GLM1
MCID: GLM040
MIFTS: 81

Glioma Susceptibility 1 (GLM1)

Categories: Cancer diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Glioma Susceptibility 1

MalaCards integrated aliases for Glioma Susceptibility 1:

Name: Glioma Susceptibility 1 56 29 6
Astrocytoma 58 73 71
Glioma, Susceptibility to, Somatic 56 29
Glioblastoma Multiforme 73 71
Glioblastoma, Somatic 56 13
Oligodendroglioma 73 71
Glioma 73 71
Glm1 56 73
Well Differentiated Oligodendroglioma 71
Glioma, Susceptibility, Type 1 39
Familial Glioma of Brain 73
Astrocytic Tumor 58
Ependymal Tumor 58
Glioma Somatic 56
Glioblastoma 71
Glioma 1 73
Gbm 73
Glm 73

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:

56
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:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM 56 137800
OMIM Phenotypic Series 56 PS137800
MeSH 43 D005910
MESH via Orphanet 44 D001254
ICD10 via Orphanet 33 C71.7
UMLS via Orphanet 72 C0004114 C0014474
Orphanet 58 ORPHA301 ORPHA94
UMLS 71 C0004114 C0017636 C0017638 more

Summaries for Glioma Susceptibility 1

OMIM : 56 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 (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)

MalaCards based summary : Glioma Susceptibility 1, also known as astrocytoma, is related to spinal cord oligodendroglioma and juvenile astrocytoma, and has symptoms including seizures and headache. An important gene associated with Glioma Susceptibility 1 is IDH1 (Isocitrate Dehydrogenase (NADP(+)) 1), and among its related pathways/superpathways are Innate Immune System and ERK Signaling. The drugs Midazolam and Trametinib have been mentioned in the context of this disorder. Affiliated tissues include brain, t cells and endothelial, and related phenotypes are glioblastoma multiforme and abnormal cell morphology

UniProtKB/Swiss-Prot : 73 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.

Related Diseases for Glioma Susceptibility 1

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 1684)
# Related Disease Score Top Affiliating Genes
1 spinal cord oligodendroglioma 35.1 TP53 IDH1 FGFR1 EGFR
2 juvenile astrocytoma 34.9 TP53 IDH1 BRAF
3 pilomyxoid astrocytoma 34.8 IDH1 FGFR1 BRAF
4 pilocytic astrocytoma of cerebellum 34.5 IDH1 BRAF
5 giant cell glioblastoma 34.2 TP53 PTEN IDH1 FGFR1 EGFR BRAF
6 mismatch repair cancer syndrome 34.0 PTEN PMS2 MSH2
7 adult astrocytic tumour 33.6 TP53 PTEN IDH1
8 astrocytoma 33.0 PTPN11 MIR21 IDH1 FGFR1
9 brain cancer 32.9 TP53 PTPN11 PTEN PMS2 PIK3CA NRAS
10 grade iii astrocytoma 32.6 TP53 PTEN IDH1 EGFR
11 meningioma, familial 32.5 TP53 PTEN IDH1 ERBB2 EGFR
12 gliosarcoma 32.3 TP53 PTEN IDH1 FGFR1 ERBB2 EGFR
13 medulloblastoma 32.3 TP53 PTPN11 PTEN PIK3CA NRAS MTOR
14 oligodendroglioma 32.3 TP53 PTEN PMS2 MSH2 IDH1 FGFR1
15 lymphoma 32.0 TP53 PTPN11 PMS2 PIK3CA NRAS MSH2
16 exanthem 32.0 MTOR HRAS ERBB2 EGFR
17 neurofibromatosis, type iv, of riccardi 32.0 TP53 PTPN11 PTEN MTOR HRAS
18 melanoma 32.0 TP53 PTEN PIK3CA NRAS MTOR MIR222
19 breast cancer 31.9 TP53 PTPN11 PTEN PMS2 PIK3CA NRAS
20 gliomatosis cerebri 31.9 TP53 PTEN IDH1 EGFR BRAF
21 adenocarcinoma 31.9 TP53 PTEN PIK3CA MSH2 HRAS FGFR1
22 fibrillary astrocytoma 31.9 TP53 PTEN IDH1 EGFR
23 colorectal cancer 31.9 TP53 PTEN PMS2 PIK3CA NRAS MTOR
24 leukemia, acute lymphoblastic 31.8 PTPN11 PMS2 MIR222 MIR221 MIR21 HRAS
25 leukemia, acute myeloid 31.8 TP53 PTPN11 PTEN NRAS MTOR MIR222
26 myeloma, multiple 31.8 TP53 PTPN11 PTEN NRAS MTOR MIR21
27 pleomorphic xanthoastrocytoma 31.8 TP53 IDH1 BRAF
28 adenoma 31.8 TP53 PIK3CA MSH2 BRAF
29 brain glioma 31.7 TP53 IDH1 EGFR
30 leukemia, chronic myeloid 31.7 TP53 PTPN11 PTEN NRAS HRAS FGFR1
31 colon adenocarcinoma 31.7 TP53 PTEN PMS2 PIK3CA MIR21 ERBB2
32 mixed glioma 31.7 TP53 PTEN IDH1 EGFR
33 glioma 31.7 TP53 PTEN PIK3CA MIR222 MIR221 MIR21
34 myelodysplastic syndrome 31.7 TP53 PTPN11 PTEN NRAS IDH1 HRAS
35 lung cancer 31.7 TP53 PTEN PIK3CA NRAS MTOR MIR222
36 bladder cancer 31.6 TP53 PTEN PIK3CA NRAS MIR222 MIR221
37 ovarian cancer 31.6 TP53 PTEN PMS2 PIK3CA MTOR MSH2
38 li-fraumeni syndrome 31.6 TP53 PTEN PMS2 MSH2 IDH1 HRAS
39 leukemia, chronic lymphocytic 31.6 TP53 PTPN11 PTEN NRAS MIR221 MIR21
40 prostate cancer 31.6 TP53 PTEN PIK3CA MTOR MSH2 MIR222
41 rhabdomyosarcoma 31.6 TP53 PTPN11 PTEN PMS2 MTOR MSH2
42 sarcoma 31.6 TP53 PIK3CA NRAS MTOR MSH2 HRAS
43 tuberous sclerosis 31.6 TP53 PTEN PIK3CA MTOR
44 central nervous system cancer 31.6 TP53 PTEN MIR222 MIR21 MIR182 IDH1
45 nervous system cancer 31.6 TP53 PTEN MIR222 MIR21 MIR182 IDH1
46 thyroid carcinoma 31.6 TP53 PTEN PIK3CA NRAS HRAS BRAF
47 muir-torre syndrome 31.6 TP53 PMS2 MSH2
48 melanoma, cutaneous malignant 1 31.6 TP53 PTEN PMS2 PIK3CA NRAS MSH2
49 diffuse large b-cell lymphoma 31.6 TP53 PTEN MTOR MIR222 MIR221 MIR21
50 gemistocytic astrocytoma 31.5 TP53 PTEN IDH1

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



Diseases related to Glioma Susceptibility 1

Symptoms & Phenotypes for Glioma Susceptibility 1

Human phenotypes related to Glioma Susceptibility 1:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 glioblastoma multiforme 31 obligate (100%) HP:0012174
2 abnormal cell morphology 31 hallmark (90%) HP:0025461
3 muscle weakness 31 frequent (33%) HP:0001324
4 fatigue 31 frequent (33%) HP:0012378
5 visual loss 31 frequent (33%) HP:0000572
6 paralysis 31 frequent (33%) HP:0003470
7 headache 31 frequent (33%) HP:0002315
8 cerebral edema 31 frequent (33%) HP:0002181
9 language impairment 31 frequent (33%) HP:0002463
10 abnormal corpus callosum morphology 31 frequent (33%) HP:0001273
11 mood changes 31 frequent (33%) HP:0001575
12 seizures 31 occasional (7.5%) HP:0001250
13 memory impairment 31 occasional (7.5%) HP:0002354
14 astrocytoma 31 HP:0009592
15 ependymoma 31 HP:0002888

Symptoms via clinical synopsis from OMIM:

56
Neoplasia:
glioblastoma multiforme
astrocytomas
oligodendrogliomas
ependymomas
subependymomas

Clinical features from OMIM:

137800

UMLS symptoms related to Glioma Susceptibility 1:


seizures, headache

GenomeRNAi Phenotypes related to Glioma Susceptibility 1 according to GeneCards Suite gene sharing:

26 (show all 48)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.89 BRAF EGFR MTOR PIK3CA HRAS
2 Decreased viability GR00221-A-1 10.89 EGFR MTOR PIK3CA FGFR1 HRAS NRAS
3 Decreased viability GR00221-A-2 10.89 PIK3CA FGFR1 HRAS
4 Decreased viability GR00221-A-3 10.89 ERBB2 HRAS NRAS
5 Decreased viability GR00221-A-4 10.89 BRAF EGFR ERBB2 MTOR PIK3CA
6 Decreased viability GR00301-A 10.89 BRAF
7 Decreased viability GR00342-S-1 10.89 MTOR
8 Decreased viability GR00342-S-2 10.89 MTOR
9 Decreased viability GR00381-A-1 10.89 BRAF
10 Decreased viability GR00402-S-2 10.89 BRAF EGFR ERBB2 MTOR PIK3CA FGFR1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-100 10.21 FGFR1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-110 10.21 BRAF
13 Increased shRNA abundance (Z-score > 2) GR00366-A-118 10.21 PTPN11
14 Increased shRNA abundance (Z-score > 2) GR00366-A-121 10.21 PTPN11
15 Increased shRNA abundance (Z-score > 2) GR00366-A-125 10.21 FGFR1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-126 10.21 FGFR1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-127 10.21 IDH1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-136 10.21 IDH1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-138 10.21 IDH1 PTPN11
20 Increased shRNA abundance (Z-score > 2) GR00366-A-147 10.21 IDH1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.21 BRAF PTPN11
22 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.21 BRAF
23 Increased shRNA abundance (Z-score > 2) GR00366-A-169 10.21 FGFR1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.21 BRAF
25 Increased shRNA abundance (Z-score > 2) GR00366-A-178 10.21 PTPN11
26 Increased shRNA abundance (Z-score > 2) GR00366-A-183 10.21 FGFR1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-190 10.21 PTPN11
28 Increased shRNA abundance (Z-score > 2) GR00366-A-194 10.21 BRAF
29 Increased shRNA abundance (Z-score > 2) GR00366-A-26 10.21 FGFR1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-29 10.21 BRAF
31 Increased shRNA abundance (Z-score > 2) GR00366-A-31 10.21 BRAF
32 Increased shRNA abundance (Z-score > 2) GR00366-A-32 10.21 BRAF
33 Increased shRNA abundance (Z-score > 2) GR00366-A-37 10.21 PTPN11
34 Increased shRNA abundance (Z-score > 2) GR00366-A-39 10.21 IDH1
35 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.21 FGFR1
36 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10.21 BRAF FGFR1 IDH1 PTPN11
37 Increased shRNA abundance (Z-score > 2) GR00366-A-50 10.21 FGFR1
38 Increased shRNA abundance (Z-score > 2) GR00366-A-7 10.21 PTPN11
39 Increased shRNA abundance (Z-score > 2) GR00366-A-73 10.21 FGFR1
40 Increased shRNA abundance (Z-score > 2) GR00366-A-78 10.21 PTPN11
41 Increased shRNA abundance (Z-score > 2) GR00366-A-83 10.21 FGFR1
42 Decreased viability with paclitaxel GR00179-A-1 10 EGFR MTOR ERBB2
43 Decreased viability with paclitaxel GR00179-A-2 10 MTOR
44 Decreased viability with paclitaxel GR00179-A-3 10 EGFR MTOR
45 Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance GR00210-A 9.91 EGFR ERBB2 HRAS MTOR NRAS PTEN
46 Decreased cell migration GR00055-A-1 9.8 BRAF EGFR HRAS MTOR PIK3CA
47 Increased cell migration GR00055-A-3 9.55 BRAF EGFR HRAS MTOR PIK3CA
48 Reduced mammosphere formation GR00396-S 9.17 BRAF EGFR HRAS MTOR NRAS PTEN

MGI Mouse Phenotypes related to Glioma Susceptibility 1:

45 (show all 22)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.4 BCOR BRAF EGFR ERBB2 FGFR1 MSH2
2 cardiovascular system MP:0005385 10.38 BCOR BRAF EGFR ERBB2 FGFR1 HRAS
3 homeostasis/metabolism MP:0005376 10.37 BRAF EGFR ERBB2 FGFR1 HRAS IDH1
4 growth/size/body region MP:0005378 10.36 BCOR BRAF EGFR ERBB2 FGFR1 HRAS
5 endocrine/exocrine gland MP:0005379 10.34 BRAF EGFR ERBB2 FGFR1 HRAS MTOR
6 mortality/aging MP:0010768 10.33 BCOR BRAF EGFR ERBB2 FGFR1 HRAS
7 digestive/alimentary MP:0005381 10.32 BRAF EGFR ERBB2 FGFR1 HRAS MSH2
8 immune system MP:0005387 10.32 BCOR BRAF EGFR FGFR1 IDH1 MSH2
9 embryo MP:0005380 10.31 BCOR BRAF EGFR ERBB2 FGFR1 MTOR
10 hematopoietic system MP:0005397 10.31 BCOR BRAF EGFR FGFR1 IDH1 MSH2
11 integument MP:0010771 10.24 BRAF EGFR ERBB2 FGFR1 HRAS MSH2
12 craniofacial MP:0005382 10.19 BRAF EGFR ERBB2 FGFR1 HRAS NRAS
13 adipose tissue MP:0005375 10.15 BRAF EGFR MTOR PIK3CA PTEN PTPN11
14 nervous system MP:0003631 10.15 BCOR BRAF EGFR ERBB2 FGFR1 HRAS
15 neoplasm MP:0002006 10.14 BRAF EGFR ERBB2 HRAS MSH2 NRAS
16 muscle MP:0005369 10.09 BRAF EGFR ERBB2 FGFR1 MTOR PIK3CA
17 limbs/digits/tail MP:0005371 10.08 BRAF EGFR ERBB2 FGFR1 NRAS PTEN
18 normal MP:0002873 9.96 BRAF EGFR ERBB2 FGFR1 HRAS MTOR
19 no phenotypic analysis MP:0003012 9.92 EGFR FGFR1 HRAS MTOR NRAS PIK3CA
20 pigmentation MP:0001186 9.63 BRAF EGFR NRAS PTEN PTPN11 TP53
21 respiratory system MP:0005388 9.61 BRAF EGFR ERBB2 HRAS IDH1 MTOR
22 skeleton MP:0005390 9.4 BRAF EGFR ERBB2 FGFR1 HRAS IDH1

Drugs & Therapeutics for Glioma Susceptibility 1

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

(show top 50) (show all 704)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
2
Trametinib Approved Phase 4 871700-17-3 11707110
3
Dabrafenib Approved, Investigational Phase 4 1195765-45-7 44462760 44516822
4
tannic acid Approved Phase 4 1401-55-4
5
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
6
Glutamic acid Approved, Nutraceutical Phase 4 56-86-0 33032
7
Lactitol Investigational Phase 4 585-88-6, 585-86-4 493591
8 Anticonvulsants Phase 4
9 Central Nervous System Depressants Phase 4
10 Anesthetics Phase 4
11 Anti-Anxiety Agents Phase 4
12 Excitatory Amino Acid Antagonists Phase 4
13 alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid Phase 4
14
Citalopram Approved Phase 2, Phase 3 59729-33-8 2771
15
Dextroamphetamine Approved, Illicit Phase 3 51-64-9 5826
16
Tranexamic Acid Approved Phase 3 1197-18-8 5526
17
Trioxsalen Approved Phase 3 3902-71-4 5585
18
Thioguanine Approved Phase 3 154-42-7 2723601
19
Octreotide Approved, Investigational Phase 2, Phase 3 83150-76-9 6400441 383414
20
Donepezil Approved Phase 3 120014-06-4 3152
21
Dalteparin Approved Phase 3 9005-49-6
22
Heparin Approved, Investigational Phase 3 9005-49-6 772 46507594
23
Leflunomide Approved, Investigational Phase 3 75706-12-6 3899
24
Somatostatin Approved, Investigational Phase 2, Phase 3 51110-01-1, 38916-34-6 53481605
25
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
26
Cobalt Approved, Experimental Phase 3 7440-48-4 104729
27
Streptozocin Approved, Investigational Phase 2, Phase 3 18883-66-4 29327
28
Copper Approved, Investigational Phase 2, Phase 3 7440-50-8 27099
29
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
30
Gemcitabine Approved Phase 3 95058-81-4 60750
31
Docetaxel Approved, Investigational Phase 3 114977-28-5 148124
32
Bevacizumab Approved, Investigational Phase 3 216974-75-3
33
Iodine Approved, Investigational Phase 3 7553-56-2 807
34
Povidone Approved Phase 3 9003-39-8
35
Povidone-iodine Approved Phase 3 25655-41-8
36
Meloxicam Approved, Vet_approved Phase 2, Phase 3 71125-38-7 5281106 54677470
37
Flucytosine Approved, Investigational Phase 2, Phase 3 2022-85-7 3366
38
Hydroxychloroquine Approved Phase 2, Phase 3 118-42-3 3652
39
Carmustine Approved, Investigational Phase 3 154-93-8 2578
40
Irinotecan Approved, Investigational Phase 3 100286-90-6, 97682-44-5 60838
41
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
42
Cyclophosphamide Approved, Investigational Phase 3 6055-19-2, 50-18-0 2907
43
Etoposide Approved Phase 3 33419-42-0 36462
44
Lomustine Approved, Investigational Phase 3 13010-47-4 3950
45
Vincristine Approved, Investigational Phase 3 57-22-7, 2068-78-2 5978
46
Histamine Approved, Investigational Phase 3 51-45-6 774
47
Cyproheptadine Approved Phase 3 129-03-3 2913
48
Methotrexate Approved Phase 3 59-05-2, 1959-05-2 126941
49
leucovorin Approved Phase 3 58-05-9 6006 143
50
Dopamine Approved Phase 3 51-61-6, 62-31-7 681

Interventional clinical trials:

(show top 50) (show all 2326)
# 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 Phase II Feasibility Study to Evaluate the Efficacy and Safety of Perampanel in Seizure Patients With Primary Glial Brain Tumors Completed NCT02363933 Phase 4 Perampanel
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 Assessment of Optune Therapy for Patients With Newly Diagnosed Glioblastoma Using Advanced MRI Recruiting NCT03297125 Phase 4
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 Long-term Follow-up Study to Monitor the Growth and Development of Pediatric Patients Previously Treated With Everolimus in Study CRAD001M2301 Active, not recruiting NCT02338609 Phase 4 Everolimus;Envirolimus drug class as prescribed by Physician
8 An Open Label, Multi-center Roll-over Study to Assess Long-term Effect in Pediatric Patients Treated With Tafinlar (Dabrafenib) and/or Mekinist (Trametinib) Not yet recruiting NCT03975829 Phase 4 dabrafenib;trametinib
9 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
10 A Prospective, Non-randomized, Concurrent Control, Open Label, Post-approval Study of NovoTTF-100A in Recurrent GBM Patient Terminated NCT01756729 Phase 4
11 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
12 Phase II Prospective Study of Sequential Myeloablative Chemotherapy With Stem Cell Rescue for the Treatment of Selected High Risk CNS Tumors and Recurrent CNS Tumors Unknown status NCT00179803 Phase 2, Phase 3
13 Phase 3 Study of Carmustine Sustained Release Implant (CASANT) to Treat Newly Diagnosed Malignant Glioma Unknown status NCT01656980 Phase 3 Carmustine
14 Ultimate Low Grade Glioma Study Unknown status NCT00003015 Phase 3 carboplatin;vincristine sulfate
15 Impact of Surgery on the Treatment of Supratentorial Malignant Gliomas in Subjects Aged 70 and Over Unknown status NCT02892708 Phase 3
16 Dose Intensive Chemotherapy for Children Less Than Ten Years of Age Newly-Diagnosed With Malignant Brain Tumors: A Pilot Study of Two Alternative Intensive Induction Chemotherapy Regimens, Followed by Consolidation With Myeloablative Chemotherapy (Thiotepa and Carboplatin, With or Without Etoposide) and Autologous Stem Cell Rescue [HEAD START III] Unknown status NCT00392886 Phase 3 carboplatin;cisplatin;cyclophosphamide;etoposide;methotrexate;temozolomide;thiotepa;vincristine sulfate
17 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
18 Prospective Clinical Trials in the Use of Photodynamic Therapy (PDT) for the Treatment of Malignant Supratentorial Brain Tumors Unknown status NCT00003788 Phase 3 carmustine;lomustine;porfimer sodium;procarbazine hydrochloride
19 Angiotensin II Receptor Blockers, Steroids and Radiotherapy in Glioblastoma- A Randomized Multicenter Trial Unknown status NCT01805453 Phase 3 Losartan;Placebo
20 Cognitive Rehabilitation of Glioma Patients: a Prospective, Randomized Study Unknown status NCT00256425 Phase 3
21 Prospective Randomized Trial of Two Hypofractionated Radiotherapy Regimens Versus Conventional Radiotherapy in Pediatric Diffuse Brainstem Glioma Unknown status NCT01878266 Phase 3
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 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
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 Barrow 5-ALA Intraoperative Confocal Evaluation Trial Unknown status NCT01502280 Phase 3 5-Aminolevulinic acid (ALA);Placebo - ascorbic acid
26 Efficacy of RAD001/Everolimus in Autism and NeuroPsychological Deficits in Children With Tuberous Sclerosis Complex Unknown status NCT01730209 Phase 2, Phase 3 Everolimus;Placebo
27 A Prospective, Randomized, Controlled, Double-blind, Multi-center Clinical Study of Nimotuzumab Combinated With Gemcitabine Contrast to Placebo Combinated With Gemcitabine in K-RAS Wild-type,Locally Advanced and Metastatic Pancreatic Cancer Unknown status NCT02395016 Phase 3 nimotuzumab;Gemcitabine
28 PHASE 3 STUDY OF EFFICACY OF TRANEXAMIC ACID IN BRAIN TUMORS RESECTIONS Unknown status NCT01655927 Phase 3 Tranexamic Acid;Placebo: Saline
29 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
30 A Prospective,Randomized,Double-Blind,Controlled,Multicenter,Phase III Study of Nimotuzumab in Combination With Chemotherapy and Radiotherapy for Patients With Local Advanced Nasopharyngeal Cancer Unknown status NCT01074021 Phase 3 Nimotuzumab;placebo plus chemoradiotherapy
31 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
32 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
33 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)
34 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
35 Randomized Study of Normal-fractionated Radiotherapy Versus Hypofractionated Radiotherapy Versus Chemotherapy in Patients Over 60 Years With Malignant Glioma Completed NCT00820963 Phase 3 temozolomide
36 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)
37 Randomized Phase 3 Open Label Study - Enzastaurin vs. Lomustine in Glioblastoma Completed NCT00295815 Phase 3 enzastaurin;lomustine
38 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
39 Phase III Double Blind, Placebo Controlled Study of Donepezil in the Irradiated Brain Completed NCT00369785 Phase 3 donepezil hydrochloride;Placebo
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 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
42 A Phase III Randomized Trial for the Treatment of Pediatric High Grade Gliomas at First Recurrence With a Single High Dose Chemotherapy and Autologous Stem Cell Transplant Versus Three Courses of Intermediate Dose Chemotherapy With Peripheral Blood Stem Cell (PBSC) Support Completed NCT00078988 Phase 3 carboplatin;etoposide;isotretinoin;thiotepa
43 A Randomized Phase II/III Study of Vorinostat and Local Irradiation OR Temozolomide and Local Irradiation OR Bevacizumab and Local Irradiation Followed by Maintenance Bevacizumab and Temozolomide in Children With Newly Diagnosed High-Grade Gliomas Completed NCT01236560 Phase 2, Phase 3 Temozolomide;Vorinostat
44 A Phase III Randomized Study of SU101 Versus Procarbazine for Patients With Glioblastoma Multiforme in First Relapse Completed NCT00003293 Phase 3 leflunomide;procarbazine hydrochloride
45 Concomitant and Adjuvant Temozolomide and Radiotherapy for Newly Diagnosed Glioblastoma Multiforme - A Randomized Phase III Study Completed NCT00006353 Phase 3 temozolomide
46 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
47 Chloroquine as Adjuvant to the Treatment of Glioblastoma Multiforme, A Randomized Trial Completed NCT00224978 Phase 3 Chloroquine
48 A Phase II Study of Observation in Favorable Low-Grade Glioma and a Phase II Study of Radiation With or Without PCV Chemotherapy in Unfavorable Low-Grade Glioma Completed NCT00003375 Phase 2, Phase 3 lomustine;procarbazine hydrochloride;vincristine sulfate
49 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
50 Randomized Controlled Trial of Acupressure to Control Chemotherapy-Induced Nausea (CIN) in Children Receiving Highly Emetogenic Chemotherapy Completed NCT01346267 Phase 3

Search NIH Clinical Center for Glioma Susceptibility 1

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


Carmustine
Cisplatin
CISPLATIN PWDR
temozolomide

Genetic Tests for Glioma Susceptibility 1

Genetic tests related to Glioma Susceptibility 1:

# Genetic test Affiliating Genes
1 Glioma Susceptibility 1 29 ERBB2 IDH1
2 Glioma, Susceptibility to, Somatic 29

Anatomical Context for Glioma Susceptibility 1

MalaCards organs/tissues related to Glioma Susceptibility 1:

40
Brain, T Cells, Endothelial, Lung, Breast, Testes, Spinal Cord

Publications for Glioma Susceptibility 1

Articles related to Glioma Susceptibility 1:

(show top 50) (show all 1937)
# Title Authors PMID Year
1
Germline p53 gene mutations in subsets of glioma patients. 56 6
8308926 1994
2
IDH1 and IDH2 mutations in gliomas. 54 56
19228619 2009
3
TP53 codon 72 polymorphism is associated with age at onset of glioblastoma. 54 56
19171829 2009
4
Molecular determinants of the response of glioblastomas to EGFR kinase inhibitors. 56 54
16282176 2005
5
MGMT gene silencing and benefit from temozolomide in glioblastoma. 54 56
15758010 2005
6
Clinical trial substantiates the predictive value of O-6-methylguanine-DNA methyltransferase promoter methylation in glioblastoma patients treated with temozolomide. 56 54
15041700 2004
7
Nf1;Trp53 mutant mice develop glioblastoma with evidence of strain-specific effects. 56 54
10973261 2000
8
Diversity and frequency of epidermal growth factor receptor mutations in human glioblastomas. 56 54
10728703 2000
9
A novel gene, LGI1, from 10q24 is rearranged and downregulated in malignant brain tumors. 56 54
9879993 1998
10
Control of glioblastoma tumorigenesis by feed-forward cytokine signaling. 56
27110918 2016
11
Insulator dysfunction and oncogene activation in IDH mutant gliomas. 56
26700815 2016
12
Glioma Groups Based on 1p/19q, IDH, and TERT Promoter Mutations in Tumors. 56
26061753 2015
13
Comprehensive, Integrative Genomic Analysis of Diffuse Lower-Grade Gliomas. 56
26061751 2015
14
SHMT2 drives glioma cell survival in ischaemia but imposes a dependence on glycine clearance. 56
25855294 2015
15
Use of human embryonic stem cells to model pediatric gliomas with H3.3K27M histone mutation. 56
25525250 2014
16
C11orf95-RELA fusions drive oncogenic NF-κB signalling in ependymoma. 56
24553141 2014
17
Epigenomic alterations define lethal CIMP-positive ependymomas of infancy. 56
24553142 2014
18
The integrated landscape of driver genomic alterations in glioblastoma. 56
23917401 2013
19
Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma. 56
23817572 2013
20
Inhibition of PRC2 activity by a gain-of-function H3 mutation found in pediatric glioblastoma. 56
23539183 2013
21
Transforming fusions of FGFR and TACC genes in human glioblastoma. 56
22837387 2012
22
Passenger deletions generate therapeutic vulnerabilities in cancer. 56
22895339 2012
23
Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma. 56
22286061 2012
24
Somatic histone H3 alterations in pediatric diffuse intrinsic pontine gliomas and non-brainstem glioblastomas. 56
22286216 2012
25
NCCN Task Force report: Evaluating the clinical utility of tumor markers in oncology. 6
22138009 2011
26
Mutations in CIC and FUBP1 contribute to human oligodendroglioma. 56
21817013 2011
27
IDH1 R132H decreases proliferation of glioma cell lines in vitro and in vivo. 56
21446021 2011
28
NFKBIA deletion in glioblastomas. 56
21175304 2011
29
Glioblastoma stem-like cells give rise to tumour endothelium. 56
21102433 2010
30
Tumour vascularization via endothelial differentiation of glioblastoma stem-like cells. 56
21102434 2010
31
Cross-species genomics matches driver mutations and cell compartments to model ependymoma. 56
20639864 2010
32
All the 1p19q codeleted gliomas are mutated on IDH1 or IDH2. 56
20427748 2010
33
A genome-wide RNA interference screen reveals an essential CREB3L2-ATF5-MCL1 survival pathway in malignant glioma with therapeutic implications. 56
20495567 2010
34
Inherited predisposition to glioma. 56
20150373 2010
35
The transcriptional network for mesenchymal transformation of brain tumours. 56
20032975 2010
36
IDH1 mutations in low-grade astrocytomas predict survival but not response to temozolomide. 56
19933982 2009
37
Alterations of BRAF and HIPK2 loci predominate in sporadic pilocytic astrocytoma. 56
19794125 2009
38
MicroRNA-34a inhibits glioblastoma growth by targeting multiple oncogenes. 54 46
19773441 2009
39
IDH1 and IDH2 mutations in gliomas. 56
19458374 2009
40
Comprehensive genomic characterization defines human glioblastoma genes and core pathways. 56
18772890 2008
41
p53 and Pten control neural and glioma stem/progenitor cell renewal and differentiation. 56
18948956 2008
42
Familiality in brain tumors. 56
18809838 2008
43
An integrated genomic analysis of human glioblastoma multiforme. 56
18772396 2008
44
Small interfering RNA-mediated xCT silencing in gliomas inhibits neurodegeneration and alleviates brain edema. 56
18469825 2008
45
BRAF gene duplication constitutes a mechanism of MAPK pathway activation in low-grade astrocytomas. 56
18398503 2008
46
Regulation of p27Kip1 by miRNA 221/222 in glioblastoma. 54 46
17721077 2007
47
Bone morphogenetic proteins inhibit the tumorigenic potential of human brain tumour-initiating cells. 56
17151667 2006
48
Glioma stem cells promote radioresistance by preferential activation of the DNA damage response. 56
17051156 2006
49
Gene expression profiling reveals molecularly and clinically distinct subtypes of glioblastoma multiforme. 56
15827123 2005
50
Radiotherapy plus concomitant and adjuvant temozolomide for glioblastoma. 56
15758009 2005

Variations for Glioma Susceptibility 1

ClinVar genetic disease variations for Glioma Susceptibility 1:

6 (show top 50) (show all 257) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 H3-3A NM_002107.6(H3-3A):c.103G>A (p.Gly35Arg)SNV other 438766 rs1553260624 1:226252155-226252155 1:226064454-226064454
2 MED12 NM_005120.3(MED12):c.5980C>T (p.Arg1994Trp)SNV other 438772 rs1556339256 X:70357729-70357729 X:71137879-71137879
3 MSH2 NM_000251.2(MSH2):c.1958_1965del (p.Asn653fs)deletion Pathogenic 590849 rs1558518449 2:47702362-47702369 2:47475223-47475230
4 TP53 NM_000546.5(TP53):c.712T>C (p.Cys238Arg)SNV Pathogenic 376576 rs1057519981 17:7577569-7577569 17:7674251-7674251
5 TP53 NM_000546.5(TP53):c.713G>T (p.Cys238Phe)SNV Pathogenic 376574 rs730882005 17:7577568-7577568 17:7674250-7674250
6 TP53 NM_000546.5(TP53):c.841G>T (p.Asp281Tyr)SNV Pathogenic 376585 rs764146326 17:7577097-7577097 17:7673779-7673779
7 TP53 NM_000546.5(TP53):c.841G>A (p.Asp281Asn)SNV Pathogenic 376586 rs764146326 17:7577097-7577097 17:7673779-7673779
8 TP53 NM_000546.5(TP53):c.537T>G (p.His179Gln)SNV Pathogenic 376607 rs876660821 17:7578393-7578393 17:7675075-7675075
9 TP53 NM_000546.5(TP53):c.818G>T (p.Arg273Leu)SNV Pathogenic 376655 rs28934576 17:7577120-7577120 17:7673802-7673802
10 TP53 NM_000546.5(TP53):c.733G>T (p.Gly245Cys)SNV Pathogenic 12349 rs28934575 17:7577548-7577548 17:7674230-7674230
11 TP53 NM_000546.5(TP53):c.725G>A (p.Cys242Tyr)SNV Pathogenic 12354 rs121912655 17:7577556-7577556 17:7674238-7674238
12 TP53 NM_000546.5(TP53):c.734G>A (p.Gly245Asp)SNV Pathogenic 12355 rs121912656 17:7577547-7577547 17:7674229-7674229
13 PTEN NM_000314.7(PTEN):c.697C>T (p.Arg233Ter)SNV Pathogenic 7813 rs121909219 10:89717672-89717672 10:87957915-87957915
14 PTEN NM_000314.7(PTEN):c.389G>A (p.Arg130Gln)SNV Pathogenic 7829 rs121909229 10:89692905-89692905 10:87933148-87933148
15 TP53 NM_000546.5(TP53):c.733G>A (p.Gly245Ser)SNV Pathogenic 12365 rs28934575 17:7577548-7577548 17:7674230-7674230
16 TP53 NM_000546.5(TP53):c.524G>A (p.Arg175His)SNV Pathogenic 12374 rs28934578 17:7578406-7578406 17:7675088-7675088
17 TP53 NM_000546.5(TP53):c.659A>C (p.Tyr220Ser)SNV Pathogenic 12383 rs121912666 17:7578190-7578190 17:7674872-7674872
18 HRAS NM_005343.4(HRAS):c.34G>T (p.Gly12Cys)SNV Pathogenic 12613 rs104894229 11:534289-534289 11:534289-534289
19 PIK3CA NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg)SNV Pathogenic 13652 rs121913279 3:178952085-178952085 3:179234297-179234297
20 PIK3CA NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu)SNV Pathogenic 13653 rs121913279 3:178952085-178952085 3:179234297-179234297
21 ERBB2 NM_004448.3(ERBB2):c.2740G>A (p.Glu914Lys)SNV Pathogenic 13878 rs28933368 17:37881974-37881974 17:39725721-39725721
22 NRAS NM_002524.5(NRAS):c.182A>G (p.Gln61Arg)SNV Pathogenic 13900 rs11554290 1:115256529-115256529 1:114713908-114713908
23 BRAF NM_004333.6(BRAF):c.1799T>A (p.Val600Glu)SNV Pathogenic 13961 rs113488022 7:140453136-140453136 7:140753336-140753336
24 BRAF NM_004333.6(BRAF):c.1787G>T (p.Gly596Val)SNV Pathogenic 40387 rs397507483 7:140453148-140453148 7:140753348-140753348
25 EGFR NM_005228.5(EGFR):c.2156G>C (p.Gly719Ala)SNV Pathogenic 45225 rs121913428 7:55241708-55241708 7:55174015-55174015
26 PIK3CA NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg)SNV Pathogenic 45466 rs397517201 3:178936095-178936095 3:179218307-179218307
27 PMS2 NM_000535.7(PMS2):c.1831dup (p.Ile611fs)duplication Pathogenic 91317 rs63750250 7:6026565-6026565 7:5986934-5986934
28 TP53 NM_000546.5(TP53):c.659A>G (p.Tyr220Cys)SNV Pathogenic 127819 rs121912666 17:7578190-7578190 17:7674872-7674872
29 TP53 NM_000546.5(TP53):c.638G>A (p.Arg213Gln)SNV Pathogenic 135359 rs587778720 17:7578211-7578211 17:7674893-7674893
30 TP53 NM_000546.5(TP53):c.844C>G (p.Arg282Gly)SNV Pathogenic 140821 rs28934574 17:7577094-7577094 17:7673776-7673776
31 TP53 NM_000546.5(TP53):c.842A>G (p.Asp281Gly)SNV Pathogenic 141141 rs587781525 17:7577096-7577096 17:7673778-7673778
32 IDH1 NM_005896.3(IDH1):c.395G>A (p.Arg132His)SNV Pathogenic 156444 rs121913500 2:209113112-209113112 2:208248388-208248388
33 PIK3CA NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr)SNV Pathogenic 39705 rs121913281 3:178952084-178952084 3:179234296-179234296
34 PIK3CA NM_006218.4(PIK3CA):c.1634A>C (p.Glu545Ala)SNV Pathogenic 13659 rs121913274 3:178936092-178936092 3:179218304-179218304
35 PTPN11 NM_002834.4(PTPN11):c.227A>C (p.Glu76Ala)SNV Pathogenic 13339 rs121918465 12:112888211-112888211 12:112450407-112450407
36 PTPN11 NM_002834.4(PTPN11):c.227A>G (p.Glu76Gly)SNV Pathogenic 13338 rs121918465 12:112888211-112888211 12:112450407-112450407
37 PTPN11 NM_002834.4(PTPN11):c.226G>A (p.Glu76Lys)SNV Pathogenic 13336 rs121918464 12:112888210-112888210 12:112450406-112450406
38 HRAS NM_005343.4(HRAS):c.35G>C (p.Gly12Ala)SNV Pathogenic 12603 rs104894230 11:534288-534288 11:534288-534288
39 HRAS NM_005343.4(HRAS):c.34G>A (p.Gly12Ser)SNV Pathogenic 12602 rs104894229 11:534289-534289 11:534289-534289
40 TP53 NM_000546.5(TP53):c.742C>T (p.Arg248Trp)SNV Pathogenic 12347 rs121912651 17:7577539-7577539 17:7674221-7674221
41 MTOR NM_004958.4(MTOR):c.4448G>T (p.Cys1483Phe)SNV Pathogenic 190121 rs786205165 1:11217230-11217230 1:11157173-11157173
42 TP53 NM_000546.5(TP53):c.584T>C (p.Ile195Thr)SNV Pathogenic 216077 rs760043106 17:7578265-7578265 17:7674947-7674947
43 FGFR1 NM_023110.2(FGFR1):c.1638C>A (p.Asn546Lys)SNV Pathogenic 224896 rs779707422 8:38274849-38274849 8:38417331-38417331
44 NRAS NM_002524.5(NRAS):c.182A>C (p.Gln61Pro)SNV Pathogenic 280409 rs11554290 1:115256529-115256529 1:114713908-114713908
45 BCOR NM_001123383.1(BCOR):c.3779_3780AG[1] (p.Leu1262fs)short repeat Pathogenic 284290 rs886042842 X:39922288-39922289 X:40063035-40063036
46 NRAS NM_002524.5(NRAS):c.183A>T (p.Gln61His)SNV Pathogenic 373003 rs121913255 1:115256528-115256528 1:114713907-114713907
47 PTEN NM_001304718.2(PTEN):c.-363C>GSNV Pathogenic 375958 rs121909224 10:89692904-89692904 10:87933147-87933147
48 MTOR NM_004958.4(MTOR):c.6644C>A (p.Ser2215Tyr)SNV Pathogenic/Likely pathogenic 376129 rs587777894 1:11184573-11184573 1:11124516-11124516
49 PIK3CA NM_006218.4(PIK3CA):c.1624G>C (p.Glu542Gln)SNV Pathogenic/Likely pathogenic 376244 rs121913273 3:178936082-178936082 3:179218294-179218294
50 TP53 NM_000546.5(TP53):c.731G>A (p.Gly244Asp)SNV Pathogenic/Likely pathogenic 372785 rs985033810 17:7577550-7577550 17:7674232-7674232

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 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 COSM106156998 ZNF697 central nervous system,brain,glioma,astrocytoma Grade IV c.1550G>A p.G517D 1:119622793-119622793 8
10 COSM93171584 ZNF687 central nervous system,brain,glioma,astrocytoma Grade IV c.3651C>T p.T1217= 1:151291146-151291146 8
11 COSM93173649 ZNF687 central nervous system,brain,glioma,astrocytoma Grade IV c.2044T>A p.C682S 1:151288335-151288335 8
12 COSM93173639 ZNF687 central nervous system,brain,glioma,astrocytoma Grade IV c.2043G>C p.Q681H 1:151288334-151288334 8
13 COSM91851905 ZNF507 central nervous system,brain,glioma,astrocytoma Grade IV c.1517G>C p.R506T 19:32354347-32354347 8
14 COSM141790125 ZNF473 central nervous system,brain,glioma,astrocytoma Grade IV c.42C>T p.D14= 19:50039193-50039193 8
15 COSM116582422 ZMYND8 central nervous system,brain,glioma,astrocytoma Grade IV c.2176G>A p.D726N 20:47246116-47246116 8
16 COSM116576154 ZMYND8 central nervous system,brain,glioma,astrocytoma Grade IV c.2162T>G p.V721G 20:47246130-47246130 8
17 COSM143109865 ZMYM2 central nervous system,spinal cord,glioma,astrocytoma Grade IV c.1134-1G>T p.? 13:20005073-20005073 8
18 COSM85100068 ZMAT4 central nervous system,brain,glioma,astrocytoma Grade IV c.76G>A p.E26K 8:40825601-40825601 8
19 COSM149300699 ZFHX3 central nervous system,brain,glioma,astrocytoma Grade IV c.8198G>A p.R2733H 16:72794484-72794484 8
20 COSM149299313 ZFHX3 central nervous system,brain,glioma,astrocytoma Grade IV c.145C>T p.P49S 16:72960001-72960001 8
21 COSM149332069 ZFHX3 central nervous system,brain,glioma,oligodendroglioma c.2680G>A p.D894N 16:72957466-72957466 8
22 COSM149314219 ZFHX3 central nervous system,brain,glioma,astrocytoma Grade IV c.1819G>A p.E607K 16:72958327-72958327 8
23 COSM149332063 ZFHX3 central nervous system,brain,glioma,oligodendroglioma c.9154G>A p.V3052I 16:72793528-72793528 8
24 COSM149268215 ZFHX3 central nervous system,brain,glioma,oligodendroglioma c.6025T>C p.Y2009H 16:72796657-72796657 8
25 COSM149261414 ZFHX3 central nervous system,brain,glioma,oligodendroglioma c.8300G>A p.G2767E 16:72794382-72794382 8
26 COSM149332473 ZFHX3 central nervous system,brain,glioma,astrocytoma Grade IV c.4279G>A p.A1427T 16:72798403-72798403 8
27 COSM149260463 ZFHX3 central nervous system,brain,glioma,astrocytoma Grade IV c.8647A>G p.M2883V 16:72794035-72794035 8
28 COSM149318917 ZFHX3 central nervous system,brain,glioma,oligodendroglioma c.8600C>T p.S2867F 16:72794082-72794082 8
29 COSM149322400 ZFHX3 central nervous system,brain,glioma,astrocytoma Grade IV c.934G>A p.D312N 16:72959212-72959212 8
30 COSM149332483 ZFHX3 central nervous system,brain,glioma,astrocytoma Grade IV c.461G>A p.G154E 16:72959685-72959685 8
31 COSM149301326 ZFHX3 central nervous system,brain,glioma,astrocytoma Grade IV c.3607G>T p.E1203* 16:72811961-72811961 8
32 COSM149290610 ZFHX3 central nervous system,brain,glioma,oligodendroglioma c.3986G>A p.G1329E 16:72798696-72798696 8
33 COSM99901198 ZFC3H1 central nervous system,brain,glioma,astrocytoma Grade IV c.1055G>A p.S352N 12:71647774-71647774 8
34 COSM101569963 ZFAT central nervous system,brain,glioma,astrocytoma Grade IV c.1042G>A p.V348M 8:134602677-134602677 8
35 COSM95277357 ZEB1 central nervous system,brain,glioma,astrocytoma Grade IV c.1916C>T p.S639L 10:31521248-31521248 8
36 COSM103622530 ZC3H6 central nervous system,brain,glioma,astrocytoma Grade IV c.2254G>T p.G752* 2:112331172-112331172 8
37 COSM91491845 ZBTB4 central nervous system,brain,glioma,astrocytoma Grade IV c.2842C>T p.L948F 17:7462140-7462140 8
38 COSM84837968 ZBTB24 central nervous system,brain,glioma,astrocytoma Grade IV c.1886C>T p.P629L 6:109466059-109466059 8
39 COSM90915425 ZBTB21 central nervous system,brain,glioma,astrocytoma Grade IV c.997G>A p.G333S 21:41993099-41993099 8
40 COSM90305990 ZBTB16 central nervous system,brain,glioma,astrocytoma Grade IV c.413C>T p.A138V 11:114063713-114063713 8
41 COSM143644232 ZAN central nervous system,brain,glioma,astrocytoma Grade IV c.7726G>A p.D2576N 7:100792418-100792418 8
42 COSM143637592 ZAN central nervous system,brain,glioma,astrocytoma Grade IV c.5014T>A p.Y1672N 7:100767984-100767984 8
43 COSM84602556 YWHAH central nervous system,brain,glioma,astrocytoma Grade IV c.169C>T p.R57* 22:31956220-31956220 8
44 COSM84307194 YTHDC2 central nervous system,brain,glioma,astrocytoma Grade IV c.782C>T p.A261V 5:113532985-113532985 8
45 COSM152021881 YES1 central nervous system,brain,glioma,astrocytoma Grade IV c.832C>T p.R278* 18:743308-743308 8
46 COSM152022185 YES1 central nervous system,brain,glioma,astrocytoma Grade IV c.1153G>A p.A385T 18:736946-736946 8
47 COSM152022282 YES1 central nervous system,brain,glioma,oligodendroglioma c.259G>C p.A87P 18:756569-756569 8
48 COSM143036122 YAP1 central nervous system,brain,glioma,astrocytoma Grade IV c.538G>A p.A180T 11:102114360-102114360 8
49 COSM143035411 YAP1 central nervous system,brain,glioma,astrocytoma Grade IV c.1181C>T p.T394I 11:102227474-102227474 8
50 COSM143036045 YAP1 central nervous system,brain,glioma,oligodendroglioma c.1024G>A p.A342T 11:102209544-102209544 8

Copy number variations for Glioma Susceptibility 1 from CNVD:

7 (show all 37)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 13758 1 1 28000000 Copy number Glioblastoma
2 30312 1 241718157 242073207 Amplification AKT3 Glioblastoma
3 33636 1 46800000 50700000 Copy number Glioblastoma
4 40021 10 123227833 123347962 Amplification FGFR2 Glioblastoma
5 42796 10 40200000 135534747 Loss Glioblastoma
6 51519 11 127400000 130300000 Loss Glioblastoma
7 70074 12 58100000 63100000 Copy number CDK4 Glioblastoma
8 71138 12 67700000 71500000 Copy number MDM2 Glioblastoma
9 74585 13 109204184 109236915 Amplification IRS2 Glioblastoma
10 87860 14 78400000 100400000 Loss Glioblastoma
11 106844 17 1 3600000 Loss Glioblastoma
12 109487 17 26446120 26728821 Deletion NF1 Glioblastoma
13 122049 18 52000000 76117153 Loss Glioblastoma
14 132099 19 57600000 63811651 Gain Glioblastoma
15 133731 19 6900000 13900000 Copy number CDKN2D Glioblastoma
16 137039 2 136600000 209100000 Gain Glioblastoma
17 187590 4 52700000 59500000 Amplification CHIC2 Glioblastoma
18 187591 4 52700000 59500000 Amplification IGFBP7 Glioblastoma
19 187592 4 52700000 59500000 Amplification KDR Glioblastoma
20 187593 4 52700000 59500000 Amplification KIT Glioblastoma
21 187594 4 52700000 59500000 Amplification KIT Glioblastoma
22 187596 4 52700000 59500000 Amplification LNX1 Glioblastoma
23 187597 4 52700000 59500000 Amplification PDGFRA Glioblastoma
24 187598 4 52700000 59500000 Amplification PDGFRA Glioblastoma
25 187599 4 52700000 59500000 Amplification RASL11B Glioblastoma
26 187600 4 52700000 59500000 Amplification REST Glioblastoma
27 187601 4 52700000 59500000 Amplification SEC3L1 Glioblastoma
28 187602 4 52700000 59500000 Amplification USP46 Glioblastoma
29 187603 4 52700000 59500000 Amplification VEGFR2 Glioblastoma
30 187604 4 52700000 59500000 Copy number Glioblastoma
31 207847 6 161688579 163068824 Deletion PARK2 Glioblastoma
32 226025 7 54000000 58000000 Copy number EGFR Glioblastoma
33 226576 7 59600001 66100000 Gain Glioblastoma
34 250055 9 19900000 33200000 Copy number CDKN2A Glioblastoma
35 253823 9 4600000 14200000 Deletion PTPRD Glioblastoma
36 253952 9 49000000 141213431 Loss Glioblastoma
37 255680 9 8304245 10602723 Deletion PTPRD Glioblastoma

Expression for Glioma Susceptibility 1

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

Pathways for Glioma Susceptibility 1

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

(show top 50) (show all 140)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.15 TP53 PTPN11 PTEN PIK3CA NRAS MTOR
2
Show member pathways
13.93 TP53 PTEN NRAS MTOR HRAS FGFR1
3
Show member pathways
13.84 PTPN11 PIK3CA NRAS MTOR IDH1 HRAS
4
Show member pathways
13.68 TP53 PTPN11 PIK3CA NRAS MTOR HRAS
5
Show member pathways
13.67 TP53 PIK3CA NRAS MTOR MIR21 MIR182
6
Show member pathways
13.61 PTPN11 PIK3CA NRAS HRAS FGFR1 ERBB2
7
Show member pathways
13.6 TP53 PTPN11 PTEN PIK3CA NRAS MTOR
8
Show member pathways
13.53 TP53 PTEN NRAS MTOR HRAS FGFR1
9
Show member pathways
13.5 TP53 PTPN11 PIK3CA NRAS HRAS FGFR1
10
Show member pathways
13.41 PTPN11 PTEN NRAS HRAS FGFR1 ERBB2
11
Show member pathways
13.35 TP53 PTEN NRAS MTOR HRAS ERBB2
12
Show member pathways
13.27 TP53 PTPN11 PTEN PIK3CA MTOR FGFR1
13
Show member pathways
13.22 TP53 PIK3CA NRAS HRAS EGFR BRAF
14
Show member pathways
13.22 TP53 PTEN NRAS MTOR HRAS FGFR1
15
Show member pathways
13.13 TP53 PTEN PIK3CA NRAS MTOR HRAS
16
Show member pathways
13.09 TP53 PTEN PIK3CA NRAS MTOR HRAS
17
Show member pathways
13.05 TP53 PIK3CA NRAS MTOR HRAS EGFR
18
Show member pathways
13.05 PTEN PIK3CA NRAS HRAS ERBB2 EGFR
19
Show member pathways
13.05 PTPN11 PTEN PIK3CA NRAS MTOR HRAS
20
Show member pathways
13 PTEN PIK3CA NRAS MTOR HRAS FGFR1
21
Show member pathways
12.95 PIK3CA NRAS HRAS EGFR BRAF
22 12.93 TP53 NRAS HRAS FGFR1 ERBB2 EGFR
23
Show member pathways