MCID: ADL041
MIFTS: 11

Adult Spinal Cord Ependymoma

Categories: Bone diseases, Cancer diseases, Neuronal diseases

Aliases & Classifications for Adult Spinal Cord Ependymoma

MalaCards integrated aliases for Adult Spinal Cord Ependymoma:

Name: Adult Spinal Cord Ependymoma 12 6 15 71

Classifications:



External Ids:

Disease Ontology 12 DOID:7788
NCIt 49 C27399
UMLS 71 C1332215

Summaries for Adult Spinal Cord Ependymoma

MalaCards based summary : Adult Spinal Cord Ependymoma An important gene associated with Adult Spinal Cord Ependymoma is CHD6 (Chromodomain Helicase DNA Binding Protein 6). Affiliated tissues include spinal cord and bone, and related phenotype is no phenotypic analysis.

Related Diseases for Adult Spinal Cord Ependymoma

Diseases in the Spinal Cord Ependymoma family:

Adult Spinal Cord Ependymoma

Symptoms & Phenotypes for Adult Spinal Cord Ependymoma

MGI Mouse Phenotypes related to Adult Spinal Cord Ependymoma:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 no phenotypic analysis MP:0003012 8.62 CHD6 MYCN

Drugs & Therapeutics for Adult Spinal Cord Ependymoma

Search Clinical Trials , NIH Clinical Center for Adult Spinal Cord Ependymoma

Genetic Tests for Adult Spinal Cord Ependymoma

Anatomical Context for Adult Spinal Cord Ependymoma

MalaCards organs/tissues related to Adult Spinal Cord Ependymoma:

40
Spinal Cord, Bone

Publications for Adult Spinal Cord Ependymoma

Articles related to Adult Spinal Cord Ependymoma:

# Title Authors PMID Year
1
Detecting the long non‑coding RNA signature related to spinal cord ependymal tumor subtype using a genome‑wide methylome analysis approach. 61
31257484 2019

Variations for Adult Spinal Cord Ependymoma

ClinVar genetic disease variations for Adult Spinal Cord Ependymoma:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CHD6 NM_032221.5(CHD6):c.3296G>A (p.Arg1099Gln)SNV Uncertain significance 635181 rs1465002801 20:40081407-40081407 20:41452767-41452767

Expression for Adult Spinal Cord Ependymoma

Search GEO for disease gene expression data for Adult Spinal Cord Ependymoma.

Pathways for Adult Spinal Cord Ependymoma

GO Terms for Adult Spinal Cord Ependymoma

Sources for Adult Spinal Cord Ependymoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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