ARVD9
MCID: ARR023
MIFTS: 41

Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 (ARVD9)

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

Aliases & Classifications for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

MalaCards integrated aliases for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9:

Name: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 58 76 74
Arrhythmogenic Right Ventricular Dysplasia 9 58 12 13 15
Arrhythmogenic Right Ventricular Cardiomyopathy 9 58 12 76
Arvd9 58 12 76
Arvc9 58 12 76
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 9 30 6
Arrhythmogenic Right Ventricular Cardiomyopathy 9; Arvc9 58
Familial Arrhythmogenic Right Ventricular Dysplasia 9 12
Dysplasia, Arrhythmogenic Right Ventricular, Type 9 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
arrhythmogenic right ventricular dysplasia, familial, 9:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110077
OMIM 58 609040
MeSH 45 D019571
ICD10 34 I42.8
MedGen 43 C1836906
UMLS 74 C1836906

Summaries for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

UniProtKB/Swiss-Prot : 76 Arrhythmogenic right ventricular dysplasia, familial, 9: 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, 9, also known as arrhythmogenic right ventricular dysplasia 9, is related to arrhythmogenic right ventricular dysplasia, familial, 4 and grover's disease, and has symptoms including syncope An important gene associated with Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 is PKP2 (Plakophilin 2), and among its related pathways/superpathways are Keratinization and Arrhythmogenic right ventricular cardiomyopathy (ARVC). Affiliated tissues include heart and skin, and related phenotypes are sudden cardiac death and syncope

Disease Ontology : 12 An arrhythmogenic right ventricular dysplasia that has material basis in heterozygous mutations in the PKP2 gene on chromosome 12p11.

Description from OMIM: 609040

Related Diseases for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

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

(show all 33)
# Related Disease Score Top Affiliating Genes
1 arrhythmogenic right ventricular dysplasia, familial, 4 10.1 PKP2 TGFB3
2 grover's disease 10.0 DSP JUP
3 left bundle branch hemiblock 10.0 JUP PKP2
4 epidermolysis bullosa, lethal acantholytic 10.0 DSP JUP
5 palmoplantar keratoderma and woolly hair 10.0 DSP JUP
6 ectodermal dysplasia/skin fragility syndrome 9.9 DSP JUP
7 benign chronic pemphigus 9.9 DSP JUP
8 pemphigus 9.9 DSP JUP
9 darier-white disease 9.9 DSP JUP
10 palmoplantar keratosis 9.8 DSP JUP
11 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 9.8 DSP RYR2
12 naxos disease 9.8 DSP JUP PKP2
13 ventricular fibrillation, paroxysmal familial, 1 9.7 DSP RYR2
14 pemphigus vulgaris 9.7 DSP JUP
15 cardiac arrhythmia 9.7 JUP RYR2
16 long qt syndrome 1 9.6 DSP PKP2 RYR2
17 cardiac conduction defect 9.6 DSP PLN RYR2
18 cardiac arrest 9.6 DSP PLN RYR2
19 hypertrophic cardiomyopathy 9.6 DSP PLN RYR2
20 arrhythmogenic right ventricular dysplasia, familial, 2 9.5 JUP RYR2 TGFB3
21 atrial standstill 1 9.5 DSP JUP PKP2 PLN
22 catecholaminergic polymorphic ventricular tachycardia 9.5 DSP RYR2
23 cardiomyopathy, dilated, with woolly hair and keratoderma 9.5 DSP JUP PKP2 TGFB3
24 heart disease 9.3 DSP PKP2 RYR2 TGFB3
25 intrinsic cardiomyopathy 9.3 DSP JUP PKP2 RYR2
26 arrhythmogenic right ventricular dysplasia, familial, 1 9.2 DSP JUP RYR2 TGFB3
27 dilated cardiomyopathy 9.0 DSP JUP PKP2 PLN RYR2
28 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 9.0 DSP JUP PKP2 RYR2 TGFB3
29 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 9.0 DSP JUP PKP2 RYR2 TGFB3
30 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 9.0 DSP JUP PKP2 RYR2 TGFB3
31 arrhythmogenic right ventricular dysplasia, familial, 8 9.0 DSP JUP PKP2 RYR2 TGFB3
32 left ventricular noncompaction 9.0 DSP JUP PKP2 RYR2 TGFB3
33 arrhythmogenic right ventricular cardiomyopathy 8.7 DSP JUP PKP2 PLN RYR2 TGFB3

Graphical network of the top 20 diseases related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 9:



Diseases related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

Symptoms & Phenotypes for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

Human phenotypes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 9:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 sudden cardiac death 33 HP:0001645
2 syncope 33 HP:0001279
3 palpitations 33 HP:0001962
4 ventricular arrhythmia 33 HP:0004308
5 dilatation of the ventricular cavity 33 HP:0006698
6 dilatation 33 HP:0002617
7 right ventricular cardiomyopathy 33 HP:0011663

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Heart:
sudden cardiac death
syncope
palpitations
ventricular arrhythmia
cardiomyopathy, right ventricular
more

Clinical features from OMIM:

609040

UMLS symptoms related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 9:


syncope

MGI Mouse Phenotypes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 9:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.35 DSP JUP PKP2 RYR2 TGFB3
2 muscle MP:0005369 8.92 DSP JUP PKP2 RYR2

Drugs & Therapeutics for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

Search Clinical Trials , NIH Clinical Center for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

Genetic Tests for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

Genetic tests related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 9:

# Genetic test Affiliating Genes
1 Arrhythmogenic Right Ventricular Cardiomyopathy, Type 9 30 PKP2

Anatomical Context for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

MalaCards organs/tissues related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 9:

42
Heart, Skin

Publications for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

Articles related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 9:

# Title Authors Year
1
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. ( 27854360 )
2017
2
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. ( 25356965 )
2015
3
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. ( 23788249 )
2013
4
Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. ( 15489853 )
2004

Variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

UniProtKB/Swiss-Prot genetic disease variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9:

76
# Symbol AA change Variation ID SNP ID
1 PKP2 p.Ser615Phe VAR_021149 rs106050118
2 PKP2 p.Lys654Gln VAR_021150 rs131969051
3 PKP2 p.Cys796Arg VAR_021151 rs794729098
4 PKP2 p.Glu137Lys VAR_065705 rs781739949
5 PKP2 p.Ser169Gly VAR_065706 rs139139859
6 PKP2 p.Phe424Ser VAR_065711 rs397516990
7 PKP2 p.Tyr631Cys VAR_065716 rs106050118
8 PKP2 p.Leu787Phe VAR_065718 rs146268898

ClinVar genetic disease variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9:

6 (show top 50) (show all 584)
# Gene Variation Type Significance SNP ID Assembly Location
1 PKP2 NM_004572.3(PKP2): c.235C> T (p.Arg79Ter) single nucleotide variant Pathogenic rs121434420 GRCh37 Chromosome 12, 33031955: 33031955
2 PKP2 NM_004572.3(PKP2): c.235C> T (p.Arg79Ter) single nucleotide variant Pathogenic rs121434420 GRCh38 Chromosome 12, 32879021: 32879021
3 PKP2 NM_004572.3(PKP2): c.2203C> T (p.Arg735Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121434421 GRCh37 Chromosome 12, 32955433: 32955433
4 PKP2 NM_004572.3(PKP2): c.2203C> T (p.Arg735Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121434421 GRCh38 Chromosome 12, 32802499: 32802499
5 PKP2 NM_004572.3(PKP2): c.2146-1G> C single nucleotide variant Pathogenic rs193922674 GRCh37 Chromosome 12, 32955491: 32955491
6 PKP2 NM_004572.3(PKP2): c.2146-1G> C single nucleotide variant Pathogenic rs193922674 GRCh38 Chromosome 12, 32802557: 32802557
7 PKP2 NM_004572.3(PKP2): c.2489+1G> A single nucleotide variant Pathogenic rs111517471 GRCh37 Chromosome 12, 32949042: 32949042
8 PKP2 NM_004572.3(PKP2): c.2489+1G> A single nucleotide variant Pathogenic rs111517471 GRCh38 Chromosome 12, 32796108: 32796108
9 PKP2 NM_004572.3(PKP2): c.1613G> A (p.Trp538Ter) single nucleotide variant Pathogenic/Likely pathogenic rs193922672 GRCh37 Chromosome 12, 32994037: 32994037
10 PKP2 NM_004572.3(PKP2): c.1613G> A (p.Trp538Ter) single nucleotide variant Pathogenic/Likely pathogenic rs193922672 GRCh38 Chromosome 12, 32841103: 32841103
11 PKP2 NM_004572.3(PKP2): c.1759G> A (p.Val587Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs146102241 GRCh37 Chromosome 12, 32977026: 32977026
12 PKP2 NM_004572.3(PKP2): c.1759G> A (p.Val587Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs146102241 GRCh38 Chromosome 12, 32824092: 32824092
13 PKP2 NM_004572.3(PKP2): c.2028G> A (p.Trp676Ter) single nucleotide variant Pathogenic/Likely pathogenic rs193922673 GRCh37 Chromosome 12, 32974407: 32974407
14 PKP2 NM_004572.3(PKP2): c.2028G> A (p.Trp676Ter) single nucleotide variant Pathogenic/Likely pathogenic rs193922673 GRCh38 Chromosome 12, 32821473: 32821473
15 PKP2 NM_004572.3(PKP2): c.336+17T> G single nucleotide variant Uncertain significance rs185681814 GRCh37 Chromosome 12, 33031837: 33031837
16 PKP2 NM_004572.3(PKP2): c.336+17T> G single nucleotide variant Uncertain significance rs185681814 GRCh38 Chromosome 12, 32878903: 32878903
17 PLN NM_002667.4(PLN): c.40_42delAGA (p.Arg14del) deletion Pathogenic rs397516784 GRCh37 Chromosome 6, 118880124: 118880126
18 PLN NM_002667.4(PLN): c.40_42delAGA (p.Arg14del) deletion Pathogenic rs397516784 GRCh38 Chromosome 6, 118558961: 118558963
19 PKP2 NM_004572.3(PKP2): c.505A> G (p.Ser169Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs139139859 GRCh37 Chromosome 12, 33031309: 33031309
20 PKP2 NM_004572.3(PKP2): c.1012A> G (p.Thr338Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs139851304 GRCh37 Chromosome 12, 33030802: 33030802
21 PKP2 NM_004572.3(PKP2): c.1012A> G (p.Thr338Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs139851304 GRCh38 Chromosome 12, 32877868: 32877868
22 PKP2 NM_004572.3(PKP2): c.1034+4delA deletion Uncertain significance rs397516983 GRCh37 Chromosome 12, 33030776: 33030776
23 PKP2 NM_004572.3(PKP2): c.1034+4delA deletion Uncertain significance rs397516983 GRCh38 Chromosome 12, 32877842: 32877842
24 PKP2 NM_004572.3(PKP2): c.1080C> T (p.Leu360=) single nucleotide variant Likely benign rs397516984 GRCh37 Chromosome 12, 33021951: 33021951
25 PKP2 NM_004572.3(PKP2): c.1080C> T (p.Leu360=) single nucleotide variant Likely benign rs397516984 GRCh38 Chromosome 12, 32869017: 32869017
26 PKP2 NM_004572.3(PKP2): c.1097T> C (p.Leu366Pro) single nucleotide variant Benign/Likely benign rs1046116 GRCh37 Chromosome 12, 33021934: 33021934
27 PKP2 NM_004572.3(PKP2): c.1097T> C (p.Leu366Pro) single nucleotide variant Benign/Likely benign rs1046116 GRCh38 Chromosome 12, 32869000: 32869000
28 PKP2 NM_004572.3(PKP2): c.1114G> C (p.Ala372Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs200586695 GRCh37 Chromosome 12, 33021917: 33021917
29 PKP2 NM_004572.3(PKP2): c.1114G> C (p.Ala372Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs200586695 GRCh38 Chromosome 12, 32868983: 32868983
30 PKP2 NM_004572.3(PKP2): c.1116T> C (p.Ala372=) single nucleotide variant Conflicting interpretations of pathogenicity rs142742483 GRCh37 Chromosome 12, 33021915: 33021915
31 PKP2 NM_004572.3(PKP2): c.1116T> C (p.Ala372=) single nucleotide variant Conflicting interpretations of pathogenicity rs142742483 GRCh38 Chromosome 12, 32868981: 32868981
32 PKP2 NM_004572.3(PKP2): c.1130T> C (p.Ile377Thr) single nucleotide variant Uncertain significance rs397516985 GRCh37 Chromosome 12, 33021901: 33021901
33 PKP2 NM_004572.3(PKP2): c.1130T> C (p.Ile377Thr) single nucleotide variant Uncertain significance rs397516985 GRCh38 Chromosome 12, 32868967: 32868967
34 PKP2 NM_004572.3(PKP2): c.1171-10T> C single nucleotide variant Conflicting interpretations of pathogenicity rs200122872 GRCh37 Chromosome 12, 33003917: 33003917
35 PKP2 NM_004572.3(PKP2): c.1171-10T> C single nucleotide variant Conflicting interpretations of pathogenicity rs200122872 GRCh38 Chromosome 12, 32850983: 32850983
36 PKP2 NM_004572.3(PKP2): c.1171-11T> C single nucleotide variant Benign/Likely benign rs183414126 GRCh37 Chromosome 12, 33003918: 33003918
37 PKP2 NM_004572.3(PKP2): c.1171-11T> C single nucleotide variant Benign/Likely benign rs183414126 GRCh38 Chromosome 12, 32850984: 32850984
38 PKP2 NM_004572.3(PKP2): c.1211dupT (p.Val406Serfs) duplication Pathogenic rs397516989 GRCh37 Chromosome 12, 33003867: 33003867
39 PKP2 NM_004572.3(PKP2): c.1211dupT (p.Val406Serfs) duplication Pathogenic rs397516989 GRCh38 Chromosome 12, 32850933: 32850933
40 PKP2 NM_004572.3(PKP2): c.1237C> T (p.Arg413Ter) single nucleotide variant Pathogenic rs372827156 GRCh37 Chromosome 12, 33003841: 33003841
41 PKP2 NM_004572.3(PKP2): c.1237C> T (p.Arg413Ter) single nucleotide variant Pathogenic rs372827156 GRCh38 Chromosome 12, 32850907: 32850907
42 PKP2 NM_004572.3(PKP2): c.12C> T (p.Pro4=) single nucleotide variant Likely benign rs397516991 GRCh37 Chromosome 12, 33049654: 33049654
43 PKP2 NM_004572.3(PKP2): c.12C> T (p.Pro4=) single nucleotide variant Likely benign rs397516991 GRCh38 Chromosome 12, 32896720: 32896720
44 PKP2 NM_004572.3(PKP2): c.1372A> G (p.Ile458Val) single nucleotide variant Conflicting interpretations of pathogenicity rs199571473 GRCh37 Chromosome 12, 33003706: 33003706
45 PKP2 NM_004572.3(PKP2): c.1372A> G (p.Ile458Val) single nucleotide variant Conflicting interpretations of pathogenicity rs199571473 GRCh38 Chromosome 12, 32850772: 32850772
46 PKP2 NM_004572.3(PKP2): c.1379-1G> A single nucleotide variant Conflicting interpretations of pathogenicity rs139159464 GRCh37 Chromosome 12, 32996248: 32996248
47 PKP2 NM_004572.3(PKP2): c.1379-1G> A single nucleotide variant Conflicting interpretations of pathogenicity rs139159464 GRCh38 Chromosome 12, 32843314: 32843314
48 PKP2 NM_004572.3(PKP2): c.1420G> A (p.Ala474Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs138538072 GRCh37 Chromosome 12, 32996206: 32996206
49 PKP2 NM_004572.3(PKP2): c.1420G> A (p.Ala474Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs138538072 GRCh38 Chromosome 12, 32843272: 32843272
50 PKP2 NM_004572.3(PKP2): c.1433C> T (p.Ala478Val) single nucleotide variant Conflicting interpretations of pathogenicity rs144620127 GRCh37 Chromosome 12, 32996193: 32996193

Expression for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

Search GEO for disease gene expression data for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9.

Pathways for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

Pathways related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.95 DSP JUP PKP2
2
Show member pathways
11.66 DSP JUP PKP2 RYR2
3
Show member pathways
11.58 PLN RYR2 TGFB3
4 11.52 DSP JUP
5
Show member pathways
11.44 DSP PKP2
6 11.32 PLN TGFB3
7 10.76 DSP JUP
8 10.67 DSP JUP PLN RYR2

GO Terms for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

Cellular components related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intermediate filament GO:0005882 9.54 DSP JUP PKP2
2 cell-cell junction GO:0005911 9.5 DSP JUP PKP2
3 cell-cell adherens junction GO:0005913 9.48 JUP PKP2
4 adherens junction GO:0005912 9.46 JUP PKP2
5 sarcoplasmic reticulum GO:0016529 9.43 PLN RYR2
6 sarcoplasmic reticulum membrane GO:0033017 9.4 PLN RYR2
7 cornified envelope GO:0001533 9.33 DSP JUP PKP2
8 fascia adherens GO:0005916 9.26 DSP JUP
9 intercalated disc GO:0014704 9.13 DSP JUP PKP2
10 desmosome GO:0030057 8.8 DSP JUP PKP2

Biological processes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 9.63 DSP JUP PKP2
2 cellular calcium ion homeostasis GO:0006874 9.55 PLN RYR2
3 wound healing GO:0042060 9.54 DSP TGFB3
4 cell-cell adhesion GO:0098609 9.54 DSP JUP PKP2
5 regulation of cytosolic calcium ion concentration GO:0051480 9.52 PLN RYR2
6 skin development GO:0043588 9.51 DSP JUP
7 cornification GO:0070268 9.5 DSP JUP PKP2
8 adherens junction organization GO:0034332 9.49 DSP JUP
9 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.48 PLN RYR2
10 ventricular cardiac muscle cell action potential GO:0086005 9.43 PKP2 RYR2
11 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.4 PKP2 RYR2
12 regulation of heart rate by cardiac conduction GO:0086091 9.33 DSP JUP PKP2
13 desmosome assembly GO:0002159 9.26 JUP PKP2
14 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.13 DSP JUP PKP2
15 regulation of ventricular cardiac muscle cell action potential GO:0098911 8.92 DSP JUP PKP2 RYR2

Molecular functions related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell adhesion molecule binding GO:0050839 9.26 DSP JUP
2 protein kinase C binding GO:0005080 9.16 DSP PKP2
3 alpha-catenin binding GO:0045294 8.96 JUP PKP2
4 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 8.8 DSP JUP PKP2

Sources for Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

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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