ARVD5
MCID: ARR018
MIFTS: 45

Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 (ARVD5)

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

Aliases & Classifications for Arrhythmogenic Right Ventricular Dysplasia, Familial, 5

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

Name: Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 56 73 71
Arrhythmogenic Right Ventricular Dysplasia 5 56 12 13 15
Arrhythmogenic Right Ventricular Cardiomyopathy 5 56 12 73
Arvd5 56 12 73
Arvc5 56 12 73
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 5 29 6
Arrhythmogenic Right Ventricular Cardiomyopathy 5; Arvc5 56
Familial Arrhythmogenic Right Ventricular Dysplasia 5 12
Dysplasia, Ventricular, Right, Arrhythmogenic, Type 5 39

Characteristics:

OMIM:

56
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:



External Ids:

Disease Ontology 12 DOID:0110074
OMIM 56 604400
OMIM Phenotypic Series 56 PS107970
MeSH 43 D019571
ICD10 32 I42.8
MedGen 41 C1858379
UMLS 71 C1858379

Summaries for Arrhythmogenic Right Ventricular Dysplasia, Familial, 5

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 testes, and related phenotypes are dyskinesia and congestive heart failure

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

Related Diseases for Arrhythmogenic Right Ventricular Dysplasia, Familial, 5

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

(show top 50) (show all 65)
# Related Disease Score Top Affiliating Genes
1 cardiac conduction defect 30.4 RYR2 DSP
2 atrial standstill 1 28.0 RYR2 PKP2 JUP EMD DSP DSG2
3 arrhythmogenic right ventricular cardiomyopathy 27.4 TMEM43 TGFB3 RYR2 PKP2 JUP EMD
4 grover's disease 10.2 JUP DSP
5 epidermolysis bullosa, lethal acantholytic 10.2 JUP DSP
6 diffuse palmoplantar keratoderma 10.2 JUP DSP
7 berylliosis 10.1 PITRM1 C5orf15
8 subcorneal pustular dermatosis 10.1 DSP DSC3
9 dystonia 3, torsion, x-linked 10.1 DSC3 DSC2
10 cardiac sarcoidosis 10.0 PKP2 DSP
11 ritter's disease 10.0 DSG2 DSC3 DSC2
12 palmoplantar keratoderma and woolly hair 10.0 JUP DSP DSC2
13 ectodermal dysplasia/skin fragility syndrome 10.0 JUP DSP DSC2
14 ectodermal dysplasia 10.0 JUP DSP DSC2
15 impetigo 10.0 DSG2 DSC3
16 cardiomyopathy, dilated, 1h 9.9 TMEM43 EMD
17 emery-dreifuss muscular dystrophy 5, autosomal dominant 9.9 TMEM43 EMD
18 emery-dreifuss muscular dystrophy 3, autosomal recessive 9.9 TMEM43 EMD
19 emery-dreifuss muscular dystrophy 4, autosomal dominant 9.9 TMEM43 EMD
20 ventricular fibrillation, paroxysmal familial, 1 9.9 RYR2 DSP
21 charcot-marie-tooth disease, axonal, type 2b1 9.9 TMEM43 EMD
22 emery-dreifuss muscular dystrophy 1, x-linked 9.8 TMEM43 EMD
23 myopathy, x-linked, with postural muscle atrophy 9.8 TMEM43 EMD
24 right bundle branch block 9.8 PKP2 DSG2
25 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 9.8 RYR2 PKP2 DSP
26 cardiomyopathy, dilated, 1a 9.8 TMEM43 EMD
27 long qt syndrome 1 9.7 RYR2 PKP2 DSP
28 paraneoplastic pemphigus 9.7 DSP DSG2 DSC3 DSC2
29 cardiac arrhythmia 9.7 RYR2 PKP2
30 bullous skin disease 9.7 DSP DSG2 DSC3 DSC2
31 benign chronic pemphigus 9.7 JUP DSP DSC3 DSC2
32 darier-white disease 9.7 JUP DSP DSC3 DSC2
33 familial atrial fibrillation 9.7 RYR2 PKP2 DSG2
34 pemphigus vulgaris, familial 9.7 JUP DSP DSG2 DSC3
35 arrhythmogenic right ventricular dysplasia, familial, 1 9.5 TGFB3 RYR2 PKP2 DSG2
36 rare cardiomyopathy 9.5 RYR2 PKP2 DSP DSG2
37 pemphigus 9.5 JUP DSP DSG2 DSC3 DSC2
38 cardiac arrest 9.3 TMEM43 RYR2 DSP DSG2 DSC2
39 left bundle branch hemiblock 9.2 TMEM43 RYR2 PKP2 DSP DSG2 DSC2
40 long qt syndrome 9.1 TMEM43 RYR2 PKP2 DSP DSG2 DSC2
41 palmoplantar keratosis 9.1 TMEM43 PKP2 JUP DSP DSG2 DSC3
42 arrhythmogenic right ventricular dysplasia, familial, 13 9.1 TGFB3 RYR2 PKP2 ERN1 DSP
43 arrhythmogenic right ventricular dysplasia, familial, 3 9.0 TGFB3 RYR2 PKP2 DSP DSG2 DSC2
44 arrhythmogenic right ventricular dysplasia, familial, 11 9.0 TMEM43 RYR2 PKP2 JUP DSG2 DSC3
45 intrinsic cardiomyopathy 8.9 TMEM43 RYR2 PKP2 JUP DSP DSG2
46 catecholaminergic polymorphic ventricular tachycardia 8.9 TMEM43 RYR2 PKP2 JUP DSP DSG2
47 arrhythmogenic right ventricular dysplasia, familial, 10 8.8 RYR2 PKP2 JUP DSP DSG2 DSC3
48 arrhythmogenic right ventricular dysplasia, familial, 4 8.8 TMEM43 TGFB3 RYR2 PKP2 DSP DSG2
49 arrhythmogenic right ventricular dysplasia, familial, 12 8.6 TMEM43 TGFB3 RYR2 PKP2 JUP DSG2
50 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 8.5 TMEM43 TGFB3 RYR2 PKP2 JUP DSP

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



Diseases related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 5

Symptoms & Phenotypes for Arrhythmogenic Right Ventricular Dysplasia, Familial, 5

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

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 dyskinesia 31 HP:0100660
2 congestive heart failure 31 HP:0001635
3 chest pain 31 HP:0100749
4 sudden cardiac death 31 HP:0001645
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:

56
Cardiovascular Heart:
palpitations
premature ventricular contractions
bigeminy
left ventricular enlargement
presyncope or syncope
more

Clinical features from OMIM:

604400

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.02 DSC2 DSG2 DSP EMD ERN1 JUP
2 cellular MP:0005384 9.91 DSC3 DSG2 DSP EMD ERN1 JUP
3 embryo MP:0005380 9.7 DSP ERN1 JUP PITRM1 RYR2 TGFB3
4 mortality/aging MP:0010768 9.65 DSC3 DSG2 DSP ERN1 JUP PITRM1
5 muscle MP:0005369 9.1 DSG2 DSP EMD JUP PKP2 RYR2

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

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

Genetic Tests for Arrhythmogenic Right Ventricular Dysplasia, Familial, 5

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

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

Anatomical Context for Arrhythmogenic Right Ventricular Dysplasia, Familial, 5

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

40
Heart, Testes

Publications for Arrhythmogenic Right Ventricular Dysplasia, Familial, 5

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

(show all 15)
# 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. 61 6 56
18313022 2008
2
TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations. 6 56
23812740 2013
3
Mutation analysis and evaluation of the cardiac localization of TMEM43 in arrhythmogenic right ventricular cardiomyopathy. 56 6
21214875 2011
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
The natural history of a genetic subtype of arrhythmogenic right ventricular cardiomyopathy caused by a p.S358L mutation in TMEM43. 56
22725725 2013
8
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
9
Arrhythmogenic Right Ventricular Cardiomyopathy 6
20301310 2005
10
Localization of a gene responsible for arrhythmogenic right ventricular dysplasia to chromosome 3p23. 56
9860777 1998
11
TMEM43-S358L mutation enhances NF-κB-TGFβ signal cascade in arrhythmogenic right ventricular dysplasia/cardiomyopathy. 61
29980933 2019
12
Recurrent missense mutations in TMEM43 (ARVD5) due to founder effects cause arrhythmogenic cardiomyopathies in the UK and Canada. 61
23161701 2013
13
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
14
The impact of implantable cardioverter-defibrillator therapy on survival in autosomal-dominant arrhythmogenic right ventricular cardiomyopathy (ARVD5). 61
15680719 2005
15
SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia. 61
15466643 2004

Variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 5

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

6 (show top 50) (show all 163) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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.893A>G (p.His298Arg)SNV Conflicting interpretations of pathogenicity 629528 rs1285837389 3:14180690-14180690 3:14139190-14139190
3 TMEM43 NM_024334.3(TMEM43):c.271A>G (p.Ile91Val)SNV Conflicting interpretations of pathogenicity 40871 rs144811578 3:14172430-14172430 3:14130930-14130930
4 TMEM43 NM_024334.3(TMEM43):c.1105C>T (p.Leu369Phe)SNV Conflicting interpretations of pathogenicity 46139 rs144152046 3:14183197-14183197 3:14141697-14141697
5 TMEM43 NM_024334.3(TMEM43):c.1111T>C (p.Tyr371His)SNV Conflicting interpretations of pathogenicity 46140 rs116911972 3:14183203-14183203 3:14141703-14141703
6 TMEM43 NM_024334.3(TMEM43):c.222C>T (p.Pro74=)SNV Conflicting interpretations of pathogenicity 46141 rs34099410 3:14172381-14172381 3:14130881-14130881
7 TMEM43 NM_024334.3(TMEM43):c.424G>A (p.Glu142Lys)SNV Conflicting interpretations of pathogenicity 46147 rs145619906 3:14174077-14174077 3:14132577-14132577
8 TMEM43 NM_024334.3(TMEM43):c.953C>T (p.Ala318Val)SNV Conflicting interpretations of pathogenicity 46156 rs11924644 3:14180750-14180750 3:14139250-14139250
9 TMEM43 NM_024334.2(TMEM43):c.169G>A (p.Ala57Thr)SNV Conflicting interpretations of pathogenicity 88981 rs151010429 3:14172328-14172328 3:14130828-14130828
10 TMEM43 NM_024334.3(TMEM43):c.484G>A (p.Asp162Asn)SNV Conflicting interpretations of pathogenicity 178140 rs150425166 3:14174407-14174407 3:14132907-14132907
11 TMEM43 NM_024334.2(TMEM43):c.164G>A (p.Gly55Asp)SNV Conflicting interpretations of pathogenicity 191781 rs201453637 3:14172323-14172323 3:14130823-14130823
12 TMEM43 NM_024334.2(TMEM43):c.98C>T (p.Ser33Leu)SNV Conflicting interpretations of pathogenicity 202115 rs539753097 3:14170997-14170997 3:14129497-14129497
13 TMEM43 NM_024334.2(TMEM43):c.601G>A (p.Asp201Asn)SNV Conflicting interpretations of pathogenicity 202116 rs138182276 3:14176287-14176287 3:14134787-14134787
14 TMEM43 NM_024334.2(TMEM43):c.1141G>A (p.Gly381Ser)SNV Conflicting interpretations of pathogenicity 202114 rs767916602 3:14183233-14183233 3:14141733-14141733
15 TMEM43 NM_024334.2(TMEM43):c.286C>G (p.Arg96Gly)SNV Conflicting interpretations of pathogenicity 202127 rs754797146 3:14172445-14172445 3:14130945-14130945
16 TMEM43 NM_024334.2(TMEM43):c.1061G>C (p.Cys354Ser)SNV Conflicting interpretations of pathogenicity 235059 rs187262922 3:14183153-14183153 3:14141653-14141653
17 TMEM43 NM_024334.2(TMEM43):c.692C>T (p.Pro231Leu)SNV Conflicting interpretations of pathogenicity 241469 rs533275736 3:14176378-14176378 3:14134878-14134878
18 TMEM43 NM_024334.2(TMEM43):c.279C>T (p.Gly93=)SNV Conflicting interpretations of pathogenicity 343504 rs149883381 3:14172438-14172438 3:14130938-14130938
19 TMEM43 NM_024334.2(TMEM43):c.333G>A (p.Pro111=)SNV Conflicting interpretations of pathogenicity 343505 rs774276092 3:14173115-14173115 3:14131615-14131615
20 TMEM43 NM_024334.2(TMEM43):c.1120_1121del (p.Leu374fs)deletion Conflicting interpretations of pathogenicity 343509 rs746672224 3:14183212-14183213 3:14141712-14141713
21 TMEM43 NM_024334.2(TMEM43):c.246G>A (p.Pro82=)SNV Conflicting interpretations of pathogenicity 343502 rs376098518 3:14172405-14172405 3:14130905-14130905
22 TMEM43 NM_024334.2(TMEM43):c.777C>T (p.His259=)SNV Conflicting interpretations of pathogenicity 343507 rs143958148 3:14176729-14176729 3:14135229-14135229
23 TMEM43 NM_024334.2(TMEM43):c.347G>A (p.Arg116Gln)SNV Conflicting interpretations of pathogenicity 264584 rs143535006 3:14173129-14173129 3:14131629-14131629
24 TMEM43 NM_024334.2(TMEM43):c.750C>T (p.Gly250=)SNV Conflicting interpretations of pathogenicity 406896 rs374222050 3:14176702-14176702 3:14135202-14135202
25 TMEM43 NM_024334.2(TMEM43):c.748G>A (p.Gly250Ser)SNV Conflicting interpretations of pathogenicity 466423 rs371797765 3:14176700-14176700 3:14135200-14135200
26 TMEM43 NM_024334.2(TMEM43):c.802C>T (p.Arg268Trp)SNV Conflicting interpretations of pathogenicity 448690 rs201138253 3:14177328-14177328 3:14135828-14135828
27 TMEM43 NM_024334.3(TMEM43):c.393G>A (p.Arg131=)SNV Conflicting interpretations of pathogenicity 862007 3:14174046-14174046 3:14132546-14132546
28 TMEM43 NM_024334.3(TMEM43):c.406G>A (p.Asp136Asn)SNV Uncertain significance 862086 3:14174059-14174059 3:14132559-14132559
29 TMEM43 NM_024334.3(TMEM43):c.530C>T (p.Ser177Leu)SNV Uncertain significance 856596 3:14175256-14175256 3:14133756-14133756
30 TMEM43 NM_024334.3(TMEM43):c.606del (p.Phe203fs)deletion Uncertain significance 857932 3:14176292-14176292 3:14134792-14134792
31 TMEM43 NM_024334.3(TMEM43):c.645T>G (p.His215Gln)SNV Uncertain significance 850544 3:14176331-14176331 3:14134831-14134831
32 TMEM43 NM_024334.3(TMEM43):c.852_853delinsAA (p.Leu285Ile)indel Uncertain significance 839340 3:14177378-14177379 3:14135878-14135879
33 TMEM43 NM_024334.3(TMEM43):c.895dup (p.Arg299fs)duplication Uncertain significance 855394 3:14180691-14180692 3:14139191-14139192
34 TMEM43 NM_024334.3(TMEM43):c.1085T>G (p.Leu362Arg)SNV Uncertain significance 840521 3:14183177-14183177 3:14141677-14141677
35 TMEM43 NM_024334.3(TMEM43):c.1184C>G (p.Pro395Arg)SNV Uncertain significance 850108 3:14183276-14183276 3:14141776-14141776
36 TMEM43 NM_024334.3(TMEM43):c.781-10C>GSNV Uncertain significance 855624 3:14177297-14177297 3:14135797-14135797
37 TMEM43 NM_024334.3(TMEM43):c.1000+3A>GSNV Uncertain significance 843555 3:14180800-14180800 3:14139300-14139300
38 TMEM43 NC_000003.12:g.(?_14125184)_(14141805_?)dupduplication Uncertain significance 832861 3:14166684-14183305
39 TMEM43 NM_024334.3(TMEM43):c.90C>T (p.Ser30=)SNV Uncertain significance 863138 3:14170989-14170989 3:14129489-14129489
40 TMEM43 NM_024334.3(TMEM43):c.136T>A (p.Ser46Thr)SNV Uncertain significance 857157 3:14171035-14171035 3:14129535-14129535
41 TMEM43 NM_024334.3(TMEM43):c.167G>A (p.Arg56His)SNV Uncertain significance 860416 3:14172326-14172326 3:14130826-14130826
42 TMEM43 NM_024334.3(TMEM43):c.179C>T (p.Thr60Met)SNV Uncertain significance 852428 3:14172338-14172338 3:14130838-14130838
43 TMEM43 NM_024334.3(TMEM43):c.213G>A (p.Val71=)SNV Uncertain significance 845706 3:14172372-14172372 3:14130872-14130872
44 TMEM43 NM_024334.3(TMEM43):c.287G>A (p.Arg96Gln)SNV Uncertain significance 845707 3:14172446-14172446 3:14130946-14130946
45 TMEM43 NM_024334.3(TMEM43):c.355G>A (p.Val119Met)SNV Uncertain significance 851039 3:14173137-14173137 3:14131637-14131637
46 TMEM43 NM_024334.3(TMEM43):c.362T>G (p.Met121Arg)SNV Uncertain significance 846401 3:14173144-14173144 3:14131644-14131644
47 TMEM43 NM_024334.2(TMEM43):c.21T>G (p.Ser7Arg)SNV Uncertain significance 661757 3:14170920-14170920 3:14129420-14129420
48 TMEM43 NM_024334.2(TMEM43):c.218C>G (p.Ser73Cys)SNV Uncertain significance 642477 3:14172377-14172377 3:14130877-14130877
49 TMEM43 NM_024334.2(TMEM43):c.464_466TCA[1] (p.Ile156del)short repeat Uncertain significance 662570 3:14174386-14174388 3:14132886-14132888
50 TMEM43 NM_024334.2(TMEM43):c.487C>T (p.Arg163Ter)SNV Uncertain significance 643003 3:14174410-14174410 3:14132910-14132910

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

Expression for Arrhythmogenic Right Ventricular Dysplasia, Familial, 5

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

Pathways for Arrhythmogenic Right Ventricular Dysplasia, Familial, 5

Pathways related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 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
11.77 TGFB3 RYR2 EMD
4
Show member pathways
11.35 RYR2 PKP2 JUP EMD DSP DSG2
5 11.08 RYR2 JUP DSP
6 10.87 JUP DSP

GO Terms for Arrhythmogenic Right Ventricular Dysplasia, Familial, 5

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 9.63 PKP2 JUP DSP
4 adherens junction GO:0005912 9.61 PKP2 JUP DSC2
5 intercalated disc GO:0014704 9.55 PKP2 JUP DSP DSG2 DSC2
6 nuclear inner membrane GO:0005637 9.54 TMEM43 ERN1 EMD
7 cornified envelope GO:0001533 9.43 PKP2 JUP DSP DSG2 DSC3 DSC2
8 fascia adherens GO:0005916 9.4 JUP DSP
9 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 14)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.85 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 cornification GO:0070268 9.73 PKP2 JUP DSP DSG2 DSC3 DSC2
5 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.69 DSG2 DSC3 DSC2
6 desmosome organization GO:0002934 9.58 PKP2 DSP DSG2
7 regulation of heart rate by cardiac conduction GO:0086091 9.55 PKP2 JUP DSP DSG2 DSC2
8 skin development GO:0043588 9.54 JUP DSP
9 response to progesterone GO:0032570 9.52 TGFB3 DSG2
10 ventricular cardiac muscle cell action potential GO:0086005 9.49 RYR2 PKP2
11 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.48 RYR2 PKP2
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, 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 for Arrhythmogenic Right Ventricular Dysplasia, Familial, 5

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
Content
Loading form....