MCID: DNT016
MIFTS: 48

Dentatorubro-Pallidoluysian Atrophy malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases

Aliases & Classifications for Dentatorubro-Pallidoluysian Atrophy

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Aliases & Descriptions for Dentatorubro-Pallidoluysian Atrophy:

Name: Dentatorubro-Pallidoluysian Atrophy 51 12
Dentatorubral-Pallidoluysian Atrophy 51 11 23 47 24 25 69 13 67
Drpla 11 23 47 24 25 53 69 49
Naito-Oyanagi Disease 11 24 25 53
Haw River Syndrome 11 47 25
Myoclonic Epilepsy with Choreoathetosis 47 25
 
Dentatorubral Pallidoluysian Atrophy 53 26
Dentatorubropallidoluysian Atrophy 47 53
Nod 47 25
Ataxia, Chorea, Seizures, and Dementia 47
Myoclonic Epilepsies, Progressive 38
Naito Oyanagi Disease 47

Characteristics:

Orphanet epidemiological data:

53
drpla:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Japan); Age of onset: All ages

HPO:

63
dentatorubro-pallidoluysian atrophy:
Inheritance: autosomal dominant inheritance, genetic anticipation

GeneReviews:

23
Penetrance: expanded alleles are fully penetrant except for one individual with a mildly expanded number of cag repeats (51 repeats) who was asmptomatic at age 81 years [hattori et al 1999]...


Classifications:



External Ids:

OMIM51 125370
Disease Ontology11 DOID:0060162
MeSH38 D020191
Orphanet53 ORPHA101
UMLS via Orphanet68 C0751781
ICD10 via Orphanet30 G11.8
UMLS67 C0751776, C0751777, C0751778 C0751779, C0751780, C0751781, C0751782, more

Summaries for Dentatorubro-Pallidoluysian Atrophy

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NIH Rare Diseases:47 Dentatorubral-pallidoluysian atrophy (DRPLA) is a progressive brain disorder that causes involuntary movements; mental and emotional problems; and a decline in thinking ability. The average age of onset of DRPLA is 30 years, but the condition can appear anytime from infancy to mid-adulthood. Specific signs and symptoms may differ among affected individuals and sometimes affects children and adults differently. DRPLA is caused by a mutation in the ATN1 gene and is inherited in an autosomal dominant manner. Treatment is symptomatic and supportive. Last updated: 9/5/2012

MalaCards based summary: Dentatorubro-Pallidoluysian Atrophy, also known as dentatorubral-pallidoluysian atrophy, is related to epilepsy, progressive myoclonic 1a and ataxia, and has symptoms including atrophy of the dentate nucleus, fetal cystic hygroma and ataxia. An important gene associated with Dentatorubro-Pallidoluysian Atrophy is ATN1 (Atrophin 1), and among its related pathways are Chks in Checkpoint Regulation and Akt Signaling. Affiliated tissues include brain, and related mouse phenotypes are homeostasis/metabolism and growth/size/body region.

Disease Ontology:11 An autosomal dominant cerebellar ataxia that has material basis in expansion of CAG triplet repeats (glutamine) encoding a polyglutamine tract in the atrophin-1 protein.

UniProtKB/Swiss-Prot:69 Dentatorubral-pallidoluysian atrophy: Autosomal dominant neurodegenerative disorder characterized by a loss of neurons in the dentate nucleus, rubrum, glogus pallidus and Luys'body. Clinical features are myoclonus epilepsy, dementia, and cerebellar ataxia. Onset of the disease occurs usually in the second decade of life and death in the fourth.

Genetics Home Reference:25 Dentatorubral-pallidoluysian atrophy, commonly known as DRPLA, is a progressive brain disorder that causes involuntary movements, mental and emotional problems, and a decline in thinking ability. The average age of onset of DRPLA is 30 years, but this condition can appear anytime from infancy to mid-adulthood.

Description from OMIM:51 125370

GeneReviews for NBK1491

Related Diseases for Dentatorubro-Pallidoluysian Atrophy

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Diseases related to Dentatorubro-Pallidoluysian Atrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 30)
idRelated DiseaseScoreTop Affiliating Genes
1epilepsy, progressive myoclonic 1a10.8
2ataxia10.2
3microcephaly10.1
4epilepsy10.1
5cerebritis10.1
6neuronitis10.1
7myoclonus epilepsy10.1
8myoclonus10.1
9rigidity and multifocal seizure syndrome, lethal neonatal10.1JPH3, TBP
10machado-joseph disease9.9
11mednik syndrome9.9ATXN3, ATXN7, CACNA1A
12basilar impression, primary9.9ATXN1, ATXN3
13schistosoma mansoni infection, susceptibility/9.9ATXN3, CACNA1A, PPP2R2B
14hypocalcemia, autosomal dominant 29.9ATXN3, ATXN7, CACNA1A
15miller fisher syndrome9.9ATXN3, JPH3, TBP
16hypogonadotropic hypogonadism 3 with or without anosmia9.9ATXN2, PPP2R2B
17lissencephaly 6, with microcephaly9.8ATXN3, ATXN7, CACNA1A
18osteopathia striata with cranial sclerosis9.7ATXN1, ATXN3, ATXN7
19parkinson disease, late-onset9.6ATXN2, ATXN3, TBP
20spinocerebellar ataxia 79.6ATXN2, ATXN7
21celiac disease 139.4ATXN2, ATXN3, ATXN7, CACNA1A
22tremor, hereditary essential, 39.2ATN1, ATXN1, ATXN3, ATXN7, CACNA1A
23mucopolysaccharidosis ih9.2ATN1, ATXN1, ATXN3, JPH3, TBP
24hereditary spastic paraplegia8.9ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A
25necatoriasis8.8ATXN2, ATXN3, ATXN7, CACNA1A, PPP2R2B, TBP
26mental retardation, autosomal recessive 328.7ATN1, ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A
27atrial fibrillation and stroke8.7ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A, TBP
28bruck syndrome 28.4ATN1, ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A
29dracunculiasis8.1ATN1, ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A
30okt4 epitope deficiency6.9ATN1, ATXN1, ATXN2, ATXN3, ATXN7, BAIAP2

Graphical network of the top 20 diseases related to Dentatorubro-Pallidoluysian Atrophy:



Diseases related to dentatorubro-pallidoluysian atrophy

Symptoms for Dentatorubro-Pallidoluysian Atrophy

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Symptoms by clinical synopsis from OMIM:

125370

Clinical features from OMIM:

125370

Human phenotypes related to Dentatorubro-Pallidoluysian Atrophy:

 63 (show all 10)
id Description HPO Frequency HPO Source Accession
1 atrophy of the dentate nucleus63 hallmark (90%) HP:0007047
2 fetal cystic hygroma63 hallmark (90%) HP:0010878
3 ataxia63 25% HP:0001251
4 dementia63 14% HP:0000726
5 seizures63 12% HP:0001250
6 nystagmus63 9% HP:0000639
7 chorea63 7% HP:0002072
8 myoclonus63 6% HP:0001336
9 abnormal pyramidal signs63 rare (5%) HP:0007256
10 choreoathetosis63 HP:0001266

UMLS symptoms related to Dentatorubro-Pallidoluysian Atrophy:


ataxia, cerebellar ataxia, myoclonus, seizures, difficulty standing, abnormal coordination, loss of control of walking, equilibration disorder, trendelenburg's symptom, gait deviation

Drugs & Therapeutics for Dentatorubro-Pallidoluysian Atrophy

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Drugs for Dentatorubro-Pallidoluysian Atrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Cysteamineapproved, investigationalPhase 2, Phase 32760-23-16058
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]
Cystavision
Cysteamide
Cysteamin
Cysteamine
Cysteamine (USAN)
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 2375951-61-6, 62-31-7681
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 [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 27391374-20-8, 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 (TN)
Ropinirol
Ropinirol [INN-Spanish]
Ropinirole
Ropinirole (INN)
Ropinirole HCl
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
4Dopamine AgentsPhase 23759
5Neurotransmitter AgentsPhase 217734
6Antiparkinson AgentsPhase 21527
7Dopamine agonistsPhase 2618
8insulin4524
9Insulin, Globin Zinc4523
10Serine Proteinase Inhibitors850
11Neuroserpin3
12HIV Protease Inhibitors5319
13
protease inhibitors5320
Synonyms:
 
protease inhibitors
14serineNutraceutical921

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 TypeUnknown statusNCT00639119Phase 2
5A Long-Term Extension Study of RP103-MITO-001 to Assess RP103 in Children With Inherited Mitochondrial DiseaseEnrolling by invitationNCT02473445Phase 2
6Mitochondrial nt3243 A>G Mutation in TaiwanUnknown statusNCT02114554
7Clinical and Genetic Studies of Familial Presenile Dementia With Neuronal Inclusion BodiesCompletedNCT00006176
8Ketogenic Diet in Lafora DiseaseCompletedNCT00007124
9Genetic Characterization of Movement Disorders and DementiasRecruitingNCT02014246

Search NIH Clinical Center for Dentatorubro-Pallidoluysian Atrophy


Cochrane evidence based reviews: myoclonic epilepsies, progressive

Genetic Tests for Dentatorubro-Pallidoluysian Atrophy

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Genetic tests related to Dentatorubro-Pallidoluysian Atrophy:

id Genetic test Affiliating Genes
1 Dentatorubral Pallidoluysian Atrophy26
2 Drpla24 ATN1

Anatomical Context for Dentatorubro-Pallidoluysian Atrophy

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MalaCards organs/tissues related to Dentatorubro-Pallidoluysian Atrophy:

35
Brain

Animal Models for Dentatorubro-Pallidoluysian Atrophy or affiliated genes

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MGI Mouse Phenotypes related to Dentatorubro-Pallidoluysian Atrophy:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053768.3ATN1, ATXN1, ATXN2, ATXN3, CACNA1A, PPP2R2B
2MP:00053788.2ATN1, ATXN1, ATXN2, ATXN7, CACNA1A, JPH3
3MP:00107687.3ATN1, ATXN1, ATXN2, ATXN7, BAIAP2, CACNA1A
4MP:00053867.0ATN1, ATXN1, ATXN2, ATXN3, ATXN7, BAIAP2
5MP:00036316.2ATN1, ATXN1, ATXN2, ATXN3, ATXN7, BAIAP2

Publications for Dentatorubro-Pallidoluysian Atrophy

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Articles related to Dentatorubro-Pallidoluysian Atrophy:

idTitleAuthorsYear
1
Spinocerebellar ataxias type 8, 12, and 17 and dentatorubro-pallidoluysian atrophy in Czech ataxic patients. (22872568)
2013
2
A severe case of dentatorubro-pallidoluysian atrophy (DRPLA) with microcephaly, very early onset of seizures, and cerebral white matter involvement. (17236112)
2006
3
Late onset ataxia phenotype in dentatorubro-pallidoluysian atrophy (DRPLA). (11967648)
2002
4
Length polymorphism in a CAG-rich coding region of the canine dentatorubro-pallidoluysian atrophy (DRPLA) gene. (9720192)
1998
5
Loss of the dentate nucleus neurons is associated with torpedo formation: a morphometric study in progressive supranuclear palsy and dentatorubro-pallidoluysian atrophy. (9498049)
1998
6
Dentatorubro-pallidoluysian atrophy of the myoclonus epilepsy type with posterior column degeneration. (2109190)
1990

Variations for Dentatorubro-Pallidoluysian Atrophy

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Clinvar genetic disease variations for Dentatorubro-Pallidoluysian Atrophy:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ATN1NM_001940.3(ATN1)NT expansionPathogenicrs193922934GRCh37Chr 12, 7045880: 7045882
2ATN1NM_001007026.1(ATN1)NT expansionPathogenicGRCh37Chr 12, 7045892: 7045894
3ATN1NM_001007026.1(ATN1)NT expansionPathogenicGRCh37Chr 12, 7045892: 7045894

Expression for genes affiliated with Dentatorubro-Pallidoluysian Atrophy

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Search GEO for disease gene expression data for Dentatorubro-Pallidoluysian Atrophy.

Pathways for genes affiliated with Dentatorubro-Pallidoluysian Atrophy

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Pathways related to Dentatorubro-Pallidoluysian Atrophy according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
8.6ATXN1, ATXN2, ATXN3, ATXN7
2
Show member pathways
8.2ATXN1, ATXN2, ATXN3, ATXN7, PPP2R2B

GO Terms for genes affiliated with Dentatorubro-Pallidoluysian Atrophy

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Cellular components related to Dentatorubro-Pallidoluysian Atrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nuclear inclusion bodyGO:004240510.3ATXN1, ATXN3
2nuclear matrixGO:00163638.9ATN1, ATXN1, ATXN3, ATXN7
3nucleoplasmGO:00056547.7ATN1, ATXN1, ATXN2, ATXN3, ATXN7, TBP
4cytoplasmGO:00057376.6ATN1, ATXN1, ATXN2, ATXN3, ATXN7, BAIAP2

Biological processes related to Dentatorubro-Pallidoluysian Atrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1exploration behaviorGO:00356409.9ATXN3, JPH3
2microtubule cytoskeleton organizationGO:00002269.7ATXN3, ATXN7
3neuromuscular process controlling balanceGO:00508859.2CACNA1A, JPH3

Molecular functions related to Dentatorubro-Pallidoluysian Atrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein C-terminus bindingGO:00080228.5ATXN1, ATXN2, BAIAP2

Sources for Dentatorubro-Pallidoluysian Atrophy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet