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- source_evidence_literature type ECO_0000212 NP329522.RA4JH5IIKGy2pnYT8ly_nPe9a120y7zbSxEWwXnDxR7og130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP329522.RA4JH5IIKGy2pnYT8ly_nPe9a120y7zbSxEWwXnDxR7og130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP329522.RA4JH5IIKGy2pnYT8ly_nPe9a120y7zbSxEWwXnDxR7og130_provenance.
- NP329522.RA4JH5IIKGy2pnYT8ly_nPe9a120y7zbSxEWwXnDxR7og130_assertion description "[In addition, this gene may be responsible for a new hereditary syndrome predisposing to a variety of tumors designated rhabdoid predisposition syndrome. In the present study, we analyzed a series of 53 ependymal tumors of 48 patients [4 myxopapillary ependymomas (WHO grade I), 3 subependymomas (WHO grade I), 18 ependymomas (WHO grade II), 21 anaplastic ependymomas (WHO grade III) and 2 ependymoblastomas (WHO grade IV)] for mutations and homozygous deletions in the coding region of the hSNF5/INI1 gene and for allelic loss of its flanking chromosomal regions in 39 ependymal tumors of 35 patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP329522.RA4JH5IIKGy2pnYT8ly_nPe9a120y7zbSxEWwXnDxR7og130_provenance.
- NP329522.RA4JH5IIKGy2pnYT8ly_nPe9a120y7zbSxEWwXnDxR7og130_assertion evidence source_evidence_literature NP329522.RA4JH5IIKGy2pnYT8ly_nPe9a120y7zbSxEWwXnDxR7og130_provenance.
- NP329522.RA4JH5IIKGy2pnYT8ly_nPe9a120y7zbSxEWwXnDxR7og130_assertion SIO_000772 11547953 NP329522.RA4JH5IIKGy2pnYT8ly_nPe9a120y7zbSxEWwXnDxR7og130_provenance.
- NP329522.RA4JH5IIKGy2pnYT8ly_nPe9a120y7zbSxEWwXnDxR7og130_assertion wasDerivedFrom befree-2016 NP329522.RA4JH5IIKGy2pnYT8ly_nPe9a120y7zbSxEWwXnDxR7og130_provenance.
- NP329522.RA4JH5IIKGy2pnYT8ly_nPe9a120y7zbSxEWwXnDxR7og130_assertion wasGeneratedBy ECO_0000203 NP329522.RA4JH5IIKGy2pnYT8ly_nPe9a120y7zbSxEWwXnDxR7og130_provenance.
- befree-2016 importedOn "2016-02-19" NP329522.RA4JH5IIKGy2pnYT8ly_nPe9a120y7zbSxEWwXnDxR7og130_provenance.