PLCB1, phospholipase C beta 1, 23236

N. diseases: 107; N. variants: 35
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12
0.600 Biomarker disease GENOMICS_ENGLAND Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy. 20833646 2010
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12
0.600 GeneticVariation disease CLINVAR
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12
0.600 Biomarker disease GENOMICS_ENGLAND
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12
0.600 Biomarker disease CTD_human
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.540 Biomarker disease BEFREE The phosphodiesterase enzyme phospholipase C-β1 has been reported to be reduced in postmortem tissue of schizophrenia patients. 30517689 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.540 GeneticVariation disease BEFREE Deletion of PLCB1 gene in schizophrenia-affected patients. 22507702 2012
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.540 AlteredExpression disease BEFREE Our data confirm that phospholipase C beta 1 transcript levels are decreased in the dorsolateral prefrontal cortex from subjects with schizophrenia. 21091263 2011
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.540 Biomarker disease BEFREE The most significant SNPs resided in ROR1 and PLCB1, genes known to be involved in bipolar disorder and schizophrenia, respectively. 21494683 2011
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.540 Biomarker disease MGD Phospholipase C-beta1 knockout mice exhibit endophenotypes modeling schizophrenia which are rescued by environmental enrichment and clozapine administration. 17667964 2008
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.540 Biomarker disease CTD_human Phospholipase C-beta1 knockout mice exhibit endophenotypes modeling schizophrenia which are rescued by environmental enrichment and clozapine administration. 17667964 2008
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
0.410 GeneticVariation disease GWASCAT A genome-wide association study of suicidal behavior. 26079190 2015
CUI: C0037769
Disease: West Syndrome
West Syndrome
0.410 GermlineCausalMutation disease ORPHANET Genes of early-onset epileptic encephalopathies: from genotype to phenotype. 22196487 2012
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
0.410 Biomarker disease BEFREE Literature data suggested that phosphoinositides (PI) signal transduction pathway and related molecules such as the Phosphoinositide-specific Phospholipase C (PI-PLC) enzymes, might be involved in the pathophysiology of mood disorders, including major depression. 21880371 2012
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
0.410 Biomarker disease PSYGENET By using interphase fluorescent in situ hybridization methodology, we analyzed PLCB1 gene, which codifies for the PI-PLC β1 enzyme, in paraffin embedded samples of orbito-frontal cortex of 15 patients affected with major depression and in 15 normal controls. 21880371 2012
CUI: C0037769
Disease: West Syndrome
West Syndrome
0.410 GermlineCausalMutation disease ORPHANET Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy. 20833646 2010
CUI: C0037769
Disease: West Syndrome
West Syndrome
0.410 GeneticVariation disease BEFREE In addition, a cohort of 12 consanguineous families of children with infantile spasms were analysed for linkage to the phospholipase C-β 1 gene locus. 20833646 2010
CUI: C0037769
Disease: West Syndrome
West Syndrome
0.410 Biomarker disease HPO
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME
0.380 Biomarker group BEFREE Altogether, our results could not only better explain the role of PI-PLCβ1/PKC-α signaling in erythropoiesis but also lead to a better comprehension of the lenalidomide effect on del(5q) MDS and pave the way to innovative, targeted therapies.-Poli, A., Ratti, S., Finelli, C., Mongiorgi, S., Clissa, C., Lonetti, A., Cappellini, A., Catozzi, A., Barraco, M., Suh, P.-G., Manzoli, L., McCubrey, J.A., Cocco, L., Follo, M. Y. 28970249 2018
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME
0.380 Biomarker group BEFREE In Myelodysplastic Syndromes (MDS) PI-PLCβ1 has a genetic and epigenetic relevance and it is related to MDS patients' risk of Acute Myeloid Leukemia (AML) evolution. 28106288 2017
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME
0.380 Biomarker group 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: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME
0.380 Biomarker group BEFREE Evidence on ex vivo human cancer cells from patients with myelodysplastic syndromes (MDS) confirmed these observations, suggesting the involvement of PI-PLC-β1 both in the pathogenesis of the disease and in the progression of MDS to acute myeloid leukemia. 22111715 2011
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME
0.380 AlteredExpression group BEFREE Taken together, our findings might open up new lines of investigations aiming at evaluating the role of the activation of PI-PLCβ1 signaling in the epigenetic therapy, which may also lead to the identification of innovative targets for the epigenetic therapy of high-risk MDS. 21109771 2011
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME
0.380 PosttranslationalModification group BEFREE Reduction of phosphoinositide-phospholipase C beta1 methylation predicts the responsiveness to azacitidine in high-risk MDS. 19805378 2009
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME
0.380 GeneticVariation group LHGDN Phosphoinositide-phospholipase C beta1 mono-allelic deletion is associated with myelodysplastic syndromes evolution into acute myeloid leukemia. 19114693 2009
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME
0.380 GeneticVariation group BEFREE Phosphoinositide-phospholipase C beta1 mono-allelic deletion is associated with myelodysplastic syndromes evolution into acute myeloid leukemia. 19114693 2009