EPM2
MCID: MYC079
MIFTS: 65

Myoclonic Epilepsy of Lafora (EPM2)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Myoclonic Epilepsy of Lafora

MalaCards integrated aliases for Myoclonic Epilepsy of Lafora:

Name: Myoclonic Epilepsy of Lafora 56 12 52 73
Lafora Disease 56 12 74 52 58 73 36 29 54 6 43 15 71
Epilepsy, Progressive Myoclonic 2b 56 29 6 71
Epm2 56 52 58 73
Epilepsy, Progressive Myoclonic 2a 56 29 13
Melf 56 52 73
Lafora's Disease 12 73
Epm2a 56 73
Epilepsy, Progressive Myoclonic, 2a; Epm2a 56
Progressive Myoclonic Epilepsy Lafora Type 73
Lafora Progressive Myoclonic Epilepsy 12
Progressive Myoclonic Epilepsy Type 2 58
Progressive Myoclonus Epilepsy Type 2 58
Epilepsy, Progressive Myoclonic, 2a 56
Epilepsy, Progressive Myoclonic 2 73
Progressive Myoclonic Epilepsy 2a 73
Progressive Myoclonic Epilepsy 2b 73
Epilepsy Progressive Myoclonic 2 52
Progressive Myoclonic Epilepsy 2 73
Epilepsy, Myoclonic, of Lafora 39
Lafora Body Disease; Lbd 56
Lafora Body Disorder 52
Lafora Body Disease 56
Pme Type 2 58
Epm2b 73
Lbd 56
Ld 73

Characteristics:

Orphanet epidemiological data:

58
lafora disease
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (France); Age of onset: Adolescent; Age of death: young Adult;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity
onset in late childhood/adolescence (approximately 15 years)
short survival (less than 10 years after onset)
rapidly progressive disorder
patients with mutation in the nhlrc1 gene have slightly longer survival


HPO:

31
myoclonic epilepsy of lafora:
Inheritance autosomal recessive inheritance heterogeneous
Onset and clinical course rapidly progressive


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Myoclonic Epilepsy of Lafora

OMIM : 56 The Lafora type of progressive myoclonic epilepsy is an autosomal recessive disorder characterized by insidious onset of progressive neurodegeneration between 8 and 18 years of age. Initial features can include headache, difficulties in school work, myoclonic jerks, generalized seizures, and often visual hallucination. The myoclonus, seizures, and hallucinations gradually worsen and become intractable. This is accompanied by progressive cognitive decline, resulting in dementia. About 10 years after onset, affected individuals are in near-continuous myoclonus with absence seizures, frequent generalized seizures, and profound dementia or a vegetative state. Histologic studies of multiple tissues, including brain, muscle, liver, and heart show intracellular Lafora bodies, which are dense accumulations of malformed and insoluble glycogen molecules, termed polyglucosans (review by Ramachandran et al., 2009). For a discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A (254800). (254780)

MalaCards based summary : Myoclonic Epilepsy of Lafora, also known as lafora disease, is related to progressive myoclonus epilepsy, lafora type and neonatal period electroclinical syndrome, and has symptoms including myoclonus, hallucinations, visual and absence seizures. An important gene associated with Myoclonic Epilepsy of Lafora is EPM2A (EPM2A Glucan Phosphatase, Laforin), and among its related pathways/superpathways are Metabolism and HIV Life Cycle. The drugs Insulin, Globin Zinc and insulin have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and brain, and related phenotypes are lafora bodies and emotional lability

Disease Ontology : 12 A progressive myoclonus epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations, and progressive neurological decline with onset between 8 and 18 years of age that has material basis in homozygous or compound heterozygous mutation in either NHLRC1 on chromosome 6p22.3 or EPM2A on chromosome 6q24.3.

NIH Rare Diseases : 52 Lafora disease is an inherited , severe form of progressive myoclonus epilepsy . The condition most commonly begins with epileptic seizures in late childhood or adolescence. Other signs and symptoms include difficulty walking, muscle spasms (myoclonus) and dementia . Affected people also experience rapid cognitive deterioration that begins around the same time as the seizures. The condition is often fatal within 10 years of onset. Most cases are caused by changes (mutations ) in either the EPM2A gene or the NHLRC1 gene and are inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.

KEGG : 36 Lafora disease (LD) is an autosomal recessive and fatal form of progressive myoclonus epilepsy. LD is characterised by epilepsy, myoclonus, progressive neurological deterioration, and the presence of glycogen-like intracellular inclusion bodies (Lafora bodies). Mutations in two genes, EPM2A and NHLRC1, have been shown to cause this disease. The EPM2A gene product laforin is a protein phosphatase while the NHLRC1 gene product malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin.

UniProtKB/Swiss-Prot : 73 Epilepsy, progressive myoclonic 2: An autosomal recessive and severe form of adolescent-onset progressive epilepsy. Typically, as seizures increase in frequency, cognitive function declines towards dementia, and affected individuals die usually within 10 years after onset. EPM2 occurs worldwide, but it is particularly common in the mediterranean countries of southern Europe and northern Africa, in southern India and in the Middle East. At the cellular level, it is characterized by accumulation of starch-like polyglucosans called Lafora bodies (LBs) that are most abundant in organs with the highest glucose metabolism: brain, heart, liver and skeletal muscle. Among other conditions involving polyglucosans, EPM2 is unique in that the inclusions are in neuronal dendrites but not axons and the forming polyglucosan fibrils are associated with the endoplasmic reticulum.

Wikipedia : 74 Lafora disease is a fatal autosomal recessive, genetic disorder characterized by the presence of... more...

Related Diseases for Myoclonic Epilepsy of Lafora

Diseases related to Myoclonic Epilepsy of Lafora via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 269)
# Related Disease Score Top Affiliating Genes
1 progressive myoclonus epilepsy, lafora type 33.5 NHLRC1 EPM2A
2 neonatal period electroclinical syndrome 32.1 NHLRC1 EPM2A CSTB
3 electroclinical syndrome 32.1 NHLRC1 EPM2A CSTB
4 glycogen storage disease iv 31.9 NHLRC1 GYS2 GBE1 EPM2A
5 myoclonus epilepsy 31.8 NHLRC1 EPM2A CSTB
6 early myoclonic encephalopathy 30.9 NHLRC1 EPM2A CSTB
7 myoclonus 30.8 NHLRC1 EPM2A CSTB
8 glycogen storage disease 30.6 GYS2 GYS1 GYG2 GYG1 GBE1
9 progressive myoclonus epilepsy 30.5 PRKN NHLRC1 GYS1 GBE1 EPM2A DUSP13
10 carbohydrate metabolic disorder 30.4 GYS2 GYS1 GBE1
11 epilepsy 30.2 UBC NHLRC1 GYS1 EPM2A CSTB CLN3
12 epilepsy, myoclonic juvenile 30.2 NHLRC1 EPM2A CSTB
13 unverricht-lundborg syndrome 30.1 NHLRC1 EPM2A CSTB CLN3
14 glycoproteinosis 29.9 NHLRC1 CSTB
15 dementia 29.8 RPS27A PRKN NHLRC1 EPM2A CSTB
16 dementia, lewy body 12.5
17 lipoprotein types--ld system 12.4
18 loeys-dietz syndrome 12.2
19 myoclonic epilepsy of unverricht and lundborg 11.8
20 lymphedema-distichiasis syndrome 11.6
21 progressive myoclonus epilepsy 10 11.5
22 loeys-dietz syndrome 1 11.4
23 shprintzen-goldberg craniosynostosis syndrome 11.3
24 legionnaire disease 11.3
25 recombination rate quantitative trait locus 1 11.3
26 benign epilepsy with centrotemporal spikes 11.2
27 dystonia 11, myoclonic 11.2
28 restrictive dermopathy, lethal 11.2
29 loeys-dietz syndrome 2 11.2
30 loeys-dietz syndrome 5 11.2
31 lactate dehydrogenase deficiency 11.2
32 myoclonic epilepsy associated with ragged-red fibers 11.1
33 benign essential hypertension 11.1
34 childhood absence epilepsy 11.1
35 atypical polypoid adenomyoma 11.1
36 learning disability 10.9
37 endometrial cancer 10.7
38 adenocarcinoma 10.6
39 ataxia and polyneuropathy, adult-onset 10.5
40 endometrial adenocarcinoma 10.5
41 visual epilepsy 10.4
42 seizure disorder 10.4
43 fasting hypoglycemia 10.4 GYS2 GYS1
44 helix syndrome 10.4
45 attention deficit-hyperactivity disorder 10.4
46 adenomyosis 10.3
47 mycobacterium marinum 10.3
48 status epilepticus 10.3
49 glucocorticoid resistance, generalized 10.3
50 hyperandrogenism 10.3

Graphical network of the top 20 diseases related to Myoclonic Epilepsy of Lafora:



Diseases related to Myoclonic Epilepsy of Lafora

Symptoms & Phenotypes for Myoclonic Epilepsy of Lafora

Human phenotypes related to Myoclonic Epilepsy of Lafora:

58 31 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 lafora bodies 58 31 obligate (100%) Obligate (100%) HP:0100318
2 emotional lability 58 31 frequent (33%) Frequent (79-30%) HP:0000712
3 depressivity 58 31 frequent (33%) Frequent (79-30%) HP:0000716
4 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
5 spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0001257
6 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
7 nasogastric tube feeding 58 31 frequent (33%) Frequent (79-30%) HP:0040288
8 generalized myoclonic seizures 58 31 frequent (33%) Frequent (79-30%) HP:0002123
9 inability to walk 58 31 frequent (33%) Frequent (79-30%) HP:0002540
10 status epilepticus 58 31 frequent (33%) Frequent (79-30%) HP:0002133
11 dementia 58 31 frequent (33%) Frequent (79-30%) HP:0000726
12 confusion 58 31 frequent (33%) Frequent (79-30%) HP:0001289
13 giant somatosensory evoked potentials 58 31 frequent (33%) Frequent (79-30%) HP:0001312
14 recurrent aspiration pneumonia 58 31 frequent (33%) Frequent (79-30%) HP:0002100
15 headache 58 31 frequent (33%) Frequent (79-30%) HP:0002315
16 visual hallucinations 58 31 frequent (33%) Frequent (79-30%) HP:0002367
17 hypsarrhythmia 58 31 frequent (33%) Frequent (79-30%) HP:0002521
18 erratic myoclonus 58 31 frequent (33%) Frequent (79-30%) HP:0025357
19 brain atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0012444
20 sleep disturbance 58 31 occasional (7.5%) Occasional (29-5%) HP:0002360
21 focal impaired awareness seizure 58 31 occasional (7.5%) Occasional (29-5%) HP:0002384
22 hepatic failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001399
23 atypical absence seizure 58 31 occasional (7.5%) Occasional (29-5%) HP:0007270
24 generalized tonic-clonic seizures with focal onset 58 31 occasional (7.5%) Occasional (29-5%) HP:0007334
25 severe photosensitivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0007537
26 atonic seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0010819
27 simple partial occipital seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0025121
28 vegetative state 58 31 occasional (7.5%) Occasional (29-5%) HP:0031358
29 gait disturbance 58 31 Frequent (79-30%) HP:0001288
30 myoclonus 58 31 Occasional (29-5%) HP:0001336
31 absence seizure 58 31 Occasional (29-5%) HP:0002121
32 seizures 58 Very frequent (99-80%)
33 cutaneous photosensitivity 31 HP:0000992
34 generalized tonic-clonic seizures 58 Occasional (29-5%)
35 psychosis 31 HP:0000709
36 apraxia 31 HP:0002186
37 visual loss 31 HP:0000572
38 mental deterioration 58 Frequent (79-30%)
39 focal-onset seizure 58 Occasional (29-5%)
40 progressive neurologic deterioration 31 HP:0002344
41 visual auras 31 HP:0011165

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
myoclonus
generalized tonic-clonic seizures
apraxia
dementia
mental deterioration
more
Head And Neck Eyes:
photosensitivity
loss of vision

Laboratory Abnormalities:
intracellular pas-positive polyglucosan inclusion bodies ('lafora' bodies) can be found in various tissues (brain, liver, muscle, heart, skin)

Neurologic Behavioral Psychiatric Manifestations:
psychosis

Abdomen Liver:
hepatic failure (less common)

Clinical features from OMIM:

254780

UMLS symptoms related to Myoclonic Epilepsy of Lafora:


myoclonus, hallucinations, visual, absence seizures, unspecified visual loss

GenomeRNAi Phenotypes related to Myoclonic Epilepsy of Lafora according to GeneCards Suite gene sharing:

26 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 10.19 RPS27A UBB
2 Decreased viability GR00221-A-1 10.19 DUSP13
3 Decreased viability GR00221-A-2 10.19 DUSP13
4 Decreased viability GR00221-A-3 10.19 DUSP13
5 Decreased viability GR00240-S-1 10.19 UBA52 UBC
6 Decreased viability GR00342-S-1 10.19 CDKN3
7 Decreased viability GR00342-S-2 10.19 CDKN3
8 Decreased viability GR00381-A-1 10.19 CSTB PPP1R3C RPS27A UBB UBC
9 Decreased viability GR00402-S-2 10.19 ACP1 CDKN3 CLN3 CSTB DUSP13 DUSP19
10 Decreased cell number GR00098-A-1 9.86 RPS27A UBA52 UBB UBC
11 Decreased cell number GR00303-A 9.86 RPS27A UBA52 UBB UBC
12 Decreased NF-kappaB reporter expression GR00312-A 9.85 CSTB DUSP13 GYS2 NFU1 PPP1R3C PRKN
13 no effect GR00402-S-1 9.62 ACP1 CDKN3 CLN3 CSTB DUSP13 DUSP19

MGI Mouse Phenotypes related to Myoclonic Epilepsy of Lafora:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.93 ACP1 CLN3 CSTB EPM2A GBE1 GYG1
2 liver/biliary system MP:0005370 9.56 CLN3 EPM2A GBE1 GYS1 GYS2 NHLRC1
3 muscle MP:0005369 9.32 ACP1 CSTB EPM2A GBE1 GYG1 GYS1

Drugs & Therapeutics for Myoclonic Epilepsy of Lafora

Drugs for Myoclonic Epilepsy of Lafora (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Insulin, Globin Zinc
2 insulin

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Trial of Ketogenic Diet in Lafora Disease Completed NCT00007124
2 Prospective, Longitudinal, Observational Study of the Natural History and Functional Status of Patients With Lafora Disease Recruiting NCT03876522

Search NIH Clinical Center for Myoclonic Epilepsy of Lafora

Cochrane evidence based reviews: lafora disease

Genetic Tests for Myoclonic Epilepsy of Lafora

Genetic tests related to Myoclonic Epilepsy of Lafora:

# Genetic test Affiliating Genes
1 Lafora Disease 29 EPM2A NHLRC1
2 Epilepsy, Progressive Myoclonic 2b 29
3 Epilepsy, Progressive Myoclonic 2b (lafora) 29
4 Epilepsy, Progressive Myoclonic 2a (lafora) 29

Anatomical Context for Myoclonic Epilepsy of Lafora

MalaCards organs/tissues related to Myoclonic Epilepsy of Lafora:

40
Liver, Heart, Brain, Skin, Skeletal Muscle, Cortex, Testes

Publications for Myoclonic Epilepsy of Lafora

Articles related to Myoclonic Epilepsy of Lafora:

(show top 50) (show all 394)
# Title Authors PMID Year
1
Lafora disease due to EPM2B mutations: a clinical and genetic study. 54 61 6 56
15781812 2005
2
Mutations in NHLRC1 cause progressive myoclonus epilepsy. 54 56 6 61
12958597 2003
3
A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2). 61 6 54 56
9931343 1999
4
Novel NHLRC1 mutations and genotype-phenotype correlations in patients with Lafora's progressive myoclonic epilepsy. 6 56 54
16950819 2006
5
Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy. 56 6 54
9771710 1998
6
Lafora progressive myoclonus epilepsy: a meta-analysis of reported mutations in the first decade following the discovery of the EPM2A and NHLRC1 genes. 56 61 54
19267391 2009
7
Lafora progressive Myoclonus Epilepsy mutation database-EPM2A and NHLRC1 (EPM2B) genes. 61 54 6
16134145 2005
8
Insights into Lafora disease: malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin. 61 56 54
15930137 2005
9
Mutations in the NHLRC1 gene are the common cause for Lafora disease in the Japanese population. 56 54 61
16021330 2005
10
Skin biopsy in Lafora disease: genotype-phenotype correlations and diagnostic pitfalls. 56 61 54
14663053 2003
11
Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22. 56 54 61
12960212 2003
12
A unique carbohydrate binding domain targets the lafora disease phosphatase to glycogen. 54 6 61
11739371 2002
13
Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions. 54 61 6
11175283 2000
14
Glycogen accumulation underlies neurodegeneration and autophagy impairment in Lafora disease. 61 56
24452334 2014
15
Neurodegeneration and functional impairments associated with glycogen synthase accumulation in a mouse model of Lafora disease. 61 56
21882344 2011
16
The autosomal recessively inherited progressive myoclonus epilepsies and their genes. 56 61
19469843 2009
17
Progressive Myoclonus Epilepsy, Lafora Type 6 61
20301563 2007
18
Recent advances in the molecular basis of Lafora's progressive myoclonus epilepsy. 54 56
16311711 2006
19
Expanded repeat in canine epilepsy. 61 56
15637270 2005
20
Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsy. 6 61
14722920 2004
21
Targeted disruption of the Epm2a gene causes formation of Lafora inclusion bodies, neurodegeneration, ataxia, myoclonus epilepsy and impaired behavioral response in mice. 56 61
12019206 2002
22
Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype. 54 56
12019207 2002
23
Identification of a recombination event narrowing the Lafora disease gene region. 56 61
9222970 1997
24
Progressive myoclonus epilepsy: genetic and nosological aspects with special reference to 107 Finnish patients. 61 56
109240 1979
25
Sensorimotor cortex excitability in Unverricht-Lundborg disease and Lafora body disease. 56
15623692 2004
26
[Lafora's disease and movement disorders: report of 2 cases]. 56
10973115 2000
27
Mutation spectrum and predicted function of laforin in Lafora's progressive myoclonus epilepsy. 6
10932264 2000
28
Lafora progressive myoclonus epilepsy: narrowing the chromosome 6q24 locus by recombinations and homozygosities. 56
9345091 1997
29
The gene for progressive myoclonus epilepsy of the Lafora type maps to chromosome 6q. 56
8541857 1995
30
Linkage studies in progressive myoclonus epilepsy: Unverricht-Lundborg and Lafora's diseases. 56
1641151 1992
31
Axilla skin biopsy: a reliable test for the diagnosis of Lafora's disease. 56
3037993 1987
32
The man behind Lafora's bodies. 56
3085524 1986
33
Lafora's disease. Comparison of inclusion bodies in skin and in brain. 56
3004400 1986
34
Studies in myoclonus epilepsy (Lafora body form). I. Isolation and preliminary characterization of Lafora bodies in two cases. 56
4175641 1968
35
Progressive myoclonus epilepsy with Lafora inclusion bodies. I. Clinical, genetic, histopathologic, and biochemical aspects. 56
6026066 1967
36
LAFORA'S DISEASE. DISTINCT CLINICO-PATHOLOGIC FORM OF UNVERRICHT'S SYNDROME. 56
14237775 1965
37
The detection of carriers in hereditary myoclonic epilepsy. 56
13746547 1960
38
Progressive familial myoclonic epilepsy in three families: its clinical features and pathological basis. 56
13269595 1955
39
Escherichia coli expression, refolding and characterization of human laforin. 61 54
20152902 2010
40
Co-chaperone CHIP stabilizes aggregate-prone malin, a ubiquitin ligase mutated in Lafora disease. 54 61
19892702 2010
41
Lafora disease and congenital generalized lipodystrophy: a case report. 54 61
19951852 2009
42
Novel mutation in the NHLRC1 gene in a Malian family with a severe phenotype of Lafora disease. 54 61
19322595 2009
43
MR spectroscopy findings in Lafora disease. 61 54
19040628 2009
44
Structural insights into glucan phosphatase dynamics using amide hydrogen-deuterium exchange mass spectrometry. 61 54
19754155 2009
45
Increased endoplasmic reticulum stress and decreased proteasomal function in lafora disease models lacking the phosphatase laforin. 54 61
19529779 2009
46
Debate: Does genetic information in humans help us treat patients? PRO--genetic information in humans helps us treat patients. CON--genetic information does not help at all. 54 61
19087113 2008
47
Modulation of functional properties of laforin phosphatase by alternative splicing reveals a novel mechanism for the EPM2A gene in Lafora progressive myoclonus epilepsy. 61 54
18617530 2008
48
Lafora disease in the Indian population: EPM2A and NHLRC1 gene mutations and their impact on subcellular localization of laforin and malin. 54 61
18311786 2008
49
Advances in lafora progressive myoclonus epilepsy. 54 61
17764634 2007
50
Founder effect with variable age at onset in Arab families with Lafora disease and EPM2A mutation. 54 61
17509003 2007

Variations for Myoclonic Epilepsy of Lafora

ClinVar genetic disease variations for Myoclonic Epilepsy of Lafora:

6 (show top 50) (show all 92) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NHLRC1 NM_198586.3(NHLRC1):c.76T>A (p.Cys26Ser)SNV Pathogenic 2586 rs28940575 6:18122762-18122762 6:18122531-18122531
2 NHLRC1 NM_198586.3(NHLRC1):c.205C>G (p.Pro69Ala)SNV Pathogenic 2587 rs28940576 6:18122633-18122633 6:18122402-18122402
3 NHLRC1 NM_198586.3(NHLRC1):c.468_469del (p.Gly158fs)deletion Pathogenic 2588 rs587776542 6:18122369-18122370 6:18122138-18122139
4 NHLRC1 NM_198586.3(NHLRC1):c.992del (p.Gly331fs)deletion Pathogenic 2589 rs587776543 6:18121846-18121846 6:18121615-18121615
5 NHLRC1 NM_198586.3(NHLRC1):c.793C>T (p.Arg265Ter)SNV Pathogenic 2590 rs121917875 6:18122045-18122045 6:18121814-18121814
6 NHLRC1 NM_198586.3(NHLRC1):c.593T>A (p.Ile198Asn)SNV Pathogenic 2591 rs121917876 6:18122245-18122245 6:18122014-18122014
7 NHLRC1 NM_198586.3(NHLRC1):c.923A>C (p.Asp308Ala)SNV Pathogenic 2592 rs137852859 6:18121915-18121915 6:18121684-18121684
8 EPM2A NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter)SNV Pathogenic 3098 rs104893950 6:145948827-145948827 6:145627691-145627691
9 EPM2A NM_005670.4(EPM2A):c.953dup (p.Gln319fs)duplication Pathogenic 3106 rs587776554 6:145948598-145948598 6:145627462-145627462
10 EPM2A NM_005670.4(EPM2A):c.322C>T (p.Arg108Cys)SNV Pathogenic 3100 rs137852915 6:146007412-146007412 6:145686276-145686276
11 EPM2A NM_005670.4(EPM2A):c.335dup (p.Tyr112Ter)duplication Pathogenic 3101 rs587776553 6:146007399-146007399 6:145686263-145686263
12 NHLRC1 NM_198586.3(NHLRC1):c.436G>A (p.Asp146Asn)SNV Pathogenic 162618 rs769301934 6:18122402-18122402 6:18122171-18122171
13 NHLRC1 NM_198586.3(NHLRC1):c.462dup (p.Asp155Ter)duplication Pathogenic 663551 6:18122375-18122376 6:18122149-18122149
14 EPM2A NM_005670.4(EPM2A):c.835G>A (p.Gly279Ser)SNV Pathogenic/Likely pathogenic 3099 rs137852917 6:145948713-145948713 6:145627577-145627577
15 EPM2A NM_005670.4(EPM2A):c.94T>G (p.Trp32Gly)SNV Likely pathogenic 3107 rs104893955 6:146056541-146056541 6:145735405-145735405
16 NHLRC1 NM_198586.3(NHLRC1):c.32C>A (p.Ala11Glu)SNV Conflicting interpretations of pathogenicity 167350 rs139029314 6:18122806-18122806 6:18122575-18122575
17 NHLRC1 NM_198586.3(NHLRC1):c.303G>T (p.Pro101=)SNV Conflicting interpretations of pathogenicity 138522 rs187783545 6:18122535-18122535 6:18122304-18122304
18 NHLRC1 NM_198586.3(NHLRC1):c.1142A>G (p.Asp381Gly)SNV Conflicting interpretations of pathogenicity 206192 rs200201752 6:18121696-18121696 6:18121465-18121465
19 NHLRC1 NM_198586.3(NHLRC1):c.1091C>T (p.Ser364Leu)SNV Conflicting interpretations of pathogenicity 206182 rs78324544 6:18121747-18121747 6:18121516-18121516
20 NHLRC1 NM_198586.3(NHLRC1):c.46A>G (p.Met16Val)SNV Conflicting interpretations of pathogenicity 193518 rs146636139 6:18122792-18122792 6:18122561-18122561
21 NHLRC1 NM_198586.3(NHLRC1):c.422T>C (p.Val141Ala)SNV Conflicting interpretations of pathogenicity 206188 rs143537405 6:18122416-18122416 6:18122185-18122185
22 NHLRC1 NM_198586.3(NHLRC1):c.386C>A (p.Pro129His)SNV Conflicting interpretations of pathogenicity 206187 rs750465793 6:18122452-18122452 6:18122221-18122221
23 NHLRC1 NM_198586.3(NHLRC1):c.103C>G (p.His35Asp)SNV Uncertain significance 206184 rs752045674 6:18122735-18122735 6:18122504-18122504
24 NHLRC1 NM_198586.3(NHLRC1):c.*358_*361deldeletion Uncertain significance 356067 rs550375620 6:18121289-18121292 6:18121058-18121061
25 NHLRC1 NM_198586.3(NHLRC1):c.*326C>TSNV Uncertain significance 356071 rs369668171 6:18121324-18121324 6:18121093-18121093
26 NHLRC1 NM_198586.3(NHLRC1):c.*320G>ASNV Uncertain significance 356072 rs79197160 6:18121330-18121330 6:18121099-18121099
27 EPM2A NM_005670.4(EPM2A):c.488A>G (p.Asn163Ser)SNV Uncertain significance 205426 rs141919651 6:145956611-145956611 6:145635475-145635475
28 EPM2A NM_005670.4(EPM2A):c.136G>A (p.Ala46Thr)SNV Uncertain significance 205444 rs374338349 6:146056499-146056499 6:145735363-145735363
29 NHLRC1 NM_198586.3(NHLRC1):c.681T>A (p.Asn227Lys)SNV Uncertain significance 206190 rs140850172 6:18122157-18122157 6:18121926-18121926
30 NHLRC1 NM_198586.3(NHLRC1):c.551A>G (p.Asn184Ser)SNV Uncertain significance 206178 rs138667242 6:18122287-18122287 6:18122056-18122056
31 NHLRC1 NM_198586.3(NHLRC1):c.1090T>A (p.Ser364Thr)SNV Uncertain significance 206181 rs370044232 6:18121748-18121748 6:18121517-18121517
32 EPM2A NM_005670.4(EPM2A):c.235G>C (p.Gly79Arg)SNV Uncertain significance 193326 rs374826256 6:146056400-146056400 6:145735264-145735264
33 EPM2A NM_005670.4(EPM2A):c.512G>A (p.Arg171His)SNV Uncertain significance 3102 rs137852916 6:145956587-145956587 6:145635451-145635451
34 NHLRC1 NM_198586.3(NHLRC1):c.*248C>GSNV Uncertain significance 356074 rs182779486 6:18121402-18121402 6:18121171-18121171
35 NHLRC1 NM_198586.3(NHLRC1):c.1076T>A (p.Val359Asp)SNV Uncertain significance 356080 rs372993582 6:18121762-18121762 6:18121531-18121531
36 NHLRC1 NM_198586.3(NHLRC1):c.397G>A (p.Ala133Thr)SNV Uncertain significance 356082 rs886061254 6:18122441-18122441 6:18122210-18122210
37 NHLRC1 NM_198586.3(NHLRC1):c.*875T>CSNV Uncertain significance 356056 rs72839174 6:18120775-18120775 6:18120544-18120544
38 NHLRC1 NM_198586.3(NHLRC1):c.*875T>ASNV Uncertain significance 356057 rs72839174 6:18120775-18120775 6:18120544-18120544
39 NHLRC1 NM_198586.3(NHLRC1):c.*720T>CSNV Uncertain significance 356060 rs141863990 6:18120930-18120930 6:18120699-18120699
40 NHLRC1 NM_198586.3(NHLRC1):c.*662C>GSNV Uncertain significance 356061 rs150615281 6:18120988-18120988 6:18120757-18120757
41 NHLRC1 NM_198586.3(NHLRC1):c.*837G>ASNV Uncertain significance 356058 rs536257194 6:18120813-18120813 6:18120582-18120582
42 NHLRC1 NM_198586.3(NHLRC1):c.*797A>GSNV Uncertain significance 356059 rs886061250 6:18120853-18120853 6:18120622-18120622
43 NHLRC1 NM_198586.3(NHLRC1):c.*406A>GSNV Uncertain significance 356066 rs886061251 6:18121244-18121244 6:18121013-18121013
44 NHLRC1 NM_198586.3(NHLRC1):c.*344A>TSNV Uncertain significance 356068 rs147528518 6:18121306-18121306 6:18121075-18121075
45 NHLRC1 NM_198586.3(NHLRC1):c.*332G>TSNV Uncertain significance 356070 rs140122442 6:18121318-18121318 6:18121087-18121087
46 NHLRC1 NM_198586.3(NHLRC1):c.*61C>ASNV Uncertain significance 356078 rs886061252 6:18121589-18121589 6:18121358-18121358
47 NHLRC1 NM_198586.3(NHLRC1):c.*55G>CSNV Uncertain significance 356079 rs11966789 6:18121595-18121595 6:18121364-18121364
48 NHLRC1 NM_198586.3(NHLRC1):c.541A>G (p.Thr181Ala)SNV Uncertain significance 356081 rs886061253 6:18122297-18122297 6:18122066-18122066
49 NHLRC1 NM_198586.3(NHLRC1):c.*442G>CSNV Uncertain significance 356065 rs555214908 6:18121208-18121208 6:18120977-18120977
50 NHLRC1 NM_198586.3(NHLRC1):c.*248C>ASNV Uncertain significance 356075 rs182779486 6:18121402-18121402 6:18121171-18121171

UniProtKB/Swiss-Prot genetic disease variations for Myoclonic Epilepsy of Lafora:

73 (show all 41)
# Symbol AA change Variation ID SNP ID
1 EPM2A p.Ser25Pro VAR_019465
2 EPM2A p.Glu28Lys VAR_019466
3 EPM2A p.Trp32Gly VAR_019467 rs104893955
4 EPM2A p.Phe84Leu VAR_019469 rs136223130
5 EPM2A p.Phe88Leu VAR_019470 rs103470642
6 EPM2A p.Arg91Pro VAR_019471
7 EPM2A p.Arg108Cys VAR_019472 rs137852915
8 EPM2A p.Arg171His VAR_019474 rs137852916
9 EPM2A p.Thr187Ala VAR_019475
10 EPM2A p.Thr194Ile VAR_019476 rs375544596
11 EPM2A p.Gly240Ser VAR_019477
12 EPM2A p.Gly279Ser VAR_019478 rs137852917
13 EPM2A p.Gln293Leu VAR_019479 rs796052427
14 EPM2A p.Tyr294Asn VAR_019480
15 EPM2A p.Pro301Leu VAR_019481 rs796052428
16 EPM2A p.Lys140Asn VAR_046383
17 EPM2A p.Asn148Tyr VAR_046384
18 EPM2A p.Glu210Lys VAR_046385
19 EPM2A p.Leu310Trp VAR_046386
20 NHLRC1 p.Cys26Ser VAR_019482 rs28940575
21 NHLRC1 p.Phe33Ser VAR_019483 rs757759398
22 NHLRC1 p.Pro69Ala VAR_019484 rs28940576
23 NHLRC1 p.Leu87Pro VAR_019485
24 NHLRC1 p.Asp146Asn VAR_019487 rs769301934
25 NHLRC1 p.Gln302Pro VAR_019488 rs757858146
26 NHLRC1 p.Ser22Arg VAR_046387
27 NHLRC1 p.Glu67Gln VAR_046388 rs779507031
28 NHLRC1 p.Cys68Tyr VAR_046389
29 NHLRC1 p.Leu126Pro VAR_046390 rs950907157
30 NHLRC1 p.Ile153Met VAR_046391
31 NHLRC1 p.Cys160Arg VAR_046392 rs200595273
32 NHLRC1 p.Ile198Asn VAR_046393 rs121917876
33 NHLRC1 p.Trp219Arg VAR_046394
34 NHLRC1 p.Asp233Ala VAR_046395
35 NHLRC1 p.Asp245Asn VAR_046396
36 NHLRC1 p.Arg253Lys VAR_046397
37 NHLRC1 p.Pro264His VAR_046398
38 NHLRC1 p.Leu279Pro VAR_046399
39 NHLRC1 p.Asp308Ala VAR_046401 rs137852859
40 NHLRC1 p.Cys46Tyr VAR_070793 rs119371874
41 NHLRC1 p.Leu261Pro VAR_070794 rs879745047

Expression for Myoclonic Epilepsy of Lafora

Search GEO for disease gene expression data for Myoclonic Epilepsy of Lafora.

Pathways for Myoclonic Epilepsy of Lafora

Pathways related to Myoclonic Epilepsy of Lafora according to GeneCards Suite gene sharing:

(show top 50) (show all 63)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.12 UBC UBB UBA52 RPS27A PPP1R3C NHLRC1
2
Show member pathways
13.71 UBC UBB UBA52 RPS27A PPP1R3C GYS2
3
Show member pathways
12.83 UBC UBB UBA52 RPS27A PRKN
4
Show member pathways
12.79 UBC UBB UBA52 RPS27A PPP1R3C NHLRC1
5 12.6 UBC UBB UBA52 RPS27A PRKN
6
Show member pathways
12.55 UBC UBB UBA52 RPS27A
7
Show member pathways
12.54 UBC UBB UBA52 RPS27A
8
Show member pathways
12.53 UBC UBB UBA52 RPS27A
9
Show member pathways
12.52 UBC UBB UBA52 RPS27A
10
Show member pathways
12.48 UBC UBB UBA52 RPS27A
11
Show member pathways
12.47 UBC UBB UBA52 RPS27A
12
Show member pathways
12.43 UBC UBB UBA52 RPS27A
13
Show member pathways
12.42 UBC UBB UBA52 RPS27A
14
Show member pathways
12.38 UBC UBB UBA52 RPS27A
15
Show member pathways
12.37 UBC UBB UBA52 RPS27A
16
Show member pathways
12.36 UBC UBB UBA52 RPS27A
17
Show member pathways
12.35 UBC UBB UBA52 RPS27A
18
Show member pathways
12.33 UBC UBB UBA52 RPS27A
19
Show member pathways
12.31 UBC UBB UBA52 RPS27A
20
Show member pathways
12.3 UBC UBB UBA52 RPS27A
21
Show member pathways
12.29 UBC UBB UBA52 RPS27A
22
Show member pathways
12.29 UBC UBB UBA52 RPS27A
23
Show member pathways
12.28 UBC UBB UBA52 RPS27A
24
Show member pathways
12.27 UBC UBB UBA52 RPS27A
25
Show member pathways
12.25 UBC UBB UBA52 RPS27A
26
Show member pathways
12.23 UBC UBB UBA52 RPS27A
27
Show member pathways
12.11 UBC UBB UBA52 RPS27A
28
Show member pathways
12.06 UBC UBB UBA52 RPS27A
29
Show member pathways
12.02 GYS2 GYS1 GYG2 GYG1 GBE1
30
Show member pathways
12 UBC UBB UBA52 RPS27A
31
Show member pathways
11.98 UBC UBB UBA52 RPS27A PPP1R3C NHLRC1
32
Show member pathways
11.96 UBC UBB UBA52 RPS27A
33
Show member pathways
11.95 UBC UBB UBA52 RPS27A
34
Show member pathways
11.94 PPP1R3C GYS2 GYS1
35
Show member pathways
11.9 UBC UBB UBA52
36 11.88 UBC UBB UBA52 RPS27A
37 11.87 UBC UBB UBA52
38
Show member pathways
11.87 UBC UBB UBA52 RPS27A
39
Show member pathways
11.86 UBC UBB UBA52 RPS27A
40
Show member pathways
11.82 UBC UBB UBA52 RPS27A
41
Show member pathways
11.76 UBC UBB UBA52 RPS27A
42
Show member pathways
11.74 UBC UBB UBA52 RPS27A
43
Show member pathways
11.71 UBC UBB UBA52 RPS27A
44
Show member pathways
11.67 UBC UBB UBA52 RPS27A
45
Show member pathways
11.62 UBC UBB UBA52 RPS27A PPP1R3C GYS2
46 11.58 UBC UBB UBA52
47
Show member pathways
11.58 UBC UBB UBA52
48 11.49 UBC UBB UBA52
49 11.48 UBC UBB UBA52 RPS27A
50
Show member pathways
11.46 UBC UBB UBA52 RPS27A PRKN

GO Terms for Myoclonic Epilepsy of Lafora

Cellular components related to Myoclonic Epilepsy of Lafora according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.13 UBC UBB UBA52 RPS27A PRKN NFU1
2 endosome membrane GO:0010008 9.71 UBC UBB UBA52 RPS27A
3 mitochondrial outer membrane GO:0005741 9.67 UBC UBB UBA52 RPS27A
4 vesicle GO:0031982 9.62 UBC UBB UBA52 RPS27A
5 cytosol GO:0005829 9.53 UBC UBB UBA52 RPS27A PRKN PPP1R3C
6 endocytic vesicle membrane GO:0030666 9.46 UBC UBB UBA52 RPS27A
7 host cell GO:0043657 9.26 UBC UBB UBA52 RPS27A

Biological processes related to Myoclonic Epilepsy of Lafora according to GeneCards Suite gene sharing:

(show top 50) (show all 51)
# Name GO ID Score Top Affiliating Genes
1 protein ubiquitination GO:0016567 10.17 UBC UBB UBA52 RPS27A PRKN NHLRC1
2 negative regulation of apoptotic process GO:0043066 10.1 UBC UBB UBA52 RPS27A CLN3
3 protein deubiquitination GO:0016579 10.09 UBC UBB UBA52 RPS27A PRKN
4 protein polyubiquitination GO:0000209 10.08 UBC UBB UBA52 RPS27A PRKN NHLRC1
5 cellular protein metabolic process GO:0044267 10.07 UBC UBB UBA52 RPS27A PRKN
6 Wnt signaling pathway GO:0016055 10.07 UBC UBB UBA52 RPS27A EPM2A
7 membrane organization GO:0061024 10.02 UBC UBB UBA52 RPS27A CLN3
8 cytokine-mediated signaling pathway GO:0019221 10.01 UBC UBB UBA52 RPS27A
9 dephosphorylation GO:0016311 10 EPM2A DUSP19 DUSP13 CDKN3
10 positive regulation of NF-kappaB transcription factor activity GO:0051092 10 UBC UBB UBA52 RPS27A
11 protein dephosphorylation GO:0006470 10 PPP1R3C EPM2A DUSP19 DUSP13 CDKN3 ACP1
12 activation of MAPK activity GO:0000187 9.99 UBC UBB UBA52 RPS27A
13 regulation of mRNA stability GO:0043488 9.99 UBC UBB UBA52 RPS27A
14 transforming growth factor beta receptor signaling pathway GO:0007179 9.99 UBC UBB UBA52 RPS27A
15 interleukin-1-mediated signaling pathway GO:0070498 9.98 UBC UBB UBA52 RPS27A
16 peptidyl-tyrosine dephosphorylation GO:0035335 9.98 EPM2A DUSP19 DUSP13 CDKN3 ACP1
17 anaphase-promoting complex-dependent catabolic process GO:0031145 9.97 UBC UBB UBA52 RPS27A
18 endosomal transport GO:0016197 9.97 UBC UBB UBA52 RPS27A
19 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.96 UBC UBB UBA52 RPS27A
20 transcription-coupled nucleotide-excision repair GO:0006283 9.96 UBC UBB UBA52 RPS27A
21 regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061418 9.95 UBC UBB UBA52 RPS27A
22 I-kappaB kinase/NF-kappaB signaling GO:0007249 9.95 UBC UBB UBA52 RPS27A
23 protein targeting to peroxisome GO:0006625 9.94 UBC UBB UBA52 RPS27A
24 JNK cascade GO:0007254 9.94 UBC UBB UBA52 RPS27A
25 intracellular transport of virus GO:0075733 9.93 UBC UBB UBA52 RPS27A
26 interstrand cross-link repair GO:0036297 9.93 UBC UBB UBA52 RPS27A
27 DNA damage response, detection of DNA damage GO:0042769 9.92 UBC UBB UBA52 RPS27A
28 nucleotide-excision repair, DNA incision GO:0033683 9.91 UBC UBB UBA52 RPS27A
29 nucleotide-excision repair, DNA incision, 5'-to lesion GO:0006296 9.9 UBC UBB UBA52 RPS27A
30 translesion synthesis GO:0019985 9.89 UBC UBB UBA52 RPS27A
31 MyD88-dependent toll-like receptor signaling pathway GO:0002755 9.88 UBC UBB UBA52 RPS27A
32 viral life cycle GO:0019058 9.87 UBC UBB UBA52 RPS27A
33 TRIF-dependent toll-like receptor signaling pathway GO:0035666 9.86 UBC UBB UBA52 RPS27A
34 nucleotide-excision repair, preincision complex assembly GO:0006294 9.85 UBC UBB UBA52 RPS27A
35 regulation of protein ubiquitination GO:0031396 9.84 PRKN NHLRC1 EPM2A
36 stress-activated MAPK cascade GO:0051403 9.84 UBC UBB UBA52 RPS27A
37 global genome nucleotide-excision repair GO:0070911 9.81 UBC UBB UBA52 RPS27A
38 nucleotide-excision repair, DNA gap filling GO:0006297 9.8 UBC UBB UBA52 RPS27A
39 nucleotide-excision repair, DNA damage recognition GO:0000715 9.78 UBC UBB UBA52 RPS27A
40 nucleotide-binding oligomerization domain containing signaling pathway GO:0070423 9.76 UBC UBB UBA52 RPS27A
41 nucleotide-excision repair, DNA duplex unwinding GO:0000717 9.73 UBC UBB UBA52 RPS27A
42 regulation of proteasomal protein catabolic process GO:0061136 9.71 UBB EPM2A
43 regulation of protein localization to plasma membrane GO:1903076 9.71 NHLRC1 EPM2A
44 error-free translesion synthesis GO:0070987 9.71 UBC UBB UBA52 RPS27A
45 cellular macromolecule metabolic process GO:0044260 9.68 NHLRC1 EPM2A
46 error-prone translesion synthesis GO:0042276 9.67 UBC UBB UBA52 RPS27A
47 MyD88-independent toll-like receptor signaling pathway GO:0002756 9.62 UBC UBB UBA52 RPS27A
48 virion assembly GO:0019068 9.56 UBC UBB UBA52 RPS27A
49 glycogen metabolic process GO:0005977 9.55 PPP1R3C NHLRC1 GYS1 GBE1 EPM2A
50 modification-dependent protein catabolic process GO:0019941 9.26 UBC UBB UBA52 RPS27A

Molecular functions related to Myoclonic Epilepsy of Lafora according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.45 UBC UBB UBA52 RPS27A PRKN PPP1R3C
2 ubiquitin protein ligase binding GO:0031625 9.85 UBC UBB UBA52 RPS27A PRKN
3 phosphatase activity GO:0016791 9.78 EPM2A DUSP19 DUSP13 CDKN3
4 transferase activity, transferring glycosyl groups GO:0016757 9.72 GYS2 GYS1 GYG2 GYG1 GBE1
5 phosphoprotein phosphatase activity GO:0004721 9.71 EPM2A CDKN3 ACP1
6 protein serine/threonine phosphatase activity GO:0004722 9.69 PPP1R3C EPM2A CDKN3
7 protein tyrosine/serine/threonine phosphatase activity GO:0008138 9.56 EPM2A DUSP19 DUSP13 CDKN3
8 protein tyrosine phosphatase activity GO:0004725 9.55 EPM2A DUSP19 DUSP13 CDKN3 ACP1
9 glycogen binding GO:2001069 9.49 PPP1R3C EPM2A
10 UDP-alpha-D-glucose:glucosyl-glycogenin alpha-D-glucosyltransferase activity GO:0102751 9.43 GYG2 GYG1
11 glycogen synthase activity, transferring glucose-1-phosphate GO:0061547 9.4 GYS2 GYS1
12 glycogenin glucosyltransferase activity GO:0008466 9.37 GYG2 GYG1
13 glycogen (starch) synthase activity GO:0004373 9.13 GYS2 GYS1 EPM2A
14 protein tag GO:0031386 8.92 UBC UBB UBA52 RPS27A

Sources for Myoclonic Epilepsy of Lafora

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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