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ARVD5
MCID: ARR018
MIFTS: 44

Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 (ARVD5)

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, 5

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MalaCards integrated aliases for Arrhythmogenic Right Ventricular Dysplasia, Familial, 5:

Name: Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 57 73 71
Arrhythmogenic Right Ventricular Dysplasia 5 57 12 13 15
Arrhythmogenic Right Ventricular Cardiomyopathy 5 57 12 73
Arvd5 57 12 73
Arvc5 57 12 73
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 5 29 6
Arrhythmogenic Right Ventricular Cardiomyopathy 5; Arvc5 57
Familial Arrhythmogenic Right Ventricular Dysplasia 5 12
Dysplasia, Ventricular, Right, Arrhythmogenic, Type 5 39
Arrhythmogenic Right Ventricular Dysplasia, Type 5 6

Characteristics:

OMIM®:

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

Miscellaneous:
sudden cardiac death frequent in affected families
male patients have more severe disease than female patients


HPO:

31
arrhythmogenic right ventricular dysplasia, familial, 5:
Inheritance autosomal dominant inheritance


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:0110074
OMIM® 57 604400
OMIM Phenotypic Series 57 PS107970
MeSH 44 D019571
ICD10 32 I42.8
MedGen 41 C1858379
UMLS 71 C1858379
Sources

Summaries for Arrhythmogenic Right Ventricular Dysplasia, Familial, 5

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UniProtKB/Swiss-Prot : 73 Arrhythmogenic right ventricular dysplasia, familial, 5: 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, 5, also known as arrhythmogenic right ventricular dysplasia 5, is related to cardiac conduction defect and atrial standstill 1. An important gene associated with Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 is TMEM43 (Transmembrane Protein 43), and among its related pathways/superpathways are Developmental Biology and Keratinization. Affiliated tissues include heart, and related phenotypes are sudden cardiac death and dyskinesia

Disease Ontology : 12 An arrhythmogenic right ventricular dysplasia that has material basis in heterozygous mutation in the TMEM43 gene on chromosome 3p25.

More information from OMIM: 604400 PS107970
Sources

Related Diseases for Arrhythmogenic Right Ventricular Dysplasia, Familial, 5

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

(show top 50) (show all 69)
# Related Disease Score Top Affiliating Genes
1 cardiac conduction defect 29.8 RYR2 DSP
2 atrial standstill 1 28.0 TMEM43 RYR2 PKP2 JUP EMD DSP
3 arrhythmogenic right ventricular cardiomyopathy 27.8 TMEM43 TGFB3 RYR2 PKP2 JUP EMD
4 left ventricular noncompaction 1 10.2 PKP2 JUP
5 grover's disease 10.1 JUP DSP
6 epidermolysis bullosa, lethal acantholytic 10.1 JUP DSP
7 dystonia 3, torsion, x-linked 10.1 DSC3 DSC2
8 diffuse palmoplantar keratoderma 10.1 JUP DSP
9 berylliosis 10.1 PITRM1 C5orf15
10 subcorneal pustular dermatosis 10.1 DSP DSC3
11 lmna-related dilated cardiomyopathy 10.0 DSP DSC2
12 right bundle branch block 10.0 PKP2 DSG2
13 impetigo 10.0 DSG2 DSC3
14 emery-dreifuss muscular dystrophy 7, autosomal dominant 10.0 TMEM43 EMD
15 palmoplantar keratoderma and woolly hair 9.9 JUP DSP DSC2
16 emery-dreifuss muscular dystrophy 5, autosomal dominant 9.9 TMEM43 EMD
17 ectodermal dysplasia/skin fragility syndrome 9.9 JUP DSP DSC2
18 emery-dreifuss muscular dystrophy 3, autosomal recessive 9.9 TMEM43 EMD
19 charcot-marie-tooth disease, axonal, type 2b1 9.9 TMEM43 EMD
20 ventricular fibrillation, paroxysmal familial, 1 9.9 RYR2 DSP
21 myopathy, x-linked, with postural muscle atrophy 9.9 TMEM43 EMD
22 benign chronic pemphigus 9.9 JUP DSP DSC3
23 emery-dreifuss muscular dystrophy 4, autosomal dominant 9.9 TMEM43 EMD
24 familial isolated arrhythmogenic right ventricular dysplasia 9.9 TMEM43 PKP2 DSP DSC2
25 emery-dreifuss muscular dystrophy 1, x-linked 9.8 TMEM43 EMD
26 familial atrial fibrillation 9.8 RYR2 PKP2 DSG2
27 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 9.8 RYR2 PKP2 DSP
28 brugada syndrome 1 9.8 RYR2 DSG2
29 cardiac arrest 9.8 RYR2 DSP DSG2
30 ritter's disease 9.8 DSP DSG2 DSC3 DSC2
31 paraneoplastic pemphigus 9.8 DSP DSG2 DSC3 DSC2
32 bullous skin disease 9.8 DSP DSG2 DSC3 DSC2
33 myopathy, proximal, with ophthalmoplegia 9.7 TGFB3 EMD
34 darier-white disease 9.7 JUP DSP DSC3 DSC2
35 pemphigus vulgaris, familial 9.7 JUP DSP DSG2 DSC3
36 long qt syndrome 1 9.6 RYR2 PKP2 DSP DSG2
37 cardiac arrhythmia 9.6 RYR2 PKP2 JUP DSP
38 emery-dreifuss muscular dystrophy 2, autosomal dominant 9.6 TMEM43 EMD
39 arrhythmogenic right ventricular dysplasia, familial, 13 9.6 TGFB3 RYR2 PKP2 DSP
40 cardiomyopathy, dilated, 1h 9.6 TMEM43 EMD DSP DSC2
41 cardiomyopathy, dilated, 1a 9.6 TMEM43 EMD DSP DSC2
42 pemphigus 9.6 JUP DSP DSG2 DSC3 DSC2
43 palmoplantar keratosis 9.4 PKP2 JUP DSP DSG2 DSC3 DSC2
44 left bundle branch hemiblock 9.4 TMEM43 RYR2 PKP2 DSP DSG2 DSC2
45 intrinsic cardiomyopathy 9.4 TMEM43 RYR2 PKP2 DSP DSG2 DSC2
46 catecholaminergic polymorphic ventricular tachycardia 9.4 TMEM43 RYR2 PKP2 DSP DSG2 DSC2
47 heart conduction disease 9.3 TMEM43 RYR2 PKP2 DSP DSG2 DSC2
48 long qt syndrome 9.3 TMEM43 RYR2 PKP2 DSP DSG2 DSC2
49 arrhythmogenic right ventricular dysplasia, familial, 3 9.2 TGFB3 RYR2 PKP2 DSP DSG2 DSC2
50 arrhythmogenic right ventricular dysplasia, familial, 1 9.2 TGFB3 RYR2 PKP2 DSP DSG2 DSC2

Graphical network of the top 20 diseases related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 5:



Diseases related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
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Symptoms & Phenotypes for Arrhythmogenic Right Ventricular Dysplasia, Familial, 5

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Human phenotypes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 5:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 sudden cardiac death 31 HP:0001645
2 dyskinesia 31 HP:0100660
3 congestive heart failure 31 HP:0001635
4 chest pain 31 HP:0100749
5 ventricular extrasystoles 31 HP:0006682
6 ventricular tachycardia 31 HP:0004756
7 palpitations 31 HP:0001962
8 prolonged qrs complex 31 HP:0006677
9 right ventricular cardiomyopathy 31 HP:0011663
10 presyncope 31 HP:0031972

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Cardiovascular Heart:
palpitations
premature ventricular contractions
bigeminy
left ventricular enlargement
presyncope or syncope
more

Clinical features from OMIM®:

604400 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 5:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.91 DSC2 DSG2 DSP EMD JUP PKP2
2 cellular MP:0005384 9.76 DSC3 DSG2 DSP EMD JUP PITRM1
3 mortality/aging MP:0010768 9.61 DSC3 DSG2 DSP JUP PITRM1 PKP2
4 muscle MP:0005369 9.1 DSG2 DSP EMD JUP PKP2 RYR2
Sources

Drugs & Therapeutics for Arrhythmogenic Right Ventricular Dysplasia, Familial, 5

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Search Clinical Trials , NIH Clinical Center for Arrhythmogenic Right Ventricular Dysplasia, Familial, 5

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Genetic Tests for Arrhythmogenic Right Ventricular Dysplasia, Familial, 5

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Genetic tests related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 5:

# Genetic test Affiliating Genes
1 Arrhythmogenic Right Ventricular Cardiomyopathy, Type 5 29 TMEM43
Sources

Anatomical Context for Arrhythmogenic Right Ventricular Dysplasia, Familial, 5

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MalaCards organs/tissues related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 5:

40
Heart
Sources

Publications for Arrhythmogenic Right Ventricular Dysplasia, Familial, 5

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Articles related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 5:

# Title Authors PMID Year
1
Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene. 6 57 61
18313022 2008
2
TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations. 57 6
23812740 2013
3
Mutation analysis and evaluation of the cardiac localization of TMEM43 in arrhythmogenic right ventricular cardiomyopathy. 57 6
21214875 2011
4
The natural history of a genetic subtype of arrhythmogenic right ventricular cardiomyopathy caused by a p.S358L mutation in TMEM43. 57
22725725 2013
5
Localization of a gene responsible for arrhythmogenic right ventricular dysplasia to chromosome 3p23. 57
9860777 1998
6
TMEM43-S358L mutation enhances NF-κB-TGFβ signal cascade in arrhythmogenic right ventricular dysplasia/cardiomyopathy. 61
29980933 2019
7
Recurrent missense mutations in TMEM43 (ARVD5) due to founder effects cause arrhythmogenic cardiomyopathies in the UK and Canada. 61
23161701 2013
8
Translation of research discoveries to clinical care in arrhythmogenic right ventricular cardiomyopathy in Newfoundland and Labrador: lessons for health policy in genetic disease. 61
20010364 2009
9
The impact of implantable cardioverter-defibrillator therapy on survival in autosomal-dominant arrhythmogenic right ventricular cardiomyopathy (ARVD5). 61
15680719 2005
10
SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia. 61
15466643 2004
Sources

Variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 5

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ClinVar genetic disease variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 5:

6 (show top 50) (show all 195)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TMEM43 NM_024334.3(TMEM43):c.1073C>T (p.Ser358Leu) SNV Pathogenic 734 rs63750743 3:14183165-14183165 3:14141665-14141665
2 TMEM43 NM_024334.2(TMEM43):c.464_466TCA[1] (p.Ile156del) Microsatellite Uncertain significance 662570 rs1574938257 3:14174386-14174388 3:14132886-14132888
3 TMEM43 NM_024334.3(TMEM43):c.361A>G (p.Met121Val) SNV Uncertain significance 46143 rs369878538 3:14173143-14173143 3:14131643-14131643
4 TMEM43 NM_024334.2(TMEM43):c.1141G>A (p.Gly381Ser) SNV Uncertain significance 202114 rs767916602 3:14183233-14183233 3:14141733-14141733
5 TMEM43 NM_024334.2(TMEM43):c.675C>G (p.Phe225Leu) SNV Uncertain significance 570740 rs1559361776 3:14176361-14176361 3:14134861-14134861
6 TMEM43 NM_024334.2(TMEM43):c.545C>T (p.Ala182Val) SNV Uncertain significance 571981 rs1394010451 3:14175271-14175271 3:14133771-14133771
7 TMEM43 NM_024334.2(TMEM43):c.49G>A (p.Val17Ile) SNV Uncertain significance 575697 rs370973153 3:14170948-14170948 3:14129448-14129448
8 TMEM43 NM_024334.2(TMEM43):c.296A>G (p.Lys99Arg) SNV Uncertain significance 191784 rs199943048 3:14172455-14172455 3:14130955-14130955
9 TMEM43 NM_024334.2(TMEM43):c.917_918delinsCT (p.Met306Thr) Indel Uncertain significance 466425 rs1553603453 3:14180714-14180715 3:14139214-14139215
10 TMEM43 NM_024334.2(TMEM43):c.65dup (p.Pro23fs) Duplication Uncertain significance 466422 rs1300909566 3:14170963-14170964 3:14129463-14129464
11 TMEM43 NM_024334.3(TMEM43):c.895dup (p.Arg299fs) Duplication Uncertain significance 855394 3:14180691-14180692 3:14139191-14139192
12 TMEM43 NM_024334.3(TMEM43):c.1147G>A (p.Ala383Thr) SNV Uncertain significance 979098 3:14183239-14183239 3:14141739-14141739
13 TMEM43 NM_024334.2(TMEM43):c.965G>T (p.Gly322Val) SNV Uncertain significance 534758 rs1553603462 3:14180762-14180762 3:14139262-14139262
14 TMEM43 NM_024334.3(TMEM43):c.235A>C (p.Ser79Arg) SNV Uncertain significance 934677 3:14172394-14172394 3:14130894-14130894
15 TMEM43 NM_024334.3(TMEM43):c.289A>T (p.Thr97Ser) SNV Uncertain significance 936141 3:14172448-14172448 3:14130948-14130948
16 TMEM43 NM_024334.3(TMEM43):c.245C>T (p.Pro82Leu) SNV Uncertain significance 936668 3:14172404-14172404 3:14130904-14130904
17 TMEM43 NM_024334.3(TMEM43):c.1156C>T (p.Pro386Ser) SNV Uncertain significance 937703 3:14183248-14183248 3:14141748-14141748
18 TMEM43 NM_024334.3(TMEM43):c.704A>G (p.Glu235Gly) SNV Uncertain significance 938949 3:14176390-14176390 3:14134890-14134890
19 TMEM43 NM_024334.3(TMEM43):c.1058T>C (p.Phe353Ser) SNV Uncertain significance 942943 3:14183150-14183150 3:14141650-14141650
20 TMEM43 NM_024334.3(TMEM43):c.235A>G (p.Ser79Gly) SNV Uncertain significance 944366 3:14172394-14172394 3:14130894-14130894
21 TMEM43 NM_024334.3(TMEM43):c.475A>G (p.Lys159Glu) SNV Uncertain significance 946653 3:14174398-14174398 3:14132898-14132898
22 TMEM43 NM_024334.3(TMEM43):c.886G>A (p.Val296Met) SNV Uncertain significance 948819 3:14180683-14180683 3:14139183-14139183
23 TMEM43 NM_024334.3(TMEM43):c.515C>T (p.Ala172Val) SNV Uncertain significance 953733 3:14175241-14175241 3:14133741-14133741
24 TMEM43 NM_024334.3(TMEM43):c.298-5T>A SNV Uncertain significance 955653 3:14173075-14173075 3:14131575-14131575
25 TMEM43 NM_024334.3(TMEM43):c.605A>T (p.Asn202Ile) SNV Uncertain significance 956646 3:14176291-14176291 3:14134791-14134791
26 TMEM43 NM_024334.3(TMEM43):c.542C>T (p.Thr181Ile) SNV Uncertain significance 956882 3:14175268-14175268 3:14133768-14133768
27 TMEM43 NM_024334.3(TMEM43):c.446C>T (p.Thr149Ile) SNV Uncertain significance 959383 3:14174369-14174369 3:14132869-14132869
28 TMEM43 NM_024334.3(TMEM43):c.241G>A (p.Ala81Thr) SNV Uncertain significance 967172 3:14172400-14172400 3:14130900-14130900
29 TMEM43 NM_024334.2(TMEM43):c.203T>C (p.Leu68Pro) SNV Uncertain significance 534754 rs1553602940 3:14172362-14172362 3:14130862-14130862
30 TMEM43 NM_024334.2(TMEM43):c.1004A>G (p.Asp335Gly) SNV Uncertain significance 534755 rs1553603641 3:14183096-14183096 3:14141596-14141596
31 TMEM43 NM_024334.2(TMEM43):c.971del (p.Asn324fs) Deletion Uncertain significance 534757 rs1553603465 3:14180767-14180767 3:14139267-14139267
32 TMEM43 NM_024334.2(TMEM43):c.136T>C (p.Ser46Pro) SNV Uncertain significance 241467 rs145510310 3:14171035-14171035 3:14129535-14129535
33 TMEM43 NC_000003.11:g.(?_14166440)_(14185180_?)dup Duplication Uncertain significance 417393 3:14166440-14185180 3:14124940-14143680
34 TMEM43 NM_024334.2(TMEM43):c.985A>C (p.Ile329Leu) SNV Uncertain significance 406897 rs1060501358 3:14180782-14180782 3:14139282-14139282
35 TMEM43 NM_024334.2(TMEM43):c.877G>A (p.Ala293Thr) SNV Uncertain significance 406894 rs1060501357 3:14177403-14177403 3:14135903-14135903
36 TMEM43 NM_024334.2(TMEM43):c.499C>G (p.His167Asp) SNV Uncertain significance 466419 rs1553603052 3:14174422-14174422 3:14132922-14132922
37 TMEM43 NM_024334.2(TMEM43):c.329T>C (p.Leu110Pro) SNV Uncertain significance 466416 rs1553602985 3:14173111-14173111 3:14131611-14131611
38 TMEM43 NM_024334.2(TMEM43):c.396G>C (p.Glu132Asp) SNV Uncertain significance 466417 rs1553603024 3:14174049-14174049 3:14132549-14132549
39 TMEM43 NC_000003.12:g.(?_14125184)_(14141805_?)dup Duplication Uncertain significance 832861 3:14166684-14183305
40 TMEM43 NM_024334.3(TMEM43):c.1000+3A>G SNV Uncertain significance 843555 3:14180800-14180800 3:14139300-14139300
41 TMEM43 NM_024334.3(TMEM43):c.1184C>G (p.Pro395Arg) SNV Uncertain significance 850108 3:14183276-14183276 3:14141776-14141776
42 TMEM43 NM_024334.3(TMEM43):c.355G>A (p.Val119Met) SNV Uncertain significance 851039 3:14173137-14173137 3:14131637-14131637
43 TMEM43 NM_024334.3(TMEM43):c.179C>T (p.Thr60Met) SNV Uncertain significance 852428 3:14172338-14172338 3:14130838-14130838
44 TMEM43 NM_024334.3(TMEM43):c.781-10C>G SNV Uncertain significance 855624 3:14177297-14177297 3:14135797-14135797
45 TMEM43 NM_024334.3(TMEM43):c.136T>A (p.Ser46Thr) SNV Uncertain significance 857157 3:14171035-14171035 3:14129535-14129535
46 TMEM43 NM_024334.3(TMEM43):c.606del (p.Phe203fs) Deletion Uncertain significance 857932 3:14176292-14176292 3:14134792-14134792
47 TMEM43 NM_024334.3(TMEM43):c.406G>A (p.Asp136Asn) SNV Uncertain significance 862086 3:14174059-14174059 3:14132559-14132559
48 TMEM43 NM_024334.3(TMEM43):c.90C>T (p.Ser30=) SNV Uncertain significance 863138 3:14170989-14170989 3:14129489-14129489
49 TMEM43 NM_024334.2(TMEM43):c.218C>G (p.Ser73Cys) SNV Uncertain significance 642477 rs200652985 3:14172377-14172377 3:14130877-14130877
50 TMEM43 NM_024334.2(TMEM43):c.997T>G (p.Leu333Val) SNV Uncertain significance 644612 rs1487754536 3:14180794-14180794 3:14139294-14139294

UniProtKB/Swiss-Prot genetic disease variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 5:

73
# Symbol AA change Variation ID SNP ID
1 TMEM43 p.Ser358Leu VAR_044438 rs63750743

Sources

Expression for Arrhythmogenic Right Ventricular Dysplasia, Familial, 5

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Search GEO for disease gene expression data for Arrhythmogenic Right Ventricular Dysplasia, Familial, 5.
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Pathways for Arrhythmogenic Right Ventricular Dysplasia, Familial, 5

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Pathways related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 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
Dilated cardiomyopathy 36
Show member pathways
 11.77 TGFB3 RYR2 EMD
4
Arrhythmogenic right ventricular cardiomyopathy 36 1
11.35 RYR2 PKP2 JUP EMD DSP DSG2
5
Antiarrhythmic Pathway, Pharmacodynamics 60
11.08 RYR2 JUP DSP
6
Cell adhesion_Endothelial cell contacts by junctional mechanisms 23
10.87 JUP DSP
Sources

GO Terms for Arrhythmogenic Right Ventricular Dysplasia, Familial, 5

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Cellular components related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.8 PKP2 JUP DSP DSG2 DSC3 DSC2
2 cell-cell junction GO:0005911 9.73 PKP2 JUP DSP DSG2 DSC3 DSC2
3 intermediate filament GO:0005882 9.61 PKP2 JUP DSP
4 adherens junction GO:0005912 9.58 PKP2 JUP DSC2
5 intercalated disc GO:0014704 9.55 PKP2 JUP DSP DSG2 DSC2
6 cornified envelope GO:0001533 9.43 PKP2 JUP DSP DSG2 DSC3 DSC2
7 fascia adherens GO:0005916 9.37 JUP DSP
8 desmosome GO:0030057 9.1 PKP2 JUP DSP DSG2 DSC3 DSC2

Biological processes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.88 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 9.7 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 9.56 JUP DSP
9 adherens junction organization GO:0034332 9.55 JUP DSP
10 response to progesterone GO:0032570 9.54 TGFB3 DSG2
11 ventricular cardiac muscle cell action potential GO:0086005 9.51 RYR2 PKP2
12 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.49 RYR2 PKP2
13 nuclear membrane organization GO:0071763 9.46 TMEM43 EMD
14 desmosome assembly GO:0002159 9.43 PKP2 JUP
15 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.35 PKP2 JUP DSP DSG2 DSC2
16 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, 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 alpha-catenin binding GO:0045294 9.16 PKP2 JUP
2 cell adhesion molecule binding GO:0050839 9.13 JUP DSP DSG2
3 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, 5

About this section
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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