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
CUI: C3150988
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12
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
CUI: C3150988
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 		0.600 GeneticVariation disease CLINVAR
CUI: C3150988
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C3150988
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 		0.600 Biomarker disease CTD_human
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 GeneticVariation disease BEFREE Deletion of PLCB1 gene in schizophrenia-affected patients. 22507702 2012
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 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 CTD_human 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 BEFREE The most significant SNPs resided in ROR1 and PLCB1, genes known to be involved in bipolar disorder and schizophrenia, respectively. 21494683 2011
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.410 Biomarker disease HPO
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 GermlineCausalMutation disease ORPHANET Genes of early-onset epileptic encephalopathies: from genotype to phenotype. 22196487 2012
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: 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 GeneticVariation disease GWASCAT A genome-wide association study of suicidal behavior. 26079190 2015
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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.320 AlteredExpression disease BEFREE At the molecular level, we also performed both real-time PCR and immunohistochemical analyses on PI-PLCβ1 to further investigate its expression in primary breast cancers. 22076473 2012
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.320 GeneticVariation disease UNIPROT
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.320 AlteredExpression disease BEFREE Significantly high levels of PLC -β1 and -ε were seen in breast cancer tissues in comparison with normal mammary gland tissues. 28112359 2017
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression 		0.310 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: C0041696
Disease: Unipolar Depression
Unipolar Depression 		0.310 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: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.300 Biomarker disease PSYGENET The most significant SNPs resided in ROR1 and PLCB1, genes known to be involved in bipolar disorder and schizophrenia, respectively. 21494683 2011
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.300 Biomarker disease CTD_human Global gene expression analysis of rat colon cancers induced by a food-borne carcinogen, 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine. 15059925 2004
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.200 Biomarker disease MGD