MCID: DYS032
MIFTS: 44

Dystrophinopathies

Categories: Rare diseases, Genetic diseases

Aliases & Classifications for Dystrophinopathies

MalaCards integrated aliases for Dystrophinopathies:

Name: Dystrophinopathies 23 24 29
Dystrophinopathy 50

Characteristics:

GeneReviews:

23
Penetrance Penetrance of dystrophinopathies is complete in males...

Classifications:



Summaries for Dystrophinopathies

MalaCards based summary : Dystrophinopathies, also known as dystrophinopathy, is related to becker muscular dystrophy and duchenne muscular dystrophy. An important gene associated with Dystrophinopathies is DMD (Dystrophin), and among its related pathways/superpathways are ERK Signaling and Apoptotic Pathways in Synovial Fibroblasts. The drug arginine has been mentioned in the context of this disorder. Affiliated tissues include heart, testes and skeletal muscle, and related phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and cardiovascular system

GeneReviews: NBK1119

Related Diseases for Dystrophinopathies

Diseases related to Dystrophinopathies via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 40)
id Related Disease Score Top Affiliating Genes
1 becker muscular dystrophy 11.3
2 duchenne muscular dystrophy 11.1
3 d-minus hemolytic uremic syndrome 10.7 DMD UTRN
4 scn1b-related generalized epilepsy with febrile seizures plus 10.6 DMD UTRN
5 low compliance bladder 10.5 NOS2 TNF
6 idiopathic dilatation of the pulmonary artery 10.4 NOS2 TNF
7 multiple epiphyseal dysplasia 10.4 TNF TNFRSF1A
8 retinitis pigmentosa 75 10.4 TNF TNFRSF1A
9 amyotrophic lateral sclerosis type 10 10.3 NOS2 TNF
10 mechanical lagophthalmos 10.3 TNF TNFRSF1A
11 multiple sclerosis 5 10.3 TNF TNFRSF1A
12 chromoblastomycosis 10.3 NOS2 TNF
13 early-onset zonular cataract 10.2 NOS2 TNF
14 lung superior sulcus carcinoma 10.2 DMD NOS2 TNF
15 discitis 10.2 TNF TNFRSF1A
16 muscular dystrophy 10.1
17 peripheral nervous system disease 10.1 TNF TNFRSF1A
18 lethal congenital contractural syndrome 2 10.0 CASP8 CASP9
19 limb-girdle muscular dystrophy 10.0
20 advanced sleep phase syndrome, familial, 1 9.9 NOS2 TNF TNFRSF1A
21 acquired thrombocytopenia 9.8 NOS2 TNF
22 sarcoglycanopathies 9.8
23 chediak-higashi syndrome 9.6
24 glycerol kinase deficiency 9.6
25 dilated cardiomyopathy 9.6
26 cardiac arrest 9.6
27 myoglobinuria 9.6
28 myopathy 9.6
29 skeletal muscle regeneration 9.6
30 myotonic dystrophy 9.6
31 dysferlinopathy 9.6
32 mitochondrial disorders 9.6
33 cardiomyopathy 9.6
34 hypotonia 9.6
35 septicemic plague 9.6 CASP8 CASP9 TNF
36 spinocerebellar ataxia, autosomal recessive 21 9.6 CASP8 CASP9 TNFSF10
37 primary biliary cirrhosis 9.6 CASP8 TNF TNFRSF1A TNFSF10
38 cpt deficiency, hepatic, type ia 9.3 CASP8 CASP9 TNF
39 hypersensitivity syndrome, carbamazepine-induced 8.9 CASP2 CASP9 TNF TNFRSF1A
40 epb42-related hereditary spherocytosis 5.9 APAF1 BLVRB CASP2 CASP6 CASP8 CASP9

Graphical network of the top 20 diseases related to Dystrophinopathies:



Diseases related to Dystrophinopathies

Symptoms & Phenotypes for Dystrophinopathies

GenomeRNAi Phenotypes related to Dystrophinopathies according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.78 TNFSF10 APAF1 CASP8 CASP9 NOS2 TNF
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.78 TNFSF10 APAF1 CASP8 CASP9 NOS2 TNF
3 Increased cell death in breast cancer cell lines (MCF10A, MDA-MB-435) GR00104-A-0 9.13 CASP2 TNF TNFSF10

MGI Mouse Phenotypes related to Dystrophinopathies:

44 (show all 17)
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.22 NOS2 TNF TNFRSF1A TNFSF10 UTRN APAF1
2 cellular MP:0005384 10.21 APAF1 CASP2 CASP6 CASP8 CASP9 DMD
3 endocrine/exocrine gland MP:0005379 10.2 NOS2 TNF TNFRSF1A TNFSF10 APAF1 CASP2
4 growth/size/body region MP:0005378 10.19 APAF1 CASP6 CASP8 CASP9 DMD NOS2
5 immune system MP:0005387 10.19 APAF1 CASP2 CASP8 CASP9 DMD NOS2
6 hematopoietic system MP:0005397 10.13 CASP2 CASP8 CASP9 DMD NOS2 TNF
7 mortality/aging MP:0010768 10.13 CASP2 CASP8 CASP9 DMD NOS2 TNF
8 homeostasis/metabolism MP:0005376 10.11 CASP6 CASP8 DMD NOS2 TNF TNFRSF1A
9 nervous system MP:0003631 10.02 APAF1 CASP2 CASP6 CASP8 CASP9 DMD
10 liver/biliary system MP:0005370 10 CASP8 DMD NOS2 TNF TNFRSF1A TNFSF10
11 limbs/digits/tail MP:0005371 9.88 APAF1 DMD TNF TNFRSF1A UTRN
12 muscle MP:0005369 9.88 CASP8 DMD NOS2 TNF TNFRSF1A UTRN
13 neoplasm MP:0002006 9.85 APAF1 CASP8 NOS2 TNF TNFRSF1A TNFSF10
14 reproductive system MP:0005389 9.8 APAF1 CASP2 DMD NOS2 TNF TNFRSF1A
15 respiratory system MP:0005388 9.76 APAF1 CASP8 CASP9 DMD NOS2 TNF
16 skeleton MP:0005390 9.5 TNFRSF1A TNFSF10 UTRN APAF1 DMD NOS2
17 vision/eye MP:0005391 9.1 NOS2 TNF TNFRSF1A APAF1 CASP6 DMD

Drugs & Therapeutics for Dystrophinopathies

Drugs for Dystrophinopathies (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 arginine Nutraceutical Phase 1

Interventional clinical trials:

(show all 13)

id Name Status NCT ID Phase Drugs
1 Phase 3 Study of Ataluren in Patients With Nonsense Mutation Duchenne Muscular Dystrophy Completed NCT01826487 Phase 3 Ataluren;Placebo
2 Long-Term Outcomes of Ataluren in Duchenne Muscular Dystrophy Recruiting NCT03179631 Phase 3 Ataluren;PLACEBO
3 Phase 3 Extension Study of Ataluren (PTC124) in Patients With Nonsense Mutation Dystrophinopathy Active, not recruiting NCT02090959 Phase 3 Ataluren
4 Study of Ataluren for Previously Treated Patients With nmDBMD in Europe, Israel, Australia, and Canada Active, not recruiting NCT01557400 Phase 3 Ataluren
5 Study of Ataluren for Previously Treated Patients With nmDBMD in the US Enrolling by invitation NCT01247207 Phase 3 Ataluren
6 Study of Ataluren in ≥2 to <5 Year-Old Males With Duchenne Muscular Dystrophy Active, not recruiting NCT02819557 Phase 2 Ataluren
7 Safety, Tolerability and Effects of L-Arginine in Boys With Dystrophinopathy on Corticosteroids Completed NCT01388764 Phase 1 L-arginine
8 Intramuscular Transplantation of Muscle Derived Stem Cell and Adipose Derived Mesenchymal Stem Cells in Patients With Facioscapulohumeral Dystrophy (FSHD) Recruiting NCT02208713 Phase 1
9 Sodium Nitrate for Muscular Dystrophy Recruiting NCT02434627 Phase 1 Sodium Nitrate
10 Prospective Becker-Heart-Study Unknown status NCT02020954
11 Correlation Between Respiratory Impairment and Phonemes Alteration in Dystrophinopathy Patients With Respiratory Failure Completed NCT02411370
12 Evaluation of Muscle miRNA as Biomarkers in Dystrophinopathies Recruiting NCT02109692
13 Clinical Evaluator Outcomes Reliability Study Active, not recruiting NCT02146586

Search NIH Clinical Center for Dystrophinopathies

Genetic Tests for Dystrophinopathies

Genetic tests related to Dystrophinopathies:

id Genetic test Affiliating Genes
1 Dystrophinopathies 29 24 DMD

Anatomical Context for Dystrophinopathies

MalaCards organs/tissues related to Dystrophinopathies:

39
Heart, Testes, Skeletal Muscle, Skin, Bone

Publications for Dystrophinopathies

Articles related to Dystrophinopathies:

(show top 50) (show all 101)
id Title Authors Year
1
Neurohormonal modulation for treatment of cardiac involvement in dystrophinopathies and mitochondrial disease. ( 28914548 )
2017
2
Neurohumoral treatment for cardiac disease in dystrophinopathies and mitochondrial disorders. ( 28914564 )
2017
3
Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan. ( 28859693 )
2017
4
Neurohormonal modulation for treatment of cardiac involvement in dystrophinopathies and mitochondrial disease. ( 28805065 )
2017
5
Dystrophinopathies and Limb-Girdle Muscular Dystrophies. ( 28427100 )
2017
6
Genetic profile of Brazilian patients with dystrophinopathies. ( 28116794 )
2017
7
Feasibility and tolerability of low-intensity whole body vibration and its effects on muscle function and bone in patients with dystrophinopathies: A pilot study. ( 27718512 )
2016
8
Implementation of a Reliable Next-Generation Sequencing Strategy for Molecular Diagnosis of Dystrophinopathies. ( 27425820 )
2016
9
Destination therapy with ventricular assist devices for patients with dystrophinopathies: A new way of life. ( 27993367 )
2016
10
MLPA analysis of an Argentine cohort of patients with dystrophinopathy: Association of intron breakpoints hot spots with STR abundance in DMD gene. ( 27206868 )
2016
11
Functional changes in Becker muscular dystrophy: implications for clinical trials in dystrophinopathies. ( 27582364 )
2016
12
The Limb-Girdle Muscular Dystrophies and the Dystrophinopathies. ( 27922502 )
2016
13
Reassessing carrier status for dystrophinopathies. ( 27761523 )
2016
14
Somatic mosaicism due to a reversion variant causing hemi-atrophy: a novel variant of dystrophinopathy. ( 26956251 )
2016
15
Left ventricular assist device as destination therapy in cardiac end-stage dystrophinopathies: Midterm results. ( 27692952 )
2016
16
The trefoil with single fruit sign in muscle magnetic resonance imaging is highly specific for dystrophinopathies. ( 26119801 )
2015
17
Cardiopulmonary Exercise Testing in Children and Adolescents With Dystrophinopathies: A Pilot Study. ( 26102164 )
2015
18
Current concepts in dystrophinopathies. ( 25416089 )
2015
19
Dystrophinopathies. ( 26502761 )
2015
20
DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations. ( 26284620 )
2015
21
Commentary on "Cardiopulmonary Exercise Testing in Children and Adolescents With Dystrophinopathies: A Pilot Study". ( 26102165 )
2015
22
Early myocardial damage assessment in dystrophinopathies using (99)Tc(m)-MIBI gated myocardial perfusion imaging. ( 26677332 )
2015
23
DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy. ( 25972034 )
2015
24
Mass Spectrometry-Based Identification of Muscle-Associated and Muscle-Derived Proteomic Biomarkers of Dystrophinopathies. ( 27858666 )
2014
25
Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice. ( 25108525 )
2014
26
Bmi1 enhances skeletal muscle regeneration through MT1-mediated oxidative stress protection in a mouse model of dystrophinopathy. ( 25452464 )
2014
27
Current treatment and management of dystrophinopathies. ( 24619767 )
2014
28
The medical genetics of dystrophinopathies: molecular genetic diagnosis and its impact on clinical practice. ( 23116935 )
2013
29
Proteomics of the dystrophin-glycoprotein complex and dystrophinopathy. ( 24106963 )
2013
30
Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age. ( 23299919 )
2013
31
Motor unit potentials with satellites in dystrophinopathies. ( 23369874 )
2013
32
Molecular diagnosis of dystrophinopathies using a multi-technique analysis algorithm. ( 23695957 )
2013
33
Pre-clinical drug tests in the mdx mouse as a model of dystrophinopathies: an overview. ( 22655516 )
2012
34
Assessment of cardiac function in three mouse dystrophinopathies by magnetic resonance imaging. ( 22209498 )
2012
35
Pure intronic rearrangements leading to aberrant pseudoexon inclusion in dystrophinopathy: a new class of mutations? ( 21305657 )
2011
36
Dystrophinopathies. ( 21496622 )
2011
37
Symptomatic dystrophinopathies in female children. ( 21186124 )
2011
38
Dystrophinopathy in girls with limb girdle muscular dystrophy phenotype. ( 20516809 )
2010
39
Exercise-induced left ventricular systolic dysfunction in women heterozygous for dystrophinopathy. ( 20646909 )
2010
40
Diagnostic utility of skin biopsy in dystrophinopathies. ( 19251360 )
2009
41
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. ( 19937601 )
2009
42
Association of autistic spectrum disorders with dystrophinopathies. ( 19818935 )
2009
43
Characterization of deletion breakpoints in patients with dystrophinopathy carrying a deletion of exons 45-55 of the Duchenne muscular dystrophy (DMD) gene. ( 19158820 )
2009
44
Muscle pain as the only presenting symptom in a girl with dystrophinopathy. ( 18054699 )
2008
45
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies. ( 19040728 )
2008
46
Cardiac involvement in the dystrophinopathies. ( 21791770 )
2008
47
Changes in skeletal muscle expression of AQP1 and AQP4 in dystrophinopathy and dysferlinopathy patients. ( 18392839 )
2008
48
Dystrophinopathy carrier determination and detection of protein deficiencies in muscular dystrophy using lentiviral MyoD-forced myogenesis. ( 17303423 )
2007
49
Characterization of initiator and effector caspase expressions in dystrophinopathies. ( 16521476 )
2006
50
Evolving therapeutic strategies for dystrophinopathies: potential for conflict between cardiac and skeletal needs. ( 16267247 )
2005

Variations for Dystrophinopathies

Expression for Dystrophinopathies

Search GEO for disease gene expression data for Dystrophinopathies.

Pathways for Dystrophinopathies

Pathways related to Dystrophinopathies according to GeneCards Suite gene sharing:

(show all 49)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.75 APAF1 CASP6 CASP8 CASP9 NOS2 TNF
2
Show member pathways
13.75 APAF1 CASP2 CASP6 CASP8 CASP9 TNF
3
Show member pathways
13.55 CASP2 CASP6 CASP8 CASP9 NOS2 TNF
4
Show member pathways
13.21 CASP2 CASP6 CASP8 CASP9 TNF TNFRSF1A
5
Show member pathways
12.8 APAF1 CASP6 CASP8 CASP9 DMD TNF
6
Show member pathways
12.78 CASP8 NOS2 TNF TNFRSF1A
7
Show member pathways
12.78 APAF1 CASP2 CASP6 CASP8 CASP9 TNF
8
Show member pathways
12.73 CASP8 CASP9 TNF TNFRSF1A TNFSF10
9
Show member pathways
12.71 APAF1 CASP2 CASP6 CASP8 CASP9 TNF
10
Show member pathways
12.71 APAF1 CASP2 CASP6 CASP8 CASP9 TNF
11
Show member pathways
12.68 APAF1 CASP8 CASP9 TNFSF10
12 12.66 CASP2 CASP6 CASP8 CASP9 TNF TNFRSF1A
13
Show member pathways
12.53 CASP2 CASP6 CASP8 CASP9 TNF TNFRSF1A
14
Show member pathways
12.46 CASP2 CASP6 CASP8 CASP9
15
Show member pathways
12.28 CASP8 TNF TNFRSF1A TNFSF10
16
Show member pathways
12.22 CASP2 CASP6 CASP8 CASP9 TNFSF10
17
Show member pathways
12.21 CASP8 CASP9 NOS2 TNF TNFRSF1A
18
Show member pathways
12.19 CASP8 CASP9 TNFSF10
19 12.16 APAF1 CASP8 CASP9 NOS2 TNF TNFRSF1A
20 12.15 CASP9 NOS2 TNF TNFRSF1A
21 12.06 CASP2 CASP6 CASP8 CASP9
22
Show member pathways
12.06 APAF1 CASP2 CASP6 CASP8 CASP9 TNF
23
Show member pathways
11.96 APAF1 CASP8 CASP9
24
Show member pathways
11.95 APAF1 CASP9 TNF TNFRSF1A
25
Show member pathways
11.94 CASP2 CASP6 CASP8 CASP9 TNF TNFRSF1A
26
Show member pathways
11.93 CASP2 CASP8 CASP9
27 11.9 CASP8 TNF TNFRSF1A
28
Show member pathways
11.89 APAF1 CASP2 CASP6
29 11.89 CASP2 CASP6 CASP8 CASP9
30 11.8 APAF1 CASP2 CASP6 CASP9
31 11.78 APAF1 CASP9 NOS2
32
Show member pathways
11.77 CASP6 CASP8 CASP9
33
Show member pathways
11.77 TNF TNFRSF1A TNFSF10
34 11.76 APAF1 CASP2 CASP6 CASP8 CASP9 TNFRSF1A
35 11.71 APAF1 CASP8 CASP9
36 11.65 CASP8 CASP9 NOS2
37
Show member pathways
11.65 APAF1 CASP6 CASP9
38
Show member pathways
11.63 NOS2 TNF TNFRSF1A
39 11.57 APAF1 CASP8 CASP9 TNF
40
Show member pathways
11.56 APAF1 CASP2 CASP6 CASP8 CASP9 TNFRSF1A
41 11.52 TNF TNFRSF1A TNFSF10
42
Show member pathways
11.49 APAF1 CASP6 CASP8 CASP9
43 11.45 CASP8 TNF TNFRSF1A
44
Show member pathways
11.42 APAF1 CASP8 CASP9 TNFRSF1A
45 11.42 APAF1 CASP8 CASP9 TNFSF10
46 11.4 CASP6 CASP8 CASP9
47
Show member pathways
11.32 APAF1 CASP2 CASP6 CASP8 CASP9 TNF
48 11.21 TNF TNFRSF1A
49 11.06 TNF TNFRSF1A

GO Terms for Dystrophinopathies

Cellular components related to Dystrophinopathies according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 protein complex GO:0043234 9.33 CASP8 DMD UTRN
2 filopodium membrane GO:0031527 9.32 DMD UTRN
3 dystrophin-associated glycoprotein complex GO:0016010 9.26 DMD UTRN
4 membrane raft GO:0045121 9.26 CASP8 DMD TNF TNFRSF1A
5 apoptosome GO:0043293 8.62 APAF1 CASP9

Biological processes related to Dystrophinopathies according to GeneCards Suite gene sharing:

(show all 26)
id Name GO ID Score Top Affiliating Genes
1 apoptotic process GO:0006915 9.91 APAF1 CASP2 CASP6 CASP8 CASP9 TNFRSF1A
2 positive regulation of apoptotic process GO:0043065 9.85 APAF1 CASP2 CASP9 TNF TNFSF10
3 response to lipopolysaccharide GO:0032496 9.81 CASP8 CASP9 NOS2 TNFRSF1A
4 aging GO:0007568 9.8 APAF1 CASP2 CASP9 DMD
5 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.78 CASP8 TNF TNFRSF1A TNFSF10
6 cellular response to mechanical stimulus GO:0071260 9.74 CASP2 CASP8 TNFRSF1A
7 cellular response to organic cyclic compound GO:0071407 9.73 CASP8 CASP9 TNF
8 apoptotic signaling pathway GO:0097190 9.71 APAF1 CASP2 CASP8 TNF
9 response to antibiotic GO:0046677 9.63 CASP8 CASP9
10 extrinsic apoptotic signaling pathway in absence of ligand GO:0097192 9.62 CASP2 CASP9
11 extrinsic apoptotic signaling pathway via death domain receptors GO:0008625 9.62 TNF TNFRSF1A
12 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.62 CASP2 CASP9 TNF TNFRSF1A
13 positive regulation of apoptotic signaling pathway GO:2001235 9.61 APAF1 CASP2
14 regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902041 9.61 CASP8 TNFSF10
15 regulation of tumor necrosis factor-mediated signaling pathway GO:0010803 9.61 CASP8 TNF TNFRSF1A
16 activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway GO:0097296 9.6 CASP8 TNFSF10
17 response to denervation involved in regulation of muscle adaptation GO:0014894 9.59 DMD UTRN
18 positive regulation of ceramide biosynthetic process GO:2000304 9.58 TNF TNFRSF1A
19 activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c GO:0008635 9.58 APAF1 CASP9
20 regulation of establishment of endothelial barrier GO:1903140 9.55 TNF TNFRSF1A
21 response to cobalt ion GO:0032025 9.54 CASP8 CASP9
22 glial cell apoptotic process GO:0034349 9.52 APAF1 CASP9
23 execution phase of apoptosis GO:0097194 9.46 CASP2 CASP6 CASP8 CASP9
24 death-inducing signaling complex assembly GO:0071550 9.43 CASP8 TNF TNFRSF1A
25 regulation of apoptotic process GO:0042981 9.43 APAF1 CASP2 CASP6 CASP8 CASP9 TNFRSF1A
26 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.1 APAF1 CASP2 CASP8 CASP9 TNF TNFSF10

Molecular functions related to Dystrophinopathies according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 peptidase activity GO:0008233 9.73 CASP2 CASP6 CASP8 CASP9
2 cysteine-type peptidase activity GO:0008234 9.62 CASP2 CASP6 CASP8 CASP9
3 identical protein binding GO:0042802 9.55 APAF1 CASP2 CASP6 CASP8 TNF
4 tumor necrosis factor receptor binding GO:0005164 9.43 CASP8 TNF TNFSF10
5 vinculin binding GO:0017166 9.4 DMD UTRN
6 cysteine-type endopeptidase activity involved in apoptotic process GO:0097153 9.37 CASP2 CASP8
7 cysteine-type endopeptidase activity GO:0004197 9.26 CASP2 CASP6 CASP8 CASP9
8 cysteine-type endopeptidase activity involved in execution phase of apoptosis GO:0097200 8.92 CASP2 CASP6 CASP8 CASP9

Sources for Dystrophinopathies

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....