MCID: GLM040
MIFTS: 32

Glioma Susceptibility 1 malady

Genetic diseases (common) category

Aliases & Classifications for Glioma Susceptibility 1

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Glioma Susceptibility 1, Aliases & Descriptions:

Name: Glioma Susceptibility 1 45 22 60
Glioblastoma, Somatic 45 10
 
Glioma Somatic 45


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


External Ids:

OMIM45 137800

Summaries for Glioma Susceptibility 1

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OMIM:45 Gliomas are central nervous system neoplasms derived from glial cells and comprise astrocytomas, glioblastoma... (137800) more...

MalaCards based summary: Glioma Susceptibility 1, also known as glioblastoma, somatic, is related to glioblastoma and neuroblastoma, and has symptoms including autosomal dominant inheritance, somatic mutation and ependymoma. An important gene associated with Glioma Susceptibility 1 is TP53 (tumor protein p53), and among its related pathways are Development HGF signaling pathway and Integrated Pancreatic Cancer Pathway. The compounds taxane and radicicol have been mentioned in the context of this disorder. Affiliated tissues include brain and spinal cord.

Related Diseases for Glioma Susceptibility 1

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



Diseases related to glioma susceptibility 1

Symptoms for Glioma Susceptibility 1

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Symptoms by clinical synopsis from OMIM:

137800

Clinical features from OMIM:

137800

HPO human phenotypes related to Glioma Susceptibility 1:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 somatic mutation HP:0001428
3 ependymoma HP:0002888
4 glioblastoma multiforme HP:0012174
5 glioblastoma HP:0100843

Drugs & Therapeutics for Glioma Susceptibility 1

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Drug clinical trials:

Search ClinicalTrials for Glioma Susceptibility 1

Search NIH Clinical Center for Glioma Susceptibility 1

Genetic Tests for Glioma Susceptibility 1

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Genetic tests related to Glioma Susceptibility 1:

id Genetic test Affiliating Genes
1 Glioma Susceptibility 122

Anatomical Context for Glioma Susceptibility 1

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MalaCards organs/tissues related to Glioma Susceptibility 1:

31
Brain, Spinal cord

Animal Models for Glioma Susceptibility 1 or affiliated genes

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Publications for Glioma Susceptibility 1

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Variations for Glioma Susceptibility 1

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Clinvar genetic disease variations for Glioma Susceptibility 1:

6
id Gene Variation Type Significance SNP ID Assembly Location
1ERBB2NM_001005862.2(ERBB2): c.2650G> A (p.Glu884Lys)single nucleotide variantPathogenicrs28933368GRCh37Chr 17, 37881974: 37881974
2TP53NM_000546.5(TP53): c.542G> T (p.Arg181Leu)single nucleotide variantrisk factorrs397514495GRCh37Chr 17, 7578388: 7578388

Expression for genes affiliated with Glioma Susceptibility 1

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

Pathways for genes affiliated with Glioma Susceptibility 1

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

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Development EGFR signaling via PIP358
Development PDGF signaling via MAPK cascades58
Apoptosis and survival Anti apoptotic action of membrane bound ESR158
Signaling of Hepatocyte Growth Factor Receptor36
Development EGFR signaling via small GTPases58
Development Neurotrophin family signaling58
Apoptosis and survival NGF signaling pathway58
Apoptosis and survival Role of CDK5 in neuronal death and survival58
9.0ERBB2, TP53
29.0ERBB2, TP53
39.0TP53, ERBB2
49.0ERBB2, TP53
5
Show member pathways
9.0ERBB2, TP53
69.0ERBB2, TP53
7
Show member pathways
Signaling Pathways in Glioblastoma36
9.0ERBB2, TP53
8
Show member pathways
DNA damage response (only ATM dependent)36
Wnt Signaling Pathway and Pluripotency36
9.0TP53, ERBB2
9
Show member pathways
9.0ERBB2, TP53
109.0ERBB2, TP53
11
Show member pathways
9.0TP53, ERBB2
12
Show member pathways
ErbB receptor signaling network36
ErbB signaling pathway36
9.0ERBB2, TP53
13
Show member pathways
9.0ERBB2, TP53
14
Show member pathways
Signal transduction PTEN pathway58
9.0ERBB2, TP53
159.0ERBB2, TP53

Compounds for genes affiliated with Glioma Susceptibility 1

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

(show all 27)
idCompoundScoreTop Affiliating Genes
1taxane439.4ERBB2, TP53
2radicicol43 59 1211.4ERBB2, TP53
3suberoylanilide hydroxamic acid439.4ERBB2, TP53
4n-(4-hydroxyphenyl)retinamide439.4TP53, ERBB2
5oxaliplatin43 49 1211.4ERBB2, TP53
6flavopiridol43 1210.4ERBB2, TP53
7bortezomib43 49 1211.4TP53, ERBB2
8irinotecan43 49 1211.4ERBB2, TP53
9carboplatin43 49 1211.4ERBB2, TP53
10geldanamycin43 49 59 1212.4ERBB2, TP53
11gemcitabine43 49 1211.3TP53, ERBB2
12thymidylate439.3ERBB2, TP53
13resveratrol43 59 24 1212.3ERBB2, TP53
14adriamycin439.3TP53, ERBB2
15docetaxel43 49 59 1212.3ERBB2, TP53
16egcg439.3ERBB2, TP53
17cyclophosphamide43 49 1211.3ERBB2, TP53
18curcumin439.3TP53, ERBB2
19guanine43 24 1211.2ERBB2, TP53
205fluorouracil439.2ERBB2, TP53
21etoposide43 49 59 1212.2TP53, ERBB2
22n acetylcysteine439.1ERBB2, TP53
23tamoxifen43 49 28 1212.1ERBB2, TP53
24paclitaxel43 49 1211.0TP53, ERBB2
25paraffin439.0ERBB2, TP53
26ly294002438.9ERBB2, TP53
27doxorubicin43 49 1210.7ERBB2, TP53

GO Terms for genes affiliated with Glioma Susceptibility 1

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

idNameGO IDScoreTop Affiliating Genes
1cell proliferationGO:00082839.0ERBB2, TP53

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

idNameGO IDScoreTop Affiliating Genes
1protein heterodimerization activityGO:00469829.0ERBB2, TP53
2protein phosphatase bindingGO:00199038.7ERBB2, TP53

Products for genes affiliated with Glioma Susceptibility 1

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Glioma Susceptibility 1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet