Aliases & Classifications for Dysferlinopathy

MalaCards integrated aliases for Dysferlinopathy:

Name: Dysferlinopathy 24 53 29 6 73
Dysferlinopathies 37

Classifications:



External Ids:

KEGG 37 H00566
UMLS 73 C2931687

Summaries for Dysferlinopathy

NIH Rare Diseases : 53 Dysferlinopathies are muscular dystrophies caused by mutations in the dysferlin gene. Examples of dysferlinopathies include limb-girdle muscular dystrophy type 2B, Miyoshi myopathy, and distal anterior compartment myopathy.

MalaCards based summary : Dysferlinopathy, also known as dysferlinopathies, is related to muscular dystrophy, limb-girdle, type 2b and muscular dystrophy. An important gene associated with Dysferlinopathy is DYSF (Dysferlin), and among its related pathways/superpathways are Aquaporin-mediated transport and Bile secretion. The drugs Deflazacort and Immunosuppressive Agents have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, monocytes and liver.

Wikipedia : 76 Limb-girdle muscular dystrophy (LGMD) or Erb\'s muscular dystrophy is a genetically and clinically... more...

GeneReviews: NBK1303

Related Diseases for Dysferlinopathy

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

(show all 40)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, limb-girdle, type 2b 30.1 CAPN3 DYSF MYOF
2 muscular dystrophy 28.9 CAPN3 DYSF MYOF TOR1AIP1
3 autosomal recessive limb-girdle muscular dystrophy type 2f 10.6 CAPN3 DYSF
4 autosomal recessive limb-girdle muscular dystrophy type 2h 10.6 CAPN3 DYSF
5 muscular dystrophy, limb-girdle, type 2c 10.6 CAPN3 DYSF
6 muscular dystrophy, limb-girdle, type 2h 10.6 CAPN3 DYSF
7 muscular dystrophy, limb-girdle, type 2d 10.6 CAPN3 DYSF
8 muscular dystrophy, limb-girdle, type 2g 10.5 CAPN3 DYSF
9 muscular dystrophy, limb-girdle, type 2f 10.5 CAPN3 DYSF
10 muscular dystrophy-dystroglycanopathy , type c, 5 10.5 CAPN3 DYSF
11 inappropriate adh syndrome 10.5 AQP1 AQP4
12 central pontine myelinolysis 10.4 AQP1 AQP4
13 distal muscular dystrophy 10.4 CAPN3 DYSF
14 intracranial hypertension, idiopathic 10.4 AQP1 AQP4
15 subependymoma 10.4 AQP1 AQP4
16 deafness, autosomal recessive 9 10.3 MYOF OTOF
17 autosomal recessive limb-girdle muscular dystrophy 10.3 CAPN3 DYSF
18 acute hemorrhagic leukoencephalitis 10.3 AQP1 AQP4
19 neuromyelitis optica 10.2 AQP1 AQP4
20 myopathy 10.1
21 intracranial hypertension 10.1 AQP1 AQP4
22 hydrops, lactic acidosis, and sideroblastic anemia 10.1 AQP4 MIP
23 autosomal recessive limb-girdle muscular dystrophy type 2b 10.1 CAPN3 DYSF MYOF
24 bethlem myopathy 1 10.1 CAPN3 DYSF
25 limb-girdle muscular dystrophy 10.0
26 miyoshi muscular dystrophy 1 9.9
27 polymyositis 9.9
28 meniere disease 9.9 AQP1 AQP4 MIP
29 diabetes insipidus, nephrogenic, autosomal 9.9 AQP1 AQP4 MIP
30 brain edema 9.9 AQP1 AQP4 MIP
31 muscle tissue disease 9.8 CAPN3 DYSF
32 rigid spine muscular dystrophy 1 9.8
33 pulmonary disease, chronic obstructive 9.8
34 muscle hypertrophy 9.8
35 ichthyosis lamellar 1 9.8
36 autosomal recessive congenital ichthyosis 9.8
37 ichthyosis 9.8
38 dystrophinopathies 9.8
39 idiopathic inflammatory myopathy 9.8
40 muscular dystrophy, limb-girdle, type 2a 9.6 CAPN3 TOR1AIP1

Graphical network of the top 20 diseases related to Dysferlinopathy:



Diseases related to Dysferlinopathy

Symptoms & Phenotypes for Dysferlinopathy

Drugs & Therapeutics for Dysferlinopathy

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Deflazacort Approved, Investigational Phase 2, Phase 3 14484-47-0
2 Immunosuppressive Agents Phase 2, Phase 3
3 Anti-Inflammatory Agents Phase 2, Phase 3
4
Bortezomib Approved, Investigational Phase 1 179324-69-7 387447 93860
5 Vaccines Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Deflazacort in Dysferlinopathies Completed NCT00527228 Phase 2, Phase 3 deflazacort;placebo
2 rAAVrh74.MHCK7.DYSF.DV for Treatment of Dysferlinopathies Active, not recruiting NCT02710500 Phase 1 rAAVrh74.MHCK7.DYSF.DV
3 Proteasomal Inhibition for Patients With Mis-sense Mutated Dysferlin Terminated NCT01863004 Phase 1 Bortezomib
4 Clinical Outcome Study for Dysferlinopathy Active, not recruiting NCT01676077

Search NIH Clinical Center for Dysferlinopathy

Genetic Tests for Dysferlinopathy

Genetic tests related to Dysferlinopathy:

# Genetic test Affiliating Genes
1 Dysferlinopathy 29

Anatomical Context for Dysferlinopathy

MalaCards organs/tissues related to Dysferlinopathy:

41
Skeletal Muscle, Monocytes, Liver

Publications for Dysferlinopathy

Articles related to Dysferlinopathy:

(show top 50) (show all 108)
# Title Authors Year
1
Serum exosomes can restore cellular function <i>in vitro</i> and be used for diagnosis in dysferlinopathy. ( 29507617 )
2018
2
Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study. ( 29378789 )
2018
3
Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials. ( 29735511 )
2018
4
Dysferlinopathy Promotes an Intramuscle Expansion of Macrophages with a Cyto-Destructive Phenotype. ( 28412297 )
2017
5
Limb-Girdle Muscular Dystrophy 2B and Miyoshi Presentations of Dysferlinopathy. ( 28502335 )
2017
6
Systemic Delivery of Dysferlin Overlap Vectors Provides Long-Term Gene Expression and Functional Improvement for Dysferlinopathy. ( 28707952 )
2017
7
Detection of Dysferlin Gene Pathogenic Variants in the Indian Population in Patients Predicted to have a Dysferlinopathy Using a Blood-based Monocyte Assay and Clinical Algorithm: A Model for Accurate and Cost-effective Diagnosis. ( 28904466 )
2017
8
Thrombospondin-1 and disease progression in dysferlinopathy. ( 29206970 )
2017
9
Serum Cytokine Profile in a Patient Diagnosed with Dysferlinopathy. ( 28487742 )
2017
10
Twenty-Year Clinical Progression of Dysferlinopathy in Patients from Dagestan. ( 28337173 )
2017
11
Gene co-expression network analysis of dysferlinopathy: Altered cellular processes and functional prediction of TOR1AIP1, a novel muscular dystrophy gene. ( 28110863 )
2017
12
A unique case of dysferlinopathy with a large-segment duplication mutation who experienced rapid deterioration after small-dosage corticosteroid treatment. ( 28431623 )
2017
13
Structure-Based Designed Nano-Dysferlin Significantly Improves Dysferlinopathy in BLA/J Mice. ( 28629822 )
2017
14
Corrigendum: Twenty-Year Clinical Progression of Dysferlinopathy in Patients from Dagestan. ( 28428771 )
2017
15
Whole Exome Sequencing Leading to the Diagnosis of Dysferlinopathy with a Novel Missense Mutation (c.959G&amp;gt;C). ( 27195159 )
2016
16
Dysferlin function in skeletal muscle: Possible pathological mechanisms and therapeutical targets in dysferlinopathies. ( 27349407 )
2016
17
The Clinical Outcome Study for dysferlinopathy: An international multicenter study. ( 27602406 )
2016
18
Heterogeneous characteristics of magnetic resonance imaging changes of thigh muscles in patients with dysferlinopathy. ( 27251469 )
2016
19
Broadening The Imaging Phenotype of Dysferlinopathy at Different Disease Stages. ( 26800485 )
2016
20
Dysferlin Gene Mutation Spectrum in a Large Cohort of Chinese Patients with Dysferlinopathy. ( 27647186 )
2016
21
Progress and challenges in diagnosis of dysferlinopathy. ( 27501525 )
2016
22
Isotretinoin treatment of autosomal recessive congenital ichthyosis complicated by coexisting dysferlinopathy. ( 26620441 )
2016
23
Dysferlinopathy: mitochondrial abnormalities in human skeletal muscle. ( 26000923 )
2015
24
AAV.Dysferlin Overlap Vectors Restore Function in Dysferlinopathy Animal Models. ( 25815352 )
2015
25
Dysferlinopathy Fibroblasts Are Defective in Plasma Membrane Repair. ( 26579332 )
2015
26
Genome-wide expression analysis comparing hypertrophic changes in normal and dysferlinopathy mice. ( 26697388 )
2015
27
LGMD phenotype due to a new gene and dysferlinopathy investigated by next-generation sequencing. ( 27066575 )
2015
28
Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects. ( 26444858 )
2015
29
Towards an objective measure of functional disability in dysferlinopathy. ( 25900324 )
2015
30
Respiratory and cardiac function in Japanese patients with dysferlinopathy. ( 26088049 )
2015
31
Dysferlinopathy in Iran: Clinical and genetic report. ( 26671124 )
2015
32
Targeted next-generation sequencing for the genetic diagnosis of dysferlinopathy. ( 25868377 )
2015
33
CD4+ cells, macrophages, MHC-I and C5b-9 involve the pathogenesis of dysferlinopathy. ( 26045819 )
2015
34
Late onset dysferlinopathy mimicking treatment resistant polymyositis. ( 26471412 )
2015
35
Genetic profile for suspected dysferlinopathy identified by targeted next-generation sequencing. ( 27066573 )
2015
36
Muscle hypertrophy induced by myostatin inhibition accelerates degeneration in dysferlinopathy. ( 26206886 )
2015
37
Exome sequencing as a second-tier diagnostic approach for clinically suspected dysferlinopathy patients. ( 25046369 )
2014
38
Case report of an adolescent girl with limb-girdle muscular dystrophy type 2B - the usefulness of muscle protein immunostaining in the diagnosis of dysferlinopathies. ( 25574751 )
2014
39
Late-onset dysferlinopathy presented as &amp;quot;liver enzyme&amp;quot; abnormalities: a technical note. ( 25036559 )
2014
40
Diagnostic overview of blood-based dysferlin protein assay for dysferlinopathies. ( 24488599 )
2014
41
Improved immunoblotting methods provide critical insights into phenotypic differences between two murine dysferlinopathy models. ( 24639380 )
2014
42
Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy. ( 25591676 )
2014
43
Muscle atrophy, ubiquitin-proteasome, and autophagic pathways in dysferlinopathy. ( 24395438 )
2014
44
Involvement of oxidative stress, nuclear factor kappa B and the ubiquitin proteasomal pathway in dysferlinopathy. ( 24846833 )
2014
45
Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trial. ( 23406536 )
2013
46
Dysferlinopathy presenting as rhabdomyolysis and acute renal failure. ( 22550092 )
2013
47
Dual effects of exercise in dysferlinopathy. ( 23624156 )
2013
48
DYSF mutation analysis in a group of Chinese patients with dysferlinopathy. ( 23254335 )
2013
49
An autopsy case of a dysferlinopathy patient with cardiac involvement. ( 22246893 )
2012
50
Dysferlin-deficient immortalized human myoblasts and myotubes as a useful tool to study dysferlinopathy. ( 22367358 )
2012

Variations for Dysferlinopathy

ClinVar genetic disease variations for Dysferlinopathy:

6
(show top 50) (show all 378)
# Gene Variation Type Significance SNP ID Assembly Location
1 DYSF NM_003494.3(DYSF): c.2779delG (p.Ala927Leufs) deletion Pathogenic rs727503909 GRCh37 Chromosome 2, 71795437: 71795437
2 DYSF NM_003494.3(DYSF): c.2779delG (p.Ala927Leufs) deletion Pathogenic rs727503909 GRCh38 Chromosome 2, 71568307: 71568307
3 DYSF NM_003494.3(DYSF): c.3444_3445delTGinsAA (p.Tyr1148Ter) indel Pathogenic rs398123781 GRCh37 Chromosome 2, 71817342: 71817343
4 DYSF NM_003494.3(DYSF): c.3444_3445delTGinsAA (p.Tyr1148Ter) indel Pathogenic rs398123781 GRCh38 Chromosome 2, 71590212: 71590213
5 DYSF NM_003494.3(DYSF): c.4200dupC (p.Ile1401Hisfs) duplication Pathogenic rs398123786 GRCh37 Chromosome 2, 71839803: 71839803
6 DYSF NM_003494.3(DYSF): c.4200dupC (p.Ile1401Hisfs) duplication Pathogenic rs398123786 GRCh38 Chromosome 2, 71612673: 71612673
7 DYSF NM_003494.3(DYSF): c.4253G> A (p.Gly1418Asp) single nucleotide variant Pathogenic/Likely pathogenic rs398123787 GRCh37 Chromosome 2, 71839856: 71839856
8 DYSF NM_003494.3(DYSF): c.4253G> A (p.Gly1418Asp) single nucleotide variant Pathogenic/Likely pathogenic rs398123787 GRCh38 Chromosome 2, 71612726: 71612726
9 DYSF NM_003494.3(DYSF): c.5979dupA (p.Glu1994Argfs) duplication Pathogenic rs398123799 GRCh37 Chromosome 2, 71908163: 71908163
10 DYSF NM_003494.3(DYSF): c.5979dupA (p.Glu1994Argfs) duplication Pathogenic rs398123799 GRCh38 Chromosome 2, 71681033: 71681033
11 DYSF NM_003494.3(DYSF): c.3702+9G> T single nucleotide variant Conflicting interpretations of pathogenicity rs191746041 GRCh37 Chromosome 2, 71825884: 71825884
12 DYSF NM_003494.3(DYSF): c.3702+9G> T single nucleotide variant Conflicting interpretations of pathogenicity rs191746041 GRCh38 Chromosome 2, 71598754: 71598754
13 DYSF NM_003494.3(DYSF): c.3283C> T (p.Arg1095Cys) single nucleotide variant Benign/Likely benign rs141536854 GRCh37 Chromosome 2, 71801436: 71801436
14 DYSF NM_003494.3(DYSF): c.3283C> T (p.Arg1095Cys) single nucleotide variant Benign/Likely benign rs141536854 GRCh38 Chromosome 2, 71574306: 71574306
15 DYSF NM_003494.3(DYSF): c.2588A> C (p.Asp863Ala) single nucleotide variant Benign/Likely benign rs35884879 GRCh37 Chromosome 2, 71795157: 71795157
16 DYSF NM_003494.3(DYSF): c.2588A> C (p.Asp863Ala) single nucleotide variant Benign/Likely benign rs35884879 GRCh38 Chromosome 2, 71568027: 71568027
17 DYSF NM_003494.3(DYSF): c.3213C> T (p.Tyr1071=) single nucleotide variant Conflicting interpretations of pathogenicity rs150355624 GRCh37 Chromosome 2, 71801366: 71801366
18 DYSF NM_003494.3(DYSF): c.3213C> T (p.Tyr1071=) single nucleotide variant Conflicting interpretations of pathogenicity rs150355624 GRCh38 Chromosome 2, 71574236: 71574236
19 DYSF NM_003494.3(DYSF): c.3702T> C (p.Tyr1234=) single nucleotide variant Conflicting interpretations of pathogenicity rs141720146 GRCh37 Chromosome 2, 71825875: 71825875
20 DYSF NM_003494.3(DYSF): c.3702T> C (p.Tyr1234=) single nucleotide variant Conflicting interpretations of pathogenicity rs141720146 GRCh38 Chromosome 2, 71598745: 71598745
21 DYSF NM_003494.3(DYSF): c.5525+1G> A single nucleotide variant Pathogenic rs727503915 GRCh37 Chromosome 2, 71896338: 71896338
22 DYSF NM_003494.3(DYSF): c.5525+1G> A single nucleotide variant Pathogenic rs727503915 GRCh38 Chromosome 2, 71669208: 71669208
23 DYSF NM_003494.3(DYSF): c.1572C> T (p.Asn524=) single nucleotide variant Benign/Likely benign rs139495331 GRCh37 Chromosome 2, 71778220: 71778220
24 DYSF NM_003494.3(DYSF): c.1572C> T (p.Asn524=) single nucleotide variant Benign/Likely benign rs139495331 GRCh38 Chromosome 2, 71551090: 71551090
25 DYSF NM_003494.3(DYSF): c.1966A> G (p.Lys656Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs139754493 GRCh37 Chromosome 2, 71780972: 71780972
26 DYSF NM_003494.3(DYSF): c.1966A> G (p.Lys656Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs139754493 GRCh38 Chromosome 2, 71553842: 71553842
27 DYSF NM_003494.3(DYSF): c.2281G> A (p.Gly761Ser) single nucleotide variant Uncertain significance rs138654170 GRCh37 Chromosome 2, 71789000: 71789000
28 DYSF NM_003494.3(DYSF): c.2281G> A (p.Gly761Ser) single nucleotide variant Uncertain significance rs138654170 GRCh38 Chromosome 2, 71561870: 71561870
29 DYSF NM_003494.3(DYSF): c.2671G> A (p.Val891Ile) single nucleotide variant Uncertain significance rs201622087 GRCh37 Chromosome 2, 71795329: 71795329
30 DYSF NM_003494.3(DYSF): c.2671G> A (p.Val891Ile) single nucleotide variant Uncertain significance rs201622087 GRCh38 Chromosome 2, 71568199: 71568199
31 DYSF NM_003494.3(DYSF): c.2902A> T (p.Met968Leu) single nucleotide variant Uncertain significance rs144636654 GRCh37 Chromosome 2, 71797041: 71797041
32 DYSF NM_003494.3(DYSF): c.2902A> T (p.Met968Leu) single nucleotide variant Uncertain significance rs144636654 GRCh38 Chromosome 2, 71569911: 71569911
33 DYSF NM_003494.3(DYSF): c.3249C> T (p.Tyr1083=) single nucleotide variant Benign/Likely benign rs201477760 GRCh37 Chromosome 2, 71801402: 71801402
34 DYSF NM_003494.3(DYSF): c.3249C> T (p.Tyr1083=) single nucleotide variant Benign/Likely benign rs201477760 GRCh38 Chromosome 2, 71574272: 71574272
35 DYSF NM_003494.3(DYSF): c.4200C> T (p.Pro1400=) single nucleotide variant Conflicting interpretations of pathogenicity rs142769942 GRCh37 Chromosome 2, 71839803: 71839803
36 DYSF NM_003494.3(DYSF): c.4200C> T (p.Pro1400=) single nucleotide variant Conflicting interpretations of pathogenicity rs142769942 GRCh38 Chromosome 2, 71612673: 71612673
37 DYSF NM_003494.3(DYSF): c.4434G> A (p.Trp1478Ter) single nucleotide variant Pathogenic rs766016391 GRCh37 Chromosome 2, 71871118: 71871118
38 DYSF NM_003494.3(DYSF): c.4434G> A (p.Trp1478Ter) single nucleotide variant Pathogenic rs766016391 GRCh38 Chromosome 2, 71643988: 71643988
39 DYSF NM_003494.3(DYSF): c.4512C> G (p.Val1504=) single nucleotide variant Conflicting interpretations of pathogenicity rs142483266 GRCh37 Chromosome 2, 71883294: 71883294
40 DYSF NM_003494.3(DYSF): c.4512C> G (p.Val1504=) single nucleotide variant Conflicting interpretations of pathogenicity rs142483266 GRCh38 Chromosome 2, 71656164: 71656164
41 DYSF NM_003494.3(DYSF): c.4820T> C (p.Ile1607Thr) single nucleotide variant Benign rs146384562 GRCh37 Chromosome 2, 71887715: 71887715
42 DYSF NM_003494.3(DYSF): c.4820T> C (p.Ile1607Thr) single nucleotide variant Benign rs146384562 GRCh38 Chromosome 2, 71660585: 71660585
43 DYSF NM_003494.3(DYSF): c.4893C> T (p.Phe1631=) single nucleotide variant Conflicting interpretations of pathogenicity rs151276652 GRCh37 Chromosome 2, 71891404: 71891404
44 DYSF NM_003494.3(DYSF): c.4893C> T (p.Phe1631=) single nucleotide variant Conflicting interpretations of pathogenicity rs151276652 GRCh38 Chromosome 2, 71664274: 71664274
45 DYSF NM_003494.3(DYSF): c.6057G> A (p.Arg2019=) single nucleotide variant Conflicting interpretations of pathogenicity rs143762717 GRCh37 Chromosome 2, 71909660: 71909660
46 DYSF NM_003494.3(DYSF): c.6057G> A (p.Arg2019=) single nucleotide variant Conflicting interpretations of pathogenicity rs143762717 GRCh38 Chromosome 2, 71682530: 71682530
47 DYSF NM_003494.3(DYSF): c.681C> T (p.Ile227=) single nucleotide variant Benign rs138054675 GRCh37 Chromosome 2, 71742770: 71742770
48 DYSF NM_003494.3(DYSF): c.681C> T (p.Ile227=) single nucleotide variant Benign rs138054675 GRCh38 Chromosome 2, 71515640: 71515640
49 DYSF NM_003494.3(DYSF): c.3516_3517delTT (p.Ser1173Terfs) deletion Pathogenic rs863224867 GRCh37 Chromosome 2, 71817414: 71817415
50 DYSF NM_003494.3(DYSF): c.3516_3517delTT (p.Ser1173Terfs) deletion Pathogenic rs863224867 GRCh38 Chromosome 2, 71590284: 71590285

Expression for Dysferlinopathy

Search GEO for disease gene expression data for Dysferlinopathy.

Pathways for Dysferlinopathy

GO Terms for Dysferlinopathy

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

# Name GO ID Score Top Affiliating Genes
1 T-tubule GO:0030315 9.16 CAPN3 DYSF
2 nuclear membrane GO:0031965 9.13 AQP1 MYOF TOR1AIP1
3 basolateral plasma membrane GO:0016323 8.8 AQP1 AQP4 OTOF

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

# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.58 AQP1 AQP4 MIP
2 cellular response to hydrogen peroxide GO:0070301 9.43 AQP1 RELA
3 renal water homeostasis GO:0003091 9.37 AQP1 AQP4
4 negative regulation of protein sumoylation GO:0033234 9.32 CAPN3 RELA
5 plasma membrane repair GO:0001778 9.26 DYSF MYOF
6 multicellular organismal water homeostasis GO:0050891 9.16 AQP1 AQP4
7 cellular response to salt stress GO:0071472 8.96 AQP1 CAPN3
8 water transport GO:0006833 8.8 AQP1 AQP4 MIP

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

# Name GO ID Score Top Affiliating Genes
1 water transmembrane transporter activity GO:0005372 9.16 AQP1 AQP4
2 channel activity GO:0015267 9.13 AQP1 AQP4 MIP
3 water channel activity GO:0015250 8.8 AQP1 AQP4 MIP

Sources for Dysferlinopathy

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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