MCID: ARR018
MIFTS: 41

Arrhythmogenic Right Ventricular Dysplasia, Familial, 5

Categories: Genetic diseases, Cardiovascular 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 57 75 73
Arrhythmogenic Right Ventricular Dysplasia 5 57 12 13 15
Arrhythmogenic Right Ventricular Cardiomyopathy 5 57 12 75
Arvd5 57 12 75
Arvc5 57 12 75
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 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
arrhythmogenic right ventricular dysplasia, familial, 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 604400
Disease Ontology 12 DOID:0110074
ICD10 33 I42.8
MedGen 42 C1858379
MeSH 44 D019571
UMLS 73 C1858379

Summaries for Arrhythmogenic Right Ventricular Dysplasia, Familial, 5

UniProtKB/Swiss-Prot : 75 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 familial progressive cardiac conduction 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 G-Beta Gamma Signaling. Affiliated tissues include heart, and related phenotypes are congestive heart failure and sudden cardiac death

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

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

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
palpitations
premature ventricular contractions
bigeminy
left ventricular enlargement
presyncope or syncope
more

Clinical features from OMIM:

604400

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

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 congestive heart failure 32 HP:0001635
2 sudden cardiac death 32 HP:0001645
3 palpitations 32 HP:0001962
4 ventricular tachycardia 32 HP:0004756
5 prolonged qrs complex 32 HP:0006677
6 ventricular extrasystoles 32 HP:0006682
7 right ventricular cardiomyopathy 32 HP:0011663
8 chest pain 32 HP:0100749

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 10.03 MEF2A MEF2C NKX2-5 PPARG SCN5A XIRP1
2 growth/size/body region MP:0005378 10.02 CA2 CDH2 CTNNB1 MEF2A MEF2C NKX2-5
3 mortality/aging MP:0010768 9.92 CA2 CDH2 CTNNB1 MEF2A MEF2C NKX2-5
4 embryo MP:0005380 9.88 SCN5A CDH2 CTNNB1 MEF2C NKX2-5 PPARG
5 muscle MP:0005369 9.86 CDH2 CTNNB1 MEF2A MEF2C NKX2-5 PPARG
6 nervous system MP:0003631 9.76 CA2 CDH2 CTNNB1 MEF2A MEF2C NKX2-5
7 normal MP:0002873 9.43 CTNNB1 MEF2A MEF2C NKX2-5 PPARG SCN5A
8 respiratory system MP:0005388 9.02 CA2 CTNNB1 MEF2A MEF2C NKX2-5

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:

41
Heart

Publications for Arrhythmogenic Right Ventricular Dysplasia, Familial, 5

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

# Title Authors Year
1
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:

75
# 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 148)
# Gene Variation Type Significance SNP ID Assembly Location
1 TMEM43 NM_024334.2(TMEM43): c.1073C> T (p.Ser358Leu) single nucleotide variant Pathogenic rs63750743 GRCh37 Chromosome 3, 14183165: 14183165
2 TMEM43 NM_024334.2(TMEM43): c.1073C> T (p.Ser358Leu) single nucleotide variant Pathogenic rs63750743 GRCh38 Chromosome 3, 14141665: 14141665
3 TMEM43 NM_024334.2(TMEM43): c.45C> A (p.Val15=) single nucleotide variant Benign/Likely benign rs150334659 GRCh37 Chromosome 3, 14170944: 14170944
4 TMEM43 NM_024334.2(TMEM43): c.45C> A (p.Val15=) single nucleotide variant Benign/Likely benign rs150334659 GRCh38 Chromosome 3, 14129444: 14129444
5 TMEM43 NM_024334.2(TMEM43): c.163-3delC deletion Conflicting interpretations of pathogenicity rs371706980 GRCh37 Chromosome 3, 14172319: 14172319
6 TMEM43 NM_024334.2(TMEM43): c.163-3delC deletion Conflicting interpretations of pathogenicity rs371706980 GRCh38 Chromosome 3, 14130819: 14130819
7 TMEM43 NM_024334.2(TMEM43): c.442+7G> A single nucleotide variant Likely benign rs373590238 GRCh37 Chromosome 3, 14174102: 14174102
8 TMEM43 NM_024334.2(TMEM43): c.442+7G> A single nucleotide variant Likely benign rs373590238 GRCh38 Chromosome 3, 14132602: 14132602
9 TMEM43 NM_024334.2(TMEM43): c.698A> G (p.Tyr233Cys) single nucleotide variant Benign/Likely benign rs35924492 GRCh37 Chromosome 3, 14176384: 14176384
10 TMEM43 NM_024334.2(TMEM43): c.698A> G (p.Tyr233Cys) single nucleotide variant Benign/Likely benign rs35924492 GRCh38 Chromosome 3, 14134884: 14134884
11 TMEM43 NM_024334.2(TMEM43): c.1095G> A (p.Ala365=) single nucleotide variant Likely benign rs141675061 GRCh37 Chromosome 3, 14183187: 14183187
12 TMEM43 NM_024334.2(TMEM43): c.1095G> A (p.Ala365=) single nucleotide variant Likely benign rs141675061 GRCh38 Chromosome 3, 14141687: 14141687
13 TMEM43 NM_024334.2(TMEM43): c.280G> A (p.Ala94Thr) single nucleotide variant Uncertain significance rs369142200 GRCh37 Chromosome 3, 14172439: 14172439
14 TMEM43 NM_024334.2(TMEM43): c.280G> A (p.Ala94Thr) single nucleotide variant Uncertain significance rs369142200 GRCh38 Chromosome 3, 14130939: 14130939
15 TMEM43 NM_024334.2(TMEM43): c.428C> T (p.Thr143Met) single nucleotide variant Uncertain significance rs544554435 GRCh37 Chromosome 3, 14174081: 14174081
16 TMEM43 NM_024334.2(TMEM43): c.428C> T (p.Thr143Met) single nucleotide variant Uncertain significance rs544554435 GRCh38 Chromosome 3, 14132581: 14132581
17 TMEM43 NM_024334.2(TMEM43): c.484G> A (p.Asp162Asn) single nucleotide variant Uncertain significance rs150425166 GRCh37 Chromosome 3, 14174407: 14174407
18 TMEM43 NM_024334.2(TMEM43): c.484G> A (p.Asp162Asn) single nucleotide variant Uncertain significance rs150425166 GRCh38 Chromosome 3, 14132907: 14132907
19 TMEM43 NM_024334.2(TMEM43): c.644A> C (p.His215Pro) single nucleotide variant Uncertain significance rs730880225 GRCh37 Chromosome 3, 14176330: 14176330
20 TMEM43 NM_024334.2(TMEM43): c.644A> C (p.His215Pro) single nucleotide variant Uncertain significance rs730880225 GRCh38 Chromosome 3, 14134830: 14134830
21 TMEM43 NM_024334.2(TMEM43): c.796C> T (p.Arg266Trp) single nucleotide variant Uncertain significance rs139842014 GRCh37 Chromosome 3, 14177322: 14177322
22 TMEM43 NM_024334.2(TMEM43): c.796C> T (p.Arg266Trp) single nucleotide variant Uncertain significance rs139842014 GRCh38 Chromosome 3, 14135822: 14135822
23 TMEM43 NM_024334.2(TMEM43): c.865G> A (p.Gly289Arg) single nucleotide variant Uncertain significance rs730880226 GRCh37 Chromosome 3, 14177391: 14177391
24 TMEM43 NM_024334.2(TMEM43): c.865G> A (p.Gly289Arg) single nucleotide variant Uncertain significance rs730880226 GRCh38 Chromosome 3, 14135891: 14135891
25 TMEM43 NM_024334.2(TMEM43): c.164G> A (p.Gly55Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs201453637 GRCh38 Chromosome 3, 14130823: 14130823
26 TMEM43 NM_024334.2(TMEM43): c.164G> A (p.Gly55Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs201453637 GRCh37 Chromosome 3, 14172323: 14172323
27 TMEM43 NM_024334.2(TMEM43): c.296A> G (p.Lys99Arg) single nucleotide variant Uncertain significance rs199943048 GRCh37 Chromosome 3, 14172455: 14172455
28 TMEM43 NM_024334.2(TMEM43): c.296A> G (p.Lys99Arg) single nucleotide variant Uncertain significance rs199943048 GRCh38 Chromosome 3, 14130955: 14130955
29 TMEM43 NM_024334.2(TMEM43): c.98C> T (p.Ser33Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs539753097 GRCh37 Chromosome 3, 14170997: 14170997
30 TMEM43 NM_024334.2(TMEM43): c.98C> T (p.Ser33Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs539753097 GRCh38 Chromosome 3, 14129497: 14129497
31 TMEM43 NM_024334.2(TMEM43): c.214G> A (p.Val72Met) single nucleotide variant Uncertain significance rs368603914 GRCh38 Chromosome 3, 14130873: 14130873
32 TMEM43 NM_024334.2(TMEM43): c.214G> A (p.Val72Met) single nucleotide variant Uncertain significance rs368603914 GRCh37 Chromosome 3, 14172373: 14172373
33 TMEM43 NM_024334.2(TMEM43): c.286C> G (p.Arg96Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs754797146 GRCh38 Chromosome 3, 14130945: 14130945
34 TMEM43 NM_024334.2(TMEM43): c.286C> G (p.Arg96Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs754797146 GRCh37 Chromosome 3, 14172445: 14172445
35 TMEM43 NM_024334.2(TMEM43): c.659G> A (p.Arg220His) single nucleotide variant Uncertain significance rs570836197 GRCh37 Chromosome 3, 14176345: 14176345
36 TMEM43 NM_024334.2(TMEM43): c.659G> A (p.Arg220His) single nucleotide variant Uncertain significance rs570836197 GRCh38 Chromosome 3, 14134845: 14134845
37 TMEM43 NM_024334.2(TMEM43): c.718C> T (p.Arg240Cys) single nucleotide variant Uncertain significance rs367910936 GRCh37 Chromosome 3, 14176670: 14176670
38 TMEM43 NM_024334.2(TMEM43): c.718C> T (p.Arg240Cys) single nucleotide variant Uncertain significance rs367910936 GRCh38 Chromosome 3, 14135170: 14135170
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.803G> T (p.Arg268Leu) single nucleotide variant Uncertain significance rs769969149 GRCh37 Chromosome 3, 14177329: 14177329
44 TMEM43 NM_024334.2(TMEM43): c.803G> T (p.Arg268Leu) single nucleotide variant Uncertain significance rs769969149 GRCh38 Chromosome 3, 14135829: 14135829
45 TMEM43 NM_024334.2(TMEM43): c.402C> T (p.Thr134=) single nucleotide variant Likely benign rs370422391 GRCh37 Chromosome 3, 14174055: 14174055
46 TMEM43 NM_024334.2(TMEM43): c.402C> T (p.Thr134=) single nucleotide variant Likely benign rs370422391 GRCh38 Chromosome 3, 14132555: 14132555
47 TMEM43 NM_024334.2(TMEM43): c.136T> C (p.Ser46Pro) single nucleotide variant Uncertain significance rs145510310 GRCh37 Chromosome 3, 14171035: 14171035
48 TMEM43 NM_024334.2(TMEM43): c.136T> C (p.Ser46Pro) single nucleotide variant Uncertain significance rs145510310 GRCh38 Chromosome 3, 14129535: 14129535
49 TMEM43 NM_024334.2(TMEM43): c.429G> A (p.Thr143=) single nucleotide variant Likely benign rs201217046 GRCh37 Chromosome 3, 14174082: 14174082
50 TMEM43 NM_024334.2(TMEM43): c.429G> A (p.Thr143=) single nucleotide variant Likely benign rs201217046 GRCh38 Chromosome 3, 14132582: 14132582

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 20)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.12 CDH2 CTNNB1 MEF2A MEF2C PPARG SCN5A
2
Show member pathways
12.75 CTNNB1 MEF2A MEF2C SCN5A
3
Show member pathways
12.21 CTNNB1 MEF2C NKX2-5
4 11.87 CTNNB1 MEF2C SCN5A
5 11.78 CTNNB1 MEF2A MEF2C
6 11.78 CDH2 CTNNB1 MEF2A MEF2C
7 11.68 CTNNB1 MEF2A MEF2C PPARG
8 11.55 CDH2 CTNNB1 MEF2A MEF2C
9 11.3 MEF2C NKX2-5 SCN5A
10 11.21 CTNNB1 MEF2C NKX2-5
11 11.18 CDH2 CTNNB1
12 11.17 CDH2 CTNNB1
13 11.14 MEF2A MEF2C
14 11.1 MEF2A MEF2C
15 11.08 MEF2A MEF2C
16 11.04 CDH2 CTNNB1
17 11.02 CDH2 CTNNB1
18 10.84 MEF2C NKX2-5
19
Show member pathways
10.69 CDH2 CTNNB1 MEF2A MEF2C
20 10.25 MEF2A 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 transcription factor complex GO:0005667 9.58 CTNNB1 MEF2A NKX2-5
2 protein-containing complex GO:0032991 9.56 CTNNB1 MEF2C NKX2-5 PPARG
3 basolateral plasma membrane GO:0016323 9.5 CA2 CDH2 CTNNB1
4 protein-DNA complex GO:0032993 9.43 CTNNB1 NKX2-5
5 catenin complex GO:0016342 9.37 CDH2 CTNNB1
6 fascia adherens GO:0005916 9.16 CDH2 CTNNB1
7 apical part of cell GO:0045177 9.13 CA2 CDH2 CTNNB1
8 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 28)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.98 CDH2 MEF2A MEF2C NKX2-5 PPARG
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.96 CTNNB1 MEF2A MEF2C NKX2-5 PPARG
3 cell differentiation GO:0030154 9.93 CTNNB1 MEF2A MEF2C NKX2-5 PPARG
4 transcription by RNA polymerase II GO:0006366 9.91 CTNNB1 MEF2A MEF2C NKX2-5
5 negative regulation of transcription by RNA polymerase II GO:0000122 9.85 CTNNB1 MEF2A MEF2C NKX2-5 PPARG
6 positive regulation of transcription, DNA-templated GO:0045893 9.77 CTNNB1 MEF2A MEF2C NKX2-5 PPARG
7 cardiac conduction GO:0061337 9.64 MEF2A SCN5A
8 cardiac muscle contraction GO:0060048 9.63 NKX2-5 SCN5A
9 adherens junction organization GO:0034332 9.63 CDH2 CTNNB1
10 negative regulation of blood vessel endothelial cell migration GO:0043537 9.62 MEF2C PPARG
11 cell maturation GO:0048469 9.62 CTNNB1 PPARG
12 negative regulation of vascular smooth muscle cell proliferation GO:1904706 9.61 MEF2C PPARG
13 cardiac muscle cell differentiation GO:0055007 9.6 MEF2C NKX2-5
14 telencephalon development GO:0021537 9.59 CDH2 SCN5A
15 negative regulation of vascular endothelial cell proliferation GO:1905563 9.58 MEF2C PPARG
16 cellular response to calcium ion GO:0071277 9.58 MEF2A MEF2C SCN5A
17 regulation of synaptic transmission, glutamatergic GO:0051966 9.57 CDH2 MEF2C
18 embryonic heart tube development GO:0035050 9.55 CTNNB1 NKX2-5
19 monocyte differentiation GO:0030224 9.52 MEF2C PPARG
20 positive regulation of sodium ion transport GO:0010765 9.51 NKX2-5 SCN5A
21 smooth muscle cell differentiation GO:0051145 9.49 CTNNB1 MEF2C
22 cellular response to fluid shear stress GO:0071498 9.48 CA2 MEF2C
23 positive regulation of skeletal muscle tissue development GO:0048643 9.43 CTNNB1 MEF2C
24 odontogenesis of dentin-containing tooth GO:0042475 9.43 CA2 CTNNB1 SCN5A
25 cardiac ventricle formation GO:0003211 9.32 MEF2C NKX2-5
26 positive regulation of muscle cell differentiation GO:0051149 9.26 CDH2 CTNNB1 MEF2A MEF2C
27 ventricular cardiac myofibril assembly GO:0055005 9.16 MEF2A NKX2-5
28 heart development GO:0007507 9.1 CTNNB1 MEF2A MEF2C NKX2-5 PPARG XIRP1

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 DNA binding transcription factor activity GO:0003700 9.92 CTNNB1 MEF2A MEF2C NKX2-5 PPARG
2 sequence-specific DNA binding GO:0043565 9.86 MEF2A MEF2C NKX2-5 PPARG
3 protein kinase binding GO:0019901 9.81 CDH2 CTNNB1 MEF2A SCN5A
4 enzyme binding GO:0019899 9.78 CDH2 CTNNB1 PPARG SCN5A
5 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding GO:0001077 9.77 MEF2A MEF2C NKX2-5
6 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.75 MEF2A MEF2C PPARG
7 protein heterodimerization activity GO:0046982 9.72 CTNNB1 MEF2A MEF2C NKX2-5 PPARG
8 transcription regulatory region DNA binding GO:0044212 9.67 MEF2A MEF2C NKX2-5 PPARG
9 transcription regulatory region sequence-specific DNA binding GO:0000976 9.63 MEF2A MEF2C PPARG
10 SMAD binding GO:0046332 9.61 CTNNB1 MEF2A
11 protein phosphatase binding GO:0019903 9.61 CDH2 CTNNB1 PPARG
12 core promoter sequence-specific DNA binding GO:0001046 9.58 MEF2C PPARG
13 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 9.58 MEF2A MEF2C NKX2-5
14 estrogen receptor binding GO:0030331 9.57 CTNNB1 PPARG
15 transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific DNA binding GO:0001205 9.55 MEF2A MEF2C
16 chromatin binding GO:0003682 9.55 CTNNB1 MEF2A MEF2C NKX2-5 PPARG
17 transcription factor activity, RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000982 9.54 MEF2A MEF2C
18 alpha-catenin binding GO:0045294 9.49 CDH2 CTNNB1
19 RNA polymerase II activating transcription factor binding GO:0001102 9.43 CTNNB1 MEF2A MEF2C
20 activating transcription factor binding GO:0033613 9.13 MEF2A MEF2C PPARG
21 transcription factor binding GO:0008134 9.02 CTNNB1 MEF2A MEF2C NKX2-5 PPARG
22 protein binding GO:0005515 10.29 CA2 CDH2 CTNNB1 MEF2A MEF2C NKX2-5

Sources for Arrhythmogenic Right Ventricular Dysplasia, Familial, 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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