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: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.380 Biomarker group CTD_human 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 Inositide-specific phospholipase c beta1 gene deletion in the progression of myelodysplastic syndrome to acute myeloid leukemia. 15085153 2004
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: 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: 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: C2713368
Disease: Hematopoetic Myelodysplasia
Hematopoetic Myelodysplasia 		0.300 Biomarker phenotype CTD_human Reduction of phosphoinositide-phospholipase C beta1 methylation predicts the responsiveness to azacitidine in high-risk MDS. 19805378 2009
CUI: C0030193
Disease: Pain
Pain 		0.300 Biomarker phenotype CTD_human Phospholipase Cbeta1 modulates pain sensitivity, opioid antinociception and opioid tolerance formation. 16405873 2006
CUI: C0234230
Disease: Pain, Burning
Pain, Burning 		0.300 Biomarker phenotype CTD_human Phospholipase Cbeta1 modulates pain sensitivity, opioid antinociception and opioid tolerance formation. 16405873 2006
CUI: C0234238
Disease: Ache
Ache 		0.300 Biomarker phenotype CTD_human Phospholipase Cbeta1 modulates pain sensitivity, opioid antinociception and opioid tolerance formation. 16405873 2006
CUI: C0234254
Disease: Radiating pain
Radiating pain 		0.300 Biomarker phenotype CTD_human Phospholipase Cbeta1 modulates pain sensitivity, opioid antinociception and opioid tolerance formation. 16405873 2006
CUI: C0458257
Disease: Pain, Splitting
Pain, Splitting 		0.300 Biomarker phenotype CTD_human Phospholipase Cbeta1 modulates pain sensitivity, opioid antinociception and opioid tolerance formation. 16405873 2006
CUI: C0458259
Disease: Pain, Crushing
Pain, Crushing 		0.300 Biomarker phenotype CTD_human Phospholipase Cbeta1 modulates pain sensitivity, opioid antinociception and opioid tolerance formation. 16405873 2006
CUI: C0751407
Disease: Pain, Migratory
Pain, Migratory 		0.300 Biomarker phenotype CTD_human Phospholipase Cbeta1 modulates pain sensitivity, opioid antinociception and opioid tolerance formation. 16405873 2006
CUI: C0751408
Disease: Suffering, Physical
Suffering, Physical 		0.300 Biomarker phenotype CTD_human Phospholipase Cbeta1 modulates pain sensitivity, opioid antinociception and opioid tolerance formation. 16405873 2006
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: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms 		0.300 Biomarker group 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: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.200 Biomarker disease RGD Expression of Gq alpha and PLC-beta in scar and border tissue in heart failure due to myocardial infarction. 9521338 1998
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.200 Biomarker disease MGD
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.130 Biomarker disease BEFREE This report emphasizes the role of PLCB1 haploinsufficiency in severe EE. 26818157 2016
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.130 GeneticVariation disease BEFREE Severe infantile epileptic encephalopathy due to mutations in PLCB1: expansion of the genotypic and phenotypic disease spectrum. 24684524 2014
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.130 GeneticVariation disease BEFREE We report the clinical presentation and evolution of epileptic encephalopathy in a patient, associated with a loss-of-function mutation in the phospholipase C-β 1 gene. 20833646 2010
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.130 Biomarker disease HPO