MCID: DYS032
MIFTS: 43

Dystrophinopathies

Categories: Rare diseases

Aliases & Classifications for Dystrophinopathies

MalaCards integrated aliases for Dystrophinopathies:

Name: Dystrophinopathies 23 36 28
Dystrophinopathy 49

Characteristics:

GeneReviews:

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

Classifications:



External Ids:

KEGG 36 H00562

Summaries for Dystrophinopathies

MalaCards based summary : Dystrophinopathies, also known as dystrophinopathy, is related to muscular dystrophy, becker type and muscular dystrophy, duchenne type. An important gene associated with Dystrophinopathies is DMD (Dystrophin), and among its related pathways/superpathways are Apoptotic Pathways in Synovial Fibroblasts and ERK Signaling. 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 Synthetic lethal with MLN4924 (a NAE inhibitor)

GeneReviews: NBK1119

Related Diseases for Dystrophinopathies

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

(show all 41)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, becker type 32.9 DMD UTRN
2 muscular dystrophy, duchenne type 11.3
3 cytoplasmic body myopathy 10.4 DMD UTRN
4 muscular dystrophy 10.3
5 tympanosclerosis 10.3 NOS2 TNF
6 chronic gonococcal salpingitis 10.2 TNF TNFRSF1A
7 idiopathic achalasia 10.2 NOS2 TNF
8 retinitis pigmentosa 75 10.2 TNF TNFRSF1A
9 paratyphoid fever 10.2 TNF TNFRSF1A
10 crohn's colitis 10.2 NOS2 TNF
11 relapsing fever 10.2 TNF TNFRSF1A
12 periodic fever, familial, autosomal dominant 10.1 TNF TNFRSF1A
13 arthus reaction 10.1 NOS2 TNF
14 myocarditis 10.1 DMD NOS2 TNF
15 acute salpingitis 10.1 TNF TNFRSF1A
16 limb-girdle muscular dystrophy 10.0
17 eales disease 10.0 NOS2 TNF
18 osteogenic sarcoma 10.0 APAF1 TNF TNFSF10
19 chronic mountain sickness 9.9 CASP8 CASP9
20 metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 9.9
21 mitochondrial metabolism disease 9.9
22 chronic salpingitis 9.8 TNF TNFRSF1A
23 chediak-higashi syndrome 9.7
24 myoglobinuria, acute recurrent, autosomal recessive 9.7
25 cardiomyopathy, dilated, 3b 9.7
26 glycerol kinase deficiency 9.7
27 aging 9.7
28 muscular dystrophy, congenital, lmna-related 9.7
29 episodic pain syndrome, familial, 1 9.7
30 dilated cardiomyopathy 9.7
31 cardiac arrest 9.7
32 myoglobinuria 9.7
33 hypogonadotropic hypogonadism 9.7
34 myopathy 9.7
35 myotonic dystrophy 9.7
36 dysferlinopathy 9.7
37 mitochondrial disorders 9.7
38 hypotonia 9.7
39 breast adenocarcinoma 9.7 CASP8 CASP9 TNF
40 post-transplant lymphoproliferative disease 9.6 CASP8 TNF TNFRSF1A TNFSF10
41 alzheimer disease 8.8 APAF1 CASP2 CASP8 CASP9 TNF TNFRSF1A

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:

25
# 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 TNFRSF1A TNFSF10 APAF1 CASP6 CASP8 CASP9
3 Increased cell death in breast cancer cell lines (MCF10A, MDA-MB-435) GR00104-A-0 9.13 TNFSF10 CASP2 TNF

MGI Mouse Phenotypes related to Dystrophinopathies:

43 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.22 NOS2 TNFRSF1A TNF CASP8 APAF1 CASP9
2 cellular MP:0005384 10.21 TNF NOS2 TNFRSF1A DMD CASP8 APAF1
3 endocrine/exocrine gland MP:0005379 10.2 NOS2 TNFRSF1A TNF CASP8 APAF1 CASP9
4 growth/size/body region MP:0005378 10.19 TNF NOS2 TNFRSF1A DMD CASP8 APAF1
5 immune system MP:0005387 10.19 NOS2 TNFRSF1A TNF CASP8 APAF1 CASP9
6 homeostasis/metabolism MP:0005376 10.16 DMD TNF NOS2 TNFRSF1A CASP8 BLVRB
7 hematopoietic system MP:0005397 10.13 DMD TNF NOS2 TNFRSF1A CASP8 CASP9
8 mortality/aging MP:0010768 10.13 TNF NOS2 TNFRSF1A DMD CASP8 APAF1
9 nervous system MP:0003631 10.02 NOS2 TNFRSF1A TNF CASP8 APAF1 CASP9
10 liver/biliary system MP:0005370 10 NOS2 TNFRSF1A TNF CASP8 DMD TNFSF10
11 limbs/digits/tail MP:0005371 9.88 DMD TNF APAF1 UTRN TNFRSF1A
12 muscle MP:0005369 9.88 DMD TNF NOS2 TNFRSF1A CASP8 UTRN
13 neoplasm MP:0002006 9.85 NOS2 TNFRSF1A TNF CASP8 APAF1 TNFSF10
14 reproductive system MP:0005389 9.8 TNF NOS2 TNFRSF1A DMD APAF1 CASP2
15 respiratory system MP:0005388 9.76 NOS2 TNFRSF1A TNF CASP8 APAF1 CASP9
16 skeleton MP:0005390 9.5 TNF NOS2 TNFRSF1A DMD APAF1 TNFSF10
17 vision/eye MP:0005391 9.1 DMD TNF NOS2 APAF1 CASP6 TNFRSF1A

Drugs & Therapeutics for Dystrophinopathies

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


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

Interventional clinical trials:

(show all 13)

# 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 Clinical Evaluator Outcomes Reliability Study Unknown status NCT02146586
11 Prospective Becker-Heart-Study Unknown status NCT02020954
12 Correlation Between Respiratory Impairment and Phonemes Alteration in Dystrophinopathy Patients With Respiratory Failure Completed NCT02411370
13 Evaluation of Muscle miRNA as Biomarkers in Dystrophinopathies Recruiting NCT02109692

Search NIH Clinical Center for Dystrophinopathies

Genetic Tests for Dystrophinopathies

Genetic tests related to Dystrophinopathies:

# Genetic test Affiliating Genes
1 Dystrophinopathies 28

Anatomical Context for Dystrophinopathies

MalaCards organs/tissues related to Dystrophinopathies:

38
Heart, Testes, Skeletal Muscle, Skin, Bone

Publications for Dystrophinopathies

Articles related to Dystrophinopathies:

(show top 50) (show all 103)
# Title Authors Year
1
Cardiac Involvement in Duchenne Muscular Dystrophy and Related Dystrophinopathies. ( 29067654 )
2018
2
Clinical profiles and prognosis of acute heart failure in adult patients with dystrophinopathies on home mechanical ventilation. ( 29154419 )
2017
3
Neurohumoral treatment for cardiac disease in dystrophinopathies and mitochondrial disorders. ( 28914564 )
2017
4
Dystrophinopathies and Limb-Girdle Muscular Dystrophies. ( 28427100 )
2017
5
Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan. ( 28859693 )
2017
6
Genetic profile of Brazilian patients with dystrophinopathies. ( 28116794 )
2017
7
Neurohormonal modulation for treatment of cardiac involvement in dystrophinopathies and mitochondrial disease. ( 28805065 )
2017
8
Neurohormonal modulation for treatment of cardiac involvement in dystrophinopathies and mitochondrial disease. ( 28914548 )
2017
9
Implementation of a Reliable Next-Generation Sequencing Strategy for Molecular Diagnosis of Dystrophinopathies. ( 27425820 )
2016
10
Functional changes in Becker muscular dystrophy: implications for clinical trials in dystrophinopathies. ( 27582364 )
2016
11
The Limb-Girdle Muscular Dystrophies and the Dystrophinopathies. ( 27922502 )
2016
12
Reassessing carrier status for dystrophinopathies. ( 27761523 )
2016
13
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
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
MLPA analysis of an Argentine cohort of patients with dystrophinopathy: Association of intron breakpoints hot spots with STR abundance in DMD gene. ( 27206868 )
2016
17
Destination therapy with ventricular assist devices for patients with dystrophinopathies: A new way of life. ( 27993367 )
2016
18
The trefoil with single fruit sign in muscle magnetic resonance imaging is highly specific for dystrophinopathies. ( 26119801 )
2015
19
Early myocardial damage assessment in dystrophinopathies using (99)Tc(m)-MIBI gated myocardial perfusion imaging. ( 26677332 )
2015
20
Current concepts in dystrophinopathies. ( 25416089 )
2015
21
DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy. ( 25972034 )
2015
22
Cardiopulmonary Exercise Testing in Children and Adolescents With Dystrophinopathies: A Pilot Study. ( 26102164 )
2015
23
Dystrophinopathies. ( 26502761 )
2015
24
DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations. ( 26284620 )
2015
25
Commentary on "Cardiopulmonary Exercise Testing in Children and Adolescents With Dystrophinopathies: A Pilot Study". ( 26102165 )
2015
26
Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice. ( 25108525 )
2014
27
Current treatment and management of dystrophinopathies. ( 24619767 )
2014
28
Mass Spectrometry-Based Identification of Muscle-Associated and Muscle-Derived Proteomic Biomarkers of Dystrophinopathies. ( 27858666 )
2014
29
Bmi1 enhances skeletal muscle regeneration through MT1-mediated oxidative stress protection in a mouse model of dystrophinopathy. ( 25452464 )
2014
30
The medical genetics of dystrophinopathies: molecular genetic diagnosis and its impact on clinical practice. ( 23116935 )
2013
31
Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age. ( 23299919 )
2013
32
Proteomics of the dystrophin-glycoprotein complex and dystrophinopathy. ( 24106963 )
2013
33
Motor unit potentials with satellites in dystrophinopathies. ( 23369874 )
2013
34
Molecular diagnosis of dystrophinopathies using a multi-technique analysis algorithm. ( 23695957 )
2013
35
Assessment of cardiac function in three mouse dystrophinopathies by magnetic resonance imaging. ( 22209498 )
2012
36
Pre-clinical drug tests in the mdx mouse as a model of dystrophinopathies: an overview. ( 22655516 )
2012
37
Pure intronic rearrangements leading to aberrant pseudoexon inclusion in dystrophinopathy: a new class of mutations? ( 21305657 )
2011
38
Dystrophinopathies. ( 21496622 )
2011
39
Symptomatic dystrophinopathies in female children. ( 21186124 )
2011
40
Dystrophinopathy in girls with limb girdle muscular dystrophy phenotype. ( 20516809 )
2010
41
Exercise-induced left ventricular systolic dysfunction in women heterozygous for dystrophinopathy. ( 20646909 )
2010
42
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. ( 19937601 )
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
Diagnostic utility of skin biopsy in dystrophinopathies. ( 19251360 )
2009
45
Association of autistic spectrum disorders with dystrophinopathies. ( 19818935 )
2009
46
Muscle pain as the only presenting symptom in a girl with dystrophinopathy. ( 18054699 )
2008
47
Changes in skeletal muscle expression of AQP1 and AQP4 in dystrophinopathy and dysferlinopathy patients. ( 18392839 )
2008
48
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies. ( 19040728 )
2008
49
Cardiac involvement in the dystrophinopathies. ( 21791770 )
2008
50
Dystrophinopathy carrier determination and detection of protein deficiencies in muscular dystrophy using lentiviral MyoD-forced myogenesis. ( 17303423 )
2007

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 top 50) (show all 54)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.77 APAF1 CASP2 CASP6 CASP8 CASP9 TNF
2
Show member pathways
13.73 APAF1 CASP6 CASP8 CASP9 NOS2 TNF
3
Show member pathways
13.57 CASP2 CASP6 CASP8 CASP9 NOS2 TNF
4
Show member pathways
13.22 CASP2 CASP6 CASP8 CASP9 TNF TNFRSF1A
5
Show member pathways
12.81 APAF1 CASP6 CASP8 CASP9 DMD TNF
6
Show member pathways
12.8 APAF1 CASP2 CASP6 CASP8 CASP9 TNF
7
Show member pathways
12.75 APAF1 CASP2 CASP6 CASP8 CASP9 TNF
8 12.74 APAF1 CASP8 CASP9 NOS2
9
Show member pathways
12.74 CASP8 CASP9 TNF TNFRSF1A TNFSF10
10
Show member pathways
12.74 APAF1 CASP2 CASP6 CASP8 CASP9 TNF
11 12.72 CASP2 CASP6 CASP8 CASP9 TNF TNFRSF1A
12
Show member pathways
12.59 APAF1 CASP8 CASP9 TNFSF10
13
Show member pathways
12.55 CASP2 CASP6 CASP8 CASP9 TNF TNFRSF1A
14
Show member pathways
12.52 APAF1 CASP8 CASP9 TNF TNFRSF1A
15
Show member pathways
12.48 CASP8 NOS2 TNF TNFRSF1A
16
Show member pathways
12.46 CASP2 CASP6 CASP8 CASP9
17
Show member pathways
12.29 CASP8 TNF TNFRSF1A TNFSF10
18
Show member pathways
12.23 CASP2 CASP6 CASP8 CASP9 TNFSF10
19
Show member pathways
12.22 CASP8 CASP9 NOS2 TNF TNFRSF1A
20
Show member pathways
12.2 CASP8 CASP9 TNFSF10
21
Show member pathways
12.19 CASP8 TNF TNFRSF1A TNFSF10
22 12.19 APAF1 CASP8 CASP9 NOS2 TNF TNFRSF1A
23 12.16 CASP9 NOS2 TNF TNFRSF1A
24
Show member pathways
12.13 APAF1 CASP2 CASP6 CASP8 CASP9 TNF
25 12.07 CASP2 CASP6 CASP8 CASP9
26
Show member pathways
12.02 APAF1 CASP2 CASP6 CASP8 CASP9 DMD
27
Show member pathways
11.97 APAF1 CASP8 CASP9
28
Show member pathways
11.97 CASP2 CASP6 CASP8 CASP9 TNF TNFRSF1A
29
Show member pathways
11.96 APAF1 CASP9 TNF TNFRSF1A
30
Show member pathways
11.94 CASP2 CASP8 CASP9
31 11.9 CASP8 TNF TNFRSF1A
32 11.9 CASP2 CASP6 CASP8 CASP9
33
Show member pathways
11.89 APAF1 CASP2 CASP6
34
Show member pathways
11.85 APAF1 CASP2 CASP6 CASP8 CASP9 TNF
35 11.83 APAF1 CASP9 NOS2
36 11.81 APAF1 CASP2 CASP6 CASP9
37
Show member pathways
11.78 CASP6 CASP8 CASP9
38
Show member pathways
11.77 TNF TNFRSF1A TNFSF10
39 11.72 APAF1 CASP8 CASP9
40 11.67 CASP8 CASP9 NOS2
41
Show member pathways
11.67 APAF1 CASP6 CASP9
42
Show member pathways
11.66 APAF1 CASP2 CASP6 CASP8 CASP9 TNFRSF1A
43
Show member pathways
11.64 NOS2 TNF TNFRSF1A
44 11.58 APAF1 CASP8 CASP9 TNF
45 11.53 TNF TNFRSF1A TNFSF10
46
Show member pathways
11.51 APAF1 CASP6 CASP8 CASP9
47 11.49 APAF1 CASP2 CASP6 CASP8 CASP9 TNF
48 11.47 CASP8 TNF TNFRSF1A
49 11.43 APAF1 CASP8 CASP9 TNFSF10
50
Show member pathways
11.42 APAF1 CASP8 CASP9 TNFRSF1A

GO Terms for Dystrophinopathies

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

# Name GO ID Score Top Affiliating Genes
1 protein complex GO:0043234 9.55 APAF1 CASP8 CASP9 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)
# Name GO ID Score Top Affiliating Genes
1 apoptotic process GO:0006915 9.91 APAF1 CASP2 CASP6 CASP8 CASP9 TNFRSF1A
2 response to lipopolysaccharide GO:0032496 9.83 CASP8 CASP9 NOS2 TNFRSF1A
3 positive regulation of apoptotic process GO:0043065 9.83 APAF1 CASP2 CASP9 TNF TNFSF10
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 regulation of tumor necrosis factor-mediated signaling pathway GO:0010803 9.63 CASP8 TNF TNFRSF1A
11 regulation of apoptotic process GO:0042981 9.63 APAF1 CASP2 CASP6 CASP8 CASP9 TNFRSF1A
12 extrinsic apoptotic signaling pathway in absence of ligand GO:0097192 9.62 CASP2 CASP9
13 extrinsic apoptotic signaling pathway via death domain receptors GO:0008625 9.62 TNF TNFRSF1A
14 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.62 CASP2 CASP9 TNF TNFRSF1A
15 positive regulation of apoptotic signaling pathway GO:2001235 9.61 APAF1 CASP2
16 regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902041 9.61 CASP8 TNFSF10
17 activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway GO:0097296 9.6 CASP8 TNFSF10
18 response to denervation involved in regulation of muscle adaptation GO:0014894 9.59 DMD UTRN
19 positive regulation of ceramide biosynthetic process GO:2000304 9.58 TNF TNFRSF1A
20 activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c GO:0008635 9.58 APAF1 CASP9
21 regulation of establishment of endothelial barrier GO:1903140 9.55 TNF TNFRSF1A
22 response to cobalt ion GO:0032025 9.54 CASP8 CASP9
23 glial cell apoptotic process GO:0034349 9.51 APAF1 CASP9
24 death-inducing signaling complex assembly GO:0071550 9.43 CASP8 TNF TNFRSF1A
25 execution phase of apoptosis GO:0097194 9.26 CASP2 CASP6 CASP8 CASP9
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:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.8 APAF1 CASP2 CASP6 CASP8 TNF TNFSF10
2 peptidase activity GO:0008233 9.73 CASP2 CASP6 CASP8 CASP9
3 cysteine-type peptidase activity GO:0008234 9.56 CASP2 CASP6 CASP8 CASP9
4 vinculin binding GO:0017166 9.4 DMD UTRN
5 cysteine-type endopeptidase activity involved in apoptotic process GO:0097153 9.37 CASP2 CASP8
6 tumor necrosis factor receptor binding GO:0005164 9.33 CASP8 TNF TNFSF10
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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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