ARVD12
MCID: ARR024
MIFTS: 42

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 73 71
Arrhythmogenic Right Ventricular Dysplasia 12 57 12 13 15
Arrhythmogenic Right Ventricular Cardiomyopathy 12 57 12 73
Arvd12 57 12 73
Arvc12 57 12 73
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-Mar-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 71 C1969081

Summaries for Arrhythmogenic Right Ventricular Dysplasia, Familial, 12

UniProtKB/Swiss-Prot : 73 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, 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, 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 10.2 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 congenital structural myopathy 10.1 RYR2 NEBL
12 paraneoplastic pemphigus 10.1 DSG2 DSC3 DSC2
13 ventricular fibrillation, paroxysmal familial, 1 10.0 RYR2 KCNH2
14 bullous skin disease 10.0 DSG2 DSC3 DSC2
15 central core myopathy 10.0 RYR2 FKBP1B
16 syncope 10.0 RYR2 KCNH2
17 acute diffuse nephritis 10.0 TGFB3 KCNH2
18 sinoatrial node disease 10.0 RYR2 KCNH2
19 ventricular tachycardia, catecholaminergic polymorphic, 2 10.0 RYR2 FKBP1B
20 cardiac conduction defect 10.0 RYR2 KCNH2
21 arrhythmogenic right ventricular dysplasia, familial, 13 10.0 TGFB3 RYR2 PKP2
22 long qt syndrome 3 10.0 RYR2 KCNH2
23 andersen cardiodysrhythmic periodic paralysis 9.9 RYR2 KCNH2
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 cardiac arrhythmia, ankyrin-b-related 9.9 RYR2 KCNH2
28 brugada syndrome 1 9.9 RYR2 KCNH2 DSG2
29 leber congenital amaurosis 2 9.9 RYR2 FKBP1B
30 neuromuscular junction disease 9.8 RYR2 KCNH2
31 cardiac arrhythmia 9.8 RYR2 PKP2 KCNH2 JUP
32 myasthenic syndrome, congenital, 5 9.8 RYR2 KCNH2 FKBP1B
33 palmoplantar keratosis 9.8 PKP2 JUP DSG2 DSC3 DSC2
34 malignant hyperthermia 9.8 RYR2 KCNH2 FKBP1B
35 timothy syndrome 9.7 RYR2 KCNH2 CACNB2
36 short qt syndrome 9.7 RYR2 KCNH2 CACNB2
37 left bundle branch hemiblock 9.7 TMEM43 RYR2 PKP2 DSG2 DSC2
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 9.4 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-Mar-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-Mar-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. 57 6
17924338 2007

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 384)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 JUP NM_002230.4(JUP):c.113_115GCA[3] (p.Ser39dup) Microsatellite Pathogenic 13600 rs113994176 17:39927988-39927989 17:41771736-41771737
2 JUP NM_002230.4(JUP):c.1807del (p.Val603fs) Deletion Pathogenic 641938 rs1597782553 17:39914003-39914003 17:41757751-41757751
3 JUP NM_002230.4(JUP):c.1455_1462del (p.Val486fs) Deletion Pathogenic 659497 rs1597801392 17:39919270-39919277 17:41763018-41763025
4 JUP NM_002230.4(JUP):c.545C>A (p.Ser182Ter) SNV Pathogenic 857898 17:39925383-39925383 17:41769131-41769131
5 JUP NC_000017.11:g.(?_41771637)_(41771864_?)del Deletion Pathogenic 831627 17:39927889-39928116
6 JUP NM_002230.4(JUP):c.208+1G>A SNV Likely pathogenic 663513 rs373761090 17:39927898-39927898 17:41771646-41771646
7 JUP NM_002230.4(JUP):c.1924+1G>A SNV Likely pathogenic 641014 rs1597781765 17:39913885-39913885 17:41757633-41757633
8 JUP NM_002230.4(JUP):c.902A>G (p.Glu301Gly) SNV Likely pathogenic 222662 rs782058451 17:39923638-39923638 17:41767386-41767386
9 JUP NM_002230.4(JUP):c.608G>A (p.Arg203His) SNV Uncertain significance 645672 rs200221163 17:39925320-39925320 17:41769068-41769068
10 JUP NM_002230.4(JUP):c.1850C>T (p.Ala617Val) SNV Uncertain significance 646605 rs782465804 17:39913960-39913960 17:41757708-41757708
11 JUP NM_002230.4(JUP):c.200C>T (p.Pro67Leu) SNV Uncertain significance 647106 rs1427489722 17:39927907-39927907 17:41771655-41771655
12 JUP NM_002230.4(JUP):c.1318C>T (p.His440Tyr) SNV Uncertain significance 647192 rs1555602228 17:39919414-39919414 17:41763162-41763162
13 JUP NM_002230.4(JUP):c.1430G>A (p.Arg477His) SNV Uncertain significance 647686 rs781788038 17:39919302-39919302 17:41763050-41763050
14 JUP NM_002230.4(JUP):c.1996G>T (p.Val666Leu) SNV Uncertain significance 648451 rs372369061 17:39913717-39913717 17:41757465-41757465
15 JUP NM_002230.4(JUP):c.868G>A (p.Asp290Asn) SNV Uncertain significance 649199 rs982161216 17:39923672-39923672 17:41767420-41767420
16 JUP NM_002230.4(JUP):c.926A>T (p.Asn309Ile) SNV Uncertain significance 649802 rs140606359 17:39921303-39921303 17:41765051-41765051
17 JUP NM_002230.4(JUP):c.1158+2_1158+4dup Duplication Uncertain significance 651441 rs782280458 17:39920960-39920961 17:41764708-41764709
18 JUP NM_002230.4(JUP):c.928G>A (p.Gly310Ser) SNV Uncertain significance 652325 rs1597808505 17:39921301-39921301 17:41765049-41765049
19 JUP NM_002230.4(JUP):c.1039G>A (p.Ala347Thr) SNV Uncertain significance 234601 rs782301706 17:39921190-39921190 17:41764938-41764938
20 JUP NM_002230.4(JUP):c.293G>A (p.Ser98Asn) SNV Uncertain significance 655299 rs1555605891 17:39925845-39925845 17:41769593-41769593
21 JUP NM_002230.4(JUP):c.1804C>T (p.Arg602Cys) SNV Uncertain significance 656122 rs199511559 17:39914006-39914006 17:41757754-41757754
22 JUP NM_002230.4(JUP):c.989C>A (p.Thr330Asn) SNV Uncertain significance 201820 rs782145797 17:39921240-39921240 17:41764988-41764988
23 JUP NM_002230.4(JUP):c.652G>C (p.Gly218Arg) SNV Uncertain significance 643312 rs1597823588 17:39925276-39925276 17:41769024-41769024
24 JUP NM_002230.4(JUP):c.455A>G (p.Asn152Ser) SNV Uncertain significance 644232 rs1555605656 17:39925683-39925683 17:41769431-41769431
25 JUP NM_002230.4(JUP):c.193G>A (p.Val65Met) SNV Uncertain significance 660124 rs727503100 17:39927914-39927914 17:41771662-41771662
26 JUP NM_002230.4(JUP):c.136G>A (p.Asp46Asn) SNV Uncertain significance 660738 rs782308879 17:39927971-39927971 17:41771719-41771719
27 JUP NM_002230.4(JUP):c.1355C>T (p.Thr452Met) SNV Uncertain significance 201824 rs781888888 17:39919377-39919377 17:41763125-41763125
28 JUP NM_002230.4(JUP):c.436G>A (p.Glu146Lys) SNV Uncertain significance 661772 rs146581757 17:39925702-39925702 17:41769450-41769450
29 JUP NM_002230.4(JUP):c.1990G>A (p.Val664Met) SNV Uncertain significance 662884 rs782695128 17:39913723-39913723 17:41757471-41757471
30 JUP NM_002230.4(JUP):c.1096C>G (p.Pro366Ala) SNV Uncertain significance 858872 17:39921027-39921027 17:41764775-41764775
31 JUP NM_002230.4(JUP):c.1582G>A (p.Val528Ile) SNV Uncertain significance 201825 rs368271628 17:39915038-39915038 17:41758786-41758786
32 JUP NM_002230.4(JUP):c.1072G>C (p.Gly358Arg) SNV Uncertain significance 860216 17:39921051-39921051 17:41764799-41764799
33 JUP NM_002230.4(JUP):c.2153T>C (p.Met718Thr) SNV Uncertain significance 860683 17:39912081-39912081 17:41755829-41755829
34 JUP NM_002230.4(JUP):c.2046T>C (p.Ala682=) SNV Uncertain significance 860789 17:39913667-39913667 17:41757415-41757415
35 JUP NM_002230.4(JUP):c.335A>G (p.Asn112Ser) SNV Uncertain significance 191677 rs372364561 17:39925803-39925803 17:41769551-41769551
36 JUP NM_002230.4(JUP):c.1909C>T (p.Arg637Cys) SNV Uncertain significance 179915 rs531732438 17:39913901-39913901 17:41757649-41757649
37 JUP NM_002230.4(JUP):c.262_263delinsAA (p.Ala88Asn) Indel Uncertain significance 863405 17:39925875-39925876 17:41769623-41769624
38 JUP NM_002230.4(JUP):c.356C>T (p.Pro119Leu) SNV Uncertain significance 163726 rs376123010 17:39925782-39925782 17:41769530-41769530
39 JUP NM_002230.4(JUP):c.1398C>A (p.His466Gln) SNV Uncertain significance 864175 17:39919334-39919334 17:41763082-41763082
40 JUP NM_002230.4(JUP):c.2021A>G (p.Lys674Arg) SNV Uncertain significance 864527 17:39913692-39913692 17:41757440-41757440
41 JUP NM_002230.4(JUP):c.1324A>T (p.Ile442Phe) SNV Uncertain significance 191671 rs142213474 17:39919408-39919408 17:41763156-41763156
42 JUP NM_002230.4(JUP):c.152G>A (p.Arg51His) SNV Uncertain significance 834312 17:39927955-39927955 17:41771703-41771703
43 JUP NM_002230.4(JUP):c.467C>T (p.Pro156Leu) SNV Uncertain significance 263731 rs782052422 17:39925671-39925671 17:41769419-41769419
44 JUP NM_002230.4(JUP):c.1_6del (p.Met1_Glu2del) Deletion Uncertain significance 835563 17:39928101-39928106 17:41771849-41771854
45 JUP NM_002230.4(JUP):c.833A>G (p.Asn278Ser) SNV Uncertain significance 836012 17:39923707-39923707 17:41767455-41767455
46 JUP NM_002230.4(JUP):c.1394G>A (p.Arg465His) SNV Uncertain significance 836379 17:39919338-39919338 17:41763086-41763086
47 JUP NM_002230.4(JUP):c.109G>A (p.Val37Ile) SNV Uncertain significance 836987 17:39927998-39927998 17:41771746-41771746
48 JUP NM_002230.4(JUP):c.1805G>A (p.Arg602His) SNV Uncertain significance 837260 17:39914005-39914005 17:41757753-41757753
49 JUP NM_002230.4(JUP):c.874C>G (p.Leu292Val) SNV Uncertain significance 837677 17:39923666-39923666 17:41767414-41767414
50 JUP NM_002230.4(JUP):c.2194G>A (p.Gly732Ser) SNV Uncertain significance 837932 17:39912040-39912040 17:41755788-41755788

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 22)
# 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 cardiac muscle contraction GO:0060048 9.61 RYR2 KCNH2
8 ventricular cardiac muscle cell action potential GO:0086005 9.61 RYR2 PKP2 KCNH2
9 response to progesterone GO:0032570 9.6 TGFB3 DSG2
10 regulation of cytosolic calcium ion concentration GO:0051480 9.59 RYR2 FKBP1B
11 release of sequestered calcium ion into cytosol GO:0051209 9.58 RYR2 FKBP1B
12 regulation of heart rate GO:0002027 9.58 RYR2 FKBP1B
13 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.58 RYR2 PKP2 FKBP1B
14 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.56 RYR2 FKBP1B
15 calcium-mediated signaling using intracellular calcium source GO:0035584 9.54 RYR2 FKBP1B
16 response to redox state GO:0051775 9.52 RYR2 FKBP1B
17 desmosome organization GO:0002934 9.51 PKP2 DSG2
18 desmosome assembly GO:0002159 9.49 PKP2 JUP
19 positive regulation of sequestering of calcium ion GO:0051284 9.48 RYR2 FKBP1B
20 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.46 PKP2 JUP DSG2 DSC2
21 regulation of heart rate by cardiac conduction GO:0086091 9.43 PKP2 KCNH2 JUP DSG2 DSC2 CACNB2
22 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-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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