSG2 DSC3 DSC2
33 malignant hyperthermia 9.8 RYR2 KCNH2 FKBP1B
34 timothy syndrome 9.7 RYR2 KCNH2 CACNB2
35 short qt syndrome 9.7 RYR2 KCNH2 CACNB2
36 left bundle branch hemiblock 9.7 TMEM43 RYR2 PKP2 DSG2 DSC2
37 neuromuscular junction disease 9.7 RYR2 KCNH2
38 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 9.7 RYR2 PKP2 KCNH2 FKBP1B
39 arrhythmogenic right ventricular dysplasia, familial, 1 9.7 TGFB3 RYR2 PKP2 DSG2 DSC2
40 arrhythmogenic right ventricular dysplasia, familial, 3 9.6 TGFB3 RYR2 PKP2 DSG2 DSC2
41 right bundle branch block 9.6 PKP2 KCNH2 DSG2 CACNB2
42 atrial standstill 1 9.6 TMEM43 RYR2 PKP2 JUP DSG2 DSC2
43 cardiac arrest 9.6 RYR2 KCNH2 DSG2 CACNB2
44 palmoplantar keratoderma, nonepidermolytic 9.5 TMEM43 RYR2 PKP2 JUP DSG2 DSC3
45 intrinsic cardiomyopathy 9.5 TMEM43 RYR2 PKP2 KCNH2 DSG2 DSC2
46 familial atrial fibrillation 9.4 RYR2 PKP2 KCNH2 DSG2 CACNB2
47 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 9.4 TMEM43 TGFB3 RYR2 PKP2 JUP DSG2
48 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 9.4 TMEM43 TGFB3 RYR2 PKP2 JUP DSG2
49 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 9.4 TMEM43 TGFB3 RYR2 PKP2 JUP DSG2
50 arrhythmogenic right ventricular dysplasia, familial, 6 9.4 TMEM43 TGFB3 RYR2 PKP2 JUP DSG2

Graphical network of the top 20 diseases related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 12:



Diseases related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 12

Symptoms & Phenotypes for Arrhythmogenic Right Ventricular Dysplasia, Familial, 12

Human phenotypes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 12:

31
# Description HPO Frequency HPO Source Accession
1 syncope 31 HP:0001279
2 ventricular tachycardia 31 HP:0004756
3 ventricular arrhythmia 31 HP:0004308
4 right ventricular cardiomyopathy 31 HP:0011663

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Cardiovascular Heart:
syncope
cardiomyopathy, right ventricular
fibrofatty replacement of right ventricular myocardium
ventricular arrhythmia (sustained vt)

Skin Nails Hair Hair:
normal hair (no woolly hair)

Skin Nails Hair Skin:
normal skin (no palmoplantar keratoderma)

Clinical features from OMIM®:

611528 (Updated 05-Apr-2021)

UMLS symptoms related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 12:


syncope

MGI Mouse Phenotypes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 12:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.85 CACNB2 DSC2 DSG2 FKBP1B JUP KCNH2
2 mortality/aging MP:0010768 9.65 CACNB2 DSC3 DSG2 FKBP1B JUP KCNH2
3 muscle MP:0005369 9.1 DSG2 FKBP1B JUP KCNH2 PKP2 RYR2

Drugs & Therapeutics for Arrhythmogenic Right Ventricular Dysplasia, Familial, 12

Search Clinical Trials , NIH Clinical Center for Arrhythmogenic Right Ventricular Dysplasia, Familial, 12

Genetic Tests for Arrhythmogenic Right Ventricular Dysplasia, Familial, 12

Genetic tests related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 12:

# Genetic test Affiliating Genes
1 Arrhythmogenic Right Ventricular Cardiomyopathy, Type 12 29 JUP

Anatomical Context for Arrhythmogenic Right Ventricular Dysplasia, Familial, 12

MalaCards organs/tissues related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 12:

40
Heart

Publications for Arrhythmogenic Right Ventricular Dysplasia, Familial, 12

Articles related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 12:

# Title Authors PMID Year
1
A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy. 6 57
17924338 2007
2
Novel founder mutation in French-Canadian families with Naxos disease. 6
28098346 2017
3
PhenoVar: a phenotype-driven approach in clinical genomics for the diagnosis of polymalformative syndromes. 6
24884844 2014
4
Disparate effects of different mutations in plakoglobin on cell mechanical behavior. 6
18937352 2008
5
Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). 6
10902626 2000

Variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 12

ClinVar genetic disease variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 12:

6 (show top 50) (show all 420)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 JUP NM_002230.4(JUP):c.113_115GCA[3] (p.Ser39dup) Microsatellite Pathogenic 13600 rs113994176 GRCh37: 17:39927988-39927989
GRCh38: 17:41771736-41771737
2 JUP NM_002230.4(JUP):c.1807del (p.Val603fs) Deletion Pathogenic 641938 rs1597782553 GRCh37: 17:39914003-39914003
GRCh38: 17:41757751-41757751
3 JUP NM_002230.4(JUP):c.1455_1462del (p.Val486fs) Deletion Pathogenic 659497 rs1597801392 GRCh37: 17:39919270-39919277
GRCh38: 17:41763018-41763025
4 JUP NM_002230.4(JUP):c.545C>A (p.Ser182Ter) SNV Pathogenic 857898 GRCh37: 17:39925383-39925383
GRCh38: 17:41769131-41769131
5 JUP NC_000017.11:g.(?_41771637)_(41771864_?)del Deletion Pathogenic 831627 GRCh37: 17:39927889-39928116
GRCh38:
6 JUP NM_002230.4(JUP):c.182dup (p.Tyr61Ter) Duplication Pathogenic 1032043 GRCh37: 17:39927924-39927925
GRCh38: 17:41771672-41771673
7 JUP NM_002230.4(JUP):c.902A>G (p.Glu301Gly) SNV Likely pathogenic 222662 rs782058451 GRCh37: 17:39923638-39923638
GRCh38: 17:41767386-41767386
8 JUP NM_002230.4(JUP):c.1924+1G>A SNV Likely pathogenic 641014 rs1597781765 GRCh37: 17:39913885-39913885
GRCh38: 17:41757633-41757633
9 JUP NM_002230.4(JUP):c.208+1G>A SNV Likely pathogenic 663513 rs373761090 GRCh37: 17:39927898-39927898
GRCh38: 17:41771646-41771646
10 JUP NM_002230.4(JUP):c.682A>G (p.Ile228Val) SNV Uncertain significance 663602 rs374566089 GRCh37: 17:39925246-39925246
GRCh38: 17:41768994-41768994
11 JUP NM_002230.4(JUP):c.997C>T (p.Arg333Cys) SNV Uncertain significance 663767 rs782031185 GRCh37: 17:39921232-39921232
GRCh38: 17:41764980-41764980
12 JUP NM_002230.4(JUP):c.148G>A (p.Gly50Arg) SNV Uncertain significance 664417 rs374008304 GRCh37: 17:39927959-39927959
GRCh38: 17:41771707-41771707
13 JUP NM_002230.4(JUP):c.298C>T (p.Leu100Phe) SNV Uncertain significance 468752 rs1555605883 GRCh37: 17:39925840-39925840
GRCh38: 17:41769588-41769588
14 JUP NM_002230.4(JUP):c.193G>A (p.Val65Met) SNV Uncertain significance 660124 rs727503100 GRCh37: 17:39927914-39927914
GRCh38: 17:41771662-41771662
15 JUP NM_002230.4(JUP):c.136G>A (p.Asp46Asn) SNV Uncertain significance 660738 rs782308879 GRCh37: 17:39927971-39927971
GRCh38: 17:41771719-41771719
16 JUP NM_002230.4(JUP):c.1990G>A (p.Val664Met) SNV Uncertain significance 662884 rs782695128 GRCh37: 17:39913723-39913723
GRCh38: 17:41757471-41757471
17 JUP NM_002230.4(JUP):c.652G>C (p.Gly218Arg) SNV Uncertain significance 643312 rs1597823588 GRCh37: 17:39925276-39925276
GRCh38: 17:41769024-41769024
18 JUP NM_002230.4(JUP):c.455A>G (p.Asn152Ser) SNV Uncertain significance 644232 rs1555605656 GRCh37: 17:39925683-39925683
GRCh38: 17:41769431-41769431
19 JUP NM_002230.4(JUP):c.1318C>T (p.His440Tyr) SNV Uncertain significance 647192 rs1555602228 GRCh37: 17:39919414-39919414
GRCh38: 17:41763162-41763162
20 JUP NM_002230.4(JUP):c.1430G>A (p.Arg477His) SNV Uncertain significance 647686 rs781788038 GRCh37: 17:39919302-39919302
GRCh38: 17:41763050-41763050
21 JUP NM_002230.4(JUP):c.1996G>T (p.Val666Leu) SNV Uncertain significance 648451 rs372369061 GRCh37: 17:39913717-39913717
GRCh38: 17:41757465-41757465
22 JUP NM_002230.4(JUP):c.926A>T (p.Asn309Ile) SNV Uncertain significance 649802 rs140606359 GRCh37: 17:39921303-39921303
GRCh38: 17:41765051-41765051
23 JUP NM_002230.4(JUP):c.928G>A (p.Gly310Ser) SNV Uncertain significance 652325 rs1597808505 GRCh37: 17:39921301-39921301
GRCh38: 17:41765049-41765049
24 JUP NM_002230.4(JUP):c.293G>A (p.Ser98Asn) SNV Uncertain significance 655299 rs1555605891 GRCh37: 17:39925845-39925845
GRCh38: 17:41769593-41769593
25 JUP NM_002230.4(JUP):c.675G>A (p.Ser225=) SNV Uncertain significance 566606 rs782063643 GRCh37: 17:39925253-39925253
GRCh38: 17:41769001-41769001
26 JUP NM_002230.4(JUP):c.406G>T (p.Asp136Tyr) SNV Uncertain significance 567920 rs782392706 GRCh37: 17:39925732-39925732
GRCh38: 17:41769480-41769480
27 JUP NM_002230.4(JUP):c.1787C>T (p.Ser596Leu) SNV Uncertain significance 571117 rs940226194 GRCh37: 17:39914023-39914023
GRCh38: 17:41757771-41757771
28 JUP NM_002230.4(JUP):c.1022G>A (p.Cys341Tyr) SNV Uncertain significance 571400 rs1567812537 GRCh37: 17:39921207-39921207
GRCh38: 17:41764955-41764955
29 JUP NM_002230.4(JUP):c.1618C>T (p.Arg540Cys) SNV Uncertain significance 571627 rs782455234 GRCh37: 17:39915002-39915002
GRCh38: 17:41758750-41758750
30 JUP NM_002230.4(JUP):c.628C>T (p.His210Tyr) SNV Uncertain significance 572872 rs1567818128 GRCh37: 17:39925300-39925300
GRCh38: 17:41769048-41769048
31 JUP NM_002230.4(JUP):c.1379G>A (p.Arg460His) SNV Uncertain significance 45835 rs397517296 GRCh37: 17:39919353-39919353
GRCh38: 17:41763101-41763101
32 JUP NM_002230.3(JUP):c.910_912dup (p.Leu304_Ile305insLeu) Duplication Uncertain significance 576264 rs1567812900 GRCh37: 17:39921317-39921319
GRCh38: 17:41765064-41765065
33 JUP NM_002230.4(JUP):c.746C>T (p.Thr249Met) SNV Uncertain significance 191674 rs377612199 GRCh37: 17:39923794-39923794
GRCh38: 17:41767542-41767542
34 JUP NM_002230.4(JUP):c.2104C>T (p.Arg702Cys) SNV Uncertain significance 577292 rs545547083 GRCh37: 17:39912130-39912130
GRCh38: 17:41755878-41755878
35 JUP NM_002230.4(JUP):c.859A>G (p.Ile287Val) SNV Uncertain significance 577963 rs1567815934 GRCh37: 17:39923681-39923681
GRCh38: 17:41767429-41767429
36 JUP NM_002230.4(JUP):c.403G>C (p.Asp135His) SNV Uncertain significance 640516 rs1555605721 GRCh37: 17:39925735-39925735
GRCh38: 17:41769483-41769483
37 JUP NM_002230.4(JUP):c.1096C>G (p.Pro366Ala) SNV Uncertain significance 858872 GRCh37: 17:39921027-39921027
GRCh38: 17:41764775-41764775
38 JUP NM_002230.4(JUP):c.335A>G (p.Asn112Ser) SNV Uncertain significance 191677 rs372364561 GRCh37: 17:39925803-39925803
GRCh38: 17:41769551-41769551
39 JUP NM_002230.4(JUP):c.262_263delinsAA (p.Ala88Asn) Indel Uncertain significance 863405 GRCh37: 17:39925875-39925876
GRCh38: 17:41769623-41769624
40 JUP NM_002230.4(JUP):c.356C>T (p.Pro119Leu) SNV Uncertain significance 163726 rs376123010 GRCh37: 17:39925782-39925782
GRCh38: 17:41769530-41769530
41 JUP NM_002230.4(JUP):c.1398C>A (p.His466Gln) SNV Uncertain significance 864175 GRCh37: 17:39919334-39919334
GRCh38: 17:41763082-41763082
42 JUP NM_002230.4(JUP):c.467C>T (p.Pro156Leu) SNV Uncertain significance 263731 rs782052422 GRCh37: 17:39925671-39925671
GRCh38: 17:41769419-41769419
43 JUP NM_002230.4(JUP):c.1_6del (p.Met1_Glu2del) Deletion Uncertain significance 835563 GRCh37: 17:39928101-39928106
GRCh38: 17:41771849-41771854
44 JUP NM_002230.4(JUP):c.1394G>A (p.Arg465His) SNV Uncertain significance 836379 GRCh37: 17:39919338-39919338
GRCh38: 17:41763086-41763086
45 JUP NM_002230.4(JUP):c.1805G>A (p.Arg602His) SNV Uncertain significance 837260 GRCh37: 17:39914005-39914005
GRCh38: 17:41757753-41757753
46 JUP NM_002230.4(JUP):c.592G>A (p.Asp198Asn) SNV Uncertain significance 846661 GRCh37: 17:39925336-39925336
GRCh38: 17:41769084-41769084
47 JUP NM_002230.4(JUP):c.1069C>G (p.Leu357Val) SNV Uncertain significance 853091 GRCh37: 17:39921054-39921054
GRCh38: 17:41764802-41764802
48 JUP NM_002230.4(JUP):c.884T>C (p.Leu295Pro) SNV Uncertain significance 855662 GRCh37: 17:39923656-39923656
GRCh38: 17:41767404-41767404
49 JUP NM_002230.4(JUP):c.754A>G (p.Asn252Asp) SNV Uncertain significance 855914 GRCh37: 17:39923786-39923786
GRCh38: 17:41767534-41767534
50 JUP NM_002230.4(JUP):c.707+5C>A SNV Uncertain significance 855950 GRCh37: 17:39925216-39925216
GRCh38: 17:41768964-41768964

Expression for Arrhythmogenic Right Ventricular Dysplasia, Familial, 12

Search GEO for disease gene expression data for Arrhythmogenic Right Ventricular Dysplasia, Familial, 12.

Pathways for Arrhythmogenic Right Ventricular Dysplasia, Familial, 12

GO Terms for Arrhythmogenic Right Ventricular Dysplasia, Familial, 12

Cellular components related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.13 ZYX TGFB3 RYR2 PKP2 KCNH2 JUP
2 cell junction GO:0030054 9.88 ZYX PKP2 JUP DSG2 DSC3 DSC2
3 adherens junction GO:0005912 9.67 ZYX PKP2 JUP DSC2
4 cell-cell junction GO:0005911 9.65 PKP2 JUP DSG2 DSC3 DSC2
5 Z disc GO:0030018 9.62 RYR2 NEBL JUP FKBP1B
6 sarcoplasmic reticulum membrane GO:0033017 9.48 RYR2 FKBP1B
7 calcium channel complex GO:0034704 9.46 RYR2 FKBP1B
8 intercalated disc GO:0014704 9.46 PKP2 JUP DSG2 DSC2
9 cornified envelope GO:0001533 9.35 PKP2 JUP DSG2 DSC3 DSC2
10 desmosome GO:0030057 9.02 PKP2 JUP DSG2 DSC3 DSC2

Biological processes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.93 ZYX PKP2 JUP DSG2 DSC3 DSC2
2 keratinization GO:0031424 9.77 PKP2 JUP DSG2 DSC3 DSC2
3 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.74 DSG2 DSC3 DSC2
4 protein localization to plasma membrane GO:0072659 9.72 PKP2 JUP CACNB2
5 cell-cell adhesion GO:0098609 9.72 PKP2 JUP DSG2 DSC3 DSC2
6 cornification GO:0070268 9.65 PKP2 JUP DSG2 DSC3 DSC2
7 ventricular cardiac muscle cell action potential GO:0086005 9.61 RYR2 PKP2 KCNH2
8 response to progesterone GO:0032570 9.6 TGFB3 DSG2
9 regulation of cytosolic calcium ion concentration GO:0051480 9.59 RYR2 FKBP1B
10 release of sequestered calcium ion into cytosol GO:0051209 9.58 RYR2 FKBP1B
11 regulation of heart rate GO:0002027 9.58 RYR2 FKBP1B
12 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.58 RYR2 PKP2 FKBP1B
13 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.56 RYR2 FKBP1B
14 calcium-mediated signaling using intracellular calcium source GO:0035584 9.54 RYR2 FKBP1B
15 response to redox state GO:0051775 9.52 RYR2 FKBP1B
16 desmosome organization GO:0002934 9.51 PKP2 DSG2
17 desmosome assembly GO:0002159 9.49 PKP2 JUP
18 positive regulation of sequestering of calcium ion GO:0051284 9.48 RYR2 FKBP1B
19 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.46 PKP2 JUP DSG2 DSC2
20 regulation of heart rate by cardiac conduction GO:0086091 9.43 PKP2 KCNH2 JUP DSG2 DSC2 CACNB2
21 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.02 RYR2 PKP2 JUP DSG2 DSC2

Molecular functions related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion channel binding GO:0044325 9.43 RYR2 PKP2 FKBP1B
2 alpha-catenin binding GO:0045294 9.16 PKP2 JUP
3 ryanodine-sensitive calcium-release channel activity GO:0005219 8.96 RYR2 FKBP1B
4 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 8.92 PKP2 JUP DSG2 DSC2

Sources for Arrhythmogenic Right Ventricular Dysplasia, Familial, 12

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