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rhabdoid tumor predisposition syndrome 2

Disease Summary
Associated Targets (1)


Explore Associated Targets
Mondo Description Any familial rhabdoid tumor in which the cause of the disease is a mutation in the SMARCA4 gene.
Uniprot Description A familial cancer syndrome predisposing to renal or extrarenal malignant rhabdoid tumors and to a variety of tumors of the central nervous system, including choroid plexus carcinoma, medulloblastoma, and central primitive neuroectodermal tumors. Rhabdoid tumors are the most aggressive and lethal malignancies occurring in early childhood.
Mondo Term and Equivalent IDs
MONDO:0013224:  rhabdoid tumor predisposition syndrome 2
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found