medulloblastoma Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A malignant neoplasm that may be classified either as a glioma or as a primitive neuroectodermal tumor of childhood (see NEUROECTODERMAL TUMOR, PRIMITIVE). The tumor occurs most frequently in the first decade of life with the most typical location being the cerebellar vermis. Histologic features include a high degree of cellularity, frequent mitotic figures, and a tendency for the cells to organize into sheets or form rosettes. Medulloblastoma have a high propensity to spread throughout the craniospinal intradural axis. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2060-1)|A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, desmoplastic medulloblastoma, large cell medulloblastoma, and medulloblastoma with extensive nodularity and advanced neuronal differentiation. (from NCI Thesuarus) (Experimental Factor Ontology, EFO_0002939)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002885
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Genes

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

Symbol Name
APC adenomatous polyposis coli
DICER1 dicer 1, ribonuclease type III
MLH1 mutL homolog 1
MSH2 mutS homolog 2
MSH6 mutS homolog 6
NBN nibrin
PALB2 partner and localizer of BRCA2
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
PTCH1 patched 1
PTCH2 patched 2
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SUFU suppressor of fused homolog (Drosophila)