CTNNB1, catenin beta 1, 1499

N. diseases: 1368; N. variants: 68
Disease: Medulloblastoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.800 Biomarker disease BEFREE Although β-catenin immunostaining missed 4/6 WNT MBs, CTNNTB mutation analysis confirmed all WNT MB cases with amplifiable DNA. 31343993 2019
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.800 Biomarker disease BEFREE Molecular subgrouping was performed by IHC for β-catenin, GAB1 and YAP1; FISH for MYC amplification, and sequencing for CTNNB1, and by NanoString Assay on the same set of MBs. 31104222 2019
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.800 GeneticVariation disease BEFREE Medulloblastomas associated with APC germline pathogenic variant share the good prognosis of CTNNB1 mutated medulloblastomas. 31504825 2020