MCID: CHR029
MIFTS: 52

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 papillary ependymoma and giant cell glioblastoma, 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 189)
idRelated DiseaseScoreTop Affiliating Genes
1papillary ependymoma30.1GFAP, SMARCB1, SYP
2giant cell glioblastoma29.5GFAP, S100B, TP53
3medulloblastoma28.6GFAP, IGF2, SMARCB1, SYP, TP53
4atypical choroid plexus papilloma12.5
5central precocious puberty11.2
6choroiditis11.2
7papilloma11.2
8vulval paget's disease10.6SMARCB1, TP53
9merrf syndrome10.6SMARCB1, TP53
10childhood medulloblastoma10.6GFAP, SMARCB1
11childhood cerebellar neoplasm10.6GFAP, SMARCB1
12thrombophlebitis10.6GFAP, SMARCB1
13sebaceous adenocarcinoma10.6GFAP, SMARCB1
14alveoli adenoma10.5GFAP, TP53
15pineal gland astrocytoma10.5GFAP, TP53
16ovarian mucinous cystadenofibroma10.5GFAP, TP53
17congenital disorder of glycosylation, type if10.5GFAP, TP53
18lateral ventricle meningioma10.5GFAP, TP53
19subependymal giant cell astrocytoma10.5GFAP, TP53
20rectum kaposi's sarcoma10.5SMARCB1, SYP
21eye disease10.5GFAP, TP53
22myxopapillary ependymoma10.5GFAP, TP53
23anal gland neoplasm10.5SMARCB1, SYP
24colon small cell carcinoma10.5GFAP, TP53
25mucocele of salivary gland10.5GFAP, TP53
26brain glioma10.5SYP, TP53
27salivary gland adenoid cystic carcinoma10.5GFAP, TP53
28chronic rhinitis10.5SYP, TP53
29fallopian tube serous papilloma10.5SYP, TP53
30scabies10.5SYP, TP53
31vulvar clear cell hidradenocarcinoma10.5MUC1, TP53
32small intestine leiomyosarcoma10.4GFAP, TP53
33fallopian tube teratoma10.4SYP, TP53
34childhood pilocytic astrocytoma10.4GFAP, TP53
35pulmonary immaturity10.4MUC1, TP53
36pleomorphic carcinoma10.4SYP, TP53
37hypothalamic neoplasm10.4SYP, TTR
38mixed ductal-endocrine carcinoma10.4SYP, TTR
39hydrocephalus10.4
40cardiovascular organ benign neoplasm10.4SYP, TP53
41atypical teratoid rhabdoid tumor10.4GFAP, SMARCB1
42substance abuse10.4GFAP, TP53
43urinary bladder villous adenoma10.4GFAP, SYP
44pediculus humanus capitis infestation10.4GFAP, SYP
45pancreatic foamy gland adenocarcinoma10.4MUC1, TP53
46biliary tract intraductal papillary mucinous neoplasm10.4MUC1, TP53
47skin glomus tumor10.4GFAP, SYP
48gastrointestinal neuroendocrine tumor10.4MUC1, TP53
49benign ependymoma10.4GFAP, SYP
50pilomyxoid astrocytoma10.4GFAP, SYP

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

UMLS symptoms related to Choroid Plexus Papilloma:


vomiting, headache

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, Breast, Thyroid, Pituitary, T cells

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 290)
idTitleAuthorsYear
1
Choroid plexus papilloma in a beluga whale (Delphinapterus leucas). (27216722)
2016
2
Uncommon presentation of choroid plexus papilloma in an infant. (27195037)
2016
3
Management of disseminated choroid plexus papilloma: A case study. (24038916)
2014
4
Densely calcified atypical choroid plexus papilloma at the cerebellopontine angle in an adult. (24303341)
2013
5
Choroid plexus papilloma of the third ventricle: A rare infantile brain tumor. (24470825)
2013
6
Choroid plexus papilloma and Pierpont syndrome. (23176139)
2013
7
A Case of Difficult Management of Fluid-Electrolyte Imbalance in Choroid Plexus Papilloma. (24257496)
2013
8
Progression of choroid plexus papilloma. (23850048)
2013
9
A sacro-caudal spinal cord choroid plexus papilloma in a shar-pei dog. (23731182)
2013
10
MR Findings of Primary Choroid Plexus Papilloma of the Cerebellopontine Angle: Report of Three Cases and Literature Reviews. (23736865)
2013
11
Bevacizumab use in disseminated choroid plexus papilloma. (23761024)
2013
12
Chemotaxis of T-cells after infection of human choroid plexus papilloma cells with Echovirus 30 in an in vitro model of the blood-cerebrospinal fluid barrier. (23000117)
2012
13
A case of choroid plexus papilloma with stromal sclerosis and indistinct papillary structures. (21968641)
2012
14
Endoscopic removal of a cystic choroid plexus papilloma of the third ventricle: a case report and review of the literature. (21414714)
2011
15
Combined staged endoscopic and microsurgical approach of a third ventricular choroid plexus papilloma in an infant. (22278793)
2011
16
Prenatal diagnosis and successful postnatal therapy of an atypical choroid plexus papilloma-Case report and review of literature. (20564313)
2010
17
Polyploidy in atypical grade II choroid plexus papilloma of the posterior fossa. (18627486)
2009
18
Multiple dicentric chromosomes behind polyploidy in grade II atypical choroid plexus papilloma: a complementary cytogenetic evaluation. (19077039)
2009
19
Primary choroid plexus papilloma of the sacral nerve roots. (19119933)
2009
20
Grade II atypical choroid plexus papilloma with normal karyotype. (19554332)
2009
21
Infant with unusually large choroid plexus papilloma undergoing emergency surgery. Case report with special emphasis on the surgical strategy. (16465083)
2006
22
Choroid plexus papilloma developing in a dermoid cyst of ovary. (16879402)
2006
23
Delayed occurrence of multiple spinal drop metastases from a posterior fossa choroid plexus papilloma. Case report. (16776361)
2006
24
Choroid plexus papilloma in a Scottish highland cow. (16952368)
2006
25
Choroid plexus papilloma associated with developmental delay. (15345882)
2004
26
Pineal region lesion masquerading choroid plexus papilloma: case report. (12648913)
2003
27
Choroid plexus papilloma of the fourth ventricle. (12593575)
2002
28
Choroid plexus papilloma in the posterior cranial fossa: MR, CT, and angiographic findings. (11679220)
2001
29
Segmental myoclonus as the sole manifestation of a choroid plexus papilloma in the posterior fossa. Case report. (11780907)
2001
30
Choroid plexus papilloma of cerebellopontine angle with extension to foramen magnum. (10339715)
1999
31
Choroid plexus papilloma. (9880959)
1998
32
CSF dissemination of a benign choroid plexus papilloma (CPP) (9404596)
1997
33
Choroid plexus papilloma and cysts in the Aicardi syndrome: case reports. (9520082)
1997
34
Germinoma and choroid plexus papilloma coexisting in the fourth ventricle. (8955448)
1996
35
A choroid plexus papilloma arising from an incidental pineal cyst. (8733971)
1996
36
Bone formation within a choroid plexus papilloma. (8835212)
1995
37
Primary choroid plexus papilloma of the cerebellopontine angle: magnetic resonance imaging, computed tomographic and angiographic appearances. (1393408)
1992
38
Congenital choroid plexus papilloma and giant nevomelanocytic nevus: report of a case. (2347972)
1990
39
Neuroradiology case of the day. Choroid plexus papilloma, third ventricle. (2718873)
1989
40
An immunohistochemical study of cytokeratin and glial fibrillary acidic protein in choroid plexus papilloma. (2450443)
1988
41
Choroid plexus papilloma in a 4-month-old child: a case report. (3298395)
1986
42
Choroid plexus papilloma with cerebrospinal fluid rhinorrhea. (6495170)
1984
43
A case of choroid plexus papilloma in the lateral ventricle, complicated by a neuroepithelial cyst in the posterior fossa in a newborn infant. (6521416)
1984
44
Electron microscopic observations on malignant choroid plexus papilloma. (6877519)
1983
45
Malignant choroid plexus papilloma with extraneural metastasis. Case report. (7351566)
1980
46
Hydrocephalus aggravated after total excision of a choroid plexus papilloma [proceedings]. (290267)
1979
47
Cerebrospinal fluid overproduction and hydrocephalus associated with choroid plexus papilloma. (4544345)
1974
48
Choroid plexus papilloma mimicking degenerative brain disease in childhood. (5060466)
1972
49
Choroid plexus papilloma in a dog. (5157934)
1971
50
Primary choroid plexus papilloma of the cerebellopontine angle. Case report. (5305210)
1969

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