astrocytoma Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A glial tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, subependymal giant cell astrocytoma, and glioblastoma.|Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation (MeSH).|Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2013-7; Holland et al., Cancer Medicine, 3d ed, p1082) (Experimental Factor Ontology, EFO_0000272)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0009592
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Genes

11 genes associated with the astrocytoma phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
APC adenomatous polyposis coli
CDKN2A cyclin-dependent kinase inhibitor 2A
ERBB2 erb-b2 receptor tyrosine kinase 2
MLH1 mutL homolog 1
MSH2 mutS homolog 2
MSH6 mutS homolog 6
NF1 neurofibromin 1
NF2 neurofibromin 2 (merlin)
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2