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MCID: PLC011
MIFTS: 66

Pilocytic Astrocytoma

Categories: Cancer diseases, Eye diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Pilocytic Astrocytoma

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MalaCards integrated aliases for Pilocytic Astrocytoma:

Name: Pilocytic Astrocytoma 11 19 58 28 53 5 14 71 75
Juvenile Pilocytic Astrocytoma 19 71
Grade I Astrocytic Tumor 11
Piloid Astrocytoma 11

Characteristics:


Prevelance:

1-9/1000000 (United States) 58

Age Of Onset:

All ages 58

Classifications:

MalaCards categories:
Global: Rare diseases Cancer diseases
Anatomical: Neuronal diseases Eye diseases
See all MalaCards categories (disease lists)
ICD10: 32
Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 11 DOID:4851
MeSH 43 D001254
NCIt 49 C4047
SNOMED-CT 68 67859002
ICD10 via Orphanet 32 C71.9
UMLS via Orphanet 72 C0334583
Orphanet 58 ORPHA251612
UMLS 71 C0280783 C0334583
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Summaries for Pilocytic Astrocytoma

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Orphanet: 58 Pilocytic astrocytoma is a rare subtype of low-grade glioma of the central nervous system characterized by a well circumscribed, often cystic, brain tumor with a discrete mural nodule and long, hair-like projections that extend from the neoplastic astrocytes. Depending on the primary localization and the size of the tumor, patients can present with signs of raised intracranial pressure (headache, vomiting, papilledema), blurred vision, decreased visual acuity, ataxia and/or nystagmus, among others. It is most commonly located in the cerebellum, but ocurrence in the hypothalamus, brain stem, optic chiasma, and hemispheres has also been reported.

MalaCards based summary: Pilocytic Astrocytoma, also known as juvenile pilocytic astrocytoma, is related to childhood pilocytic astrocytoma and juvenile pilocytic astrocytoma, and has symptoms including headache An important gene associated with Pilocytic Astrocytoma is NF1 (Neurofibromin 1), and among its related pathways/superpathways are ERK Signaling and Signal Transduction. The drugs Trametinib and Dabrafenib have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and cerebellum, and related phenotypes are Decreased viability and Increased cell migration

GARD: 19 Pilocytic astrocytoma is an often benign, slow-growing tumor of the brain or spinal cord. The tumor may be in the form of a cyst and usually does not spread to nearby tissues. Symptoms vary depending upon the size and location of the tumor. Most symptoms result from increased pressure on the brain and include headaches, nausea, vomiting, balance problems, and vision abnormalities. The underlying cause of a Pilocytic astrocytoma is unknown. It most commonly occurs in children and young adults, and in people with neurofibromatosis type 1 (NF1), Li-Fraumeni syndrome, and tuberous sclerosis.

Disease Ontology: 11 A childhood low-grade glioma that is characterized by cells that look like fibers when viewed under a microscope and is located in the brain.

Wikipedia: 75 Pilocytic astrocytoma (and its variant pilomyxoid astrocytoma) is a brain tumor that occurs most... more...
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Related Diseases for Pilocytic Astrocytoma

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Diseases in the Pilocytic Astrocytoma family:

Juvenile Pilocytic Astrocytoma

Diseases related to Pilocytic Astrocytoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 670)
# Related Disease Score Top Affiliating Genes
1 childhood pilocytic astrocytoma 33.4 NF1 KIAA1549 BRAF
2 juvenile pilocytic astrocytoma 33.4 TP53 NF1 KIAA1549 IDH1
3 pilocytic astrocytoma of cerebellum 33.1 NF1 KIAA1549 IDH1 BRAF
4 pilomyxoid astrocytoma 32.3 SYP RAF1 OLIG2 NF1 MGMT KRAS
5 neurofibromatosis-noonan syndrome 31.9 PTPN11 NF1 HRAS
6 hydrocephalus 31.7 TP53 SYP PTEN NES GFAP
7 neurofibromatosis 31.6 TP53 PTPN11 PTEN NRAS NF1 KRAS
8 cellular ependymoma 31.5 SYP NES MGMT GFAP
9 obstructive hydrocephalus 31.4 SYP OLIG2 NF1 KIAA1549 GFAP
10 brain cancer 31.4 TP53 SYP PTPN11 PTEN OLIG2 NRAS
11 neurofibromatosis, type i 31.4 TP53 SDHA RAF1 PTPN11 PTEN NRAS
12 cerebellar astrocytoma 31.4 NF1 KIAA1549 IDH1 BRAF
13 ganglioglioma 31.3 TP53 SYP NF1 NES GFAP BRAF
14 glioma 31.3 TP53 PTEN NF1 MGMT IDH1
15 high grade glioma 31.2 TP53 PTEN NES MGMT GFAP CDKN2A
16 syringomyelia 31.2 NRAS NF1 NES GFAP
17 neurilemmoma 31.2 SYP SOX10 NF1 NES GFAP
18 dysembryoplastic neuroepithelial tumor 31.2 SYP OLIG2 NF1 KIAA1549 IDH1 GFAP
19 arteriovenous malformation 31.1 NF1 HRAS BRAF
20 anaplastic astrocytoma 31.1 TP53 PTEN OLIG2 NF1 NES MGMT
21 diffuse astrocytoma 31.1 TP53 PTEN OLIG2 NF1 MGMT KIAA1549
22 oligodendroglioma 31.1 TP53 SYP SOX10 PTEN OLIG2 NF1
23 low grade glioma 31.1 TP53 SYP PTEN OLIG2 NF1 NES
24 medulloblastoma 31.0 TP53 SYP PTPN11 PTEN OLIG2 NRAS
25 optic nerve glioma 31.0 OLIG2 NF1 KIAA1549 IDH1
26 meningioma, familial 31.0 TP53 SYP SOX10 PTEN OLIG2 NF1
27 fibrillary astrocytoma 31.0 TP53 NF1 KIAA1549 IDH1 GFAP
28 glioblastoma 31.0 TP53 SOX10 RAF1 PTEN OLIG2 NRAS
29 pleomorphic xanthoastrocytoma 31.0 TP53 SYP NF1 MGMT KIAA1549 IDH1
30 high-grade astrocytoma 30.9 TP53 PTEN
31 myxopapillary ependymoma 30.9 SYP KIAA1549 GFAP
32 malignant astrocytoma 30.9 TP53 PTEN MGMT IDH1
33 lipomatosis, multiple 30.9 TP53 PTEN NF1
34 anaplastic ependymoma 30.8 SYP PTEN OLIG2 IDH1 GFAP
35 brain stem glioma 30.7 TP53 IDH1 BRAF
36 bap1 tumor predisposition syndrome 30.7 TP53 SDHA PTPN11 PTEN NF1 FLCN
37 astroblastoma 30.7 OLIG2 KIAA1549 IDH1 GFAP
38 gliofibroma 30.7 KIAA1549 GFAP
39 spinal cord glioma 30.7 NF1 MGMT KIAA1549 IDH1
40 papilloma of choroid plexus 30.6 TP53 SYP GFAP
41 choroid plexus cancer 30.6 TP53 SYP OLIG2 GFAP
42 supratentorial primitive neuroectodermal tumor 30.6 TP53 SYP IDH1 GFAP
43 papilloma 30.6 TP53 PTEN KRAS CDKN2A
44 subependymal giant cell astrocytoma 30.6 SYP PTEN NF1 KIAA1549 GFAP
45 ovary adenocarcinoma 30.6 TP53 PTEN KRAS HRAS CDKN2A
46 serous cystadenocarcinoma 30.6 TP53 PTEN NF1 KRAS HRAS CDKN2A
47 gemistocytic astrocytoma 30.6 TP53 PTEN MGMT IDH1 GFAP
48 cerebral degeneration 30.5 SYP SOX10 OLIG2 NF1 NES GFAP
49 central neurocytoma 30.5 SYP OLIG2 NES KIAA1549 IDH1 GFAP
50 neurofibroma 30.5 TP53 SYP SOX10 PTEN NF1 CDKN2A

Graphical network of the top 20 diseases related to Pilocytic Astrocytoma:



Diseases related to Pilocytic Astrocytoma
Sources

Symptoms & Phenotypes for Pilocytic Astrocytoma

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UMLS symptoms related to Pilocytic Astrocytoma:


headache

GenomeRNAi Phenotypes related to Pilocytic Astrocytoma according to GeneCards Suite gene sharing:

25 (show all 16)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10.29 HRAS KRAS
2 Decreased viability GR00055-A-2 10.29 HRAS KRAS
3 Decreased viability GR00055-A-3 10.29 KRAS
4 Decreased viability GR00106-A-0 10.29 KRAS
5 Decreased viability GR00221-A-1 10.29 CDKN2A HRAS KRAS NF1 NRAS RAF1
6 Decreased viability GR00221-A-2 10.29 HRAS KRAS NF1 RAF1
7 Decreased viability GR00221-A-3 10.29 CDKN2A HRAS NRAS
8 Decreased viability GR00221-A-4 10.29 CDKN2A NF1
9 Decreased viability GR00249-S 10.29 NF1
10 Decreased viability GR00301-A 10.29 KRAS RAF1
11 Decreased viability GR00381-A-1 10.29 KRAS
12 Decreased viability GR00386-A-1 10.29 NF1
13 Decreased viability GR00402-S-2 10.29 RAF1
14 Increased cell migration GR00055-A-1 8.96 NF1
15 Increased cell migration GR00055-A-3 8.96 NF1
16 Decreased viability in pancreas lineage GR00235-A 8.62 IDH1 TP53

MGI Mouse Phenotypes related to Pilocytic Astrocytoma:

45 (show all 23)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.5 BRAF CDKN2A FLCN GFAP HRAS IDH1
2 nervous system MP:0003631 10.49 BRAF CDKN2A GFAP HRAS IDH1 KRAS
3 growth/size/body region MP:0005378 10.47 BRAF CDKN2A FLCN GFAP HRAS IDH1
4 neoplasm MP:0002006 10.45 BRAF CDKN2A FLCN HRAS KRAS MGMT
5 normal MP:0002873 10.38 BRAF GFAP HRAS KRAS NF1 NRAS
6 behavior/neurological MP:0005386 10.33 BRAF CDKN2A GFAP HRAS KIAA1549 KRAS
7 muscle MP:0005369 10.32 BRAF CDKN2A GFAP HRAS KRAS NF1
8 endocrine/exocrine gland MP:0005379 10.3 BRAF CDKN2A HRAS KRAS MGMT NF1
9 cellular MP:0005384 10.3 BRAF CDKN2A FLCN GFAP KRAS NES
10 no phenotypic analysis MP:0003012 10.29 CDKN2A HRAS KRAS MGMT NRAS OLIG2
11 embryo MP:0005380 10.29 BRAF CDKN2A FLCN KRAS NES NF1
12 pigmentation MP:0001186 10.26 BRAF CDKN2A KRAS NF1 NRAS PTEN
13 digestive/alimentary MP:0005381 10.24 BRAF CDKN2A GFAP HRAS KRAS NF1
14 liver/biliary system MP:0005370 10.22 BRAF CDKN2A KRAS NF1 NRAS PTEN
15 cardiovascular system MP:0005385 10.21 BRAF CDKN2A FLCN GFAP HRAS KRAS
16 immune system MP:0005387 10.18 BRAF CDKN2A FLCN GFAP IDH1 KIAA1549
17 limbs/digits/tail MP:0005371 10.16 BRAF KRAS NF1 NRAS PTEN PTPN11
18 craniofacial MP:0005382 10.13 BRAF HRAS KRAS NF1 NRAS PTPN11
19 respiratory system MP:0005388 10.13 BRAF CDKN2A HRAS IDH1 KRAS MGMT
20 skeleton MP:0005390 10.07 BRAF CDKN2A HRAS IDH1 KRAS NF1
21 mortality/aging MP:0010768 9.91 BRAF CDKN2A FLCN GFAP HRAS IDH1
22 vision/eye MP:0005391 9.9 BRAF CDKN2A GFAP KRAS NF1 NRAS
23 integument MP:0010771 9.36 BRAF CDKN2A HRAS KRAS NF1 NRAS
Sources

Drugs & Therapeutics for Pilocytic Astrocytoma

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Drugs for Pilocytic Astrocytoma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 50)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Trametinib Approved Phase 4 871700-17-3 11707110
2
Dabrafenib Approved, Investigational Phase 4 1195765-45-7 44462760
3 Protein Kinase Inhibitors Phase 4
4
Erlotinib Approved, Investigational Phase 1, Phase 2 183319-69-9, 183321-74-6 176870
5
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 5284616 6436030
6
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
7
Clotrimazole Approved, Vet_approved Phase 1, Phase 2 23593-75-1 2812
8
Bevacizumab Approved, Investigational Phase 1, Phase 2 216974-75-3 135329020
9
Irinotecan Approved, Investigational Phase 1, Phase 2 97682-44-5, 100286-90-6 60838
10
Sodium citrate Approved, Investigational Phase 1, Phase 2 68-04-2 23431961
11
Temozolomide Approved, Investigational Phase 1, Phase 2 85622-93-1 5394
12
Mebendazole Approved, Vet_approved Phase 1, Phase 2 31431-39-7 4030
13
Piperazine Approved, Vet_approved Phase 1, Phase 2 110-85-0 4837
14
Etoposide Approved Phase 2 33419-42-0 36462
15
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
16
Carboplatin Approved Phase 2 41575-94-4 10339178 38904
17
Vincristine Approved, Investigational Phase 2 2068-78-2, 57-22-7 5978
18
Lenalidomide Approved Phase 2 191732-72-6 216326
19
Citric acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 77-92-9 311
20 Antifungal Agents Phase 1, Phase 2
21 Immunosuppressive Agents Phase 1, Phase 2
22 Alkylating Agents Phase 1, Phase 2
23 Antineoplastic Agents, Alkylating Phase 1, Phase 2
24 Anti-Infective Agents Phase 1, Phase 2
25 topoisomerase I inhibitors Phase 1, Phase 2
26 Anthelmintics Phase 1, Phase 2
27 Antiparasitic Agents Phase 1, Phase 2
28 Anticonvulsants Phase 1, Phase 2
29 Antineoplastic Agents, Immunological Phase 1, Phase 2
30 Citrate Phase 1, Phase 2
31 Piperazine citrate Phase 1, Phase 2
32 DMP 777 Phase 1, Phase 2 157341-41-8
33 Anti-Bacterial Agents Phase 2
34
Etoposide phosphate Phase 2 16760419
35 Antibiotics, Antitubercular Phase 2
36 Liposomal doxorubicin Phase 2
37 Antimitotic Agents Phase 2
38 Tubulin Modulators Phase 2
39 Angiogenesis Inhibitors Phase 2
40 Immunologic Factors Phase 2
41
Etanidazole Investigational Phase 1 22668-01-5 3276
42 Liver Extracts Phase 1
43 R04929097 Phase 1
44 Fluorides Phase 1
45
Dopamine Approved 62-31-7, 51-61-6 681
46
Imidazole Experimental, Investigational 288-32-4 795
47 Protective Agents Early Phase 1
48 Dihydroxyphenylalanine
49 Neurotransmitter Agents
50 Dopamine Agents

Interventional clinical trials:

(show all 17)
# Name Status NCT ID Phase Drugs
1 An Open Label, Multi-center Roll-over Study to Assess Long-term Effect in Pediatric Patients Treated With Tafinlar (Dabrafenib) and/or Mekinist (Trametinib) Recruiting NCT03975829 Phase 4 dabrafenib;trametinib
2 Phase I/II Study of OSI-774 (Erlotinib) and CCI-779 (Temsirolimus) in Patients With Recurrent Malignant Glioma Completed NCT00112736 Phase 1, Phase 2 erlotinib;temsirolimus
3 A Phase I Study of Mebendazole for the Treatment of Pediatric Gliomas Recruiting NCT01837862 Phase 1, Phase 2 Mebendazole;Vincristine;Carboplatin;Temozolomide;Bevacizumab;Irinotecan
4 A Pilot Study of Using MRI-Guided Laser Heat Ablation to Induce Disruption of the Peritumoral Blood Brain Barrier to Enhance Delivery and Efficacy of Treatment of Pediatric Brain Tumors Recruiting NCT02372409 Phase 2 Doxorubicin;Etoposide
5 Phase II Open-label Global Study to Evaluate the Effect of Dabrafenib in Combination With Trametinib in Children and Adolescent Patients With BRAF V600 Mutation Positive Low Grade Glioma (LGG) or Relapsed or Refractory High Grade Glioma (HGG) Active, not recruiting NCT02684058 Phase 2 dabrafenib;trametinib;Carboplatin with vincristine
6 A Phase 1 and Phase II and Re-Treatment Study of AZD6244 for Recurrent or Refractory Pediatric Low Grade Glioma Active, not recruiting NCT01089101 Phase 1, Phase 2 Selumetinib
7 A Phase II Randomized Trial of Lenalidomide (NSC # 703813) in Pediatric Patients With Recurrent, Refractory or Progressive Juvenile Pilocytic Astrocytomas and Optic Pathway Gliomas Active, not recruiting NCT01553149 Phase 2 Lenalidomide
8 Phase I Study of OSI-774 (NSC 718781) for Solid Tumors in Patients With Hepatic or Renal Dysfunction Completed NCT00030498 Phase 1 erlotinib hydrochloride
9 Phase 1 Trial of RO4929097 in Combination With Standard Radiotherapy and Temozolomide for Newly Diagnosed Malignant Glioma: A Pharmacokinetic and Pharmacodynamic Study Completed NCT01119599 Phase 1 Gamma-Secretase Inhibitor RO4929097;Temozolomide
10 Phase I Study of Alisertib With Concurrent Fractionated Stereotactic Radiation Treatment for Recurrent High Grade Gliomas Completed NCT02186509 Phase 1 Alisertib
11 A First-in-human Phase I Single-agent Dose-escalation, Food Effect and Dose Expansion Study of Oral ONC206 in Recurrent and Rare Primary Central Nervous System Neoplasms Recruiting NCT04541082 Phase 1 ONC206
12 Microenvironment: Imaging/Implications in Brain Tumors; A Preliminary Investigation of the Biodistribution of [F-18]-EF5 in Patients With Brain Tumors Terminated NCT00110032 Phase 1 EF5
13 A Phase II Study of Hippocampal-Avoidance Using Proton Therapy in Low-Grade Glioma Recruiting NCT04065776
14 A Pilot Study of Utility of 18F-FDOPA-PET for Neurosurgical Planning and Radiotherapy Target Delineation in Glioma Patients: Biopsy Validation of 18F-FDOPA-PET Uptake and Biodistribution in Brain Tumors Active, not recruiting NCT01165632 Early Phase 1 fluorine F 18 fluorodopa
15 Assessment of Hypoxia in Malignant Gliomas Using EF5 Terminated NCT00430079 etanidazole
16 18F-FDOPA PET/CT or PET/MRI in Patients With Gliomas Terminated NCT02175745 18F-fluoro-dihydroxyphenylalanine
17 Efficacy of 68Ga-DOTATOC Positron Emission Tomography (PET) CT in Children and Young Adults With Brain Tumors Withdrawn NCT02194452

Search NIH Clinical Center for Pilocytic Astrocytoma

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Genetic Tests for Pilocytic Astrocytoma

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Genetic tests related to Pilocytic Astrocytoma:

# Genetic test Affiliating Genes
1 Pilocytic Astrocytoma 28
Sources

Anatomical Context for Pilocytic Astrocytoma

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Organs/tissues related to Pilocytic Astrocytoma:

FMA: Brain
MalaCards : Brain, Spinal Cord, Cerebellum, Hypothalamus, Eye, Pineal, Bone Marrow
Sources

Publications for Pilocytic Astrocytoma

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Articles related to Pilocytic Astrocytoma:

(show top 50) (show all 1707)
# Title Authors PMID Year
1
RAS pathway activation and an oncogenic RAS mutation in sporadic pilocytic astrocytoma. 62 5
16247081 2005
2
Impact of morphology, MIB-1, p53 and MGMT on outcome in pilocytic astrocytomas. 53 62
19832838 2010
3
Diversity of glial cell components in pilocytic astrocytoma. 53 62
18312545 2008
4
Further evidence for a somatic KRAS mutation in a pilocytic astrocytoma. 53 62
17712732 2007
5
Expression of SOX9 and SOX10 in central neuroepithelial tumor. 53 62
16791471 2006
6
Rapamycin causes regression of astrocytomas in tuberous sclerosis complex. 53 62
16453317 2006
7
Proteomic analysis reveals hyperactivation of the mammalian target of rapamycin pathway in neurofibromatosis 1-associated human and mouse brain tumors. 53 62
15805275 2005
8
Epithelioid glioblastoma: a case report. 53 62
18095100 2005
9
Rosette-forming glioneuronal tumor of the fourth ventricle. 53 62
12915951 2003
10
Preliminary observations on genetic alterations in pilocytic astrocytomas associated with neurofibromatosis 1. 53 62
14565158 2003
11
Marked regression of metastatic pilocytic astrocytoma during treatment with imatinib mesylate (STI-571, Gleevec): a case report and laboratory investigation. 53 62
12902920 2003
12
Differential expression between pilocytic and anaplastic astrocytomas: identification of apolipoprotein D as a marker for low-grade, non-infiltrating primary CNS neoplasms. 53 62
11895042 2002
13
Pilocytic astrocytomas do not show most of the genetic changes commonly seen in diffuse astrocytomas. 53 62
11119125 2000
14
Expression of vascular endothelial growth factor and its receptors in pilocytic astrocytoma. 53 62
9255258 1997
15
[Expression of glial fibrillary acidic protein and protein S-100 in cerebral astrocytic gliomas of varying degrees of malignancy (immunohistochemical study)]. 53 62
8526753 1995
16
A cystic anaplastic ependymoma mimicking a pilocytic astrocytoma. 62
36465161 2023
17
Radiomics for differentiation of the posterior fossa pilocytic astrocytoma versus hemangioblastomas in adults. A pilot study. 62
36370592 2023
18
Long-term outcome after management of pilocytic astrocytoma in the posterior fossa in a pediatric population. 62
36340442 2022
19
Differentiation between supratentorial pilocytic astrocytoma and extraventricular ependymoma using multiparametric MRI. 62
34709088 2022
20
Endoscopic resection of thalamic lesions via supracerebellar infratentorial approach: a case series and technical note. 62
36352046 2022
21
Anaplastic ganglioglioma-A diagnosis comprising several distinct tumour types. 62
35977725 2022
22
Fatty syringomyelia mimicking lipoma with spinal cord pilocytic astrocytoma. 62
36384332 2022
23
Cytological features in pilomyxoid astrocytoma: A case report with summary of prior published cases. 62
35774027 2022
24
A case of anterior choroidal artery injury after resection of a pilocytic astrocytoma in the amygdale-a case report. 62
36415728 2022
25
Differentiation of pilocytic astrocytoma, medulloblastoma, and hemangioblastoma on diffusion-weighted and dynamic susceptibility contrast perfusion MRI. 62
36343086 2022
26
Machine Learning in the Classification of Pediatric Posterior Fossa Tumors: A Systematic Review. 62
36428701 2022
27
[Pediatric Posterior Fossa Tumors]. 62
36426530 2022
28
Pediatric spinal pilocytic astrocytomas form a distinct epigenetic subclass from pilocytic astrocytomas of other locations and diffuse leptomeningeal glioneuronal tumours. 62
36264505 2022
29
Cerebellar mutism syndrome: the importance of preoperative language assessment. 62
35338372 2022
30
Immune Microenvironment and Lineage Tracing Help to Decipher Rosette-Forming Glioneuronal Tumors: A Multi-Omics Analysis. 62
35984315 2022
31
Methylation subgroup and molecular heterogeneity is a hallmark of glioblastoma: implications for biopsy targeting, classification and therapy. 62
36055049 2022
32
The clinical and molecular characteristics of progressive hypothalamic/optic pathway pilocytic astrocytoma. 62
36260562 2022
33
A case report of pilocytic astrocytoma mimicking meningioma on imaging. 62
35965926 2022
34
The utility of DNA methylation analysis in elderly patients with pilocytic astrocytoma morphology. 62
36107362 2022
35
Resection of brain lesions with a neuroendoscopic ultrasonic aspirator - a systematic literature review. 62
35896917 2022
36
Multiplatform molecular analyses refine classification of gliomas arising in patients with neurofibromatosis type 1. 62
35945463 2022
37
Treatment of Intracranial Tumors With Stereotactic Radiosurgery: Short-Term Results From Cuba. 62
36348852 2022
38
Novel Use of the Aurora Surgiscope System for Minimally Invasive Resection of Intraparenchymal Lesions: A Case Series. 62
35972079 2022
39
Integrated genomic analysis reveals actionable targets in pediatric spinal cord low-grade gliomas. 62
36163281 2022
40
Age is a major determinant for poor prognosis in patients with pilocytic astrocytoma: a SEER population study. 62
36063258 2022
41
Melanotic pilocytic astrocytoma. 62
36161674 2022
42
A nine-month-old boy with regression of milestones and severe constipation: an unusual case of a large spinal NTRK1 fusion pilocytic astrocytoma. 62
36107222 2022
43
Parent ratings of executive functioning in pediatric survivors of medulloblastoma and pilocytic astrocytoma. 62
36111630 2022
44
Localized variation in ancestral admixture identifies pilocytic astrocytoma risk loci among Latino children. 62
36070312 2022
45
Pilocytic Astrocytoma Arising from the Conus Medullaris in an Adult: A Case Report. 62
36398175 2022
46
Hypertrophic Olivary Degeneration Postoperatively Following Pilocytic Astrocytoma Resection. 62
35718276 2022
47
Usefulness of intraoperative rapid immunohistochemistry in the surgical treatment of brain tumors. 62
36128673 2022
48
Pathological Classification of the Intramedullary Spinal Cord Tumors According to 2021 World Health Organization Classification of Central Nervous System Tumors, a Single-Institute Experience. 62
36203303 2022
49
Cytologic and histologic features of pigmented pleomorphic xanthoastrocytoma: A case report and literature review. 62
35429149 2022
50
Clinical factors and conventional MRI may independently predict progression-free survival and overall survival in adult pilocytic astrocytomas. 62
35112217 2022
Sources

Variations for Pilocytic Astrocytoma

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ClinVar genetic disease variations for Pilocytic Astrocytoma:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KRAS NM_004985.5(KRAS):c.37G>C (p.Gly13Arg) SNV Pathogenic
 12593 rs121913535 GRCh37: 12:25398282-25398282
GRCh38: 12:25245348-25245348
2 SDHA NM_004168.4(SDHA):c.91C>T (p.Arg31Ter) SNV Pathogenic
 142601 rs142441643 GRCh37: 5:223624-223624
GRCh38: 5:223509-223509
3 NF1 NM_001042492.3(NF1):c.6166A>T (p.Lys2056Ter) SNV Pathogenic
 590842 rs1555534667 GRCh37: 17:29663671-29663671
GRCh38: 17:31336653-31336653
4 FLCN NM_144997.7(FLCN):c.872-1G>T SNV Likely Pathogenic
 620629 rs1567813248 GRCh37: 17:17122524-17122524
GRCh38: 17:17219210-17219210
5 PALB2 NM_024675.4(PALB2):c.1478C>T (p.Pro493Leu) SNV Uncertain Significance
 225853 rs770965402 GRCh37: 16:23646389-23646389
GRCh38: 16:23635068-23635068
6 RET NM_020975.6(RET):c.1344C>G (p.Asn448Lys) SNV Uncertain Significance
 136098 rs549907428 GRCh37: 10:43606735-43606735
GRCh38: 10:43111287-43111287

Cosmic variations for Pilocytic Astrocytoma:

8 (show top 50) (show all 20654)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)		 Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM92479864 SH2B3 central nervous system,hypothalamus,glioma,astrocytoma c.622G>C p.E208Q 12:111418767-111418767 10
2 COSM138780919 RNF43 central nervous system,hypothalamus,glioma,astrocytoma c.194C>T p.P65L 17:58363282-58363282 10
3 COSM138890639 RNF43 central nervous system,hypothalamus,glioma,astrocytoma c.575C>T p.P192L 17:58363282-58363282 10
4 COSM140182680 RNF43 central nervous system,hypothalamus,glioma,astrocytoma c.575C>T p.P192L 17:58363282-58363282 10
5 COSM105860641 RNF43 central nervous system,hypothalamus,glioma,astrocytoma c.575C>T p.P192L 17:58363282-58363282 10
6 COSM139851454 RNF43 central nervous system,hypothalamus,glioma,astrocytoma c.194C>T p.P65L 17:58363282-58363282 10
7 COSM139290217 RNF43 central nervous system,hypothalamus,glioma,astrocytoma c.452C>T p.P151L 17:58363282-58363282 10
8 COSM91776390 PPP2R1A central nervous system,hypothalamus,glioma,astrocytoma c.259C>T p.H87Y 19:52206052-52206052 10
9 COSM112261816 PPP2R1A central nervous system,hypothalamus,glioma,astrocytoma c.-279C>T p.? 19:52206052-52206052 10
10 COSM143143556 ASXL1 central nervous system,hypothalamus,glioma,astrocytoma c.502A>T p.M168L 20:32429368-32429368 10
11 COSM99497786 ASXL1 central nervous system,hypothalamus,glioma,astrocytoma c.502A>T p.M168L 20:32429368-32429368 10
12 COSM150871862 ASXL1 central nervous system,hypothalamus,glioma,astrocytoma c.472A>T p.M158L 20:32429368-32429368 10
13 COSM87595541 ASXL1 central nervous system,hypothalamus,glioma,astrocytoma c.487A>T p.M163L 20:32429368-32429368 10
14 COSM142020917 ASXL1 central nervous system,hypothalamus,glioma,astrocytoma c.502A>T p.M168L 20:32429368-32429368 10
15 COSM122405405 APC central nervous system,hypothalamus,glioma,astrocytoma c.3352A>G p.N1118D 5:112838946-112838946 10
16 COSM88889981 APC central nervous system,hypothalamus,glioma,astrocytoma c.3352A>G p.N1118D 5:112838946-112838946 10
17 COSM85192834 ZW10 central nervous system,brain,glioma,astrocytoma Grade IV c.2140C>T p.P714S 11:113736699-113736699 7
18 COSM86922763 ZSWIM4 central nervous system,brain,glioma,astrocytoma Grade IV c.266C>T p.P89L 19:13799832-13799832 7
19 COSM88263742 ZRSR2 central nervous system,brain,glioma,astrocytoma Grade IV c.340C>T p.Q114* 23:15804138-15804138 7
20 COSM88261602 ZRSR2 central nervous system,brain,glioma,astrocytoma Grade IV c.961C>T p.P321S 23:15822754-15822754 7
21 COSM88263021 ZRSR2 central nervous system,brain,glioma,astrocytoma Grade IV c.260G>A p.R87K 23:15803744-15803744 7
22 COSM88261596 ZRSR2 central nervous system,brain,glioma,astrocytoma Grade IV c.271G>A p.E91K 23:15803755-15803755 7
23 COSM88262556 ZRSR2 central nervous system,brain,glioma,NS c.220G>A p.E74K 23:15803704-15803704 7
24 COSM87830624 ZPLD1 central nervous system,brain,glioma,astrocytoma Grade IV c.393A>T p.G131= 3:102456210-102456210 7
25 COSM119316158 ZPLD1 central nervous system,brain,glioma,astrocytoma Grade IV c.345A>T p.G115= 3:102456210-102456210 7
26 COSM116178212 ZPLD1 central nervous system,brain,glioma,astrocytoma Grade IV c.345A>T p.G115= 3:102456210-102456210 7
27 COSM106156998 ZNF697 central nervous system,brain,glioma,astrocytoma Grade IV c.1550G>A p.G517D 1:119622793-119622793 7
28 COSM93171584 ZNF687 central nervous system,brain,glioma,astrocytoma Grade IV c.3651C>T p.T1217= 1:151291146-151291146 7
29 COSM93173649 ZNF687 central nervous system,brain,glioma,astrocytoma Grade IV c.2044T>A p.C682S 1:151288335-151288335 7
30 COSM93173639 ZNF687 central nervous system,brain,glioma,astrocytoma Grade IV c.2043G>C p.Q681H 1:151288334-151288334 7
31 COSM92762364 ZNF507 central nervous system,brain,glioma,astrocytoma Grade IV c.1517G>C p.R506T 19:32354347-32354347 7
32 COSM91851905 ZNF507 central nervous system,brain,glioma,astrocytoma Grade IV c.1517G>C p.R506T 19:32354347-32354347 7
33 COSM130988554 ZNF507 central nervous system,brain,glioma,astrocytoma Grade IV c.1517G>C p.R506T 19:32354347-32354347 7
34 COSM141250987 ZNF473 central nervous system,brain,glioma,astrocytoma Grade IV c.42C>T p.D14= 19:50039193-50039193 7
35 COSM84172269 ZNF473 central nervous system,brain,glioma,astrocytoma Grade IV c.42C>T p.D14= 19:50039193-50039193 7
36 COSM141790125 ZNF473 central nervous system,brain,glioma,astrocytoma Grade IV c.42C>T p.D14= 19:50039193-50039193 7
37 COSM99924035 ZNF473 central nervous system,brain,glioma,astrocytoma Grade IV c.42C>T p.D14= 19:50039193-50039193 7
38 COSM111538647 ZNF473 central nervous system,brain,glioma,astrocytoma Grade IV c.6C>T p.D2= 19:50039193-50039193 7
39 COSM84507966 ZNF276 central nervous system,brain,glioma,astrocytoma Grade IV c.*664G>A p.? 16:89738910-89738910 7
40 COSM102909520 ZMYND8 central nervous system,brain,glioma,astrocytoma Grade IV c.2116G>A p.D706N 20:47246116-47246116 7
41 COSM116582422 ZMYND8 central nervous system,brain,glioma,astrocytoma Grade IV c.2176G>A p.D726N 20:47246116-47246116 7
42 COSM92864918 ZMYND8 central nervous system,brain,glioma,astrocytoma Grade IV c.2102T>G p.V701G 20:47246130-47246130 7
43 COSM111370233 ZMYND8 central nervous system,brain,glioma,astrocytoma Grade IV c.2116G>A p.D706N 20:47246116-47246116 7
44 COSM91410147 ZMYND8 central nervous system,brain,glioma,astrocytoma Grade IV c.2116G>A p.D706N 20:47246116-47246116 7
45 COSM97055096 ZMYND8 central nervous system,brain,glioma,astrocytoma Grade IV c.1913T>G p.V638G 20:47246130-47246130 7
46 COSM112970642 ZMYND8 central nervous system,brain,glioma,astrocytoma Grade IV c.2176G>A p.D726N 20:47246116-47246116 7
47 COSM92871777 ZMYND8 central nervous system,brain,glioma,astrocytoma Grade IV c.2116G>A p.D706N 20:47246116-47246116 7
48 COSM85475347 ZMYND8 central nervous system,brain,glioma,astrocytoma Grade IV c.2102T>G p.V701G 20:47246130-47246130 7
49 COSM143801239 ZMYND8 central nervous system,brain,glioma,astrocytoma Grade IV c.2041G>A p.D681N 20:47246116-47246116 7
50 COSM114834078 ZMYND8 central nervous system,brain,glioma,astrocytoma Grade IV c.2087T>G p.V696G 20:47246130-47246130 7

Copy number variations for Pilocytic Astrocytoma from CNVD:

6 (show all 22)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 38161 10 1 3000000 Gain DIP2C Pilocytic astrocytoma
2 40599 10 130600000 135534747 Loss CALY Pilocytic astrocytoma
3 64537 12 129300000 133851895 Loss BCL7A Pilocytic astrocytoma
4 84233 14 24600000 33300000 Loss FOXG1 Pilocytic astrocytoma
5 97079 15 98500000 102531392 Loss CERS3 Pilocytic astrocytoma
6 112680 17 40811265 40819024 Loss TUBG2 Pilocytic astrocytoma
7 112684 17 40834631 40852011 Loss CNTNAP1 Pilocytic astrocytoma
8 220399 7 138200000 143100000 Amplification Pilocytic astrocytoma
9 227901 7 72200000 77500000 Loss BCL7B Pilocytic astrocytoma
10 230764 8 1 2200000 Loss Pilocytic astrocytoma
11 234563 8 136400000 146364022 Gain COL22A1 Pilocytic astrocytoma
12 234873 8 139900000 146364022 Gain ZFTRAF1 Pilocytic astrocytoma
13 234878 8 139900000 146364022 Gain FOXH1 Pilocytic astrocytoma
14 234881 8 139900000 146364022 Gain GPT Pilocytic astrocytoma
15 234884 8 139900000 146364022 Gain KIFC2 Pilocytic astrocytoma
16 234886 8 139900000 146364022 Gain LRRC14 Pilocytic astrocytoma
17 234888 8 139900000 146364022 Gain LRRC24 Pilocytic astrocytoma
18 234890 8 139900000 146364022 Gain MFSD3 Pilocytic astrocytoma
19 234893 8 139900000 146364022 Gain PPP1R16A Pilocytic astrocytoma
20 234897 8 139900000 146364022 Gain RECQL4 Pilocytic astrocytoma
21 244900 9 1 2200000 Loss KANK1 Pilocytic astrocytoma
22 256191 9 9000000 28000000 Loss SH3GL2 Pilocytic astrocytoma
Sources

Expression for Pilocytic Astrocytoma

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Search GEO for disease gene expression data for Pilocytic Astrocytoma.
Sources

Pathways for Pilocytic Astrocytoma

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Pathways related to Pilocytic Astrocytoma according to GeneCards Suite gene sharing:

(show top 50) (show all 133)
# Super pathways Score Top Affiliating Genes
1
ERK Signaling 64
Show member pathways
 13.91 BRAF CDKN2A HRAS KRAS NF1 NRAS
2
Signal Transduction 66
13.87 BRAF GFAP HRAS KRAS NF1 NRAS
3
Disease 66
Show member pathways
 13.87 BRAF CDKN2A HRAS IDH1 KIAA1549 KRAS
4
Prolactin Signaling 64
Show member pathways
 13.51 BRAF CDKN2A HRAS KRAS MGMT NF1
5
RAF/MAP kinase cascade 66
Show member pathways
 13.46 BRAF HRAS KIAA1549 KRAS NF1 NRAS
6
Phospholipase-C Pathway 64
Show member pathways
 13.16 BRAF HRAS KRAS NRAS PTEN RAF1
7
PI3K-Akt signaling pathway 74
Show member pathways
 13.05 TP53 RAF1 PTEN NRAS KRAS HRAS
8
Sertoli-Sertoli Cell Junction Dynamics 64
Show member pathways
 13.03 RAF1 PTEN NRAS KRAS HRAS BRAF
9
NFAT and Cardiac Hypertrophy 64
Show member pathways
 12.97 RAF1 PTEN NRAS KRAS HRAS BRAF
10
Beta-Adrenergic Signaling 64
Show member pathways
 12.96 RAF1 NRAS KRAS HRAS BRAF
11
Toll-like receptor signaling pathway 74
Show member pathways
 12.95 TP53 RAF1 NRAS KRAS HRAS BRAF
12
IL-9 Signaling Pathways 65
Show member pathways
 12.95 BRAF HRAS KRAS NRAS PTEN PTPN11
13
CCR5 Pathway in Macrophages 64
Show member pathways
 12.94 RAF1 NRAS KRAS HRAS BRAF
14
Development Angiotensin activation of ERK 22
Show member pathways
 12.93 RAF1 NRAS KRAS HRAS BRAF
15
Signaling by Receptor Tyrosine Kinases 66
12.93 BRAF GFAP HRAS KRAS NRAS PTPN11
16
Alzheimer's disease and miRNA effects 74
Show member pathways
 12.92 BRAF HRAS KRAS NRAS RAF1
17
fMLP Pathway 64
Show member pathways
 12.86 TP53 RAF1 NRAS KRAS HRAS
18
MAPK-Erk Pathway 67
Show member pathways
 12.84 BRAF HRAS KRAS NRAS RAF1
19
Malignant pleural mesothelioma 74
12.79 TP53 RAF1 PTEN HRAS CDKN2A
20
G-AlphaQ Signaling 64
Show member pathways
 12.78 RAF1 NRAS KRAS HRAS BRAF
21
G-protein signaling G-Protein alpha-i signaling cascades 22
Show member pathways
 12.77 RAF1 NRAS KRAS HRAS BRAF
22
4-1BB Pathway 64
Show member pathways
 12.77 TP53 RAF1 NRAS KRAS HRAS BRAF
23
Signaling downstream of RAS mutants 66
Show member pathways
 12.76 BRAF HRAS KRAS NRAS RAF1
24
CNTF Signaling 64
Show member pathways
 12.76 RAF1 PTPN11 NRAS KRAS HRAS BRAF
25
G-Beta Gamma Signaling 64
Show member pathways
 12.76 RAF1 NRAS KRAS HRAS CDKN2A BRAF
26
Overview of interferons-mediated signaling pathway 74
Show member pathways
 12.74 TP53 RAF1 PTPN11 NRAS KRAS HRAS
27
Immune response IL-23 signaling pathway 22
Show member pathways
 12.69 TP53 PTPN11 NRAS KRAS HRAS
28
Negative regulation of FGFR1 signaling 66
Show member pathways
 12.69 PTPN11 NRAS KRAS HRAS BRAF
29
Signaling by NTRKs 66
Show member pathways
 12.66 PTPN11 NRAS KRAS HRAS BRAF
30
Development EGFR signaling pathway 22
Show member pathways
 12.6 TP53 RAF1 NRAS KRAS HRAS BRAF
31
Endometrial cancer 74
Show member pathways
 12.59 TP53 RAF1 PTEN NRAS NF1 KRAS
32
Hepatocyte growth factor receptor signaling 74
Show member pathways
 12.56 TP53 RAF1 PTPN11 PTEN HRAS BRAF
33
Development Dopamine D2 receptor transactivation of EGFR 22
Show member pathways
 12.52 RAF1 PTPN11 NRAS KRAS HRAS
34
NF-kappaB Pathway 70
Show member pathways
 12.51 TP53 NRAS KRAS HRAS
35
CLEC7A (Dectin-1) signaling 66
Show member pathways
 12.51 RAF1 NRAS KRAS HRAS
36
Development FGFR signaling pathway 22
Show member pathways
 12.51 HRAS KRAS NRAS PTPN11 RAF1
37
MET promotes cell motility 66
Show member pathways
 12.5 PTPN11 NRAS KRAS HRAS
38
Development VEGF signaling via VEGFR2 - generic cascades 22
Show member pathways
 12.5 RAF1 PTPN11 NF1 KRAS HRAS BRAF
39
G-protein signaling RAC1 in cellular process 22
Show member pathways
 12.48 RAF1 NRAS KRAS HRAS BRAF
40
MAPK signaling pathway 74
12.44 BRAF HRAS KRAS NF1 NRAS RAF1
41
Immune response Fc epsilon RI pathway 22
Show member pathways
 12.42 RAF1 PTPN11 PTEN HRAS
42
Toll Comparative Pathway 64
Show member pathways
 12.4 TP53 RAF1 PTPN11 HRAS
43
B Cell Receptor Signaling Pathway 67
Show member pathways
 12.4 RAF1 PTPN11 PTEN NRAS KRAS HRAS
44
Breast cancer pathway 74
Show member pathways
 12.4 BRAF HRAS KRAS NRAS PTEN PTPN11
45
Focal adhesion 74
12.38 RAF1 PTEN HRAS BRAF
46
PDGFR-beta signaling pathway 61
Show member pathways
 12.37 RAF1 PTPN11 PTEN BRAF
47
Signaling by FGFR2 66
Show member pathways
 12.37 PTPN11 NRAS KRAS HRAS BRAF
48
Development IGF-1 receptor signaling 22
Show member pathways
 12.36 TP53 RAF1 PTEN HRAS
49
Integrin-mediated cell adhesion 74
Show member pathways
 12.36 RAF1 NRAS KRAS HRAS BRAF
50
Ras signaling 74
12.34 HRAS KRAS NF1 NRAS PTPN11 RAF1
Sources

GO Terms for Pilocytic Astrocytoma

About this section

Biological processes related to Pilocytic Astrocytoma according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of neuron apoptotic process GO:0043524 10.15 NES KRAS HRAS BRAF
2 negative regulation of cell population proliferation GO:0008285 10.1 TP53 RAF1 PTEN NF1 HRAS FLCN
3 positive regulation of protein phosphorylation GO:0001934 10.08 RAF1 KRAS HRAS FLCN BRAF
4 visual learning GO:0008542 10.04 NF1 KRAS BRAF
5 neuroblast proliferation GO:0007405 10 TP53 SOX10 NF1
6 fibroblast proliferation GO:0048144 9.99 HRAS NF1 TP53
7 intrinsic apoptotic signaling pathway GO:0097193 9.97 TP53 HRAS FLCN
8 neuron apoptotic process GO:0051402 9.96 TP53 NF1 NES KRAS HRAS
9 oligodendrocyte differentiation GO:0048709 9.93 SOX10 OLIG2 NF1
10 MAPK cascade GO:0000165 9.93 BRAF HRAS KRAS NF1 NRAS RAF1
11 regulation of synaptic transmission, GABAergic GO:0032228 9.85 KRAS NF1 PTEN
12 glial cell proliferation GO:0014009 9.8 TP53 NF1 KRAS
13 Schwann cell proliferation GO:0014010 9.76 NF1 GFAP
14 forebrain astrocyte development GO:0021897 9.73 NF1 KRAS
15 regulation of axon regeneration GO:0048679 9.56 PTEN BRAF
16 regulation of long-term neuronal synaptic plasticity GO:0048169 9.56 SYP NF1 KRAS HRAS
17 Ras protein signal transduction GO:0007265 9.4 TP53 NRAS NF1 KRAS HRAS CDKN2A

Molecular functions related to Pilocytic Astrocytoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.6 TP53 SYP SOX10 RAF1 PTEN OLIG2
2 G protein activity GO:0003925 9.43 NRAS KRAS HRAS
Sources

Sources for Pilocytic Astrocytoma

About this section
2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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