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GLM1
MCID: GLM040
MIFTS: 71

Glioma Susceptibility 1 (GLM1)

Categories: Cancer diseases, Genetic diseases, Neuronal diseases, Rare diseases
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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 28 5
Astrocytoma 58 75 73 28 53 5 16 71
Glioma, Susceptibility to, Somatic 57 28
Glioblastoma Multiforme 73 71
Glioblastoma, Somatic 57 12
Oligodendroglioma 73 71
Glioma 73 71
Glm1 57 73
Well Differentiated Oligodendroglioma 71
Glioma, Susceptibility, Type 1 38
Familial Glioma of Brain 73
Cerebral Astrocytoma 71
Astrocytic Tumor 58
Glioma Somatic 57
Glioblastoma 71
Glioma 1 73
Gbm 73
Glm 73

Characteristics:


Inheritance:

Autosomal dominant 57

Prevelance:

Astrocytoma: 1-9/100000 58

Age Of Onset:

Astrocytoma: All ages 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
gliomas may occur in association with other hereditary tumor syndromes (see )


Classifications:

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


External Ids:

OMIM® 57 137800
OMIM Phenotypic Series 57 PS137800
MeSH 43 D005910
MESH via Orphanet 44 D001254
UMLS via Orphanet 72 C0004114
Orphanet 58 ORPHA94
UMLS 71 C0004114 C0017636 C0017638 more
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Summaries for Glioma Susceptibility 1

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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 08-Dec-2022)

MalaCards based summary: Glioma Susceptibility 1, also known as astrocytoma, is related to childhood brain stem glioma and chordoid glioma, and has symptoms including headache and seizures. An important gene associated with Glioma Susceptibility 1 is TP53 (Tumor Protein P53), and among its related pathways/superpathways are Transcription_Transcription factor Tubby signaling pathways and Effect of progerin on genes involved in Hutchinson-Gilford progeria syndrome. The drugs Trametinib and Dabrafenib 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 73 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.

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.

Orphanet: 58 A complex group of benign and malignant cerebral tumors arising at any age.

Wikipedia: 75 Astrocytomas are a type of brain tumor. They originate in a particular kind of glial cells, star-shaped... more...
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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 1800)
# Related Disease Score Top Affiliating Genes
1 childhood brain stem glioma 33.0 IDH1 H3C1 H3-3A
2 chordoid glioma 32.9 IDH2 IDH1
3 anaplastic oligodendroglioma, idh-mutant and 1p/19q-codeleted 32.8 IDH2 IDH1 H3C1
4 adult oligodendroglioma 32.8 IDH2 IDH1 H3-3A
5 spinal cord oligodendroglioma 32.7 TP53 IDH1
6 childhood oligodendroglioma 32.7 IDH2 IDH1 H3-3A
7 childhood astrocytic tumor 32.7 TP53 IDH1 H3-3A
8 idh-mutant anaplastic astrocytoma 32.7 IDH2 IDH1
9 mixed oligodendroglioma-astrocytoma 32.6 TP53 IDH2 IDH1
10 adult astrocytic tumor 32.5 TP53 IDH2 IDH1 H3C1 H3-3A
11 adult brain stem glioma 32.4 IDH1 H3-3A
12 gliosarcoma 32.2 TP53 LZTR1 IDH2 IDH1 H3-3A ERBB2
13 brain stem astrocytic neoplasm 32.1 IDH1 H3-3A
14 histone mutated tumor 32.1 TP53 IDH1 H3C1 H3-3A
15 anaplastic astrocytoma 32.0 TP53 IDH2 IDH1 H3-3A
16 brain cancer 31.8 TP53 MIR21 IDH2 IDH1 H3-3A
17 brain glioma 31.4 TP53 IDH2 IDH1 H3-3A ERBB2
18 giant cell glioblastoma 31.3 TP53 LZTR1 IDH2 IDH1 H3-3A
19 pilocytic astrocytoma 31.2 TP53 IDH2 IDH1 H3C1 H3-3A
20 pleomorphic xanthoastrocytoma 31.2 TP53 IDH2 IDH1 H3-3A
21 anaplastic oligodendroglioma 31.2 TP53 IDH2 IDH1 H3-3A
22 gliomatosis cerebri 31.1 TP53 IDH2 IDH1 H3-3A
23 mixed glioma 31.0 TP53 IDH2 IDH1
24 diffuse large b-cell lymphoma 30.9 MIR21 MIR106A H3C1 H3-3A
25 diffuse midline glioma, h3 k27m-mutant 30.9 TP53 IDH1 H3C1 H3-3A
26 gemistocytic astrocytoma 30.9 TP53 IDH2 IDH1
27 astrocytoma, idh-mutant, grade 4 30.9 IDH2 IDH1 H3-3A
28 dysembryoplastic neuroepithelial tumor 30.9 IDH2 IDH1 H3-3A
29 cerebrum cancer 30.9 TP53 IDH1 H3-3A
30 brain stem glioma 30.9 TP53 IDH2 IDH1 H3C1 H3-3A
31 esophagus adenocarcinoma 30.9 TP53 MIR21 ERBB2
32 spinal cord disease 30.9 TP53 IDH2 IDH1 H3-3A
33 low grade glioma 30.8 TP53 MIR21 IDH2 IDH1 H3C1 H3-3A
34 cholangiocarcinoma 30.8 TP53 MIR21 IDH2 IDH1 ERBB2
35 alpha-thalassemia 30.7 TP53 IDH2 IDH1 H3-3A AIRN
36 spinal cancer 30.7 LZTR1 IDH1 H3-3A
37 juvenile pilocytic astrocytoma 30.7 TP53 IDH1 H3-3A
38 spinal cord astrocytoma 30.7 IDH2 IDH1 H3-3A
39 idh-wildtype glioblastoma 30.7 TP53 IDH2 IDH1 H3-3A
40 suppression of tumorigenicity 12 30.6 TP53 IDH1 ERBB2
41 skin melanoma 30.6 TP53 MIR21 IDH1 ERBB2
42 cerebellar astrocytoma 30.6 IDH1 H3-3A
43 fibrillary astrocytoma 30.6 TP53 IDH2 IDH1 H3-3A
44 anaplastic pleomorphic xanthoastrocytoma 30.5 IDH1 H3-3A
45 pilocytic astrocytoma of cerebellum 30.5 IDH1 H3-3A
46 glioma 30.5 TP53 MIR21 IDH2 IDH1
47 atypical teratoid rhabdoid tumor 30.5 TP53 IDH1 H3-3A
48 glioblastoma 30.5 TP53 MIR21 IDH2 IDH1 H3C1 H3-3A
49 colonic benign neoplasm 30.5 TP53 MIR21 ERBB2
50 spinal cord glioma 30.4 IDH1 H3-3A

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

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Human phenotypes related to Glioma Susceptibility 1:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 astrocytoma 30 HP:0009592
2 ependymoma 30 HP:0002888
3 glioblastoma multiforme 30 HP:0012174

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neoplasia:
glioblastoma multiforme
astrocytomas
oligodendrogliomas
ependymomas
subependymomas

Clinical features from OMIM®:

137800 (Updated 08-Dec-2022)

UMLS symptoms related to Glioma Susceptibility 1:


headache; seizures
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
Trametinib Approved Phase 4 871700-17-3 11707110
2
Dabrafenib Approved, Investigational Phase 4 1195765-45-7 44462760
3
Lactitol Approved, Investigational Phase 4 585-86-4 157355
4
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
5
Tannic acid Approved Phase 4 1401-55-4 16129878 16129778
6
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
7
Aminolevulinic acid Approved Phase 3 106-60-5 137
8
Tranexamic acid Approved Phase 3 1197-18-8 5526
9
Ifosfamide Approved Phase 3 3778-73-2 3690
10
Citalopram Approved Phase 2, Phase 3 59729-32-7, 59729-33-8 2771
11
Dextroamphetamine Approved, Illicit, Investigational Phase 3 51-64-9, 300-62-9 5826 3007
12
Meloxicam Approved, Vet_approved Phase 2, Phase 3 71125-38-7 54677470 5281106
13
Tioguanine Approved Phase 3 154-42-7 2723601
14
Leflunomide Approved, Investigational Phase 3 75706-12-6 3899
15
Somatostatin Approved, Investigational Phase 2, Phase 3 38916-34-6, 51110-01-1 53481605 16129706
16
Modafinil Approved, Investigational Phase 3 68693-11-8 4236
17
Trioxsalen Approved Phase 3 3902-71-4 5585
18
Lomustine Approved, Investigational Phase 2, Phase 3 13010-47-4 3950
19
Sorbitol Approved, Investigational Phase 2, Phase 3 69-65-8, 50-70-4 453 6251 5780
20
Hydroxychloroquine Approved Phase 2, Phase 3 118-42-3 3652
21
Tofacitinib Approved, Investigational Phase 3 477600-75-2 9926791
22
Etoposide Approved Phase 3 33419-42-0 36462
23
Eflornithine Approved, Withdrawn Phase 3 70052-12-9 3009
24
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
25
Vinblastine Approved Phase 3 865-21-4 241903 13342
26
Carbidopa Approved Phase 3 28860-95-9 34359 38101
27
Dopamine Approved Phase 3 62-31-7, 51-61-6 681
28
Duloxetine Approved Phase 3 136434-34-9, 116539-59-4 60835
29
Norepinephrine Approved Phase 3 51-41-2 439260
30
Ascorbic acid Approved, Nutraceutical Phase 3 50-81-7 54676860 54670067 5785
31
Aspartic acid Approved, Nutraceutical Phase 3 56-84-8 5960
32
Ornithine Approved, Nutraceutical Phase 3 3184-13-2, 70-26-8 6262
33
Vitamin A Approved, Nutraceutical, Vet_approved Phase 3 22737-96-8, 68-26-8 5280382 445354
34
Palifosfamide Investigational Phase 3 31645-39-3 100427
35
Dexetimide Withdrawn Phase 2, Phase 3 21888-98-2 30843
36
Semustine Experimental, Investigational Phase 3 13909-09-6 5198
37
Diethyl ether Experimental Phase 3 60-29-7 3283
38
Rindopepimut Investigational Phase 3 1108208-65-6
39
Dihematoporphyrin ether Investigational Phase 3 97067-70-4
40
Nimotuzumab Investigational Phase 3 780758-10-3
41
Veliparib Investigational Phase 2, Phase 3 912444-00-9 11960529
42
Trabedersen Investigational Phase 3 925681-61-4
43
Dianhydrogalactitol Investigational Phase 3 23261-20-3
44 Dopamine Uptake Inhibitors Phase 3
45
Edotreotide Phase 2, Phase 3 23724894
46 Central Nervous System Stimulants Phase 3
47 Anesthetics, General Phase 3
48 Hematoporphyrin Derivative Phase 3
49 Anesthetics, Inhalation Phase 3
50 Hematoporphyrins Phase 3

Interventional clinical trials:

(show top 50) (show all 2514)
# 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 Anticonvulsant Agent;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 Pilot Study Evaluating the Optimization of the ORBEYE Blue Light Filter During Fluorescence-Guided Resection of Gliomas Recruiting NCT04937244 Phase 4
8 Pilot Study of Resection and GammaTile Followed by Concomitant External Beam Radiation Therapy (EBRT) and Temozolomide (TMZ) and Adjuvant in Newly Diagnosed Glioblastoma (GBM) Recruiting NCT05342883 Phase 4
9 A Single Center, Open-Label, Randomized Study to Evaluate the Safety and Efficacy of Neoadjuvant and Adjuvant Pembrolizumab on Top of Standard Chemo-Radiotherapy (Stupp Protocol) in Treatment of Patients With Newly Diagnosed Glioblastoma Multiforme (GBM). Not yet recruiting NCT05235737 Phase 4 Pembrolizumab
10 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
11 A Prospective, Non-randomized, Concurrent Control, Open Label, Post-approval Study of NovoTTF-100A in Recurrent GBM Patient Terminated NCT01756729 Phase 4
12 Phase 3 Study of Carmustine Sustained Release Implant (CASANT) to Treat Newly Diagnosed Malignant Glioma Unknown status NCT01656980 Phase 3 Carmustine
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 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
15 PHASE 3 STUDY OF EFFICACY OF TRANEXAMIC ACID IN BRAIN TUMORS RESECTIONS Unknown status NCT01655927 Phase 3 Tranexamic Acid;Placebo: Saline
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 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
18 Cognitive Rehabilitation of Glioma Patients: a Prospective, Randomized Study Unknown status NCT00256425 Phase 3
19 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
20 Ultimate Low Grade Glioma Study Unknown status NCT00003015 Phase 3 carboplatin;vincristine sulfate
21 Barrow 5-ALA Intraoperative Confocal Evaluation Trial Unknown status NCT01502280 Phase 3 5-Aminolevulinic acid (ALA);Placebo - ascorbic acid
22 The Effect of Escitalopram on Mood, Quality of Life and Cognitive Functioning in Glioblastoma Patients Unknown status NCT02623231 Phase 2, Phase 3 Escitalopram;placebo
23 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
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 A Phase III Randomized Study (Phase I Closed) of Radiation Therapy and Temozolomide Versus Radiation Therapy and Nitrosourea for Anaplastic Astrocytoma And Mixed Anaplastic Oligoastrocytoma (Astrocytoma Dominant) Completed NCT00004259 Phase 3 BCNU 80mg/m2;TMZ 200mg/m2;CCNU;BCNU 150mg/m2;BCNU 200mg/m2;TMZ 150mg/m2 six 6-week cycles;TMZ 150mg/m2 six 8-week cycles
27 Chemotherapy for Progressive Low Grade Astrocytoma in Children Less Than Ten Years Old Completed NCT00002944 Phase 3 carboplatin;lomustine;procarbazine hydrochloride;thioguanine;vincristine sulfate
28 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
29 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
30 NOA-04 Randomized Phase III Study of Sequential Radiochemotherapy of Anaplastic Glioma With PCV or Temozolomide Completed NCT00717210 Phase 3 Temozolomide
31 Radiotherapy for Malignant Astrocytomas in the Elderly Completed NCT00430911 Phase 3 Radiotherapy
32 A Randomized, Double-blind, Placebo-controlled Study of Everolimus in the Treatment of Patients With Subependymal Giant Cell Astrocytomas (SEGA) Associated With Tuberous Sclerosis Complex (TSC) Completed NCT00789828 Phase 3 Everolimus;Placebo
33 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
34 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
35 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
36 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
37 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
38 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)
39 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
40 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)
41 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
42 Concomitant and Adjuvant Temozolomide and Radiotherapy for Newly Diagnosed Glioblastoma Multiforme - A Randomized Phase III Study Completed NCT00006353 Phase 3 temozolomide
43 A Phase III Randomized Study of SU101 Versus Procarbazine for Patients With Glioblastoma Multiforme in First Relapse Completed NCT00003293 Phase 3 leflunomide;procarbazine hydrochloride
44 Chloroquine as Adjuvant to the Treatment of Glioblastoma Multiforme, A Randomized Trial Completed NCT00224978 Phase 3 Chloroquine
45 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
46 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
47 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
48 Phase III Trial Exploring the Combination of Bevacizumab and Lomustine in Patients With First Recurrence of a Glioblastoma Completed NCT01290939 Phase 3 lomustine
49 PHASE III STUDY OF ADJUVANT PROCARBAZINE, CCNU AND VINCRISTINE CHEMOTHERAPY IN PATIENTS WITH HIGHLY ANAPLASTIC OLIGODENDROGLIOMA Completed NCT00002840 Phase 3 lomustine;procarbazine hydrochloride;vincristine sulfate
50 Phase III Intergroup Randomized Comparison of Radiation Alone vs. Pre-Radiation Chemotherapy for Pure and Mixed Anaplastic Oligodendrogliomas Completed NCT00002569 Phase 3 lomustine;procarbazine hydrochloride;vincristine sulfate

Search NIH Clinical Center for Glioma Susceptibility 1

Inferred drug relations via UMLS 71 / NDF-RT 50 :


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 28 ERBB2 IDH1 TP53
2 Astrocytoma 28
3 Glioma, Susceptibility to, Somatic 28
Sources

Anatomical Context for Glioma Susceptibility 1

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Organs/tissues related to Glioma Susceptibility 1:

MalaCards : Brain, Spinal Cord, T Cells, Bone Marrow, Myeloid, Endothelial, Breast
ODiseA: Brain
Sources

Publications for Glioma Susceptibility 1

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Articles related to Glioma Susceptibility 1:

(show top 50) (show all 52024)
# Title Authors PMID Year
1
Germline p53 gene mutations in subsets of glioma patients. 62 57 5
8308926 1994
2
Nf1;Trp53 mutant mice develop glioblastoma with evidence of strain-specific effects. 53 62 57
10973261 2000
3
p53 mutation, EGFR gene amplification and loss of heterozygosity on chromosome 10, 17 p in human gliomas. 53 62 57
11776043 2000
4
Glioma Groups Based on 1p/19q, IDH, and TERT Promoter Mutations in Tumors. 62 57
26061753 2015
5
SHMT2 drives glioma cell survival in ischaemia but imposes a dependence on glycine clearance. 62 57
25855294 2015
6
Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma. 62 57
23817572 2013
7
Transforming fusions of FGFR and TACC genes in human glioblastoma. 62 57
22837387 2012
8
Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma. 62 57
22286061 2012
9
Mutations in CIC and FUBP1 contribute to human oligodendroglioma. 62 57
21817013 2011
10
IDH1 R132H decreases proliferation of glioma cell lines in vitro and in vivo. 62 57
21446021 2011
11
A genome-wide RNA interference screen reveals an essential CREB3L2-ATF5-MCL1 survival pathway in malignant glioma with therapeutic implications. 62 57
20495567 2010
12
Inherited predisposition to glioma. 62 57
20150373 2010
13
The transcriptional network for mesenchymal transformation of brain tumours. 62 57
20032975 2010
14
A monoclonal antibody IMab-1 specifically recognizes IDH1R132H, the most common glioma-derived mutation. 62 5
19818334 2009
15
Alterations of BRAF and HIPK2 loci predominate in sporadic pilocytic astrocytoma. 62 57
19794125 2009
16
IDH1 mutations in low-grade astrocytomas predict survival but not response to temozolomide. 62 57
19933982 2009
17
IDH1 and IDH2 mutations in gliomas. 53 57
19228619 2009
18
p53 and Pten control neural and glioma stem/progenitor cell renewal and differentiation. 62 57
18948956 2008
19
An integrated genomic analysis of human glioblastoma multiforme. 62 57
18772396 2008
20
Familiality in brain tumors. 62 57
18809838 2008
21
Glioma stem cells promote radioresistance by preferential activation of the DNA damage response. 62 57
17051156 2006
22
Gene expression profiling reveals molecularly and clinically distinct subtypes of glioblastoma multiforme. 62 57
15827123 2005
23
Susceptibility to astrocytoma in mice mutant for Nf1 and Trp53 is linked to chromosome 11 and subject to epigenetic effects. 62 57
15319471 2004
24
Immunohistochemical detection of EGFRvIII in high malignancy grade astrocytomas and evaluation of prognostic significance. 62 57
15290895 2004
25
High-resolution genome-wide allelotype analysis identifies loss of chromosome 14q as a recurrent genetic alteration in astrocytic tumours. 62 57
12107846 2002
26
Mouse glioma gene expression profiling identifies novel human glioma-associated genes. 62 57
11891838 2002
27
The expression of a new variant of the pro-apoptotic molecule Bax, Baxpsi, is correlated with an increased survival of glioblastoma multiforme patients. 62 57
11912183 2002
28
OLIG2 as a specific marker of oligodendroglial tumour cells. 62 57
11498220 2001
29
Genetic epidemiology of glioma. 62 57
11161412 2001
30
Segregation analysis of cancer in families of glioma patients. 62 57
11180451 2001
31
Combined activation of Ras and Akt in neural progenitors induces glioblastoma formation in mice. 62 57
10802656 2000
32
Investigation of germline PTEN, p53, p16(INK4A)/p14(ARF), and CDK4 alterations in familial glioma. 62 57
10797439 2000
33
A transcript map of the chromosome 19q-arm glioma tumor suppressor region. 62 57
10708517 2000
34
A novel gene, LGI1, from 10q24 is rearranged and downregulated in malignant brain tumors. 62 57
9879993 1998
35
DMBT1, a new member of the SRCR superfamily, on chromosome 10q25.3-26.1 is deleted in malignant brain tumours. 62 57
9288095 1997
36
Loss of heterozygosity of a locus on 17p13.3, independent of p53, is associated with higher grades of astrocytic tumours. 62 57
9266974 1997
37
Molecular pathways in the formation of gliomas. 62 57
8586467 1995
38
Constitutional p53 mutations associated with brain tumors in young adults. 62 57
7664239 1995
39
Deletion mapping of the long arm of chromosome 10 in glioblastoma multiforme. 62 57
7687872 1993
40
Cytogenetic and loss of heterozygosity studies in ependymomas, pilocytic astrocytomas, and oligodendrogliomas. 62 57
1283324 1992
41
Chromosome abnormalities in low-grade central nervous system tumors. 62 57
1591709 1992
42
Molecular analysis of deletions of the short arm of chromosome 9 in human gliomas. 62 57
1568221 1992
43
Prenatal diagnosis of fetal glioblastoma multiforme. 62 57
2552427 1989
44
Loss of distinct regions on the short arm of chromosome 17 associated with tumorigenesis of human astrocytomas. 62 57
2571151 1989
45
Simultaneous presentation of glioblastoma multiforme in siblings two and five years old: case report. 62 57
2538772 1989
46
Loss of heterozygosity on chromosome 10 in human glioblastoma multiforme. 62 57
2544511 1989
47
Familial glioma: occurrence within the "familial cancer syndrome" and systemic malformations. 62 57
3612193 1987
48
Polysomy of chromosome 7 is correlated with overexpression of the erbB oncogene in human glioblastoma cell lines. 62 57
3759084 1986
49
Glioblastoma multiforme in three family members, including a case of true multicentricity. 62 57
3014072 1986
50
Familial glioblastoma multiforme without neurofibromatosis. 62 57
2992272 1985
Sources

Variations for Glioma Susceptibility 1

About this section

ClinVar genetic disease variations for Glioma Susceptibility 1:

5 (show all 44)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ERBB2 NM_004448.4(ERBB2):c.2740G>A (p.Glu914Lys) SNV Pathogenic
 13878 rs28933368 GRCh37: 17:37881974-37881974
GRCh38: 17:39725721-39725721
2 TP53 NM_000546.6(TP53):c.72dup (p.Leu25fs) DUP Pathogenic
 1341341 GRCh37: 17:7579840-7579841
GRCh38: 17:7676522-7676523
3 TP53 NM_000546.6(TP53):c.743G>A (p.Arg248Gln) SNV Pathogenic
 12356 rs11540652 GRCh37: 17:7577538-7577538
GRCh38: 17:7674220-7674220
4 TP53 NM_000546.6(TP53):c.559+1G>A SNV Pathogenic
 428908 rs1131691042 GRCh37: 17:7578370-7578370
GRCh38: 17:7675052-7675052
5 TP53 NM_000546.6(TP53):c.524G>A (p.Arg175His) SNV Pathogenic
 12374 rs28934578 GRCh37: 17:7578406-7578406
GRCh38: 17:7675088-7675088
6 TP53 NM_000546.6(TP53):c.96+1G>T SNV Pathogenic
 482212 rs1131691003 GRCh37: 17:7579699-7579699
GRCh38: 17:7676381-7676381
7 TP53 NM_000546.6(TP53):c.818G>A (p.Arg273His) SNV Pathogenic
 12366 rs28934576 GRCh37: 17:7577120-7577120
GRCh38: 17:7673802-7673802
8 TP53 NM_000546.6(TP53):c.375G>A (p.Thr125=) SNV Pathogenic
 177825 rs55863639 GRCh37: 17:7579312-7579312
GRCh38: 17:7675994-7675994
9 TP53 NM_000546.6(TP53):c.454C>T (p.Pro152Ser) SNV Likely Pathogenic
 482230 rs767328513 GRCh37: 17:7578476-7578476
GRCh38: 17:7675158-7675158
10 PTPN11 NM_002834.5(PTPN11):c.226G>A (p.Glu76Lys) SNV Likely Pathogenic
 13336 rs121918464 GRCh37: 12:112888210-112888210
GRCh38: 12:112450406-112450406
11 TP53 NM_000546.6(TP53):c.799C>T (p.Arg267Trp) SNV Likely Pathogenic
 141764 rs55832599 GRCh37: 17:7577139-7577139
GRCh38: 17:7673821-7673821
12 IDH1 NM_005896.4(IDH1):c.395G>A (p.Arg132His) SNV Likely Pathogenic
Likely Pathogenic
 156444 rs121913500 GRCh37: 2:209113112-209113112
GRCh38: 2:208248388-208248388
13 BAP1 NM_004656.4(BAP1):c.437G>C (p.Arg146Thr) SNV Likely Pathogenic
 1698836 GRCh37: 3:52441415-52441415
GRCh38: 3:52407399-52407399
14 PTPN11 NM_002834.5(PTPN11):c.227A>G (p.Glu76Gly) SNV Likely Pathogenic
 13338 rs121918465 GRCh37: 12:112888211-112888211
GRCh38: 12:112450407-112450407
15 PTPN11 NM_002834.5(PTPN11):c.227A>C (p.Glu76Ala) SNV Likely Pathogenic
 13339 rs121918465 GRCh37: 12:112888211-112888211
GRCh38: 12:112450407-112450407
16 H3-3A NM_002107.7(H3-3A):c.83A>T (p.Lys28Met) SNV Likely Pathogenic
 376435 rs1057519903 GRCh37: 1:226252135-226252135
GRCh38: 1:226064434-226064434
17 FGFR1 NM_023110.3(FGFR1):c.1636A>G (p.Asn546Asp) SNV Likely Pathogenic
 376429 rs1057519898 GRCh37: 8:38274851-38274851
GRCh38: 8:38417333-38417333
18 IDH1 NM_005896.4(IDH1):c.394C>A (p.Arg132Ser) SNV Likely Pathogenic
 375893 rs121913499 GRCh37: 2:209113113-209113113
GRCh38: 2:208248389-208248389
19 FGFR1 NM_023110.3(FGFR1):c.1966A>G (p.Lys656Glu) SNV Likely Pathogenic
 224897 rs869320694 GRCh37: 8:38272308-38272308
GRCh38: 8:38414790-38414790
20 FGFR1 NM_023110.3(FGFR1):c.1543A>G (p.Met515Val) SNV Likely Pathogenic
 376430 rs1057519899 GRCh37: 8:38275397-38275397
GRCh38: 8:38417879-38417879
21 FGFR1 NM_023110.3(FGFR1):c.1638C>A (p.Asn546Lys) SNV Likely Pathogenic
 224896 rs779707422 GRCh37: 8:38274849-38274849
GRCh38: 8:38417331-38417331
22 FGFR1 NM_023110.3(FGFR1):c.1968G>C (p.Lys656Asn) SNV Likely Pathogenic
 376428 rs1057519897 GRCh37: 8:38272306-38272306
GRCh38: 8:38414788-38414788
23 IDH1 NM_005896.4(IDH1):c.394C>T (p.Arg132Cys) SNV Likely Pathogenic
 375891 rs121913499 GRCh37: 2:209113113-209113113
GRCh38: 2:208248389-208248389
24 TP53 NM_000546.6(TP53):c.542G>T (p.Arg181Leu) SNV Risk Factor
 39420 rs397514495 GRCh37: 17:7578388-7578388
GRCh38: 17:7675070-7675070
25 TSC1 NM_000368.5(TSC1):c.359T>C (p.Leu120Pro) SNV Uncertain Significance
 523362 rs1554820262 GRCh37: 9:135800978-135800978
GRCh38: 9:132925591-132925591
26 ARID1B NM_001374828.1(ARID1B):c.1000T>G (p.Cys334Gly) SNV Uncertain Significance
 496813 rs1276300860 GRCh37: 6:157099814-157099814
GRCh38: 6:156778680-156778680
27 EPHA5 NM_001281766.3(EPHA5):c.1043A>G (p.Asp348Gly) SNV Uncertain Significance
 503605 rs200932017 GRCh37: 4:66361129-66361129
GRCh38: 4:65495411-65495411
28 KMT2D NM_003482.4(KMT2D):c.15876G>C (p.Glu5292Asp) SNV Uncertain Significance
 503606 rs1365163460 GRCh37: 12:49418638-49418638
GRCh38: 12:49024855-49024855
29 ERBB2 NM_004448.4(ERBB2):c.760-5C>T SNV Uncertain Significance
 1319104 GRCh37: 17:37866588-37866588
GRCh38: 17:39710335-39710335
30 ERBB2 NM_004448.4(ERBB2):c.734C>T (p.Thr245Met) SNV Uncertain Significance
 134091 rs376183465 GRCh37: 17:37866429-37866429
GRCh38: 17:39710176-39710176
31 ERBB2 NM_004448.4(ERBB2):c.3044G>A (p.Gly1015Glu) SNV Uncertain Significance
 842287 rs140272156 GRCh37: 17:37883141-37883141
GRCh38: 17:39726888-39726888
32 ERBB2 NM_004448.4(ERBB2):c.1466C>T (p.Pro489Leu) SNV Uncertain Significance
 134071 rs142456637 GRCh37: 17:37872145-37872145
GRCh38: 17:39715892-39715892
33 ARID1A NM_006015.6(ARID1A):c.48GCC[6] (p.Pro21dup) MICROSAT Uncertain Significance
 434329 rs748085214 GRCh37: 1:27022939-27022940
GRCh38: 1:26696448-26696449
34 ERBB2 NM_004448.4(ERBB2):c.563G>A (p.Arg188His) SNV Uncertain Significance
 1319105 GRCh37: 17:37865694-37865694
GRCh38: 17:39709441-39709441
35 ERBB2 NM_004448.4(ERBB2):c.3149C>T (p.Ser1050Leu) SNV Uncertain Significance
 1319106 GRCh37: 17:37883246-37883246
GRCh38: 17:39726993-39726993
36 ERBB2 NM_004448.4(ERBB2):c.1738-5C>G SNV Uncertain Significance
 747953 rs749633839 GRCh37: 17:37873568-37873568
GRCh38: 17:39717315-39717315
37 CPLANE1 NM_001384732.1(CPLANE1):c.356A>G (p.Tyr119Cys) SNV Uncertain Significance
 1435621 GRCh37: 5:37244691-37244691
GRCh38: 5:37244589-37244589
38 TP53 NM_000546.6(TP53):c.848G>A (p.Arg283His) SNV Uncertain Significance
 142324 rs371409680 GRCh37: 17:7577090-7577090
GRCh38: 17:7673772-7673772
39 TP53 NM_000546.6(TP53):c.466C>T (p.Arg156Cys) SNV Uncertain Significance
 127810 rs563378859 GRCh37: 17:7578464-7578464
GRCh38: 17:7675146-7675146
40 TP53 NM_000546.6(TP53):c.461G>A (p.Gly154Asp) SNV Uncertain Significance
 237950 rs762846821 GRCh37: 17:7578469-7578469
GRCh38: 17:7675151-7675151
41 TP53 NM_000546.6(TP53):c.847C>T (p.Arg283Cys) SNV Uncertain Significance
 127824 rs149633775 GRCh37: 17:7577091-7577091
GRCh38: 17:7673773-7673773
42 TP53 NM_000546.6(TP53):c.760A>G (p.Ile254Val) SNV Uncertain Significance
 406605 rs746601313 GRCh37: 17:7577521-7577521
GRCh38: 17:7674203-7674203
43 CHEK2 NM_007194.4(CHEK2):c.1100del (p.Thr367fs) DEL Uncertain Significance
 128042 rs555607708 GRCh37: 22:29091857-29091857
GRCh38: 22:28695869-28695869
44 PPARG NM_138711.6(PPARG):c.1341C>T (p.His447=) SNV Benign
 8139 rs3856806 GRCh37: 3:12475557-12475557
GRCh38: 3:12434058-12434058

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

73 (show all 14)
# Symbol AA change Variation ID SNP ID
1 H3-3A p.Lys28Met VAR_079021 rs1057519903
2 H3-3A p.Gly35Arg VAR_079022 rs1553260624
3 H3-3A p.Gly35Val VAR_079023
4 H3C1 p.Lys28Met VAR_079018 rs1057519904
5 IDH2 p.Pro158Leu VAR_073181
6 IDH2 p.Pro162Ser VAR_073182
7 IDH2 p.Arg172Gly VAR_073183 rs1057519906
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:

8 (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 COSM88262556 ZRSR2 central nervous system,brain,glioma,oligodendroglioma c.220G>A p.E74K 23:15803704-15803704 16
2 COSM102048054 ZFHX3 central nervous system,brain,glioma,oligodendroglioma c.-23-6501G>A p.? 16:72957466-72957466 16
3 COSM149332069 ZFHX3 central nervous system,brain,glioma,oligodendroglioma c.2680G>A p.D894N 16:72957466-72957466 16
4 COSM87281264 ZFHX3 central nervous system,brain,glioma,oligodendroglioma c.3986G>A p.G1329E 16:72798696-72798696 16
5 COSM149332063 ZFHX3 central nervous system,brain,glioma,oligodendroglioma c.9154G>A p.V3052I 16:72793528-72793528 16
6 COSM149268215 ZFHX3 central nervous system,brain,glioma,oligodendroglioma c.6025T>C p.Y2009H 16:72796657-72796657 16
7 COSM149261414 ZFHX3 central nervous system,brain,glioma,oligodendroglioma c.8300G>A p.G2767E 16:72794382-72794382 16
8 COSM149318917 ZFHX3 central nervous system,brain,glioma,oligodendroglioma c.8600C>T p.S2867F 16:72794082-72794082 16
9 COSM102020229 ZFHX3 central nervous system,brain,glioma,oligodendroglioma c.5558G>A p.G1853E 16:72794382-72794382 16
10 COSM87291808 ZFHX3 central nervous system,brain,glioma,oligodendroglioma c.8600C>T p.S2867F 16:72794082-72794082 16
11 COSM87274123 ZFHX3 central nervous system,brain,glioma,oligodendroglioma c.6025T>C p.Y2009H 16:72796657-72796657 16
12 COSM102031113 ZFHX3 central nervous system,brain,glioma,oligodendroglioma c.1244G>A p.G415E 16:72798696-72798696 16
13 COSM87296761 ZFHX3 central nervous system,brain,glioma,oligodendroglioma c.9154G>A p.V3052I 16:72793528-72793528 16
14 COSM87271162 ZFHX3 central nervous system,brain,glioma,oligodendroglioma c.8300G>A p.G2767E 16:72794382-72794382 16
15 COSM102048046 ZFHX3 central nervous system,brain,glioma,oligodendroglioma c.6412G>A p.V2138I 16:72793528-72793528 16
16 COSM102022940 ZFHX3 central nervous system,brain,glioma,oligodendroglioma c.3283T>C p.Y1095H 16:72796657-72796657 16
17 COSM102042415 ZFHX3 central nervous system,brain,glioma,oligodendroglioma c.5858C>T p.S1953F 16:72794082-72794082 16
18 COSM149290610 ZFHX3 central nervous system,brain,glioma,oligodendroglioma c.3986G>A p.G1329E 16:72798696-72798696 16
19 COSM87296765 ZFHX3 central nervous system,brain,glioma,oligodendroglioma c.2680G>A p.D894N 16:72957466-72957466 16
20 COSM89896611 YES1 central nervous system,brain,glioma,oligodendroglioma c.259G>C p.A87P 18:756569-756569 16
21 COSM152022282 YES1 central nervous system,brain,glioma,oligodendroglioma c.259G>C p.A87P 18:756569-756569 16
22 COSM136838141 YES1 central nervous system,brain,glioma,oligodendroglioma c.274G>C p.A92P 18:756569-756569 16
23 COSM128446658 YAP1 central nervous system,brain,glioma,oligodendroglioma c.870+3470G>A p.? 11:102209544-102209544 16
24 COSM133267069 YAP1 central nervous system,brain,glioma,oligodendroglioma c.996+3458G>A p.? 11:102209544-102209544 16
25 COSM127992965 YAP1 central nervous system,brain,glioma,oligodendroglioma c.984+3470G>A p.? 11:102209544-102209544 16
26 COSM145022716 YAP1 central nervous system,brain,glioma,oligodendroglioma c.882+3458G>A p.? 11:102209544-102209544 16
27 COSM90942496 YAP1 central nervous system,brain,glioma,oligodendroglioma c.910G>A p.A304T 11:102209544-102209544 16
28 COSM143036045 YAP1 central nervous system,brain,glioma,oligodendroglioma c.1024G>A p.A342T 11:102209544-102209544 16
29 COSM126967812 YAP1 central nervous system,brain,glioma,oligodendroglioma c.478G>A p.A160T 11:102209544-102209544 16
30 COSM85231459 YAP1 central nervous system,brain,glioma,oligodendroglioma c.1012G>A p.A338T 11:102209544-102209544 16
31 COSM91365167 WT1 central nervous system,brain,glioma,oligodendroglioma c.7G>A p.D3N 11:32435339-32435339 16
32 COSM149722178 WT1 central nervous system,brain,glioma,oligodendroglioma c.7G>A p.D3N 11:32435339-32435339 16
33 COSM113469545 WT1 central nervous system,brain,glioma,oligodendroglioma c.7G>A p.D3N 11:32435339-32435339 16
34 COSM148571772 WT1 central nervous system,brain,glioma,oligodendroglioma c.7G>A p.D3N 11:32435339-32435339 16
35 COSM111523676 WT1 central nervous system,brain,glioma,oligodendroglioma c.7G>A p.D3N 11:32435339-32435339 16
36 COSM147406409 WT1 central nervous system,brain,glioma,oligodendroglioma c.7G>A p.D3N 11:32435339-32435339 16
37 COSM116183918 UQCC5 central nervous system,brain,glioma,oligodendroglioma c.152-17183C>T p.? 3:52561835-52561835 16
38 COSM85472105 TSHR central nervous system,brain,glioma,oligodendroglioma c.1560G>A p.W520* 14:81143618-81143618 16
39 COSM131097528 TSHR central nervous system,brain,glioma,oligodendroglioma c.1765C>T p.L589F 14:81143823-81143823 16
40 COSM85481560 TSHR central nervous system,brain,glioma,oligodendroglioma c.1765C>T p.L589F 14:81143823-81143823 16
41 COSM131089332 TSHR central nervous system,brain,glioma,oligodendroglioma c.1560G>A p.W520* 14:81143618-81143618 16
42 COSM150575027 TSC2 central nervous system,brain,glioma,oligodendroglioma c.2999G>A p.R1000K 16:2079196-2079196 16
43 COSM150313146 TSC2 central nervous system,brain,glioma,oligodendroglioma c.2999G>A p.R1000K 16:2079196-2079196 16
44 COSM110102317 TSC2 central nervous system,brain,glioma,oligodendroglioma c.2891G>A p.R964K 16:2079196-2079196 16
45 COSM149800845 TSC2 central nervous system,brain,glioma,oligodendroglioma c.2999G>A p.R1000K 16:2079196-2079196 16
46 COSM147690761 TSC2 central nervous system,brain,glioma,oligodendroglioma c.3002G>A p.R1001K 16:2079196-2079196 16
47 COSM151747235 TSC2 central nervous system,brain,glioma,oligodendroglioma c.3002G>A p.R1001K 16:2079196-2079196 16
48 COSM136616455 TSC2 central nervous system,brain,glioma,oligodendroglioma c.3032G>A p.R1011K 16:2079196-2079196 16
49 COSM150353912 TSC2 central nervous system,brain,glioma,oligodendroglioma c.3002G>A p.R1001K 16:2079196-2079196 16
50 COSM90402698 TSC2 central nervous system,brain,glioma,oligodendroglioma c.3131G>A p.R1044K 16:2079196-2079196 16

Copy number variations for Glioma Susceptibility 1 from CNVD:

6 (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

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

Pathways for Glioma Susceptibility 1

About this section

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

# Super pathways Score Top Affiliating Genes
1
Transcription_Transcription factor Tubby signaling pathways 22
10.55 TP53 H3C1 H3-3A
2
Effect of progerin on genes involved in Hutchinson-Gilford progeria syndrome 74
10.37 TP53 H3C1 H3-3A
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 isocitrate metabolic process GO:0006102 9.26 IDH2 IDH1
2 glyoxylate cycle GO:0006097 8.92 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 8.92 IDH2 IDH1
Sources

Sources for Glioma Susceptibility 1

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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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