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GLM1
MCID: GLM040
MIFTS: 70

Glioma Susceptibility 1 (GLM1)

Categories: Cancer diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Glioma Susceptibility 1

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MalaCards integrated aliases for Glioma Susceptibility 1:

Name: Glioma Susceptibility 1 57 29 6
Astrocytoma 58 72 29 54 6 17 70
Glioma, Susceptibility to, Somatic 57 29
Glioblastoma Multiforme 72 70
Glioblastoma, Somatic 57 13
Oligodendroglioma 72 70
Glioma 72 70
Glm1 57 72
Well Differentiated Oligodendroglioma 70
Glioma, Susceptibility, Type 1 39
Familial Glioma of Brain 72
Cerebral Astrocytoma 70
Astrocytic Tumor 58
Ependymal Tumor 58
Glioma Somatic 57
Glioblastoma 70
Glioma 1 72
Gbm 72
Glm 72

Characteristics:

Orphanet epidemiological data:

58
ependymal tumor
Prevalence: 1-9/1000000 (Europe),1-9/100000 (Europe),1-9/1000000 (United Kingdom); Age of onset: All ages; Age of death: any age;
astrocytoma
Prevalence: 1-9/100000 (Europe); Age of onset: All ages; Age of death: any age;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
somatic mutation
autosomal dominant

Miscellaneous:
gliomas may occur in association with other hereditary tumor syndromes (see )


HPO:

31
glioma susceptibility 1:
Inheritance autosomal dominant inheritance somatic mutation


Classifications:

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


External Ids:

OMIM® 57 137800
OMIM Phenotypic Series 57 PS137800
MeSH 44 D005910
MESH via Orphanet 45 D001254
ICD10 via Orphanet 33 C71.7
UMLS via Orphanet 71 C0004114 C0014474
Orphanet 58 ORPHA301 ORPHA94
UMLS 70 C0004114 C0017636 C0017638 more
Sources

Summaries for Glioma Susceptibility 1

About this section
OMIM® : 57 Gliomas are central nervous system neoplasms derived from glial cells and comprise astrocytomas, glioblastoma multiforme, oligodendrogliomas, ependymomas, and subependymomas. Glial cells can show various degrees of differentiation even within the same tumor (summary by Kyritsis et al., 2010). Ependymomas are rare glial tumors of the brain and spinal cord (Yokota et al., 2003). Subependymomas are unusual tumors believed to arise from the bipotential subependymal cell, which normally differentiates into either ependymal cells or astrocytes. They were characterized as a distinct entity by Scheinker (1945). They tend to be slow-growing, noninvasive, and located in the ventricular system, septum pellucidum, cerebral aqueduct, or proximal spinal cord (summary by Ryken et al., 1994). Gliomas are known to occur in association with several other well-defined hereditary tumor syndromes such as mismatch repair cancer syndrome (see 276300), melanoma-astrocytoma syndrome (155755), neurofibromatosis-1 (NF1; 162200) and NF2 (101000), and tuberous sclerosis (TSC1; 191100). Familial clustering of gliomas may occur in the absence of these tumor syndromes, however. (137800) (Updated 05-Apr-2021)

MalaCards based summary : Glioma Susceptibility 1, also known as astrocytoma, is related to childhood brain stem glioma and adult oligodendroglioma, and has symptoms including seizures and headache. An important gene associated with Glioma Susceptibility 1 is TP53 (Tumor Protein P53), and among its related pathways/superpathways are Central carbon metabolism in cancer and Cytosine methylation. The drugs Midazolam and Phenytoin have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and t cells, and related phenotypes are astrocytoma and ependymoma

UniProtKB/Swiss-Prot : 72 Glioma: Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes.
Glioma 1: Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes.

Sources

Related Diseases for Glioma Susceptibility 1

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Diseases in the Glioma Susceptibility 1 family:

Glioma Susceptibility 4 Glioma Susceptibility 2
Glioma Susceptibility 3 Glioma Susceptibility 5
Glioma Susceptibility 6 Glioma Susceptibility 7
Glioma Susceptibility 8 Glioma Susceptibility 9

Diseases related to Glioma Susceptibility 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1463)
# Related Disease Score Top Affiliating Genes
1 childhood brain stem glioma 33.1 IDH1 H3C1 H3-3A
2 adult oligodendroglioma 32.9 IDH2 IDH1 H3-3A
3 spinal cord oligodendroglioma 32.8 TP53 IDH1
4 childhood pilocytic astrocytoma 32.8 IDH1 H3-3A
5 childhood oligodendroglioma 32.8 IDH2 IDH1 H3-3A
6 mixed oligodendroglioma-astrocytoma 32.7 TP53 IDH2 IDH1
7 adult brain stem glioma 32.6 IDH2 IDH1 H3-3A
8 anaplastic astrocytoma 32.1 TP53 IDH2 IDH1 H3-3A
9 high grade glioma 31.6 TP53 IDH2 IDH1 H3-3A
10 brain cancer 31.5 TP53 MIR21 IDH2 IDH1 H3-3A
11 giant cell glioblastoma 31.5 TP53 LZTR1 IDH2 IDH1 H3-3A
12 brain glioma 31.4 TP53 IDH2 IDH1
13 malignant astrocytoma 31.4 TP53 IDH2 IDH1 H3-3A ERBB2
14 pleomorphic xanthoastrocytoma 31.3 TP53 IDH1 H3-3A
15 high-grade astrocytoma 31.2 TP53 IDH1
16 central nervous system cancer 31.2 TP53 MIR21 IDH2 IDH1 H3-3A
17 mixed glioma 31.1 TP53 IDH2 IDH1
18 li-fraumeni syndrome 31.1 TP53 IDH2 IDH1 ERBB2
19 diffuse midline glioma, h3 k27m-mutant 31.1 TP53 IDH1 H3C1 H3-3A
20 gemistocytic astrocytoma 31.0 TP53 IDH2 IDH1
21 brain stem glioma 30.8 TP53 IDH2 IDH1 H3-3A
22 spinal disease 30.8 TP53 MIR21 IDH2 IDH1 H3-3A
23 gliosarcoma 30.8 TP53 LZTR1 IDH2 IDH1 H3-3A ERBB2
24 high grade ependymoma 30.8 TP53 IDH1 H3-3A
25 esophagus adenocarcinoma 30.8 TP53 MIR21 ERBB2
26 low grade glioma 30.8 IDH2 IDH1 ERBB2
27 cholangiocarcinoma 30.7 TP53 MIR21 IDH2 IDH1 ERBB2
28 intrahepatic cholangiocarcinoma 30.7 TP53 IDH2 IDH1 ERBB2
29 spinal cord astrocytoma 30.7 IDH1 H3-3A
30 glioblastoma 30.7 TP53 MIR21 IDH2 IDH1 H3-3A ERBB2
31 glioma 30.7 TP53 MIR21 IDH2 IDH1 H3C1 H3-3A
32 atypical teratoid rhabdoid tumor 30.6 TP53 IDH1 H3-3A
33 juvenile pilocytic astrocytoma 30.6 IDH1 H3-3A
34 diffuse astrocytoma 30.6 TP53 IDH2 IDH1 H3-3A
35 myeloma, multiple 30.5 TP53 MIR21 IDH2 IDH1 H3C1 ERBB2
36 skin melanoma 30.5 TP53 MIR106A IDH1 ERBB2
37 adult astrocytic tumour 30.5 TP53 IDH2 IDH1 H3-3A
38 spinal cancer 30.5 LZTR1 IDH1 H3-3A
39 pilomyxoid astrocytoma 30.5 IDH1 H3C1 H3-3A
40 enchondroma 30.5 IDH2 IDH1
41 suppression of tumorigenicity 12 30.4 TP53 IDH1 ERBB2
42 chondroblastic osteosarcoma 30.3 IDH2 IDH1 H3-3A
43 goodpasture syndrome 11.6
44 adult spinal cord glioblastoma multiforme 11.4
45 optic pathway glioma 11.4
46 third ventricle chordoid glioma 11.3
47 chordoid glioma 11.2
48 brain oligodendroglioma 11.2
49 limbic encephalitis with lgi1 antibodies 11.2
50 anaplastic oligodendroglioma, idh-mutant and 1p/19q-codeleted 11.2

Graphical network of the top 20 diseases related to Glioma Susceptibility 1:



Diseases related to Glioma Susceptibility 1
Sources

Symptoms & Phenotypes for Glioma Susceptibility 1

About this section

Human phenotypes related to Glioma Susceptibility 1:

31
# Description HPO Frequency HPO Source Accession
1 astrocytoma 31 HP:0009592
2 ependymoma 31 HP:0002888
3 glioblastoma multiforme 31 HP:0012174

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neoplasia:
glioblastoma multiforme
astrocytomas
oligodendrogliomas
ependymomas
subependymomas

Clinical features from OMIM®:

137800 (Updated 05-Apr-2021)

UMLS symptoms related to Glioma Susceptibility 1:


seizures; headache
Sources

Drugs & Therapeutics for Glioma Susceptibility 1

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Drugs for Glioma Susceptibility 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 629)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
2
Phenytoin Approved, Vet_approved Phase 4 57-41-0 1775
3
Phenobarbital Approved, Investigational Phase 4 50-06-6 4763
4
Carbamazepine Approved, Investigational Phase 4 298-46-4 2554
5
Lactitol Approved, Investigational Phase 4 585-86-4 157355
6
Trametinib Approved Phase 4 871700-17-3 11707110
7
Dabrafenib Approved, Investigational Phase 4 1195765-45-7 44462760 44516822
8
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
9
Zonisamide Approved, Investigational Phase 4 68291-97-4 5734
10
Lamotrigine Approved, Investigational Phase 4 84057-84-1 3878
11
Topiramate Approved Phase 4 97240-79-4 5284627
12
Lacosamide Approved Phase 4 860352-01-8, 175481-36-4 219078
13
Clobazam Approved, Illicit Phase 4 22316-47-8 2789
14
Pregabalin Approved, Investigational Phase 4 148553-50-8 5486971
15
Rufinamide Approved Phase 4 106308-44-5 129228
16
tannic acid Approved Phase 4 1401-55-4
17
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
18 Calcium, Dietary Phase 4
19 Antipsychotic Agents Phase 4
20 calcium channel blockers Phase 4
21 Sodium Channel Blockers Phase 4
22 Diuretics, Potassium Sparing Phase 4
23 Hypnotics and Sedatives Phase 4
24 GABA Modulators Phase 4
25 Anti-Anxiety Agents Phase 4
26 GABA Agonists Phase 4
27
Calcium Nutraceutical Phase 4 7440-70-2 271
28
Dextroamphetamine Approved, Illicit Phase 3 51-64-9 5826
29
Ifosfamide Approved Phase 3 3778-73-2 3690
30
Tranexamic Acid Approved Phase 3 1197-18-8 5526
31
Citalopram Approved Phase 2, Phase 3 59729-33-8 2771
32
Meloxicam Approved, Vet_approved Phase 2, Phase 3 71125-38-7 5281106 54677470
33
Aminolevulinic acid Approved Phase 3 106-60-5 137
34
Trioxsalen Approved Phase 3 3902-71-4 5585
35
Dalteparin Approved Phase 3 9005-49-6
36
Heparin Approved, Investigational Phase 3 9005-49-6 772 9812414
37
Tinzaparin Approved Phase 3 9041-08-1, 9005-49-6 25244225
38
Thioguanine Approved Phase 3 154-42-7 2723601
39
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
40
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
41
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5
42
Fluorometholone Approved, Investigational Phase 3 426-13-1 9878
43
Naphazoline Approved, Investigational Phase 3 835-31-4 4436
44
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
45
Betamethasone Approved, Vet_approved Phase 3 378-44-9 9782
46
Prednisolone acetate Approved, Vet_approved Phase 3 52-21-1
47
Leflunomide Approved, Investigational Phase 3 75706-12-6 3899
48
Somatostatin Approved, Investigational Phase 2, Phase 3 38916-34-6, 51110-01-1 53481605
49
Modafinil Approved, Investigational Phase 3 68693-11-8 4236
50
Cobalt Approved, Experimental Phase 3 7440-48-4 104729

Interventional clinical trials:

(show top 50) (show all 2248)
# Name Status NCT ID Phase Drugs
1 A Clinical Study of Standard TEMODAL® Regimen Versus Standard Regimen Plus Early Post-Surgery TEMODAL® Chemotherapy in Treatment on Patients With Newly Diagnosed Glioblastoma Multiforme (GBM) Completed NCT00686725 Phase 4 Temozolomide
2 A Prospective, Single-Blinded, Randomized Study of Awake vs Intubated General Anesthesia in Patients Undergoing Elective Craniotomy for Supratentorial Glioma Resection Completed NCT02193568 Phase 4
3 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
4 Seizure Treatment IN Glioma (STING): Comparing a Treatment Strategy With Levetiracetam Versus Treatment With Valproic Acid in Glioma Patients With a First Seizure Recruiting NCT03048084 Phase 4 Levetiracetam;Valproic Acid
5 A Phase IV, Prospective, Open-Label, Parallel Study Evaluating the Effect of an Adjunctive Anti-Seizure Medication Using a Glutamatergic Modulator in Patients With Focal Epilepsy and High-Grade Glioma Recruiting NCT04650204 Phase 4 Phenobarbital, Phenytoin, Carbamazepine, Valproate, Gabapentin, Pregabalin, Lamotrigine, Topiramate, Leviteracetam, Lacosamide, Zonisamide, Clobazam, Oxcarbezepine, Rufinamide;Perampanel
6 Open Label, Multi-center Roll-over Study to Assess Long Term Safety in Patients Who Have Completed a Global Novartis or GSK Sponsored Dabrafenib and/or Trametinib Study Recruiting NCT03340506 Phase 4 dabrafenib;trametinib
7 A Study of CIK in Combination With Temozolomide With and Without Radiation in Adults With Advanced Malignant Gliomas Not yet recruiting NCT02496988 Phase 4 Temozolomide
8 A Prospective, Non-randomized, Concurrent Control, Open Label, Post-approval Study of NovoTTF-100A in Recurrent GBM Patient Terminated NCT01756729 Phase 4
9 A Phase III Clinical Trial Evaluating DCVax®-L, Autologous Dendritic Cells Pulsed With Tumor Lysate Antigen For The Treatment Of Glioblastoma Multiforme (GBM) Unknown status NCT00045968 Phase 3 Dendritic cell immunotherapy
10 PHASE I-II TRIAL OF METRONOMIC TEMOZOLAMIDE WITH INTERMITTENT INTENSIFICATION AND IRINOTECAN IN PATIENTS WITH RECURRENT GLIOBLASTOMA Unknown status NCT01308632 Phase 2, Phase 3 Temozolamide, irinotecan
11 Cognitive Rehabilitation of Glioma Patients: a Prospective, Randomized Study Unknown status NCT00256425 Phase 3
12 A Study Evaluating Dexamfetamine Sulphate in Patients With Glioma Suffering From Severe Asthenia. A Phase III Double-blind Randomized Placebo-controlled Trial Unknown status NCT02363075 Phase 3 Dexamfetamine sulphate;placebo
13 A Single-blind, Randomized, Clinical Trial Comparing the Efficacy of 6 Cycles Versus 12 Cycles Temozolomide Regimens in Adjuvant Treatment of Patients With Brain High Grade Glioma Unknown status NCT03633552 Phase 3 Temozolomide
14 Phase 3 Study of Carmustine Sustained Release Implant (CASANT) to Treat Newly Diagnosed Malignant Glioma Unknown status NCT01656980 Phase 3 Carmustine
15 A Phase III Trial on Adjuvant Standard Temozolomide Chemotherapy With or Without Interferon-alpha in Newly Diagnosed High-grade Gliomas Unknown status NCT01765088 Phase 3 Temozolomide;α-IFN
16 Treatment of Children and Adolescents With Diffuse Intrinsic Pontine Glioma and High Grade Glioma Unknown status NCT00278278 Phase 3 cisplatin;etoposide;ifosfamide;lomustine;methotrexate;prednisone;vincristine sulfate
17 PHASE 3 STUDY OF EFFICACY OF TRANEXAMIC ACID IN BRAIN TUMORS RESECTIONS Unknown status NCT01655927 Phase 3 Tranexamic Acid;Placebo: Saline
18 Barrow 5-ALA Intraoperative Confocal Evaluation Trial Unknown status NCT01502280 Phase 3 5-Aminolevulinic acid (ALA);Placebo - ascorbic acid
19 Prospective Randomized Trial of Two Hypofractionated Radiotherapy Regimens Versus Conventional Radiotherapy in Pediatric Diffuse Brainstem Glioma Unknown status NCT01878266 Phase 3
20 A Phase III Study Comparing Two Carboplatin Containing Regimens for Children and Young Adults With Previously Untreated Low Grade Glioma Unknown status NCT02455245 Phase 3 Carboplatin;Vincristine
21 Impact of Surgery on the Treatment of Supratentorial Malignant Gliomas in Subjects Aged 70 and Over Unknown status NCT02892708 Phase 3
22 Ultimate Low Grade Glioma Study Unknown status NCT00003015 Phase 3 carboplatin;vincristine sulfate
23 Efficacy of Stereotactic Conformal Radiotherapy (SCRT) Compared to Conventional Radiotherapy in Minimising Late Sequelae in Children and Young Adults With Brain Tumours: a Randomised Clinical Trial Unknown status NCT00517959 Phase 3
24 Randomized, Prospective, Multicenter Blinding Singles With Arm A and Arm B Innovative Strategy Strategy Conventional Unknown status NCT01811121 Phase 3 5-aminolévulinique acid (5-ALA);Placebo
25 Proteome-based Personalized Immunotherapy of Malignant Brain Tumors Unknown status NCT01759810 Phase 2, Phase 3
26 The Effect of Escitalopram on Mood, Quality of Life and Cognitive Functioning in Glioblastoma Patients Unknown status NCT02623231 Phase 2, Phase 3 Escitalopram;placebo
27 Phase III Study of Imatinib Mesylate in Combination With Hydroxyurea Versus Hydroxyurea Alone as an Oral Therapy in Patients With Temozolomide Resistant Progressive Glioblastoma Completed NCT00154375 Phase 3 Imatinib mesylate;Hydroxyurea
28 An Open-Labeled, Extended-Use of Human Corticotropin-Releasing Factor (hCRF) Intended for Patients Who Participate in Dexamethasone-Sparing Studies NTI 0302, NTI 0303, or Other Designated Studies Completed NCT00226655 Phase 3 hCRF [XERECEPT (corticorelin acetate injection)]
29 A Phase III Randomized, Double-Blind, Dexamethasone-Sparing Study Comparing Human Corticotropin-Releasing Factor (hCRF) to Placebo for Control of Symptoms Associated With Peritumoral Brain Edema in Patients With Malignant Brain Tumor Who Require Chronic Administration of High-Dose Dexamethasone Completed NCT00088166 Phase 3 hCRF;placebo hCRF
30 PRECISE - Phase III Randomized Evaluation of Convection Enhanced Delivery of IL13-PE38QQR Compared to GLIADEL® Wafer With Survival Endpoint in Glioblastoma Multiforme Patients at First Recurrence Completed NCT00076986 Phase 3 IL13-PE38QQR;prolifespan 20 with carmustine implant (GLIADEL® Wafer)
31 A Trial of Dalteparin Low Molecular Weight Heparin for Primary Prophylaxis of Venous Thromboembolism in Brain Tumour Patients (PRODIGE) Completed NCT00135876 Phase 3 dalteparin
32 NOA-04 Randomized Phase III Study of Sequential Radiochemotherapy of Anaplastic Glioma With PCV or Temozolomide Completed NCT00717210 Phase 3 Temozolomide
33 A Randomized Phase III Study of Short Course (One-week) Radiation Therapy Versus Standard Course (Three-week) Radiation Therapy in Elderly and/or Frail Patients With Newly Diagnosed Glioblastoma Multiforme Completed NCT01450449 Phase 3
34 Chloroquine as Adjuvant to the Treatment of Glioblastoma Multiforme, A Randomized Trial Completed NCT00224978 Phase 3 Chloroquine
35 A Prospective, Multi-center Trial of NovoTTF-100A Compared to Best Standard of Care in Patients With Progressive or Recurrent GBM Completed NCT00379470 Phase 3
36 Phase 3b Study for Management of Ocular Side Effects in Subjects With EGFR-amplified Glioblastoma Receiving Depatuxizumab Mafodotin (ABT-414) Completed NCT03419403 Phase 3 Steroid eye drop;Ophthalmic steroid ointment;Temozolomide;depatuxizumab mafodotin;Vasoconstrictor eye drop
37 Phase III Trial Exploring the Combination of Bevacizumab and Lomustine in Patients With First Recurrence of a Glioblastoma Completed NCT01290939 Phase 3 lomustine
38 A Prospective, Multi-center Trial of NovoTTF-100A Together With Temozolomide Compared to Temozolomide Alone in Patients With Newly Diagnosed GBM. Completed NCT00916409 Phase 3 Temozolomide
39 A Phase III, Randomized, Open-Label Study Of IV Edotecarin Vs Temozolomide Or Carmustine (BCNU) Or Lomustine (CCNU) In Patients With Glioblastoma Multiforme At First Relapse After Alkylator-Based (NEO) Adjuvant Chemotherapy Completed NCT00068952 Phase 3 Edotecarin;Temozolomide;Carmustine (BCNU);Lomustine (CCNU)
40 A Phase III Multicenter Study of Intratumoral/Interstitial Therapy With TransMID Compared to Best Standard of Care in Patients With Progressive and/or Recurrent, Non-Resectable Glioblastoma Multiforme Completed NCT00088400 Phase 3 TransMID
41 Phase-III Study of Standard Radiotherapy Plus Concomitant and Adjuvant OSAG 101 (Theraloc®) Plus Temozolomide vs. Standard Radiotherapy Plus Concomitant and Adjuvant Temozolomide in Patient With Newly Diagnosed, Histologically Confirmed Glioblastoma Multiforme Grade IV Completed NCT00753246 Phase 3 nimotuzumab
42 A PHASE III TRIAL COMPARING THE USE OF RADIOSURGERY FOLLOWED BY CONVENTIONAL RADIOTHERAPY WITH BCNU TO CONVENTIONAL RADIOTHERAPY WITH BCNU FOR SUPRATENTORIAL GLIOBLASTOMA MULTIFORME Completed NCT00002545 Phase 3 carmustine
43 A Phase III Study of Radiation Therapy (RT) and O6-Benzylguanine (O6-BG) Plus BCNU Versus RT and BCNU Alone for Newly Diagnosed Glioblastoma Multiforme (GBM) and Gliosarcoma Completed NCT00017147 Phase 3 carmustine;O6-Benzylguanine
44 Concomitant and Adjuvant Temozolomide and Radiotherapy for Newly Diagnosed Glioblastoma Multiforme - A Randomized Phase III Study Completed NCT00006353 Phase 3 temozolomide
45 A Phase III Randomized Study of SU101 Versus Procarbazine for Patients With Glioblastoma Multiforme in First Relapse Completed NCT00003293 Phase 3 leflunomide;procarbazine hydrochloride
46 A Randomized Phase III Study of Temozolomide and Short-Course Radiation Versus Short-Course Radiation Alone In The Treatment of Newly Diagnosed Glioblastoma Multiforme in Elderly Patients Completed NCT00482677 Phase 3 temozolomide
47 A Phase III Comparison of Hyperfractionated Radiation Therapy (RT) With BCNU and Conventional RT With BCNU for Supratentorial Malignant Glioma Completed NCT03722355 Phase 3 Carmustine
48 A Multicenter, Open-Label, Randomized, Active-Controlled Parallel Groups Study Comparing the Efficacy and Safety of Temodal vs Semustine in the Treatment of Subjects With Recurrent Glioblastoma or Anaplastic Astrocytoma Completed NCT00335075 Phase 3 Temozolomide;Semustine
49 Radiotherapy for Malignant Astrocytomas in the Elderly Completed NCT00430911 Phase 3 Radiotherapy
50 Temozolomid (One Week on/One Week Off) Versus Strahlentherapie in Der Primärtherapie Anaplastischer Astrozytome Und Glioblastome Bei älteren Patienten: Eine Randomisierte Phase III-Studie (Methvsalem) Completed NCT01502241 Phase 3 Temozolomide

Search NIH Clinical Center for Glioma Susceptibility 1

Inferred drug relations via UMLS 70 / NDF-RT 51 :


Carmustine
Cisplatin
CISPLATIN PWDR
temozolomide
Sources

Genetic Tests for Glioma Susceptibility 1

About this section

Genetic tests related to Glioma Susceptibility 1:

# Genetic test Affiliating Genes
1 Glioma Susceptibility 1 29 ERBB2 IDH1 TP53
2 Astrocytoma 29
3 Glioma, Susceptibility to, Somatic 29
Sources

Anatomical Context for Glioma Susceptibility 1

About this section

MalaCards organs/tissues related to Glioma Susceptibility 1:

40
Brain, Spinal Cord, T Cells, Endothelial, Bone, Cerebellum, Pineal
Sources

Publications for Glioma Susceptibility 1

About this section

Articles related to Glioma Susceptibility 1:

(show top 50) (show all 12061)
# Title Authors PMID Year
1
Germline p53 gene mutations in subsets of glioma patients. 57 6
8308926 1994
2
Nf1;Trp53 mutant mice develop glioblastoma with evidence of strain-specific effects. 57 54 61
10973261 2000
3
p53 mutation, EGFR gene amplification and loss of heterozygosity on chromosome 10, 17 p in human gliomas. 61 54 57
11776043 2000
4
Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma. 61 57
23817572 2013
5
Alterations of BRAF and HIPK2 loci predominate in sporadic pilocytic astrocytoma. 57 61
19794125 2009
6
IDH1 mutations in low-grade astrocytomas predict survival but not response to temozolomide. 57 61
19933982 2009
7
IDH1 and IDH2 mutations in gliomas. 57 54
19228619 2009
8
Familiality in brain tumors. 61 57
18809838 2008
9
Susceptibility to astrocytoma in mice mutant for Nf1 and Trp53 is linked to chromosome 11 and subject to epigenetic effects. 61 57
15319471 2004
10
High-resolution genome-wide allelotype analysis identifies loss of chromosome 14q as a recurrent genetic alteration in astrocytic tumours. 57 61
12107846 2002
11
Mouse glioma gene expression profiling identifies novel human glioma-associated genes. 61 57
11891838 2002
12
Investigation of germline PTEN, p53, p16(INK4A)/p14(ARF), and CDK4 alterations in familial glioma. 61 57
10797439 2000
13
Loss of heterozygosity of a locus on 17p13.3, independent of p53, is associated with higher grades of astrocytic tumours. 61 57
9266974 1997
14
Chromosome abnormalities in low-grade central nervous system tumors. 57 61
1591709 1992
15
Polysomy of chromosome 7 is correlated with overexpression of the erbB oncogene in human glioblastoma cell lines. 57 61
3759084 1986
16
Familial brain tumors: rhombencephalon-astrocytoma grade I in father and son. 57 61
7435166 1980
17
Astrocytoma in three sisters. 57 61
562999 1977
18
Control of glioblastoma tumorigenesis by feed-forward cytokine signaling. 57
27110918 2016
19
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 6
26619011 2016
20
Insulator dysfunction and oncogene activation in IDH mutant gliomas. 57
26700815 2016
21
Comprehensive, Integrative Genomic Analysis of Diffuse Lower-Grade Gliomas. 57
26061751 2015
22
Glioma Groups Based on 1p/19q, IDH, and TERT Promoter Mutations in Tumors. 57
26061753 2015
23
SHMT2 drives glioma cell survival in ischaemia but imposes a dependence on glycine clearance. 57
25855294 2015
24
Use of human embryonic stem cells to model pediatric gliomas with H3.3K27M histone mutation. 57
25525250 2014
25
Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 6
25157968 2014
26
C11orf95-RELA fusions drive oncogenic NF-κB signalling in ependymoma. 57
24553141 2014
27
Epigenomic alterations define lethal CIMP-positive ependymomas of infancy. 57
24553142 2014
28
The integrated landscape of driver genomic alterations in glioblastoma. 57
23917401 2013
29
Inhibition of PRC2 activity by a gain-of-function H3 mutation found in pediatric glioblastoma. 57
23539183 2013
30
Transforming fusions of FGFR and TACC genes in human glioblastoma. 57
22837387 2012
31
Passenger deletions generate therapeutic vulnerabilities in cancer. 57
22895339 2012
32
Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma. 57
22286061 2012
33
Somatic histone H3 alterations in pediatric diffuse intrinsic pontine gliomas and non-brainstem glioblastomas. 57
22286216 2012
34
Mutations in CIC and FUBP1 contribute to human oligodendroglioma. 57
21817013 2011
35
IDH1 R132H decreases proliferation of glioma cell lines in vitro and in vivo. 57
21446021 2011
36
Establishment of a novel monoclonal antibody SMab-1 specific for IDH1-R132S mutation. 6
21352804 2011
37
NFKBIA deletion in glioblastomas. 57
21175304 2011
38
Glioblastoma stem-like cells give rise to tumour endothelium. 57
21102433 2010
39
Tumour vascularization via endothelial differentiation of glioblastoma stem-like cells. 57
21102434 2010
40
Cross-species genomics matches driver mutations and cell compartments to model ependymoma. 57
20639864 2010
41
A genome-wide RNA interference screen reveals an essential CREB3L2-ATF5-MCL1 survival pathway in malignant glioma with therapeutic implications. 57
20495567 2010
42
All the 1p19q codeleted gliomas are mutated on IDH1 or IDH2. 57
20427748 2010
43
The use of hsa-miR-21, hsa-miR-181b and hsa-miR-106a as prognostic indicators of astrocytoma. 61 47
20219352 2010
44
Inherited predisposition to glioma. 57
20150373 2010
45
The transcriptional network for mesenchymal transformation of brain tumours. 57
20032975 2010
46
A monoclonal antibody IMab-1 specifically recognizes IDH1R132H, the most common glioma-derived mutation. 6
19818334 2009
47
Monoclonal antibody specific for IDH1 R132H mutation. 6
19798509 2009
48
IDH1 and IDH2 mutations in gliomas. 57
19458374 2009
49
TP53 codon 72 polymorphism is associated with age at onset of glioblastoma. 57
19171829 2009
50
p53 and Pten control neural and glioma stem/progenitor cell renewal and differentiation. 57
18948956 2008
Sources

Variations for Glioma Susceptibility 1

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ClinVar genetic disease variations for Glioma Susceptibility 1:

6 (show all 36)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ERBB2 NM_004448.3(ERBB2):c.2740G>A (p.Glu914Lys) SNV Pathogenic 13878 rs28933368 GRCh37: 17:37881974-37881974
GRCh38: 17:39725721-39725721
2 TP53 NM_000546.5(TP53):c.96+1G>T SNV Pathogenic 482212 rs1131691003 GRCh37: 17:7579699-7579699
GRCh38: 17:7676381-7676381
3 TP53 NM_000546.6(TP53):c.524G>A (p.Arg175His) SNV Pathogenic 12374 rs28934578 GRCh37: 17:7578406-7578406
GRCh38: 17:7675088-7675088
4 TP53 NM_000546.5(TP53):c.559+1G>A SNV Pathogenic 428908 rs1131691042 GRCh37: 17:7578370-7578370
GRCh38: 17:7675052-7675052
5 TP53 NM_000546.6(TP53):c.818G>A (p.Arg273His) SNV Pathogenic 12366 rs28934576 GRCh37: 17:7577120-7577120
GRCh38: 17:7673802-7673802
6 TP53 NM_000546.6(TP53):c.743G>A (p.Arg248Gln) SNV Pathogenic 12356 rs11540652 GRCh37: 17:7577538-7577538
GRCh38: 17:7674220-7674220
7 PTPN11 NM_002834.5(PTPN11):c.227A>G (p.Glu76Gly) SNV Likely pathogenic 13338 rs121918465 GRCh37: 12:112888211-112888211
GRCh38: 12:112450407-112450407
8 IDH1 NM_001282386.1(IDH1):c.394C>T (p.Arg132Cys) SNV Likely pathogenic 375891 rs121913499 GRCh37: 2:209113113-209113113
GRCh38: 2:208248389-208248389
9 PTPN11 NM_002834.4(PTPN11):c.227A>C (p.Glu76Ala) SNV Likely pathogenic 13339 rs121918465 GRCh37: 12:112888211-112888211
GRCh38: 12:112450407-112450407
10 IDH1 NM_001282386.1(IDH1):c.394C>A (p.Arg132Ser) SNV Likely pathogenic 375893 rs121913499 GRCh37: 2:209113113-209113113
GRCh38: 2:208248389-208248389
11 H3-3A NM_002107.6(H3-3A):c.83A>T (p.Lys28Met) SNV Likely pathogenic 376435 rs1057519903 GRCh37: 1:226252135-226252135
GRCh38: 1:226064434-226064434
12 IDH1 NM_001282386.1(IDH1):c.395G>A (p.Arg132His) SNV Likely pathogenic 156444 rs121913500 GRCh37: 2:209113112-209113112
GRCh38: 2:208248388-208248388
13 CIC NM_015125.4(CIC):c.290_291insT (p.Gly99fs) Insertion Likely pathogenic 635171 rs1568503055 GRCh37: 19:42791230-42791231
GRCh38: 19:42287078-42287079
14 FGFR1 NM_023110.2(FGFR1):c.1966A>G (p.Lys656Glu) SNV Likely pathogenic 224897 rs869320694 GRCh37: 8:38272308-38272308
GRCh38: 8:38414790-38414790
15 FGFR1 NM_015850.4(FGFR1):c.1962G>C (p.Lys654Asn) SNV Likely pathogenic 376428 rs1057519897 GRCh37: 8:38272306-38272306
GRCh38: 8:38414788-38414788
16 TP53 NM_000546.5(TP53):c.799C>T (p.Arg267Trp) SNV Likely pathogenic 141764 rs55832599 GRCh37: 17:7577139-7577139
GRCh38: 17:7673821-7673821
17 SLX4 NM_032444.4(SLX4):c.859_860del (p.Ser287fs) Deletion Likely pathogenic 620592 rs1567176006 GRCh37: 16:3652209-3652210
GRCh38: 16:3602208-3602209
18 TP53 NM_000546.5(TP53):c.542G>T (p.Arg181Leu) SNV risk factor 39420 rs397514495 GRCh37: 17:7578388-7578388
GRCh38: 17:7675070-7675070
19 FGFR1 NM_015850.4(FGFR1):c.1630A>G (p.Asn544Asp) SNV Likely pathogenic 376429 rs1057519898 GRCh37: 8:38274851-38274851
GRCh38: 8:38417333-38417333
20 FGFR1 NM_015850.4(FGFR1):c.1537A>G (p.Met513Val) SNV Likely pathogenic 376430 rs1057519899 GRCh37: 8:38275397-38275397
GRCh38: 8:38417879-38417879
21 FGFR1 NM_023110.2(FGFR1):c.1638C>A (p.Asn546Lys) SNV Likely pathogenic 224896 rs779707422 GRCh37: 8:38274849-38274849
GRCh38: 8:38417331-38417331
22 PTPN11 NM_002834.4(PTPN11):c.226G>A (p.Glu76Lys) SNV Likely pathogenic 13336 rs121918464 GRCh37: 12:112888210-112888210
GRCh38: 12:112450406-112450406
23 ARID1A NM_006015.6(ARID1A):c.48_50GCC[6] (p.Pro21dup) Microsatellite Uncertain significance 434329 rs748085214 GRCh37: 1:27022939-27022940
GRCh38: 1:26696448-26696449
24 ARID1B NM_020732.3(ARID1B):c.751T>G (p.Cys251Gly) SNV Uncertain significance 496813 rs1276300860 GRCh37: 6:157099814-157099814
GRCh38: 6:156778680-156778680
25 EPHA5 NM_004439.8(EPHA5):c.1043A>G (p.Asp348Gly) SNV Uncertain significance 503605 rs200932017 GRCh37: 4:66361129-66361129
GRCh38: 4:65495411-65495411
26 KMT2D NM_003482.3(KMT2D):c.15876G>C (p.Glu5292Asp) SNV Uncertain significance 503606 rs1365163460 GRCh37: 12:49418638-49418638
GRCh38: 12:49024855-49024855
27 TSC1 NM_000368.4(TSC1):c.359T>C (p.Leu120Pro) SNV Uncertain significance 523362 rs1554820262 GRCh37: 9:135800978-135800978
GRCh38: 9:132925591-132925591
28 TP53 NM_000546.5(TP53):c.760A>G (p.Ile254Val) SNV Uncertain significance 406605 rs746601313 GRCh37: 17:7577521-7577521
GRCh38: 17:7674203-7674203
29 TP53 NM_000546.6(TP53):c.847C>T (p.Arg283Cys) SNV Uncertain significance 127824 rs149633775 GRCh37: 17:7577091-7577091
GRCh38: 17:7673773-7673773
30 CHEK2 NM_007194.4(CHEK2):c.1100del (p.Thr367fs) Deletion Uncertain significance 128042 rs555607708 GRCh37: 22:29091857-29091857
GRCh38: 22:28695869-28695869
31 ATRX NM_000489.5(ATRX):c.4213A>G (p.Arg1405Gly) SNV Uncertain significance 635172 rs1569535987 GRCh37: X:76912051-76912051
GRCh38: X:77656561-77656561
32 TP53 NM_000546.5(TP53):c.848G>A (p.Arg283His) SNV Uncertain significance 142324 rs371409680 GRCh37: 17:7577090-7577090
GRCh38: 17:7673772-7673772
33 TP53 NM_000546.5(TP53):c.466C>T (p.Arg156Cys) SNV Uncertain significance 127810 rs563378859 GRCh37: 17:7578464-7578464
GRCh38: 17:7675146-7675146
34 TP53 NM_000546.5(TP53):c.461G>A (p.Gly154Asp) SNV Uncertain significance 237950 rs762846821 GRCh37: 17:7578469-7578469
GRCh38: 17:7675151-7675151
35 PPARG NM_015869.4(PPARG):c.1431C>T (p.His477=) SNV Benign 8139 rs3856806 GRCh37: 3:12475557-12475557
GRCh38: 3:12434058-12434058
36 IDH1 NM_001282386.1(IDH1):c.395G>A (p.Arg132His) SNV not provided 156444 rs121913500 GRCh37: 2:209113112-209113112
GRCh38: 2:208248388-208248388

UniProtKB/Swiss-Prot genetic disease variations for Glioma Susceptibility 1:

72 (show all 14)
# Symbol AA change Variation ID SNP ID
1 H3-3A p.Lys28Met VAR_079021 rs105751990
2 H3-3A p.Gly35Arg VAR_079022 rs155326062
3 H3-3A p.Gly35Val VAR_079023
4 H3C1 p.Lys28Met VAR_079018 rs105751990
5 IDH2 p.Pro158Leu VAR_073181
6 IDH2 p.Pro162Ser VAR_073182
7 IDH2 p.Arg172Gly VAR_073183 rs105751990
8 IDH2 p.Arg172Lys VAR_073184 rs121913503
9 IDH2 p.Arg172Met VAR_073185 rs121913503
10 LZTR1 p.Gly248Arg VAR_075659 rs869320686
11 LZTR1 p.Trp105Arg VAR_081294
12 LZTR1 p.Arg198Gly VAR_081301
13 LZTR1 p.Thr288Ile VAR_081309
14 LZTR1 p.Arg810Trp VAR_081331 rs776893978

Cosmic variations for Glioma Susceptibility 1:

9 (show top 50) (show all 20707)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)		 Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM85192834 ZW10 central nervous system,brain,glioma,astrocytoma Grade IV c.2140C>T p.P714S 11:113736699-113736699 8
2 COSM86922763 ZSWIM4 central nervous system,brain,glioma,astrocytoma Grade IV c.266C>T p.P89L 19:13799832-13799832 8
3 COSM88263742 ZRSR2 central nervous system,brain,glioma,astrocytoma Grade IV c.340C>T p.Q114* 23:15804138-15804138 8
4 COSM88261602 ZRSR2 central nervous system,brain,glioma,astrocytoma Grade IV c.961C>T p.P321S 23:15822754-15822754 8
5 COSM88263021 ZRSR2 central nervous system,brain,glioma,astrocytoma Grade IV c.260G>A p.R87K 23:15803744-15803744 8
6 COSM88261596 ZRSR2 central nervous system,brain,glioma,astrocytoma Grade IV c.271G>A p.E91K 23:15803755-15803755 8
7 COSM88262556 ZRSR2 central nervous system,brain,glioma,oligodendroglioma c.220G>A p.E74K 23:15803704-15803704 8
8 COSM87830624 ZPLD1 central nervous system,brain,glioma,astrocytoma Grade IV c.393A>T p.G131= 3:102456210-102456210 8
9 COSM119316158 ZPLD1 central nervous system,brain,glioma,astrocytoma Grade IV c.345A>T p.G115= 3:102456210-102456210 8
10 COSM116178212 ZPLD1 central nervous system,brain,glioma,astrocytoma Grade IV c.345A>T p.G115= 3:102456210-102456210 8
11 COSM106156998 ZNF697 central nervous system,brain,glioma,astrocytoma Grade IV c.1550G>A p.G517D 1:119622793-119622793 8
12 COSM93171584 ZNF687 central nervous system,brain,glioma,astrocytoma Grade IV c.3651C>T p.T1217= 1:151291146-151291146 8
13 COSM93173649 ZNF687 central nervous system,brain,glioma,astrocytoma Grade IV c.2044T>A p.C682S 1:151288335-151288335 8
14 COSM93173639 ZNF687 central nervous system,brain,glioma,astrocytoma Grade IV c.2043G>C p.Q681H 1:151288334-151288334 8
15 COSM92762364 ZNF507 central nervous system,brain,glioma,astrocytoma Grade IV c.1517G>C p.R506T 19:32354347-32354347 8
16 COSM91851905 ZNF507 central nervous system,brain,glioma,astrocytoma Grade IV c.1517G>C p.R506T 19:32354347-32354347 8
17 COSM130988554 ZNF507 central nervous system,brain,glioma,astrocytoma Grade IV c.1517G>C p.R506T 19:32354347-32354347 8
18 COSM141250987 ZNF473 central nervous system,brain,glioma,astrocytoma Grade IV c.42C>T p.D14= 19:50039193-50039193 8
19 COSM84172269 ZNF473 central nervous system,brain,glioma,astrocytoma Grade IV c.42C>T p.D14= 19:50039193-50039193 8
20 COSM141790125 ZNF473 central nervous system,brain,glioma,astrocytoma Grade IV c.42C>T p.D14= 19:50039193-50039193 8
21 COSM99924035 ZNF473 central nervous system,brain,glioma,astrocytoma Grade IV c.42C>T p.D14= 19:50039193-50039193 8
22 COSM111538647 ZNF473 central nervous system,brain,glioma,astrocytoma Grade IV c.6C>T p.D2= 19:50039193-50039193 8
23 COSM84507966 ZNF276 central nervous system,brain,glioma,astrocytoma Grade IV c.*664G>A p.? 16:89738910-89738910 8
24 COSM102909520 ZMYND8 central nervous system,brain,glioma,astrocytoma Grade IV c.2116G>A p.D706N 20:47246116-47246116 8
25 COSM116582422 ZMYND8 central nervous system,brain,glioma,astrocytoma Grade IV c.2176G>A p.D726N 20:47246116-47246116 8
26 COSM92864918 ZMYND8 central nervous system,brain,glioma,astrocytoma Grade IV c.2102T>G p.V701G 20:47246130-47246130 8
27 COSM111370233 ZMYND8 central nervous system,brain,glioma,astrocytoma Grade IV c.2116G>A p.D706N 20:47246116-47246116 8
28 COSM91410147 ZMYND8 central nervous system,brain,glioma,astrocytoma Grade IV c.2116G>A p.D706N 20:47246116-47246116 8
29 COSM97055096 ZMYND8 central nervous system,brain,glioma,astrocytoma Grade IV c.1913T>G p.V638G 20:47246130-47246130 8
30 COSM112970642 ZMYND8 central nervous system,brain,glioma,astrocytoma Grade IV c.2176G>A p.D726N 20:47246116-47246116 8
31 COSM92871777 ZMYND8 central nervous system,brain,glioma,astrocytoma Grade IV c.2116G>A p.D706N 20:47246116-47246116 8
32 COSM85475347 ZMYND8 central nervous system,brain,glioma,astrocytoma Grade IV c.2102T>G p.V701G 20:47246130-47246130 8
33 COSM143801239 ZMYND8 central nervous system,brain,glioma,astrocytoma Grade IV c.2041G>A p.D681N 20:47246116-47246116 8
34 COSM114834078 ZMYND8 central nervous system,brain,glioma,astrocytoma Grade IV c.2087T>G p.V696G 20:47246130-47246130 8
35 COSM114839982 ZMYND8 central nervous system,brain,glioma,astrocytoma Grade IV c.2101G>A p.D701N 20:47246116-47246116 8
36 COSM91535436 ZMYND8 central nervous system,brain,glioma,astrocytoma Grade IV c.2176G>A p.D726N 20:47246116-47246116 8
37 COSM91528627 ZMYND8 central nervous system,brain,glioma,astrocytoma Grade IV c.2162T>G p.V721G 20:47246130-47246130 8
38 COSM133275210 ZMYND8 central nervous system,brain,glioma,astrocytoma Grade IV c.1960G>A p.D654N 20:47246116-47246116 8
39 COSM143618110 ZMYND8 central nervous system,brain,glioma,astrocytoma Grade IV c.2116G>A p.D706N 20:47246116-47246116 8
40 COSM111362863 ZMYND8 central nervous system,brain,glioma,astrocytoma Grade IV c.2102T>G p.V701G 20:47246130-47246130 8
41 COSM91401933 ZMYND8 central nervous system,brain,glioma,astrocytoma Grade IV c.2102T>G p.V701G 20:47246130-47246130 8
42 COSM130874736 ZMYND8 central nervous system,brain,glioma,astrocytoma Grade IV c.2197G>A p.D733N 20:47246116-47246116 8
43 COSM116576154 ZMYND8 central nervous system,brain,glioma,astrocytoma Grade IV c.2162T>G p.V721G 20:47246130-47246130 8
44 COSM143862983 ZMYND8 central nervous system,brain,glioma,astrocytoma Grade IV c.2101G>A p.D701N 20:47246116-47246116 8
45 COSM143796197 ZMYND8 central nervous system,brain,glioma,astrocytoma Grade IV c.2027T>G p.V676G 20:47246130-47246130 8
46 COSM102902986 ZMYND8 central nervous system,brain,glioma,astrocytoma Grade IV c.2102T>G p.V701G 20:47246130-47246130 8
47 COSM133265728 ZMYND8 central nervous system,brain,glioma,astrocytoma Grade IV c.1946T>G p.V649G 20:47246130-47246130 8
48 COSM85483642 ZMYND8 central nervous system,brain,glioma,astrocytoma Grade IV c.2116G>A p.D706N 20:47246116-47246116 8
49 COSM112964306 ZMYND8 central nervous system,brain,glioma,astrocytoma Grade IV c.2162T>G p.V721G 20:47246130-47246130 8
50 COSM143856741 ZMYND8 central nervous system,brain,glioma,astrocytoma Grade IV c.2087T>G p.V696G 20:47246130-47246130 8

Copy number variations for Glioma Susceptibility 1 from CNVD:

7 (show top 50) (show all 436)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 13337 1 1 124300000 Loss Astrocytoma
2 13347 1 1 125000000 Deletion Astrocytoma
3 13376 1 1 2300000 Amplification AURKAIP1 Astrocytoma
4 13377 1 1 2300000 Amplification C1orf159 Astrocytoma
5 13378 1 1 2300000 Amplification CDK11B Astrocytoma
6 13379 1 1 2300000 Amplification CDK11A Astrocytoma
7 13380 1 1 2300000 Amplification INTS11 Astrocytoma
8 13381 1 1 2300000 Amplification GNB1 Astrocytoma
9 13382 1 1 2300000 Amplification HES4 Astrocytoma
10 13383 1 1 2300000 Amplification ISG15 Astrocytoma
11 13386 1 1 2300000 Amplification MIB2 Astrocytoma
12 13387 1 1 2300000 Amplification MMP23A Astrocytoma
13 13388 1 1 2300000 Amplification NOC2L Astrocytoma
14 13389 1 1 2300000 Amplification PRKCZ Astrocytoma
15 13390 1 1 2300000 Amplification SDF4 Astrocytoma
16 13391 1 1 2300000 Amplification SLC35E2A Astrocytoma
17 13757 1 1 28000000 Deletion Astrocytoma
18 13760 1 1 28000000 Deletion Astrocytoma
19 16428 1 124300000 247249719 Gain Astrocytoma
20 16544 1 12700000 16200000 Deletion Astrocytoma
21 30468 1 243700000 249250621 Deletion AKT3 Astrocytoma
22 30469 1 243700000 249250621 Deletion SDCCAG8 Astrocytoma
23 30470 1 243700000 249250621 Deletion ZBTB18 Astrocytoma
24 31970 1 32400000 34600000 Deletion Astrocytoma
25 32218 1 34600000 44100000 Deletion Astrocytoma
26 35014 1 59000000 68900000 Deletion Astrocytoma
27 36950 1 8384389 8404226 Deletion SLC45A1 Astrocytoma
28 46536 10 82000000 135374737 Loss Astrocytoma
29 48496 11 1 52900000 Loss Astrocytoma
30 67045 12 35400000 132349534 Loss Astrocytoma
31 67785 12 44600000 69800000 Gain Astrocytoma
32 75152 13 16000000 114142980 Loss Astrocytoma
33 89238 15 17000000 100338915 Gain Astrocytoma
34 97277 16 1 38200000 Loss Astrocytoma
35 97302 16 1 6300000 Amplification ABCA3 Astrocytoma
36 97303 16 1 6300000 Amplification AXIN1 Astrocytoma
37 97304 16 1 6300000 Amplification C1QTNF8 Astrocytoma
38 97305 16 1 6300000 Amplification CACNA1H Astrocytoma
39 97306 16 1 6300000 Amplification CREBBP Astrocytoma
40 97307 16 1 6300000 Amplification DNAJA3 Astrocytoma
41 97308 16 1 6300000 Amplification HMOX2 Astrocytoma
42 97309 16 1 6300000 Amplification IGFALS Astrocytoma
43 97310 16 1 6300000 Amplification PAM16 Astrocytoma
44 97311 16 1 6300000 Amplification MAPK8IP3 Astrocytoma
45 97312 16 1 6300000 Amplification MMP25 Astrocytoma
46 97313 16 1 6300000 Amplification MPG Astrocytoma
47 97314 16 1 6300000 Amplification MRPL28 Astrocytoma
48 97315 16 1 6300000 Amplification MSLN Astrocytoma
49 97316 16 1 6300000 Amplification NME4 Astrocytoma
50 97317 16 1 6300000 Amplification NTHL1 Astrocytoma
Sources

Expression for Glioma Susceptibility 1

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Search GEO for disease gene expression data for Glioma Susceptibility 1.
Sources

Pathways for Glioma Susceptibility 1

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Pathways related to Glioma Susceptibility 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Central carbon metabolism in cancer 36
10.77 TP53 IDH2 IDH1 ERBB2
2
Cytosine methylation 1
Show member pathways
 10.07 IDH2 IDH1
Sources

GO Terms for Glioma Susceptibility 1

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Biological processes related to Glioma Susceptibility 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 2-oxoglutarate metabolic process GO:0006103 9.26 IDH2 IDH1
2 NADP metabolic process GO:0006739 9.16 IDH2 IDH1
3 isocitrate metabolic process GO:0006102 8.96 IDH2 IDH1
4 glyoxylate cycle GO:0006097 8.62 IDH2 IDH1

Molecular functions related to Glioma Susceptibility 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 isocitrate dehydrogenase (NADP+) activity GO:0004450 8.96 IDH2 IDH1
2 isocitrate dehydrogenase activity GO:0004448 8.62 IDH2 IDH1
Sources

Sources for Glioma Susceptibility 1

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 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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