MCID: PRG011
MIFTS: 38

Progressive Myoclonus Epilepsy malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Progressive Myoclonus Epilepsy

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Aliases & Descriptions for Progressive Myoclonus Epilepsy:

Name: Progressive Myoclonus Epilepsy 10 12
Familial Progressive Myoclonic Epilepsy 45 65
Progressive Myoclonic Epilepsy 10 45
 
Myoclonic Epilepsies, Progressive 65
Unverricht-Lundborg Syndrome 65
Pme 10

Classifications:



External Ids:

Disease Ontology10 DOID:891
MeSH36 D020191
NCIt42 C7636
UMLS65 C0751778

Summaries for Progressive Myoclonus Epilepsy

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NIH Rare Diseases:45 Progressive myoclonus epilepsy (pme) refers to a group of inherited conditions involving the central nervous system and representing more than a dozen different diseases. these diseases share certain features, including a worsening of symptoms over time and the presence of both muscle contractions (myoclonus) and seizures (epilepsy). pme is different from myoclonic epilepsy. other features include dementia, dystonia, and trouble walking or speaking. these rare disorders often get worse over time and sometimes are fatal. many of these pme diseases begin in childhood or adolescence. last updated: 5/19/2011

MalaCards based summary: Progressive Myoclonus Epilepsy, also known as familial progressive myoclonic epilepsy, is related to prickle1-related progressive myoclonus epilepsy with ataxia and progressive myoclonus epilepsy, lafora type. An important gene associated with Progressive Myoclonus Epilepsy is PRICKLE1 (Prickle Planar Cell Polarity Protein 1), and among its related pathways is Glycogen storage diseases. Affiliated tissues include t cells, lung and skeletal muscle, and related mouse phenotypes are muscle and nervous system.

Wikipedia:68 Progressive myoclonus epilepsy (PME) is a rare epilepsy syndrome caused by a variety of genetic... more...

Related Diseases for Progressive Myoclonus Epilepsy

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Diseases in the Myoclonus Epilepsy family:

progressive myoclonus epilepsy

Diseases related to Progressive Myoclonus Epilepsy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 182)
idRelated DiseaseScoreTop Affiliating Genes
1prickle1-related progressive myoclonus epilepsy with ataxia12.8
2progressive myoclonus epilepsy, lafora type12.8
3unverricht-lundborg syndrome12.1
4gosr2-related progressive myoclonus ataxia11.8
5epilepsy, progressive myoclonic 2b11.8
6epilepsy, progressive myoclonic 511.6
7epilepsy, progressive myoclonic 1a11.6
8spinal muscular atrophy with progressive myoclonic epilepsy11.6
9epilepsy, progressive myoclonic 3, with or without intracellular inclusions11.5
10epilepsy, progressive myoclonic 711.5
11epilepsy, progressive myoclonic 1b11.5
12epilepsy, progressive myoclonic, 811.5
13epilepsy progressive myoclonic type 311.5
14epm2a-related lafora disease11.5
15nhlrc1-related lafora disease11.5
16progressive myoclonic epilepsy with dystonia11.5
17leukemia10.5
18breast cancer10.4
19prostatitis10.4
20epilepsy, progressive myoclonic 1010.4
21prostate cancer10.3
22myeloid leukemia10.3
23hiv-110.2
24hepatitis10.2
25lymphoma10.2
26cervicitis10.2
27adenocarcinoma10.2
28cerebritis10.2
29retinitis10.2
30pancreatitis10.2
31thyroiditis10.2
32neuronitis10.2
33periarteritis nodosa10.2
34prothrombin-related thrombophilia10.2EPM2A, NHLRC1
35cystic lymphangioma10.1CSTB, EPM2A
36schizophrenia10.1
37rheumatoid arthritis10.1
38neuroblastoma10.1
39myocardial infarction10.1
40synesthesia10.1
41obesity10.1
42hodgkin lymphoma10.1
43aplastic anemia10.1
44attention deficit-hyperactivity disorder10.1
45cystic fibrosis10.1
46long qt syndrome 210.1
47otitis media10.1
48anorexia nervosa10.1
49keratitis10.1
50multiple myeloma10.1

Graphical network of the top 20 diseases related to Progressive Myoclonus Epilepsy:



Diseases related to progressive myoclonus epilepsy

Symptoms for Progressive Myoclonus Epilepsy

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Drugs & Therapeutics for Progressive Myoclonus Epilepsy

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Drugs for Progressive Myoclonus Epilepsy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Cysteamineapproved, investigationalPhase 2, Phase 32360-23-16058
Synonyms:
(2-Mercaptoethyl)amine
(Mercaptoethyl)ammonium toluene-p-sulphonate
.beta.-Mercaptoethylamine
1-Amino-2-mercaptoethylamine
139720-70-0
156-57-0 (hydrochloride)
16904-32-8 (di-hydrochloride)
2-AMINO-ETHANETHIOL
2-AMINO-ethanethiol
2-Amino-1-ethanethiol
2-Aminoethanethiol
2-Aminoethyl mercaptan
2-Mercaptoethanamine
2-Mercaptoethylamine
2-Mercaptoethylamine, polymer-bound
27761-19-9 (tartrate (1:1))
2DFDA1F8-7010-4225-8280-AB1C4C43F546
30070_FLUKA
30070_SIGMA
3037-04-5
3037-04-5 (tosylate)
42954-15-4 (hydrobromide)
60-23-1
60-23-1 (Parent)
641022_ALDRICH
93965-19-6 (maleate (1:1))
A0648
AC1L1LPL
AC1Q54NL
AKOS003793343
Aminoethyl mercaptan
Becaptan
C-9500
C01678
C2H7NS
CASH
CCRIS 3083
CHEBI:17141
CHEMBL602
CID6058
CYSTEAMINE
Cisteamina
Cisteamina [Italian]
Cystagon
Cystaran
Cystavision
Cysteamide
Cysteamin
Cysteamine
Cysteamine (USAN)
Cysteamine Bitartrate
Cysteamine Hydrochloride
Cysteamine [USAN:BAN]
Cysteamine bitartate
Cysteamine hydrochloride
Cysteaminium
Cysteinamine
D03634
DB00847
 
Decarboxycysteine
DivK1c_006750
EINECS 200-463-0
EINECS 221-235-7
Ethanethiolamine
HSDB 7353
KBio1_001694
KBio2_002235
KBio2_004803
KBio2_007371
KBioSS_002235
L 1573
L-1573
LS-65761
Lambraten
Lambratene
Lopac-M-6500
M9768_ALDRICH
M9768_SIGMA
MEA
MEA (mercaptan)
Mecramine
Mercamin
Mercamine
Mercaptamin
Mercaptamina
Mercaptamina [INN-Spanish]
Mercaptamine
Mercaptamine (INN)
Mercaptaminum
Mercaptaminum [INN-Latin]
Mercaptoethylamine
Merkamin
MolPort-001-662-635
NCGC00015691-01
NCGC00015691-04
NCGC00162236-01
NCI60_002000
NSC 647528
NSC647528
Riacon
STK315355
SpecPlus_000654
Spectrum_001755
Thioethanolamine
UNII-5UX2SD1KE2
WR 347
b-Aminoethanethiol
b-Aminoethylthiol
b-Mercaptoethylamine
beta-Aminoethanethiol
beta-Aminoethylthiol
beta-MEA
beta-Mercaptoethylamine
bmse000388
cysteamine bitartrate
nchembio.315-comp1
nchembio.316-comp1
β-MEA
β-aminoethylthiol
2
DopamineapprovedPhase 2308462-31-7, 51-61-6681
Synonyms:
(3H)-Dopamine
.Beta.-(3,4-Dihydroxyphenyl)ethylamine hydrochloride
.alpha.-(3,4-Dihydroxyphenyl)-.beta.-aminoethane
1,2-Benzenediol, 4-(2-aminoethyl)- (9CI)
1,2-Benzenediol, 4-(2-aminoethyl)-, hydrochloride
1,2-Benzenediol, 4-(2-aminoethyl)-, labeled with tritium
153C5321-5FEE-4B0B-8925-F388F0EEEBD1
2-(3,4-Dihydroxyphenyl)ethylamine
2-(3,4-dihydroxyphenyl)ethylamine
2-benzenediol
3,4-Dihydroxyphenethylamine
3,4-Dihydroxyphenethylamine hydrochloride
3,4-Dihydroxyphenylethylamine
3,4-dihydroxyphenethylamine
3-Hydroxtyramine
3-Hydroxytyramine
3-Hydroxytyramine Hydrobromide
3-Hydroxytyramine hydrochloride
4-(2-Aminoethyl)-1,
4-(2-Aminoethyl)-1,2-benzenediol
4-(2-Aminoethyl)-1,2-bezenediol
4-(2-Aminoethyl)-Pyrocatechol
4-(2-Aminoethyl)benzene-1,2-diol
4-(2-Aminoethyl)catechol
4-(2-Aminoethyl)pyrocatechol
4-(2-Aminoethyl)pyrocatechol hydrochloride
4-(2-aminoethyl)-pyrocatechol
50444-17-2
51-61-6
62-31-7 (HYDROCHLORIDE)
AC1L19S5
AC1Q54AX
AC1Q54AY
AKOS003790978
ASL 279
BIDD:ER0506
BPBio1_001123
BSPBio_001932
Biomol-NT_000001
C03758
CHEBI:18243
CHEMBL59
CID681
D07870
DB00988
Deoxyepinephrine
DivK1c_000780
Dopamin
Dopamina
Dopamina [INN-Spanish]
Dopamine
Dopamine (INN)
Dopamine (USAN)(*hydrochloride*)
Dopamine Hcl
Dopamine Hydrochloride
Dopamine [INN:BAN]
Dopaminum
Dopaminum [INN-Latin]
Dopastat
Dophamine
Dynatra
EINECS 200-110-0
HSDB 3068
Hydroxytyramin
Hydroxytyramine
IDI1_000780
IP 498
Intropin
Intropin [*hydrochloride*]
 
KBio1_000780
KBio2_001492
KBio2_002388
KBio2_002484
KBio2_004060
KBio2_004956
KBio2_005052
KBio2_006628
KBio2_007524
KBio2_007620
KBio3_001152
KBio3_002867
KBio3_002962
KBioGR_001129
KBioGR_002388
KBioGR_002484
KBioSS_001492
KBioSS_002393
KBioSS_002491
KW-3-060
L-DOPAMINE
L000232
LDP
LS-159
Lopac-H-8502
Lopac0_000586
Medopa (TN)
MolPort-001-641-000
NCGC00015519-01
NCGC00015519-08
NCGC00096050-01
NCGC00096050-02
NCGC00096050-03
NCGC00096050-04
NCGC00096050-05
NINDS_000780
NSC 173182
NSC169105
NSC173182
Oprea1_088821
Oxytyramine
Pyrocatechol, 4-(2-aminoethyl)- (8CI)
Pyrocatechol, 4-(2-aminoethyl)-, hydrochloride
Revimine
Revivan
SPBio_001205
SPECTRUM1505155
ST048774
STK301601
Spectrum2_001023
Spectrum3_000406
Spectrum4_000525
Spectrum5_000945
Spectrum_001012
UNII-VTD58H1Z2X
UPCMLD0ENAT5885989:001
a-(3,4-Dihydroxyphenyl)-b-aminoethane
alpha-(3,4-Dihydroxyphenyl)-beta-aminoethane
cMAP_000036
cMAP_000065
dopamine
hydroxytyramine
intropin
m-Hydroxytyramine hydrochloride
nchembio.105-comp9
nchembio.107-comp4
nchembio.284-comp1
nchembio.78-comp16
nchembio.89-comp3
nchembio705-8
nchembio801-comp8
3
Ropiniroleapproved, investigationalPhase 27291374-20-8, 91374-21-95095, 497540
Synonyms:
1,3-Dihydro-4-(2-(dipropylamino)ethyl)-2H-indol-2-one monohydrochloride
2(H)-Indol-2-one, 4-(2-(dipropylamino)ethyl)-1,3-dihydro-, monohydrochloride
2H-Indol-2-one, 1,3-dihydro-4-(2-(dipropylamino)ethyl)-, monohydrochloride
2H-Indol-2-one, 4-[2-(dipropylamino)ethyl]-1,3-dihydro-, hydrochloride (1:1)
4-(2-(Dipropylamino)ethyl)-2-indolinone monohydrochloride
4-[2-(Dipropylamino)ethyl]-1,3-dihydro-2H-indol-2-one
4-[2-(Dipropylamino)ethyl]indoline-2-one
4-[2-(dipropylamino)ethyl]-1,3-dihydro-2H-indol-2-one hydrochloride
4-[2-(dipropylamino)ethyl]-1,3-dihydroindol-2-one
4-[2-(dipropylamino)ethyl]-1,3-dihydroindol-2-one hydrochloride
91374-20-8
91374-20-8 (hydrochloride)
91374-21-9
91374-21-9 (Parent)
AB1004799
AC-735
AC1L1JLL
AC1L2ABS
AC1Q3EQJ
AR-1L3132
Adartrel
BIDD:GT0826
BRD-K15933101-003-01-2
C07564
CHEBI:8888
CHEMBL1200411
CHEMBL589
CID5095
CID68727
D00784
D08489
DB00268
EU-0101101
HMS2093K04
I06-0692
I06-0693
JZP-7
L000520
LS-83828
LS-83890
Lopac-R-4152
Lopac0_001101
MolPort-003-666-598
MolPort-003-987-439
NCGC00015893-01
NCGC00015893-04
 
NCGC00094373-01
NCGC00096064-01
NCGC00096064-02
NVD-434
R 4152
ReQuip
ReQuip CR
ReQuip LP
ReQuip XL
ReQuip XR
Repreve
Requip
Requip (TN)
Requip XL
Ropinirol
Ropinirol [INN-Spanish]
Ropinirole
Ropinirole (INN)
Ropinirole 12 mg
Ropinirole 2 mg
Ropinirole 4 mg
Ropinirole 6 mg
Ropinirole 8 mg
Ropinirole HCl
Ropinirole Hydrochloride
Ropinirole [INN:BAN]
Ropinirole hydrochloride
Ropinirole hydrochloride (JAN/USAN)
Ropinirole hydrochloride [USAN]
Ropinirolum
Ropinirolum [INN-Latin]
Ropitor
Ropitor (TN)
SK&F 101468
SK&F 101468-A
SK&F-101,468
SK&F-101468-A
SK&F-101468A
SKF 101468
SKF 101468-A
SPECTRUM1505178
ST51051236
TL8005858
TL8005859
UNII-030PYR8953
UNII-D7ZD41RZI9
ropinirol
4Neurotransmitter AgentsPhase 214795
5Dopamine AgonistsPhase 2544
6Dopamine AgentsPhase 23084
7Antiparkinson AgentsPhase 21312
8Insulin, Globin Zinc4278
9insulin4278

Interventional clinical trials:

idNameStatusNCT IDPhase
1Brivaracetam as add-on Treatment of Unverricht-Lundborg Disease (ULD) in Adolescents and AdultsCompletedNCT00368251Phase 3
2Brivaracetam as add-on Treatment of Unverricht-Lundborg Disease in Adolescents and AdultsCompletedNCT00357669Phase 3
3Open-Label, Dose-Escalating Study to Assess Safety, Tolerability, Efficacy, PK and PD of RP103 in Children With Inherited Mitochondrial DiseaseEnrolling by invitationNCT02023866Phase 2, Phase 3
4Effect of Ropinirole Hydrochloride in Progressive Myoclonic Epilepsy of Unverricht-Lundborg TypeEnrolling by invitationNCT00639119Phase 2
5A Long-Term Extension Study of RP103-MITO-001 to Assess RP103 in Children With Inherited Mitochondrial DiseaseEnrolling by invitationNCT02473445Phase 2
6Clinical and Genetic Studies of Familial Presenile Dementia With Neuronal Inclusion BodiesCompletedNCT00006176
7Ketogenic Diet in Lafora DiseaseCompletedNCT00007124
8Mitochondrial nt3243 A>G Mutation in TaiwanRecruitingNCT02114554

Search NIH Clinical Center for Progressive Myoclonus Epilepsy

Genetic Tests for Progressive Myoclonus Epilepsy

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Anatomical Context for Progressive Myoclonus Epilepsy

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MalaCards organs/tissues related to Progressive Myoclonus Epilepsy:

33
T cells, Lung, Skeletal muscle, Breast, Thyroid, Liver, Endothelial

Animal Models for Progressive Myoclonus Epilepsy or affiliated genes

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MGI Mouse Phenotypes related to Progressive Myoclonus Epilepsy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.5CSTB, EPM2A, EPM2AIP1, GBE1, NHLRC1, PRICKLE1
2MP:00036316.9CLN6, CSTB, EPM2A, GBE1, NHLRC1, PRDM8
3MP:00053866.5CLN6, CSTB, EPM2A, EPM2AIP1, GOSR2, NHLRC1

Publications for Progressive Myoclonus Epilepsy

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Articles related to Progressive Myoclonus Epilepsy:

(show top 50)    (show all 202)
idTitleAuthorsYear
1
Unique microRNAs in lung adenocarcinoma groups according to major TKI sensitive EGFR mutation status. (26170125)
2015
2
Circulating Fibrocytes as Biomarker of Prognosis in Hermansky-Pudlak Syndrome. (25347450)
2014
3
Bodyweight in Patients with Idiopathic Gastroparesis: Roles of Symptoms, Caloric Intake, Physical Activity, and Body Metabolism. (24286121)
2013
4
Three-Dimensional Telomere Dynamics in Follicular Thyroid Cancer. (23819464)
2013
5
Sternocleidomastoid muscular flap: treatment of persistent cerebrospinal fluid leak after anterior cervical spine surgery. (22643186)
2013
6
Expression of myeloperoxidase in swine influenza virus (SIV)-infected neutrophils in lungs from pigs experimentally infected with SIV subtype H1N2. (21688042)
2011
7
Insufficient and incomplete shaving in chronic venous leg ulcers leads to a poor prognosis of the skin graft: a histomorphological analysis. (21893960)
2011
8
Post-transcriptional regulation of Transforming Growth Factor Beta-1 by microRNA-744. (21991303)
2011
9
Skeletal muscle weakness in osteogenesis imperfecta mice. (20619344)
2010
10
Subjects with early-onset type 2 diabetes show defective activation of the skeletal muscle PGC-1{alpha}/Mitofusin-2 regulatory pathway in response to physical activity. (20032281)
2010
11
PAX5 expression in nonhematopoietic tissues. Reappraisal of previous studies. (20154279)
2010
12
Tongue protrusion and feeding dystonia: a hallmark of chorea-acanthocytosis. (19938148)
2010
13
New and emerging agents in the management of lipodystrophy in HIV-infected patients. (22096395)
2010
14
IL-1 receptor antagonist gene polymorphism in idiopathic recurrent spontaneous abortion in a Chinese Han population. (21182747)
2010
15
Clinical significance and changes of serum visfatin, adiponectin and leptin levels in patients with polycystic ovarian syndrome]. (19197132)
2009
16
Guidelines for pathologic diagnosis of malignant mesothelioma: a consensus statement from the International Mesothelioma Interest Group. (19653732)
2009
17
Compound K, intestinal metabolite of ginsenoside, attenuates hepatic lipid accumulation via AMPK activation in human hepatoma cells. (19182950)
2009
18
The pathophysiology of pre-eclampsia: current clinical concepts. (19757258)
2009
19
Multiple KCNQ potassium channel subtypes mediate basal anion secretion from the human airway epithelial cell line Calu-3. (18264812)
2008
20
Delivery of single-chain antibodies (scFvs) directed against the 37/67 kDa laminin receptor into mice via recombinant adeno-associated viral vectors for prion disease gene therapy. (18632978)
2008
21
Search for Fanconi anemia/BRCA pathway defects in lymphoma cell lines]. (18841560)
2008
22
Etiology, detection, and management of fetal macrosomia in pregnancies complicated by diabetes mellitus. (17982341)
2007
23
Reversal of expression of 15-lipoxygenase-1 to cyclooxygenase-2 is associated with development of colonic cancer. (17711445)
2007
24
The metabolic syndrome is frequent in Klinefelter's syndrome and is associated with abdominal obesity and hypogonadism. (16801584)
2006
25
Oxidative stress-responsive intracellular regulation specific for the angiostatic form of human tryptophanyl-tRNA synthetase. (15628863)
2005
26
Bromodomain analysis of Brd2-dependent transcriptional activation of cyclin A. (15548137)
2005
27
Renal tubular dysgenesis with hypoplastic calvaria: report of two cases. (15517826)
2004
28
Structural analysis of Siah1 and its interactions with Siah- interacting protein (SIP). (12421809)
2003
29
Early cell evolution, eukaryotes, anoxia, sulfide, oxygen, fungi first (?), and a tree of genomes revisited. (12880199)
2003
30
Radiofrequency ablation of incessant orthodromic tachycardia in a young child with a univentricular heart. (14989521)
2003
31
An unusual renal angiomyolipoma with morphological lymphangioleiomyomatosis features and coexpression of oestrogen and progesterone receptors. (11942568)
2002
32
Inherited disorders of the gonadotropin hormones. (11420133)
2001
33
No complement receptor 1 stumps on podocytes in human glomerulopathies. (11135068)
2001
34
A literature review and pilot study to characterise the treatment of burning mouth syndrome. (11692831)
2001
35
Copper amine oxidase: cunning cofactor and controversial copper. (11751046)
2001
36
Effect of extracellular signal-regulated kinase on p53 accumulation in response to cisplatin. (10958792)
2000
37
Syndrome of apparent mineralocorticoid excess caused by a deficiency of 11 beta-hydroxysteroid dehydrogenase: clinical and genetic study in a Chilean family followed for 19 years]. (10883518)
2000
38
Ketoconazole treatment of gonadotropin independent precocious puberty in girls with McCune-Albright syndrome: a preliminary report. (10392352)
1999
39
Stimulation of collagen synthesis by the anabolic steroid stanozolol. (9856839)
1998
40
Seroepidemiology of abdominal angiostrongyliasis: the standardization of an immunoenzymatic assay and prevalence of antibodies in two localities in southern Brazil. (9491104)
1997
41
Improvement in rheumatoid arthritis following application of an extracorporeal granulotrap column, G-1. (8717100)
1996
42
Genetic steps in colorectal cancer]. (8920676)
1996
43
Isolation and mapping of a novel human gene encoding a protein containing zinc-finger structures. (8838321)
1996
44
Hereditary multiple intestinal atresia--ultrasound findings and outcome of pregnancy in an affected case. (8183838)
1994
45
The mechanisms of inactivation of sulfite oxidase by periodate and arsenite. (1653244)
1991
46
Severe giardiasis in two patients undergoing bone marrow transplantation. (2819289)
1989
47
The Fryns syndrome: diaphragmatic defects, craniofacial dysmorphism, and distal digital hypoplasia. Further evidence for autosomal recessive inheritance. (4075561)
1985
48
Partial amino acid sequence of a human seminal plasma peptide with inhibin-like activity. (6698208)
1984
49
Keratoacanthoma of nailbed: a report of two cases. (4704160)
1973
50
Development of pigmentary cirrhosis in Cooley's anemia. (13039690)
1953

Variations for Progressive Myoclonus Epilepsy

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Expression for genes affiliated with Progressive Myoclonus Epilepsy

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Search GEO for disease gene expression data for Progressive Myoclonus Epilepsy.

Pathways for genes affiliated with Progressive Myoclonus Epilepsy

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Pathways related to Progressive Myoclonus Epilepsy according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.9EPM2A, NHLRC1

GO Terms for genes affiliated with Progressive Myoclonus Epilepsy

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Biological processes related to Progressive Myoclonus Epilepsy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1glycogen biosynthetic processGO:000597810.1EPM2A, NHLRC1
2positive regulation of protein ubiquitinationGO:003139810.0NHLRC1, PRICKLE1
3COPII vesicle coatingGO:00482089.6GOSR2, TRAPPC10
4autophagyGO:00069149.6EPM2A, NHLRC1
5glucose metabolic processGO:00060069.4EPM2A, GBE1, NHLRC1

Sources for Progressive Myoclonus Epilepsy

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet