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MCID: PLC011
MIFTS: 57

Pilocytic Astrocytoma

Categories: Cancer diseases, Eye diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Pilocytic Astrocytoma

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MalaCards integrated aliases for Pilocytic Astrocytoma:

Name: Pilocytic Astrocytoma 12 20 58 29 54 6 15 71
Juvenile Pilocytic Astrocytoma 20 71
Grade I Astrocytic Tumor 12
Piloid Astrocytoma 12

Characteristics:

Orphanet epidemiological data:

58
pilocytic astrocytoma
Inheritance: Not applicable; Age of onset: All ages;

Classifications:

MalaCards categories:
Global: Rare diseases Cancer diseases
Anatomical: Neuronal diseases Eye diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:4851
MeSH 44 D001254
NCIt 50 C4047
SNOMED-CT 67 67859002
ICD10 via Orphanet 33 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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GARD : 20 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. This type of tumor can often be cured with surgery.

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 HIV Life Cycle. The drugs Peginterferon alfa-2b and Lenalidomide have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and cerebellum, and related phenotypes are Decreased viability and Decreased viability

Disease Ontology : 12 A pediatric low-grade glioma that is characterized by cells that look like fibers when viewed under a microscope and is located in the brain.

Wikipedia : 74 A pilocytic astrocytoma (and its variant juvenile pilomyxoid astrocytoma) is a brain tumor that occurs... 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 459)
# Related Disease Score Top Affiliating Genes
1 childhood pilocytic astrocytoma 33.3 NF1 KIAA1549 IDH1 BRAF
2 juvenile pilocytic astrocytoma 33.3 TIMP3 NF1 KIAA1549 IDH1 HIPK2
3 pilocytic astrocytoma of cerebellum 33.1 NF1 KIAA1549 IDH1 BRAF
4 pilomyxoid astrocytoma 32.3 RAF1 NF1 KRAS KIAA1549 IDH1 GFAP
5 malignant astrocytoma 32.2 TP53 OLIG2 NF1 KIAA1549 IDH1 GFAP
6 neurofibromatosis 31.9 PTPN11 NF1 KRAS HRAS
7 cerebellar astrocytoma 31.4 NF1 KIAA1549 IDH1 BRAF
8 ganglioglioma 31.4 TP53 NF1 GFAP BRAF
9 benign ependymoma 31.4 NF1 KIAA1549 IDH1 GFAP
10 glioma 31.4 TP53 NF1 IDH1 FGFR1 CDKN2A BRAF
11 obstructive hydrocephalus 31.4 OLIG2 NF1 GFAP
12 low-grade astrocytoma 31.3 TP53 IDH1 CDKN2A
13 neurilemmoma 31.2 SOX10 NF1 GFAP
14 glioblastoma 31.2 TP53 RAF1 NF1 IDH1 HRAS GFAP
15 dysembryoplastic neuroepithelial tumor 31.2 OLIG2 KIAA1549 IDH1 GFAP FGFR1
16 anaplastic astrocytoma 31.2 TP53 OLIG2 IDH1 GFAP CDKN2A ATRX
17 diffuse astrocytoma 31.0 TP53 OLIG2 NF1 KIAA1549 IDH1 GFAP
18 meningioma, familial 31.0 TP53 SOX10 PTPN11 NF1 KIAA1549 GFAP
19 oligodendroglioma 30.9 TP53 SOX10 OLIG2 NF1 IDH1 GFAP
20 medulloblastoma 30.9 TP53 TIMP3 NF1 IDH1 HRAS GFAP
21 adenoma 30.9 TP53 KRAS CDKN2A BRAF APC
22 pleomorphic xanthoastrocytoma 30.9 TP53 NF1 KIAA1549 IDH1 GFAP BRAF
23 craniopharyngioma 30.8 NF1 BRAF APC
24 mature teratoma 30.7 TP53 KRAS BRAF
25 supratentorial primitive neuroectodermal tumor 30.6 OLIG2 IDH1 GFAP APC
26 high-grade astrocytoma 30.6 TP53 IDH1 ATRX
27 squamous cell papilloma 30.6 TP53 HRAS CDKN2A
28 serous cystadenocarcinoma 30.6 TP53 KRAS HRAS BRAF
29 peripheral nervous system disease 30.6 TP53 SOX10 NF1 HRAS GFAP CDKN2A
30 pseudo-turner syndrome 30.6 RAF1 PTPN11 KRAS HRAS BRAF
31 encephalocraniocutaneous lipomatosis 30.6 KRAS FGFR1
32 choroid plexus cancer 30.6 TP53 GFAP ATRX
33 gemistocytic astrocytoma 30.6 TP53 IDH1 GFAP ATRX
34 cystic teratoma 30.5 TP53 KRAS GFAP CDKN2A
35 ovary adenocarcinoma 30.5 TP53 KRAS HRAS CDKN2A BRAF
36 brain glioma 30.5 TP53 NF1 IDH1 GFAP ATRX
37 noonan syndrome 1 30.4 RAF1 PTPN11 NF1 KRAS HRAS CDKN2A
38 neurofibromatosis, type i 30.4 TP53 SOX10 SDHA RAF1 PTPN11 OLIG2
39 gliofibroma 30.4 TP53 PTPN11 NF1 KIAA1549 IDH1 GFAP
40 atypical teratoid rhabdoid tumor 30.4 TP53 GFAP ATRX
41 leukemia, acute lymphoblastic 30.4 TP53 PTPN11 KRAS HRAS FGFR1 CDKN2A
42 neuroblastoma 30.3 TP53 PTPN11 NF1 HRAS FGFR1 CDKN2A
43 brain cancer 30.3 TP53 PTPN11 OLIG2 NF1 IDH1 HRAS
44 spinal disease 30.3 TP53 OLIG2 NF1 KIAA1549 IDH1 GFAP
45 leukemia 30.3 TP53 RAF1 PTPN11 NF1 KRAS HRAS
46 adenocarcinoma 30.2 TP53 TIMP3 RAF1 KRAS HRAS FGFR1
47 central nervous system cancer 30.2 TP53 OLIG2 NF1 KIAA1549 IDH1 GFAP
48 gliosarcoma 30.1 TP53 OLIG2 NF1 IDH1 HRAS GFAP
49 glioma susceptibility 1 11.3
50 glial tumor 11.3

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:

26 (show all 35)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10.55 BRAF KRAS HRAS
2 Decreased viability GR00055-A-2 10.55 BRAF KRAS HRAS
3 Decreased viability GR00055-A-3 10.55 KRAS
4 Decreased viability GR00106-A-0 10.55 KRAS
5 Decreased viability GR00173-A 10.55 HIPK2
6 Decreased viability GR00221-A-1 10.55 KRAS RAF1 FGFR1 HRAS NF1 CDKN2A
7 Decreased viability GR00221-A-2 10.55 HIPK2 KRAS RAF1 FGFR1 HRAS NF1
8 Decreased viability GR00221-A-3 10.55 HRAS CDKN2A
9 Decreased viability GR00221-A-4 10.55 BRAF NF1 CDKN2A
10 Decreased viability GR00249-S 10.55 BRAF NF1
11 Decreased viability GR00301-A 10.55 BRAF HIPK2 KRAS RAF1
12 Decreased viability GR00381-A-1 10.55 BRAF KRAS
13 Decreased viability GR00386-A-1 10.55 FGFR1 NF1
14 Decreased viability GR00402-S-2 10.55 HIPK2 RAF1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.64 FGFR1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-112 9.64 IDH1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-125 9.64 FGFR1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.64 IDH1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-136 9.64 IDH1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.64 IDH1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.64 BRAF
22 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.64 FGFR1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-172 9.64 IDH1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.64 PTPN11
25 Increased shRNA abundance (Z-score > 2) GR00366-A-18 9.64 IDH1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-183 9.64 FGFR1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-26 9.64 FGFR1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-39 9.64 IDH1
29 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.64 FGFR1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.64 BRAF FGFR1
31 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.64 FGFR1
32 Increased shRNA abundance (Z-score > 2) GR00366-A-7 9.64 PTPN11
33 Increased shRNA abundance (Z-score > 2) GR00366-A-78 9.64 PTPN11
34 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.64 FGFR1
35 Decreased cell migration GR00055-A-3 9.16 BRAF HRAS

MGI Mouse Phenotypes related to Pilocytic Astrocytoma:

46 (show all 26)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.56 APC ATRX BRAF CDKN2A FGFR1 GFAP
2 growth/size/body region MP:0005378 10.56 APC ATRX BRAF CDKN2A FGFR1 FLCN
3 cellular MP:0005384 10.52 APC ATRX BRAF CDKN2A FGFR1 FLCN
4 homeostasis/metabolism MP:0005376 10.51 APC BRAF CDKN2A FGFR1 FLCN GFAP
5 cardiovascular system MP:0005385 10.5 APC ATRX BRAF CDKN2A FGFR1 FLCN
6 mortality/aging MP:0010768 10.47 APC ATRX BRAF CDKN2A FGFR1 FLCN
7 embryo MP:0005380 10.41 APC ATRX BRAF CDKN2A FGFR1 FLCN
8 immune system MP:0005387 10.39 APC BRAF CDKN2A FGFR1 FLCN GFAP
9 endocrine/exocrine gland MP:0005379 10.37 APC BRAF CDKN2A FGFR1 HRAS KRAS
10 craniofacial MP:0005382 10.35 APC BRAF FGFR1 HIPK2 HRAS KRAS
11 digestive/alimentary MP:0005381 10.35 APC BRAF CDKN2A FGFR1 GFAP HRAS
12 hematopoietic system MP:0005397 10.35 APC BRAF CDKN2A FGFR1 FLCN IDH1
13 muscle MP:0005369 10.32 APC BRAF CDKN2A FGFR1 GFAP HIPK2
14 integument MP:0010771 10.31 APC BRAF CDKN2A FGFR1 HRAS KRAS
15 nervous system MP:0003631 10.31 APC ATRX BRAF CDKN2A FGFR1 GFAP
16 neoplasm MP:0002006 10.23 APC BRAF CDKN2A FLCN HRAS KRAS
17 hearing/vestibular/ear MP:0005377 10.18 APC BRAF FGFR1 KRAS NF1 PTPN11
18 liver/biliary system MP:0005370 10.16 APC BRAF CDKN2A KRAS NF1 PTPN11
19 limbs/digits/tail MP:0005371 10.13 APC BRAF FGFR1 KRAS NF1 PTPN11
20 normal MP:0002873 10.11 APC BRAF FGFR1 GFAP HRAS KRAS
21 no phenotypic analysis MP:0003012 10.06 CDKN2A FGFR1 HRAS KRAS OLIG2 PTPN11
22 pigmentation MP:0001186 9.97 APC BRAF CDKN2A KRAS NF1 PTPN11
23 renal/urinary system MP:0005367 9.96 APC BRAF FGFR1 FLCN HIPK2 HRAS
24 respiratory system MP:0005388 9.93 BRAF CDKN2A HRAS IDH1 KRAS NF1
25 skeleton MP:0005390 9.8 APC BRAF CDKN2A FGFR1 HIPK2 HRAS
26 vision/eye MP:0005391 9.47 APC ATRX BRAF CDKN2A FGFR1 GFAP
Sources

Drugs & Therapeutics for Pilocytic Astrocytoma

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

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Peginterferon alfa-2b Approved Phase 2 215647-85-1, 99210-65-8
2
Lenalidomide Approved Phase 2 191732-72-6 216326
3 Anti-Infective Agents Phase 2
4 interferons Phase 2
5 Interferon alpha-2 Phase 2
6 Interferon-alpha Phase 2
7 Antiviral Agents Phase 2
8 Immunologic Factors Phase 2
9 Angiogenesis Inhibitors Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase II Study Of Pegylated Interferon ALFA-2b in Children With Recurrent or Refractory and Radiographically or Clinically Progressive Juvenile Pilocytic Astrocytomas and Optic Pathway Gliomas Recruiting NCT02343224 Phase 2 Pegylated interferon alpha-2b
2 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

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 29
Sources

Anatomical Context for Pilocytic Astrocytoma

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The Foundational Model of Anatomy Ontology organs/tissues related to Pilocytic Astrocytoma:

19
Brain

MalaCards organs/tissues related to Pilocytic Astrocytoma:

40
Brain, Spinal Cord, Cerebellum, Eye, Pineal, Endothelial, Temporal Lobe
Sources

Publications for Pilocytic Astrocytoma

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Articles related to Pilocytic Astrocytoma:

(show top 50) (show all 1496)
# Title Authors PMID Year
1
RAS pathway activation and an oncogenic RAS mutation in sporadic pilocytic astrocytoma. 61 6
16247081 2005
2
Impact of morphology, MIB-1, p53 and MGMT on outcome in pilocytic astrocytomas. 61 54
19832838 2010
3
Diversity of glial cell components in pilocytic astrocytoma. 61 54
18312545 2008
4
Further evidence for a somatic KRAS mutation in a pilocytic astrocytoma. 61 54
17712732 2007
5
Expression of SOX9 and SOX10 in central neuroepithelial tumor. 61 54
16791471 2006
6
Rapamycin causes regression of astrocytomas in tuberous sclerosis complex. 54 61
16453317 2006
7
Proteomic analysis reveals hyperactivation of the mammalian target of rapamycin pathway in neurofibromatosis 1-associated human and mouse brain tumors. 61 54
15805275 2005
8
Epithelioid glioblastoma: a case report. 54 61
18095100 2005
9
Rosette-forming glioneuronal tumor of the fourth ventricle. 54 61
12915951 2003
10
Preliminary observations on genetic alterations in pilocytic astrocytomas associated with neurofibromatosis 1. 61 54
14565158 2003
11
Marked regression of metastatic pilocytic astrocytoma during treatment with imatinib mesylate (STI-571, Gleevec): a case report and laboratory investigation. 61 54
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. 61 54
11895042 2002
13
Pilocytic astrocytomas do not show most of the genetic changes commonly seen in diffuse astrocytomas. 54 61
11119125 2000
14
Expression of vascular endothelial growth factor and its receptors in pilocytic astrocytoma. 61 54
9255258 1997
15
[Expression of glial fibrillary acidic protein and protein S-100 in cerebral astrocytic gliomas of varying degrees of malignancy (immunohistochemical study)]. 61 54
8526753 1995
16
Is it a new culprit? "TERT promoter mutation" in an aggressive pediatric pilocytic astrocytoma. 61
32813054 2021
17
Integrated molecular and clinical analysis of low-grade gliomas in children with neurofibromatosis type 1 (NF1). 61
33585982 2021
18
Intraoperative Consultation in the Diagnosis of Posterior fossa Brain Tumors following the 2016 WHO update. 61
33606311 2021
19
Evaluation of the prognostic potential of EGFL7 in pilocytic astrocytomas. 61
33191640 2021
20
Whole-Exome Sequencing of Rare Site Endometriosis-Associated Cancer. 61
33557369 2021
21
The use and efficacy of chemotherapy and radiotherapy in children and adults with pilocytic astrocytoma. 61
33131004 2021
22
Giant Cerebellar Ganglioglioma Mimicking a Pilocytic Astrocytoma. 61
33500838 2021
23
Trigeminal nerve chronic motor denervation caused by cerebellar peduncle pilocytic astrocytoma. 61
33479826 2021
24
Chemotherapy-induced changes in tumor consistency can allow gross total resection of previously unresectable brainstem pilocytic astrocytoma. 61
33500827 2021
25
Partial unilateral lentiginosis with ipsilateral Lisch nodules and pilocytic astrocytoma: Is this a type of segmental neurofibromatosis? 61
33580934 2021
26
Adult pilocytic astrocytoma in the molecular era: a comprehensive review. 61
33448230 2021
27
Peduncular hallucinosis after debulking of a third ventricular pilocytic astrocytoma: Case report and review of the literature. 61
33339693 2021
28
mRNA and miRNA Expression Analyses of the MYC/E2F/miR-17-92 Network in the Most Common Pediatric Brain Tumors. 61
33430425 2021
29
An updated histology recode for the analysis of primary malignant and nonmalignant brain and other central nervous system tumors in the Surveillance, Epidemiology, and End Results Program. 61
33506208 2021
30
Biology and grading of pleomorphic xanthoastrocytoma-what have we learned about it? 61
32619305 2021
31
A Paravermal Trans-Cerebellar Approach to the Posterior Fossa Tumor Causes Hypertrophic Olivary Degeneration by Dentate Nucleus Injury. 61
33445527 2021
32
Potential biomarkers of childhood brain tumor identified by proteomics of cerebrospinal fluid from extraventricular drainage (EVD). 61
33469081 2021
33
Genetic characterization of an aggressive optic nerve pilocytic glioma. 61
33098465 2021
34
MR imaging findings in primary spinal cord glioblastoma. 61
33193932 2021
35
Serum cytokines in astrocytic brain tumors: a prospective study. 61
33349075 2020
36
Acute post-partum vision loss due to pilocytic astrocytoma. 61
32875164 2020
37
Demonstration of Microsurgical Technique and Nuances for the Resection of a Midbrain Tectal Glioma Via the Transcollicular Approach: 3-Dimensional Operative Video. 61
33377159 2020
38
[Lacunar stroke as a very late complication of radiotherapy: value of nuclear medicine techniques]. 61
33319348 2020
39
Conditional reprograming culture conditions facilitate growth of lower grade glioma models. 61
33258947 2020
40
Effect of radiation therapy on overall survival following subtotal resection of adult pilocytic astrocytoma. 61
33222942 2020
41
The Evaluation of Radiomic Models in Distinguishing Pilocytic Astrocytoma From Cystic Oligodendroglioma With Multiparametric MRI. 61
32976261 2020
42
Intraventricular pilocytic astrocytoma in an adult patient. 61
33139987 2020
43
A 37-Year-Old Saudi Man with a Calcified Intraventricular Astrocytoma. 61
33249419 2020
44
NF-кB inhibition by DHMEQ: in vitro antiproliferative effects on pilocytic astrocytoma and concise review of the current literature. 61
32385563 2020
45
Spinal Cord Pilocytic Astrocytoma With FGFR1-TACC1 Fusion and Anaplastic Transformation. 61
33212490 2020
46
A Paramedian Supracerebellar, Infratentorial Approach for Resection of Midbrain Tumor. 61
32652277 2020
47
Pilocytic Astrocytoma: A Review of General, Clinical, and Molecular Characteristics. 61
32691644 2020
48
Clinical characteristics and long-term surgical outcomes of spinal pilocytic astrocytoma: a report of twenty cases. 61
33037477 2020
49
Malignant Ependymoblastoma Mimicking a Benign Pilocytic Astrocytoma. 61
33143022 2020
50
Reappraisal of haemorrhagic suprasellar pilocytic astrocytoma during adulthood. 61
33122224 2020
Sources

Variations for Pilocytic Astrocytoma

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ClinVar genetic disease variations for Pilocytic Astrocytoma:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NF1 NM_000267.3(NF1):c.6103A>T (p.Lys2035Ter) SNV Pathogenic 590842 rs1555534667 17:29663671-29663671 17:31336653-31336653
2 KRAS NM_004985.5(KRAS):c.37G>C (p.Gly13Arg) SNV Pathogenic 12593 rs121913535 12:25398282-25398282 12:25245348-25245348
3 SDHA NM_004168.4(SDHA):c.91C>T (p.Arg31Ter) SNV Pathogenic 142601 rs142441643 5:223624-223624 5:223509-223509
4 FLCN NM_144997.7(FLCN):c.872-1G>T SNV Likely pathogenic 620629 rs1567813248 17:17122524-17122524 17:17219210-17219210
5 RET NM_020975.6(RET):c.1344C>G (p.Asn448Lys) SNV Uncertain significance 136098 rs549907428 10:43606735-43606735 10:43111287-43111287
6 RUNX1 NM_001754.4(RUNX1):c.1243C>T (p.Gln415Ter) SNV Uncertain significance 561225 rs1397702481 21:36164632-36164632 21:34792335-34792335
7 ALK NM_004304.5(ALK):c.2633-3C>T SNV Uncertain significance 620627 rs200341945 2:29451935-29451935 2:29229069-29229069
8 PALB2 NM_024675.3(PALB2):c.1478C>T (p.Pro493Leu) SNV Uncertain significance 225853 rs770965402 16:23646389-23646389 16:23635068-23635068
9 APC NM_000038.6(APC):c.1240C>T (p.Arg414Cys) SNV Uncertain significance 797 rs137854567 5:112154969-112154969 5:112819272-112819272

Copy number variations for Pilocytic Astrocytoma from CNVD:

7 (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 CYHR1 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.
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Pathways for Pilocytic Astrocytoma

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

(show top 50) (show all 103)
# Super pathways Score Top Affiliating Genes
1
ERK Signaling 63
Show member pathways
 13.85 TP53 TIMP3 SOX10 RAF1 NF1 KRAS
2
HIV Life Cycle 65
Show member pathways
 13.8 RAF1 PTPN11 NF1 KRAS KIAA1549 IDH1
3
TGF-Beta Pathway 63
Show member pathways
 13.62 TP53 TIMP3 RAF1 PTPN11 KRAS HRAS
4
Cytokine Signaling in Immune system 65
Show member pathways
 13.45 TP53 RAF1 PTPN11 NF1 KRAS HRAS
5
Nanog in Mammalian ESC Pluripotency 63
Show member pathways
 13.36 TIMP3 RAF1 KRAS HRAS FGFR1 BRAF
6
Phospholipase-C Pathway 63
Show member pathways
 13.15 TP53 TIMP3 RAF1 KRAS HRAS FGFR1
7
PI3K-Akt signaling pathway 36
Show member pathways
 13.07 TP53 RAF1 KRAS HRAS FGFR1 APC
8
Aldosterone synthesis and secretion 36
Show member pathways
 12.99 RAF1 KRAS HRAS CDKN2A BRAF APC
9
Pathways in cancer 36
12.88 TP53 RAF1 KRAS HRAS FGFR1 CDKN2A
10
Common Cytokine Receptor Gamma-Chain Family Signaling Pathways 64
Show member pathways
 12.85 RAF1 PTPN11 KRAS HRAS BRAF
11
MAPK signaling pathway 36 1
12.84 TP53 RAF1 NF1 KRAS HRAS FGFR1
12
Ras signaling pathway 36
Show member pathways
 12.81 RAF1 PTPN11 NF1 KRAS HRAS FGFR1
13
Downstream signaling events of B Cell Receptor (BCR) 65
Show member pathways
 12.8 TP53 PTPN11 KRAS HRAS FGFR1
14
Apoptosis Modulation and Signaling 1
Show member pathways
 12.8 TP53 RAF1 KRAS HRAS HIPK2 CDKN2A
15
Endometrial cancer 36
Show member pathways
 12.8 TP53 RAF1 PTPN11 KRAS HRAS FGFR1
16
Gastric cancer 36
Show member pathways
 12.79 TP53 RAF1 KRAS HRAS FGFR1 CDKN2A
17
Development HGF signaling pathway 23
Show member pathways
 12.77 TP53 RAF1 PTPN11 KRAS HRAS BRAF
18
4-1BB Pathway 63
Show member pathways
 12.75 TP53 RAF1 KRAS HRAS BRAF
19
Regulation of actin cytoskeleton 36 1
12.73 RAF1 KRAS HRAS FGFR1 BRAF APC
20
Glioma 36
Show member pathways
 12.7 TP53 RAF1 NF1 KRAS HRAS FGFR1
21
Negative regulation of FGFR1 signaling 65
Show member pathways
 12.67 PTPN11 KRAS HRAS FGFR1 BRAF
22
Immune response Role of DAP12 receptors in NK cells 23
Show member pathways
 12.61 RAF1 PTPN11 KRAS HRAS BRAF
23
ErbB signaling pathway 36 1
Show member pathways
 12.59 TP53 RAF1 PTPN11 NF1 KRAS HRAS
24
VEGF Signaling 66
Show member pathways
 12.58 TP53 TIMP3 RAF1 KRAS HRAS FGFR1
25
MicroRNAs in cancer 36
12.58 TP53 TIMP3 RAF1 KRAS HRAS CDKN2A
26
Apoptosis Pathway 70
Show member pathways
 12.5 TP53 KRAS HRAS FGFR1
27
B cell receptor signaling pathway (KEGG) 36
Show member pathways
 12.5 RAF1 PTPN11 KRAS HRAS BRAF
28
Development FGFR signaling pathway 23
Show member pathways
 12.5 RAF1 PTPN11 KRAS HRAS FGFR1
29
JAK-STAT signaling pathway 36
Show member pathways
 12.48 RAF1 PTPN11 HRAS GFAP
30
Development VEGF signaling via VEGFR2 - generic cascades 23
Show member pathways
 12.48 RAF1 PTPN11 NF1 KRAS HRAS BRAF
31
Phospholipase D signaling pathway 36
Show member pathways
 12.47 RAF1 PTPN11 KRAS HRAS
32
G-protein signaling RAC1 in cellular process 23
Show member pathways
 12.47 TIMP3 RAF1 KRAS HRAS FGFR1 BRAF
33
Development IGF-1 receptor signaling 23
Show member pathways
 12.46 TP53 RAF1 PTPN11 HRAS
34
Development ERBB-family signaling 23
Show member pathways
 12.43 RAF1 KRAS HRAS BRAF
35
Human T-cell leukemia virus 1 infection 36
12.41 TP53 KRAS HRAS CDKN2A
36
CNTF Signaling 63
Show member pathways
 12.41 RAF1 KRAS HRAS BRAF
37
Toll Comparative Pathway 63
Show member pathways
 12.41 TP53 RAF1 PTPN11 HRAS FGFR1
38
Paradoxical activation of RAF signaling by kinase inactive BRAF 65
Show member pathways
 12.4 RAF1 NF1 KRAS HRAS BRAF
39
Translation Non-genomic (rapid) action of Androgen Receptor 23
Show member pathways
 12.39 TP53 RAF1 HRAS APC
40
mTOR signaling pathway (KEGG) 36
Show member pathways
 12.39 TP53 RAF1 KRAS HRAS FLCN FGFR1
41
Viral carcinogenesis 36
12.38 TP53 KRAS HRAS CDKN2A
42
Signaling by FGFR2 65
Show member pathways
 12.37 PTPN11 KRAS HRAS FGFR1 BRAF
43
Immune response IFN alpha/beta signaling pathway 23
Show member pathways
 12.36 TP53 TIMP3 PTPN11 KRAS FGFR1
44
Axon guidance 36
12.32 RAF1 PTPN11 KRAS HRAS
45
MAPK Signaling: Mitogen Stimulation Pathway 64
Show member pathways
 12.32 TP53 RAF1 KRAS HRAS FGFR1 BRAF
46
C-type lectin receptor signaling pathway 36
Show member pathways
 12.3 RAF1 PTPN11 KRAS HRAS
47
EGF/EGFR Signaling Pathway 1
12.29 RAF1 PTPN11 KRAS HRAS BRAF
48
Colorectal Cancer Metastasis 63
12.28 TP53 KRAS BRAF APC
49
mTOR Pathway 70
Show member pathways
 12.27 TP53 RAF1 KRAS HRAS BRAF
50
Integrated Breast Cancer Pathway 1
12.24 TP53 NF1 KRAS HIPK2 BRAF
Sources

GO Terms for Pilocytic Astrocytoma

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Cellular components related to Pilocytic Astrocytoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 10.07 TP53 RAF1 PTPN11 NF1 KRAS IDH1
2 nucleus GO:0005634 10.03 TP53 TIMP3 SOX10 RAF1 PTPN11 OLIG2
3 mitochondrion GO:0005739 9.61 TP53 SOX10 SDHA RAF1 PTPN11 KRAS
4 cytoplasm GO:0005737 9.53 TP53 SOX10 RAF1 PTPN11 OLIG2 NF1

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of apoptotic process GO:0043065 9.92 TP53 NF1 FLCN CDKN2A APC
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.92 TP53 SOX10 RAF1 HRAS HIPK2 FLCN
3 heart development GO:0007507 9.9 TP53 RAF1 PTPN11 NF1
4 positive regulation of gene expression GO:0010628 9.88 TP53 SOX10 KRAS HRAS CDKN2A BRAF
5 liver development GO:0001889 9.78 NF1 KRAS HRAS
6 negative regulation of neuron apoptotic process GO:0043524 9.78 KRAS HRAS HIPK2 BRAF
7 multicellular organism growth GO:0035264 9.77 TP53 PTPN11 ATRX
8 cell cycle arrest GO:0007050 9.76 TP53 HRAS CDKN2A APC
9 cellular response to drug GO:0035690 9.74 TP53 SOX10 BRAF
10 negative regulation of cell proliferation GO:0008285 9.73 TP53 RAF1 NF1 HRAS CDKN2A APC
11 positive regulation of MAP kinase activity GO:0043406 9.71 KRAS HRAS FGFR1
12 regulation of cell differentiation GO:0045595 9.69 RAF1 FGFR1 APC
13 visual learning GO:0008542 9.67 NF1 KRAS BRAF
14 intrinsic apoptotic signaling pathway GO:0097193 9.61 TP53 HRAS HIPK2
15 Bergmann glial cell differentiation GO:0060020 9.58 PTPN11 GFAP
16 regulation of protein export from nucleus GO:0046825 9.58 PTPN11 CDKN2A
17 response to isolation stress GO:0035900 9.56 KRAS HRAS
18 negative regulation of neuroblast proliferation GO:0007406 9.55 TP53 NF1
19 positive regulation of protein phosphorylation GO:0001934 9.55 RAF1 KRAS HRAS HIPK2 FLCN
20 MAPK cascade GO:0000165 9.43 RAF1 NF1 KRAS HRAS FGFR1 BRAF
21 forebrain astrocyte development GO:0021897 9.37 NF1 KRAS
22 Ras protein signal transduction GO:0007265 9.02 TP53 NF1 KRAS HRAS CDKN2A

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.3 TP53 TIMP3 SOX10 SDHA RAF1 PTPN11
2 protein-containing complex binding GO:0044877 9.35 RAF1 KRAS HRAS FLCN BRAF
3 identical protein binding GO:0042802 9.28 TP53 SOX10 RAF1 OLIG2 KRAS IDH1
4 bacterial-type RNA polymerase transcriptional activator activity, sequence-specific DNA binding GO:0001216 9.26 TP53 SOX10
5 MDM2/MDM4 family protein binding GO:0097371 9.16 TP53 CDKN2A
Sources

Sources for Pilocytic Astrocytoma

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
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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