PLCB1, phospholipase C beta 1, 23236

N. diseases: 107; N. variants: 35
Disease: Miller Dieker syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome 		0.020 Biomarker disease BEFREE Phosphoinositide-phospholipase C (PI-PLC) beta1 can be considered a specific target for demethylating therapy in high-risk myelodysplastic syndrome (MDS) patients, as azacitidine treatment has been associated with a PI-PLCbeta1-specific promoter demethylation, and induction of PI-PLCbeta1 gene and protein expression. 22033492 2012
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome 		0.020 PosttranslationalModification disease BEFREE Reduction of phosphoinositide-phospholipase C beta1 methylation predicts the responsiveness to azacitidine in high-risk MDS. 19805378 2009