MCID: CHR029
MIFTS: 50

Choroid Plexus Papilloma malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Cancer diseases

Aliases & Classifications for Choroid Plexus Papilloma

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 12DISEASES, 67UniProtKB/Swiss-Prot, 65UMLS, 51Orphanet, 47Novoseek, 36MeSH, 24GTR, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Choroid Plexus Papilloma:

Name: Choroid Plexus Papilloma 49 10 11 45 12 67 65
Papilloma of Choroid Plexus 45 51 67
Childhood Choroid Plexus Papilloma 10 65
Papilloma, Choroid Plexus 36 24
Choroid Plexus Papilloma, No Icd-O Subtype 10
Childhood Papilloma of Choroid Plexus 10
 
Pediatric Papilloma of Choroid Plexus 10
Papilloma of the Choroid Plexus 10
Choroid Plexus Papilloma Nos 10
Papilloma Choroid Plexus 47
Cpp 67

Characteristics:

Orphanet epidemiological data:

51
papilloma of choroid plexus:
Age of onset: All ages

HPO:

61
choroid plexus papilloma:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 260500
Disease Ontology10 DOID:2626
MeSH36 D020288
NCIt42 C3698, C5800
Orphanet51 2807
SNOMED-CT59 18021007, 189911002
ICD10 via Orphanet28 D33.0
MESH via Orphanet37 D020288
UMLS via Orphanet66 C0205770
UMLS65 C0205770, C1332963

Summaries for Choroid Plexus Papilloma

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NIH Rare Diseases:45 Choroid plexus papilloma (cpp) ia a non-cancerous (benign) tumor of the choroid plexus, a network of blood vessels in the brain which surrounds the ventricles and produces the fluid surrounding the brain and spinal cord (cerebrospinal fluid, or csf). cpps most commonly occur in children but may occur in adults. symptoms are generally due to increased secretion of csf by tumor cells, causing hydrocephalus and subsequent intracranial pressure. affected individuals may experience headaches, nausea and vomiting, drowsiness, ocular or gaze palsies, optic nerve swelling (papilledema), visual disturbances, and possible blindness. infants, especially those with a tumor in the third ventricle, can present with hydrocephalus or macrocephaly. some cases of cpp may result from a mutation in the tp53 gene. complete tumor removal often cures the condition and may also relieve the hydrocephalus. last updated: 12/10/2012

MalaCards based summary: Choroid Plexus Papilloma, also known as papilloma of choroid plexus, is related to brain ischemia and medulloblastoma, and has symptoms including neoplasm of the nervous system, hydrocephalus and cognitive impairment. An important gene associated with Choroid Plexus Papilloma is TP53 (Tumor Protein P53), and among its related pathways is Neural Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include brain, spinal cord and liver, and related mouse phenotype vision/eye.

UniProtKB/Swiss-Prot:67 Papilloma of choroid plexus: A benign tumor of neuroectodermal origin that generally occurs in childhood, but has also been reported in adults. Although generally found within the ventricular system, choroid plexus papillomas can arise ectopically in the brain parenchyma or disseminate throughout the neuraxis. Patients present with signs and symptoms of increased intracranial pressure including headache, hydrocephalus, papilledema, nausea, vomiting, cranial nerve deficits, gait impairment, and seizures.

OMIM:49 Choroid plexus tumors are of neuroectodermal origin and range from benign choroid plexus papillomas (CPPs) to malignant... (260500) more...

Wikipedia:68 Choroid plexus papilloma, also known as papilloma of choroid plexus, is a rare benign neuroepithelial... more...

Related Diseases for Choroid Plexus Papilloma

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Diseases related to Choroid Plexus Papilloma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 355)
idRelated DiseaseScoreTop Affiliating Genes
1brain ischemia30.2GFAP, S100B
2medulloblastoma29.4GFAP, IGF2, SMARCB1, SYP, TP53
3atypical choroid plexus papilloma12.7
4central precocious puberty11.6
5thyroiditis10.6
6breast cancer10.5
7vulval paget's disease10.4SMARCB1, TP53
8lung cancer10.4
9hepatitis10.4
10leukemia10.4
11prostatitis10.4
12neuronitis10.4
13endotheliitis10.4
14merrf syndrome10.4SMARCB1, TP53
15childhood medulloblastoma10.4GFAP, SMARCB1
16childhood cerebellar neoplasm10.4GFAP, SMARCB1
17thrombophlebitis10.4GFAP, SMARCB1
18sebaceous adenocarcinoma10.4GFAP, SMARCB1
19alveoli adenoma10.4GFAP, TP53
20pineal gland astrocytoma10.4GFAP, TP53
21ovarian mucinous cystadenofibroma10.4GFAP, TP53
22congenital disorder of glycosylation, type if10.3GFAP, TP53
23lateral ventricle meningioma10.3GFAP, TP53
24subependymal giant cell astrocytoma10.3GFAP, TP53
25rectum kaposi's sarcoma10.3SMARCB1, SYP
26eye disease10.3GFAP, TP53
27myxopapillary ependymoma10.3GFAP, TP53
28anal gland neoplasm10.3SMARCB1, SYP
29colon small cell carcinoma10.3GFAP, TP53
30rheumatoid arthritis10.3
31hiv-110.3
32prostate cancer10.3
33renal cell carcinoma10.3
34keratitis10.3
35arthritis10.3
36b-cell lymphomas10.3
37lymphoma10.3
38typhus10.3
39personality disorder10.3
40cerebritis10.3
41cellulitis10.3
42pancreatitis10.3
43peritonitis10.3
44malignant hyperthermia10.3
45lupus erythematosus10.3
46psoriasis10.3
47encephalitis10.3
48muscular dystrophy10.3
49malignant hyperthermia susceptibility10.3
50sickle cell disease10.3

Graphical network of the top 20 diseases related to Choroid Plexus Papilloma:



Diseases related to choroid plexus papilloma

Symptoms for Choroid Plexus Papilloma

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Symptoms by clinical synopsis from OMIM:

260500

Clinical features from OMIM:

260500

Symptoms:

 51 (show all 10)
  • structural anomalies of the nervous system
  • hydrocephaly
  • central nervous system/peripheral nerves neoplasm/tumor/carcinoma/cancer
  • autosomal recessive inheritance
  • mild visual loss/impaired visual acuity
  • hypertonia/spasticity/rigidity/stiffness
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • neoplasms/tumors

HPO human phenotypes related to Choroid Plexus Papilloma:

(show all 8)
id Description Frequency HPO Source Accession
1 neoplasm of the nervous system hallmark (90%) HP:0004375
2 hydrocephalus hallmark (90%) HP:0000238
3 cognitive impairment occasional (7.5%) HP:0100543
4 hemiplegia/hemiparesis occasional (7.5%) HP:0004374
5 hypertonia occasional (7.5%) HP:0001276
6 seizures occasional (7.5%) HP:0001250
7 visual impairment occasional (7.5%) HP:0000505
8 choroid plexus papilloma HP:0200022

Drugs & Therapeutics for Choroid Plexus Papilloma

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Drugs for Choroid Plexus Papilloma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 27)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Fentanylapproved, illicit, investigationalPhase 3705437-38-73345
Synonyms:
1-Phenethyl-4-(N-phenylpropionamido)piperidine
1-Phenethyl-4-N-propionylanilinopiperidine
437-38-7
5-22-08-00049 (Beilstein Handbook Reference)
80832-90-2
990-73-8 (citrate)
AC1L1FQ2
Abstral
Actiq
BIDD:GT0555
BRN 0494484
CHEBI:119915
CHEMBL596
CID3345
D00320
DB00813
Duragesic
Duragesic (TN)
Duragesic-100
Duragesic-12
Duragesic-25
Duragesic-50
Duragesic-75
Durogesic
EINECS 207-113-6
Fentanest
Fentanil
Fentanil [DCIT]
Fentanila
Fentanila [INN-Spanish]
Fentanilo
Fentanyl
Fentanyl (JAN/USAN/INN)
Fentanyl - Novaplus
Fentanyl Citrate
Fentanyl [INN:BAN]
Fentanyl citrate
Fentanyl-100
 
Fentanyl-12
Fentanyl-25
Fentanyl-50
Fentanyl-75
Fentanylum
Fentanylum [INN-Latin]
HSDB 3329
IONSYS
JNS020QD
L001275
LS-124439
Lazanda
Matrifen
MolPort-003-847-369
N-(1-Phenethyl-4-piperidinyl)-N-phenylpropionamide
N-(1-Phenethyl-4-piperidyl)propionanilide
N-(1-Phenethyl-piperidin-4-yl)-N-phenyl-propionamide
N-(1-Phenethylpiperidin-4-yl)-N-phenylpropionamide
N-(1-phenethylpiperidin-4-yl)-N-phenylpropanamide
N-Phenethyl-4-(N-propionylanilino)piperidine
N-Phenyl-N-(1-(2-phenylethyl)-4-piperidinyl)propanamide
N-phenyl-N-[1-(2-phenylethyl)piperidin-4-yl]propanamide
NCGC00168252-01
Nasalfent
Oprea1_152073
Oprea1_207148
PDSP1_000860
PDSP2_000846
Pentanyl
Phentanyl
Propanamide, N-phenyl-N-(1-(2-phenylethyl)-4-piperidinyl)- (9CI)
R 4263
Rapinyl
Sentonil
Sublimase
Sublimaze
Subsys
UNII-UF599785JZ
fentanyl
2Analgesics, OpioidPhase 32304
3Liver ExtractsPhase 3, Phase 13572
4NarcoticsPhase 32709
5pancreatic polypeptidePhase 320
6AnalgesicsPhase 39358
7Central Nervous System DepressantsPhase 310016
8AnestheticsPhase 37385
9Anesthetics, GeneralPhase 32274
10Anesthetics, IntravenousPhase 31943
11Peripheral Nervous System AgentsPhase 318510
12ColaNutraceuticalPhase 3, Phase 11768
13
Bevacizumabapproved, investigationalPhase 21875216974-75-3
Synonyms:
216974-75-3
Avastin
Avastin (TN)
Bevacizumab
Bevacizumab (genetical recombination)
 
Bevacizumab (genetical recombination) (JAN)
D06409
R-435
anti-VEGF monoclonal antibody
antiVEGF
bevacizumab
14ImmunoglobulinsPhase 24477
15Immunologic FactorsPhase 2, Phase 118483
16Angiogenesis Modulating AgentsPhase 2, Phase 13611
17Angiogenesis InhibitorsPhase 2, Phase 13688
18AntibodiesPhase 24477
19Antibodies, MonoclonalPhase 22413
20
Docetaxelapproved, investigational, Approved May 1996Phase 11844114977-28-5148124, 9877265
Synonyms:
(2aR,4S,4aS,6R,9S,11S,12S,12aR,12bS)-12b-(acetyloxy)-12-(benzoyloxy)-2a,3,4,4a,5,6,9,10,11,12,12a,12b-dodecahydro-4,6,11-trihydroxy-4a,8,13,13-tetramethyl-5-oxo-7,11-methano-1H-cyclodeca[3,4]benz[1,2-b]oxet-9-yl (aR,bS)-b-[[(1,1-dimethylethoxy)carbonyl]amino]-a-hydroxybenzenepropanoate
(2alpha,5beta,7beta,10beta,13alpha)-4-(acetyloxy)-13-({(2R,3S)-3-[(tert-butoxycarbonyl)amino]-2-hydroxy-3-phenylpropanoyl}oxy)-1,7,10-trihydroxy-9-oxo-5,20-epoxytax-11-en-2-yl benzoate
01885_FLUKA
114977-28-5
4-(Acetyloxy)-13alpha-({(2R,3S)-3-[(tert-butoxycarbonyl)amino]-2-hydroxy-3-phenylpropanoyl}oxy)-1,7beta,10beta-trihydroxy-9-oxo-5beta,20-epoxytax-11-en-2alpha-yl benzoate
4-(acetyloxy)-13alpha-({(2R,3S)-3-[(tert-butoxycarbonyl)amino]-2-hydroxy-3-phenylpropanoyl}oxy)-1,7beta,10beta-trihydroxy-9-oxo-5beta,20-epoxytax-11-en-2alpha-yl benzoate
AC-383
AC1L3WHJ
ANX-514
BIND-014
C11231
CHEBI:4672
CHEMBL92
CID148124
D07866
DB01248
Docefrez
Docetaxel
Docetaxel (INN)
Docetaxel anhydrous
Docetaxel, Trihydrate
EmDOC
 
HMS2089K08
InChI=1/C43H53NO14/c1-22-26(55-37(51)32(48)30(24-15-11-9-12-16-24)44-38(52)58-39(3,4)5)20-43(53)35(56-36(50)25-17-13-10-14-18-25)33-41(8,34(49)31(47)29(22)40(43,6)7)27(46)19-28-42(33,21-54-28)57-23(2)45/h9-18,26-28,30-33,35,46-48,53H,19-21H2,1-8H3,(H,44,5
MolPort-003-847-005
N-Debenzoyl-N-(tert-butoxycarbonyl)-10-deacetylpaclitaxel
N-Debenzoyl-N-(tert-butoxycarbonyl)-10-deacetyltaxol
N-debenzoyl-N-(tert-butoxycarbonyl)-10-deacetylpaclitaxel
N-debenzoyl-N-(tert-butoxycarbonyl)-10-deacetyltaxol
N-debenzoyl-N-Boc-10-deacetyl taxol
NSC-628503
PSMA-targeted docetaxel nanoparticle
RP-56976
SDP-014
TXL
Taxotere
Taxotere (TN)
Taxotere(R)
XRP-6976L
docetaxel
docetaxel 114977-28-5
nchembio.188-comp8
nchembio.2007.34-comp7
nchembio.573-comp11
nchembio853-comp8
21Tubulin ModulatorsPhase 14279
22Antimitotic AgentsPhase 14296
23Immunosuppressive AgentsPhase 110422
24Anti-Bacterial AgentsPhase 19140
25
EntinostatPhase 137
Synonyms:
Entinostat
 
MS-275
SNDX-275
26Histone Deacetylase InhibitorsPhase 1532
27Anti-Infective AgentsPhase 117220

Interventional clinical trials:

idNameStatusNCT IDPhase
1Fentanyl Sublingual Spray in Treating Patients With Breakthrough Cancer PainCompletedNCT00538850Phase 3
2Bevacizumab in Reducing CNS Side Effects in Patients Who Have Undergone Radiation Therapy to the Brain for Primary Brain Tumor, Meningioma, or Head and Neck CancerCompletedNCT00492089Phase 2
3MS-275 in Treating Patients With Advanced Solid Tumors or LymphomaCompletedNCT00020579Phase 1
4Thalidomide and Docetaxel in Treating Patients With Advanced CancerCompletedNCT00049296Phase 1

Search NIH Clinical Center for Choroid Plexus Papilloma


Cochrane evidence based reviews: papilloma, choroid plexus

Genetic Tests for Choroid Plexus Papilloma

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Anatomical Context for Choroid Plexus Papilloma

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MalaCards organs/tissues related to Choroid Plexus Papilloma:

33
Brain, Spinal cord, Liver, T cells, Breast, Bone, Prostate

Animal Models for Choroid Plexus Papilloma or affiliated genes

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MGI Mouse Phenotypes related to Choroid Plexus Papilloma:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.3GFAP, IGF2, SMARCB1, TP53, TTR

Publications for Choroid Plexus Papilloma

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Articles related to Choroid Plexus Papilloma:

(show top 50)    (show all 285)
idTitleAuthorsYear
1
Is toxoplasmosis a potential risk factor for liver cirrhosis? (26522292)
2015
2
Role of occlusive devices to prevent thromboembolism among persons with a patent foramen ovale and prior stroke. (25744863)
2015
3
Congenital fiber type disproportion. (26526626)
2015
4
Identification of a novel HLA-B*15 variant allele, HLA-B*15:276, in an umbilical cord blood donor. (24646443)
2014
5
Comparison of the Heller-Toupet procedure with the Heller-Dor procedure in patients who underwent laparoscopic surgery for achalasia. (23793852)
2013
6
Review of human rabies prophylaxis and treatment. (23692940)
2013
7
Plasma levels and potential roles of catestatin in patients with coronary heart disease. (23688154)
2013
8
Image analysis for retinopathy of prematurity: where are we headed? (23084374)
2012
9
A case of epididymitis associated with Panton-Valentine leukocidin Staphylococcus aureus. (22440806)
2012
10
Psychotic-affective symptoms and multiple system atrophy expand phenotypes of spinocerebellar ataxia type 2. (22605703)
2012
11
Bmi-1 siRNA inhibited ovarian cancer cell line growth and decreased telomerase activity. (22872929)
2012
12
Alcohol affects goal commitment by explicitly and implicitly induced myopia. (22004115)
2012
13
Attitudes towards preconception care in Maltese women with type 1 diabetes mellitus. (22817678)
2012
14
Left ventricular noncompaction cardiomyopathy and aortopathy in a patient with recessive dystrophic epidermolysis bullosa. (22991407)
2012
15
The effect of neutral density filters on testing in patients with strabismic amblyopia. (22883843)
2012
16
Candida virulence properties and adverse clinical outcomes in neonatalA candidiasis. (22504098)
2012
17
Usefulness of computed tomographic angiography in the management of extracranial scalp arteriovenous malformation. (22824713)
2012
18
Interleukin-17-educated monocytes suppress cytotoxic T-cell function through B7-H1 in hepatocellular carcinoma patients. (21674477)
2011
19
Survey of risk factors contributed to lymphatic metastasis in patients with oral tongue cancer by immunohistochemistry. (20969624)
2011
20
Buerger's disease and anticardiolipin antibodies. (19455050)
2009
21
Distinct roles for tetraspanins CD9, CD63 and CD81 in the formation of multinucleated giant cells. (19489128)
2009
22
Effect of a novel ascorbic derivative, disodium isostearyl 2-O-L-ascorbyl phosphate on human dermal fibroblasts: increased collagen synthesis and inhibition of MMP-1. (18379041)
2008
23
Burning mouth syndrome responsive to pramipexol. (18219443)
2008
24
Diabetes susceptibility in the Canadian Oji-Cree population is moderated by abnormal mRNA processing of HNF1A G319S transcripts. (18586913)
2008
25
Subtyping of individuals undergoing treatment for cocaine dependence. (18940048)
2008
26
Alternatively activated macrophages regulate extracellular levels of the hormone placental lactogen via receptor-mediated uptake and transcytosis. (18292525)
2008
27
p73 loss triggers conversion to squamous cell carcinoma reversible upon reconstitution with TAp73alpha. (17699776)
2007
28
Identification of secretory granule phosphatidylinositol 4,5-bisphosphate-interacting proteins using an affinity pulldown strategy. (17449848)
2007
29
Partial reversal of transformed fusiform phenotype by overexpression of calreticulin. (17149557)
2007
30
MUC1 oncoprotein blocks nuclear targeting of c-Abl in the apoptotic response to DNA damage. (16888623)
2006
31
Real-time fluorescence quantitative PCR in detecting ribosome protein S13 (RPS13) gene expression in NK/T cell lymphoma]. (16761435)
2006
32
Expression and functional analysis of Bax inhibitor-1 in human breast cancer cells. (16353131)
2006
33
Impact of complex genetic variation in COMT on human brain function. (16786032)
2006
34
Delayed disease progression after allogeneic cell vaccination in hormone-resistant prostate cancer and correlation with immunologic variables. (15958632)
2005
35
CCL21 chemokine regulates chemokine receptor CCR7 bearing malignant melanoma cells. (15073111)
2004
36
Plasmin-mediated activation of platelets occurs by cleavage of protease-activated receptor 4. (14973136)
2004
37
Hepatitis A virus receptor blocks cell differentiation and is overexpressed in clear cell renal cell carcinoma. (15086915)
2004
38
Genes of tolerance. (15291896)
2004
39
Molecular basis of severe factor XI deficiency in seven families from the west of France. Seven novel mutations, including an ancient Q88X mutation. (14717969)
2004
40
Evidence that the adverse effect of controlled ovarian hyperstimulation on successful pregnancy outcome following embryo transfer may be related to premature trophoblast invasion. (12171323)
2002
41
Geographic association of Rickettsia felis-infected opossums with human murine typhus, Texas. (12023908)
2002
42
Role of mitochondrial dysfunction and dopamine-dependent oxidative stress in amphetamine-induced toxicity. (11198300)
2001
43
The relation of protein binding to function: what is the significance of munc18 and synaptotagmin binding to syntaxin 1, and where are the corresponding binding sites? (10928452)
2000
44
Evaluation of three intraoperative auditory monitoring techniques in acoustic neuroma surgery. (10733192)
2000
45
Mapping of the CCXCR1, CX3CR1, CCBP2 and CCR9 genes to the CCR cluster within the 3p21.3 region of the human genome. (10702689)
1999
46
Successful treatment of disseminated coccidioidomycosis with amphotericin B lipid complex. (9515680)
1998
47
The effects of the angiotensin-converting enzyme inhibitor imidapril on plasma plasminogen activator inhibitor activity in patients with acute myocardial infarction. (9398110)
1997
48
The role of lipases and LRP in the catabolism of triglyceride-rich lipoproteins. (8767481)
1996
49
Induction of hyperthyroxinemia in BALB/C but not in several other strains of mice. (7742472)
1994
50
Inclusion conjunctivitis in the newborn infant. (5430793)
1970

Variations for Choroid Plexus Papilloma

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Clinvar genetic disease variations for Choroid Plexus Papilloma:

5
id Gene Variation Type Significance SNP ID Assembly Location
1TP53NM_000546.5(TP53): c.475_481dupGCCATGG (p.Ala161Glyfs)duplicationPathogenicrs863223301GRCh38Chr 17, 7675131: 7675137

Expression for genes affiliated with Choroid Plexus Papilloma

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Search GEO for disease gene expression data for Choroid Plexus Papilloma.

Pathways for genes affiliated with Choroid Plexus Papilloma

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Pathways related to Choroid Plexus Papilloma according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
18.7GFAP, S100B, SYP

GO Terms for genes affiliated with Choroid Plexus Papilloma

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Biological processes related to Choroid Plexus Papilloma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediatorGO:00069789.6MUC1, TP53
2positive regulation of histone H4 acetylationGO:00902409.2MUC1, SMARCB1

Sources for Choroid Plexus Papilloma

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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