MCID: GLM043
MIFTS: 15

Glioma Susceptibility 9

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Glioma Susceptibility 9

MalaCards integrated aliases for Glioma Susceptibility 9:

Name: Glioma Susceptibility 9 57 29 6
Glm9 57 75
Glioma, Susceptibility to, Type 9 40
Glioma 9 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
incomplete penetrance
adult onset
three unrelated families have been reported (last curated september 2015)


HPO:

32
glioma susceptibility 9:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset incomplete penetrance


Classifications:



External Ids:

OMIM 57 616568
MeSH 44 D005910
SNOMED-CT via HPO 69 263681008

Summaries for Glioma Susceptibility 9

UniProtKB/Swiss-Prot : 75 Glioma 9: 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.

MalaCards based summary : Glioma Susceptibility 9, is also known as glm9. An important gene associated with Glioma Susceptibility 9 is POT1 (Protection Of Telomeres 1). Affiliated tissues include lung and kidney.

Description from OMIM: 616568

Related Diseases for Glioma Susceptibility 9

Symptoms & Phenotypes for Glioma Susceptibility 9

Symptoms via clinical synopsis from OMIM:

57
Neoplasia:
glioma, increased risk of
astrocytoma, increased risk of
oligodendrogliomas, increased risk of
increased risk of other cancers (e.g., kidney cancer, lung cancer, and leukemia)


Clinical features from OMIM:

616568

Drugs & Therapeutics for Glioma Susceptibility 9

Search Clinical Trials , NIH Clinical Center for Glioma Susceptibility 9

Genetic Tests for Glioma Susceptibility 9

Genetic tests related to Glioma Susceptibility 9:

# Genetic test Affiliating Genes
1 Glioma Susceptibility 9 29 POT1

Anatomical Context for Glioma Susceptibility 9

MalaCards organs/tissues related to Glioma Susceptibility 9:

41
Lung, Kidney

Publications for Glioma Susceptibility 9

Variations for Glioma Susceptibility 9

UniProtKB/Swiss-Prot genetic disease variations for Glioma Susceptibility 9:

75
# Symbol AA change Variation ID SNP ID
1 POT1 p.Gly95Cys VAR_075717 rs797045168

ClinVar genetic disease variations for Glioma Susceptibility 9:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 POT1 NM_015450.2(POT1): c.283G> T (p.Gly95Cys) single nucleotide variant Uncertain significance rs797045168 GRCh37 Chromosome 7, 124503667: 124503667
2 POT1 NM_015450.2(POT1): c.283G> T (p.Gly95Cys) single nucleotide variant Uncertain significance rs797045168 GRCh38 Chromosome 7, 124863613: 124863613
3 POT1 NM_015450.2(POT1): c.1348G> T (p.Glu450Ter) single nucleotide variant risk factor rs797045169 GRCh37 Chromosome 7, 124481048: 124481048
4 POT1 NM_015450.2(POT1): c.1348G> T (p.Glu450Ter) single nucleotide variant risk factor rs797045169 GRCh38 Chromosome 7, 124840994: 124840994
5 POT1 NM_015450.2(POT1): c.1851_1852delTA (p.Asp617Glufs) deletion Uncertain significance rs758673417 GRCh37 Chromosome 7, 124464069: 124464070
6 POT1 NM_015450.2(POT1): c.1851_1852delTA (p.Asp617Glufs) deletion Uncertain significance rs758673417 GRCh38 Chromosome 7, 124824015: 124824016

Expression for Glioma Susceptibility 9

Search GEO for disease gene expression data for Glioma Susceptibility 9.

Pathways for Glioma Susceptibility 9

GO Terms for Glioma Susceptibility 9

Sources for Glioma Susceptibility 9

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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