ARVD5
MCID: ARR018
MIFTS: 42

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 58 76 74
Arrhythmogenic Right Ventricular Dysplasia 5 58 12 13 15
Arrhythmogenic Right Ventricular Cardiomyopathy 5 58 12 76
Arvd5 58 12 76
Arvc5 58 12 76
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 5 30 6
Arrhythmogenic Right Ventricular Cardiomyopathy 5; Arvc5 58
Familial Arrhythmogenic Right Ventricular Dysplasia 5 12
Dysplasia, Ventricular, Right, Arrhythmogenic, Type 5 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
arrhythmogenic right ventricular dysplasia, familial, 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110074
OMIM 58 604400
MeSH 45 D019571
ICD10 34 I42.8
MedGen 43 C1858379
UMLS 74 C1858379

Summaries for Arrhythmogenic Right Ventricular Dysplasia, Familial, 5

UniProtKB/Swiss-Prot : 76 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 arrhythmogenic right ventricular cardiomyopathy and heart septal defect. 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 Human Embryonic Stem Cell Pluripotency. 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.

Description from OMIM: 604400

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 all 13)
# Related Disease Score Top Affiliating Genes
1 arrhythmogenic right ventricular cardiomyopathy 28.7 CDH2 CTNNB1 PPARG SCN5A TMEM43
2 heart septal defect 10.0 MEF2C NKX2-5
3 familial progressive cardiac conduction defect 10.0 NKX2-5 SCN5A
4 ventricular fibrillation, paroxysmal familial, 1 10.0 NKX2-5 SCN5A
5 intrinsic cardiomyopathy 10.0 SCN5A TMEM43
6 atrioventricular block 9.9 NKX2-5 SCN5A
7 double outlet right ventricle 9.9 MEF2C NKX2-5
8 hypoplastic left heart syndrome 9.8 CDH2 NKX2-5
9 left ventricular noncompaction 9.8 NKX2-5 SCN5A XIRP1
10 tongue cancer 9.6 CDH2 CTNNB1
11 dilated cardiomyopathy 9.5 CDH2 NKX2-5 SCN5A TMEM43
12 large intestine cancer 9.4 CDH2 CTNNB1 PPARG
13 cardiomyopathy, dilated, 1e 8.9 CDH2 CTNNB1 MEF2C NKX2-5 SCN5A XIRP1

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:

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 sudden cardiac death 33 HP:0001645
2 dyskinesia 33 HP:0100660
3 congestive heart failure 33 HP:0001635
4 chest pain 33 HP:0100749
5 ventricular tachycardia 33 HP:0004756
6 ventricular extrasystoles 33 HP:0006682
7 palpitations 33 HP:0001962
8 right ventricular cardiomyopathy 33 HP:0011663
9 prolonged qrs complex 33 HP:0006677
10 presyncope 33 HP:0031972

Symptoms via clinical synopsis from OMIM:

58
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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.91 CDH2 CTNNB1 MEF2C NKX2-5 PPARG SCN5A
2 embryo MP:0005380 9.8 CDH2 CTNNB1 MEF2C NKX2-5 PPARG SCN5A
3 growth/size/body region MP:0005378 9.8 CDH2 CTNNB1 MEF2C NKX2-5 PPARG SCN5A
4 muscle MP:0005369 9.7 CDH2 CTNNB1 MEF2C NKX2-5 PPARG SCN5A
5 nervous system MP:0003631 9.43 CDH2 CTNNB1 MEF2C NKX2-5 PPARG SCN5A
6 normal MP:0002873 9.02 CTNNB1 MEF2C NKX2-5 PPARG SCN5A

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 30 TMEM43

Anatomical Context for Arrhythmogenic Right Ventricular Dysplasia, Familial, 5

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

42
Heart

Publications for Arrhythmogenic Right Ventricular Dysplasia, Familial, 5

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

# Title Authors Year
1
Failure of ICD therapy in lethal arrhythmogenic right ventricular cardiomyopathy type 5 caused by the TMEM43 p.Ser358Leu mutation. ( 28491673 )
2016
2
Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene. ( 18313022 )
2008

Variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 5

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

76
# Symbol AA change Variation ID SNP ID
1 TMEM43 p.Ser358Leu VAR_044438 rs63750743

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

6 (show top 50) (show all 198)
# Gene Variation Type Significance SNP ID Assembly Location
1 TMEM43 NM_024334.2(TMEM43): c.45C> A (p.Val15=) single nucleotide variant Benign/Likely benign rs150334659 GRCh37 Chromosome 3, 14170944: 14170944
2 TMEM43 NM_024334.2(TMEM43): c.45C> A (p.Val15=) single nucleotide variant Benign/Likely benign rs150334659 GRCh38 Chromosome 3, 14129444: 14129444
3 TMEM43 NM_024334.2(TMEM43): c.163-3delC deletion Conflicting interpretations of pathogenicity rs371706980 GRCh38 Chromosome 3, 14130819: 14130819
4 TMEM43 NM_024334.2(TMEM43): c.163-3delC deletion Conflicting interpretations of pathogenicity rs371706980 GRCh37 Chromosome 3, 14172319: 14172319
5 TMEM43 NM_024334.2(TMEM43): c.442+7G> A single nucleotide variant Likely benign rs373590238 GRCh37 Chromosome 3, 14174102: 14174102
6 TMEM43 NM_024334.2(TMEM43): c.442+7G> A single nucleotide variant Likely benign rs373590238 GRCh38 Chromosome 3, 14132602: 14132602
7 TMEM43 NM_024334.2(TMEM43): c.698A> G (p.Tyr233Cys) single nucleotide variant Benign/Likely benign rs35924492 GRCh37 Chromosome 3, 14176384: 14176384
8 TMEM43 NM_024334.2(TMEM43): c.698A> G (p.Tyr233Cys) single nucleotide variant Benign/Likely benign rs35924492 GRCh38 Chromosome 3, 14134884: 14134884
9 TMEM43 NM_024334.2(TMEM43): c.1095G> A (p.Ala365=) single nucleotide variant Likely benign rs141675061 GRCh37 Chromosome 3, 14183187: 14183187
10 TMEM43 NM_024334.2(TMEM43): c.1095G> A (p.Ala365=) single nucleotide variant Likely benign rs141675061 GRCh38 Chromosome 3, 14141687: 14141687
11 TMEM43 NM_024334.2(TMEM43): c.280G> A (p.Ala94Thr) single nucleotide variant Uncertain significance rs369142200 GRCh37 Chromosome 3, 14172439: 14172439
12 TMEM43 NM_024334.2(TMEM43): c.280G> A (p.Ala94Thr) single nucleotide variant Uncertain significance rs369142200 GRCh38 Chromosome 3, 14130939: 14130939
13 TMEM43 NM_024334.2(TMEM43): c.428C> T (p.Thr143Met) single nucleotide variant Uncertain significance rs544554435 GRCh38 Chromosome 3, 14132581: 14132581
14 TMEM43 NM_024334.2(TMEM43): c.428C> T (p.Thr143Met) single nucleotide variant Uncertain significance rs544554435 GRCh37 Chromosome 3, 14174081: 14174081
15 TMEM43 NM_024334.2(TMEM43): c.484G> A (p.Asp162Asn) single nucleotide variant Uncertain significance rs150425166 GRCh37 Chromosome 3, 14174407: 14174407
16 TMEM43 NM_024334.2(TMEM43): c.484G> A (p.Asp162Asn) single nucleotide variant Uncertain significance rs150425166 GRCh38 Chromosome 3, 14132907: 14132907
17 TMEM43 NM_024334.2(TMEM43): c.644A> C (p.His215Pro) single nucleotide variant Uncertain significance rs730880225 GRCh37 Chromosome 3, 14176330: 14176330
18 TMEM43 NM_024334.2(TMEM43): c.644A> C (p.His215Pro) single nucleotide variant Uncertain significance rs730880225 GRCh38 Chromosome 3, 14134830: 14134830
19 TMEM43 NM_024334.2(TMEM43): c.796C> T (p.Arg266Trp) single nucleotide variant Uncertain significance rs139842014 GRCh37 Chromosome 3, 14177322: 14177322
20 TMEM43 NM_024334.2(TMEM43): c.796C> T (p.Arg266Trp) single nucleotide variant Uncertain significance rs139842014 GRCh38 Chromosome 3, 14135822: 14135822
21 TMEM43 NM_024334.2(TMEM43): c.865G> A (p.Gly289Arg) single nucleotide variant Uncertain significance rs730880226 GRCh37 Chromosome 3, 14177391: 14177391
22 TMEM43 NM_024334.2(TMEM43): c.865G> A (p.Gly289Arg) single nucleotide variant Uncertain significance rs730880226 GRCh38 Chromosome 3, 14135891: 14135891
23 TMEM43 NM_024334.2(TMEM43): c.164G> A (p.Gly55Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs201453637 GRCh38 Chromosome 3, 14130823: 14130823
24 TMEM43 NM_024334.2(TMEM43): c.164G> A (p.Gly55Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs201453637 GRCh37 Chromosome 3, 14172323: 14172323
25 TMEM43 NM_024334.2(TMEM43): c.296A> G (p.Lys99Arg) single nucleotide variant Uncertain significance rs199943048 GRCh37 Chromosome 3, 14172455: 14172455
26 TMEM43 NM_024334.2(TMEM43): c.296A> G (p.Lys99Arg) single nucleotide variant Uncertain significance rs199943048 GRCh38 Chromosome 3, 14130955: 14130955
27 TMEM43 NM_024334.2(TMEM43): c.98C> T (p.Ser33Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs539753097 GRCh37 Chromosome 3, 14170997: 14170997
28 TMEM43 NM_024334.2(TMEM43): c.98C> T (p.Ser33Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs539753097 GRCh38 Chromosome 3, 14129497: 14129497
29 TMEM43 NM_024334.2(TMEM43): c.214G> A (p.Val72Met) single nucleotide variant Uncertain significance rs368603914 GRCh38 Chromosome 3, 14130873: 14130873
30 TMEM43 NM_024334.2(TMEM43): c.214G> A (p.Val72Met) single nucleotide variant Uncertain significance rs368603914 GRCh37 Chromosome 3, 14172373: 14172373
31 TMEM43 NM_024334.2(TMEM43): c.286C> G (p.Arg96Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs754797146 GRCh38 Chromosome 3, 14130945: 14130945
32 TMEM43 NM_024334.2(TMEM43): c.286C> G (p.Arg96Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs754797146 GRCh37 Chromosome 3, 14172445: 14172445
33 TMEM43 NM_024334.2(TMEM43): c.659G> A (p.Arg220His) single nucleotide variant Uncertain significance rs570836197 GRCh37 Chromosome 3, 14176345: 14176345
34 TMEM43 NM_024334.2(TMEM43): c.659G> A (p.Arg220His) single nucleotide variant Uncertain significance rs570836197 GRCh38 Chromosome 3, 14134845: 14134845
35 TMEM43 NM_024334.2(TMEM43): c.718C> T (p.Arg240Cys) single nucleotide variant Uncertain significance rs367910936 GRCh37 Chromosome 3, 14176670: 14176670
36 TMEM43 NM_024334.2(TMEM43): c.718C> T (p.Arg240Cys) single nucleotide variant Uncertain significance rs367910936 GRCh38 Chromosome 3, 14135170: 14135170
37 TMEM43 NM_024334.2(TMEM43): c.859C> T (p.His287Tyr) single nucleotide variant Uncertain significance rs780299346 GRCh37 Chromosome 3, 14177385: 14177385
38 TMEM43 NM_024334.2(TMEM43): c.859C> T (p.His287Tyr) single nucleotide variant Uncertain significance rs780299346 GRCh38 Chromosome 3, 14135885: 14135885
39 TMEM43 NM_024334.2(TMEM43): c.896G> C (p.Arg299Thr) single nucleotide variant Benign/Likely benign rs139590716 GRCh37 Chromosome 3, 14180693: 14180693
40 TMEM43 NM_024334.2(TMEM43): c.896G> C (p.Arg299Thr) single nucleotide variant Benign/Likely benign rs139590716 GRCh38 Chromosome 3, 14139193: 14139193
41 TMEM43 NM_024334.2(TMEM43): c.1141G> A (p.Gly381Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs767916602 GRCh37 Chromosome 3, 14183233: 14183233
42 TMEM43 NM_024334.2(TMEM43): c.1141G> A (p.Gly381Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs767916602 GRCh38 Chromosome 3, 14141733: 14141733
43 TMEM43 NM_024334.2(TMEM43): c.1073C> T (p.Ser358Leu) single nucleotide variant Pathogenic rs63750743 GRCh37 Chromosome 3, 14183165: 14183165
44 TMEM43 NM_024334.2(TMEM43): c.1073C> T (p.Ser358Leu) single nucleotide variant Pathogenic rs63750743 GRCh38 Chromosome 3, 14141665: 14141665
45 TMEM43 NM_024334.2(TMEM43): c.1150C> G (p.Leu384Val) single nucleotide variant Conflicting interpretations of pathogenicity rs193922706 GRCh37 Chromosome 3, 14183242: 14183242
46 TMEM43 NM_024334.2(TMEM43): c.1150C> G (p.Leu384Val) single nucleotide variant Conflicting interpretations of pathogenicity rs193922706 GRCh38 Chromosome 3, 14141742: 14141742
47 TMEM43 NM_024334.2(TMEM43): c.797G> A (p.Arg266Gln) single nucleotide variant Uncertain significance rs193922707 GRCh37 Chromosome 3, 14177323: 14177323
48 TMEM43 NM_024334.2(TMEM43): c.797G> A (p.Arg266Gln) single nucleotide variant Uncertain significance rs193922707 GRCh38 Chromosome 3, 14135823: 14135823
49 TMEM43 NM_024334.2(TMEM43): c.934C> T (p.Arg312Trp) single nucleotide variant Benign/Likely benign rs113449357 GRCh37 Chromosome 3, 14180731: 14180731
50 TMEM43 NM_024334.2(TMEM43): c.934C> T (p.Arg312Trp) single nucleotide variant Benign/Likely benign rs113449357 GRCh38 Chromosome 3, 14139231: 14139231

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:

(show all 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.12 CDH2 CTNNB1 MEF2C PPARG SCN5A
2
Show member pathways
12.17 CTNNB1 MEF2C NKX2-5
3 11.82 CTNNB1 MEF2C SCN5A
4 11.74 CDH2 CTNNB1 MEF2C
5 11.66 CTNNB1 MEF2C PPARG
6 11.52 CDH2 CTNNB1 MEF2C
7 11.34 CTNNB1 PPARG
8 11.32 MEF2C PPARG
9 11.28 CTNNB1 PPARG
10 11.14 CDH2 CTNNB1
11 11.13 CDH2 CTNNB1
12
Show member pathways
11.1 CDH2 CTNNB1 MEF2C
13 11.01 CDH2 CTNNB1
14 10.98 CDH2 CTNNB1
15 10.86 MEF2C NKX2-5 SCN5A
16 10.8 MEF2C NKX2-5
17 10.46 CTNNB1 MEF2C NKX2-5
18 10.44 MEF2C NKX2-5

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 focal adhesion GO:0005925 9.58 CDH2 CTNNB1 XIRP1
2 protein-containing complex GO:0032991 9.46 CTNNB1 MEF2C NKX2-5 PPARG
3 lateral plasma membrane GO:0016328 9.37 CTNNB1 SCN5A
4 protein-DNA complex GO:0032993 9.32 CTNNB1 NKX2-5
5 catenin complex GO:0016342 9.26 CDH2 CTNNB1
6 fascia adherens GO:0005916 8.96 CDH2 CTNNB1
7 intercalated disc GO:0014704 8.8 CDH2 CTNNB1 SCN5A

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

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 9.9 CTNNB1 MEF2C NKX2-5 PPARG
2 negative regulation of transcription by RNA polymerase II GO:0000122 9.85 CTNNB1 MEF2C NKX2-5 PPARG
3 positive regulation of transcription, DNA-templated GO:0045893 9.76 CTNNB1 MEF2C NKX2-5 PPARG
4 cell fate commitment GO:0045165 9.63 MEF2C PPARG
5 heart looping GO:0001947 9.62 MEF2C NKX2-5
6 positive regulation of osteoblast differentiation GO:0045669 9.62 CTNNB1 MEF2C
7 vasculogenesis GO:0001570 9.61 CTNNB1 NKX2-5
8 odontogenesis of dentin-containing tooth GO:0042475 9.61 CTNNB1 SCN5A
9 outflow tract morphogenesis GO:0003151 9.59 MEF2C NKX2-5
10 cardiac muscle contraction GO:0060048 9.58 NKX2-5 SCN5A
11 adherens junction organization GO:0034332 9.58 CDH2 CTNNB1
12 negative regulation of blood vessel endothelial cell migration GO:0043537 9.57 MEF2C PPARG
13 negative regulation of vascular smooth muscle cell proliferation GO:1904706 9.56 MEF2C PPARG
14 cell maturation GO:0048469 9.54 CTNNB1 PPARG
15 telencephalon development GO:0021537 9.52 CDH2 SCN5A
16 regulation of synaptic transmission, glutamatergic GO:0051966 9.51 CDH2 MEF2C
17 negative regulation of vascular endothelial cell proliferation GO:1905563 9.49 MEF2C PPARG
18 cardiac muscle cell differentiation GO:0055007 9.48 MEF2C NKX2-5
19 embryonic heart tube development GO:0035050 9.43 CTNNB1 NKX2-5
20 monocyte differentiation GO:0030224 9.4 MEF2C PPARG
21 positive regulation of sodium ion transport GO:0010765 9.37 NKX2-5 SCN5A
22 smooth muscle cell differentiation GO:0051145 9.32 CTNNB1 MEF2C
23 positive regulation of skeletal muscle tissue development GO:0048643 9.26 CTNNB1 MEF2C
24 cardiac ventricle formation GO:0003211 9.16 MEF2C NKX2-5
25 positive regulation of muscle cell differentiation GO:0051149 9.13 CDH2 CTNNB1 MEF2C
26 heart development GO:0007507 9.02 CTNNB1 MEF2C NKX2-5 PPARG XIRP1

Molecular functions related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 9.76 CTNNB1 MEF2C NKX2-5 PPARG
2 transcription factor binding GO:0008134 9.67 CTNNB1 NKX2-5 PPARG
3 protein heterodimerization activity GO:0046982 9.62 CTNNB1 MEF2C NKX2-5 PPARG
4 chromatin binding GO:0003682 9.56 CTNNB1 MEF2C NKX2-5 PPARG
5 transcription regulatory region DNA binding GO:0044212 9.54 MEF2C NKX2-5 PPARG
6 protein self-association GO:0043621 9.48 PPARG TMEM43
7 estrogen receptor binding GO:0030331 9.43 CTNNB1 PPARG
8 activating transcription factor binding GO:0033613 9.4 MEF2C PPARG
9 enzyme binding GO:0019899 9.26 CDH2 CTNNB1 PPARG SCN5A
10 alpha-catenin binding GO:0045294 9.16 CDH2 CTNNB1
11 protein phosphatase binding GO:0019903 8.8 CDH2 CTNNB1 PPARG

Sources for Arrhythmogenic Right Ventricular Dysplasia, Familial, 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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