MDM2, MDM2 proto-oncogene, 4193

N. diseases: 702; N. variants: 30
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3280797
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P 		0.010 AlteredExpression disease BEFREE Expression analysis of these molecules was performed in both CMT2P patient and control lymphoblastoid cell lines as well as in LRSAM1 and TSG101 downregulated SH-SY5Y cells.TSG101, UBE2N, VPS28, EGFR and MDM2 levels were significantly decreased in the CMT2P patient lymphoblastoid cell line as well as in LRSAM1 downregulated cells. 30726272 2019