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: C0041234
Disease: Chagas Disease
Chagas Disease
0.010 Biomarker disease BEFREE Mixture-of-isoforms and Enrichr KEGG pathway analyses of the RNA-Seq datasets from ChD (this study) and diabetic (previous study) murine hearts identified alternative splicing (AS) in eleven genes (Arhgef10, Atp2b1, Atp2a3, Cacna1c, Itpr1, Mef2a, Mef2d, Pde2a, Plcb1, Plcb4, and Ppp1r12a) of the cGMP-PKG-Ca<sup>2+</sup> pathway in diseased hearts. 31778749 2020
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.010 AlteredExpression group BEFREE High mRNA expression levels of PLCB1, PLCB2, and PLCB3 were significantly associated with poor overall survival (OS) of all NSCLC patients and significantly associated with poor prognosis of adenocarcinoma. 31080817 2019
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.010 GeneticVariation disease BEFREE We identified a de novo variant in PLCB1, a gene involved in the hydrolysis of lipid phosphorus in milk from dairy cows, associated with lactase non-persistence, and a variant in the mitochondrial complex I gene MT-ND5 associated with amyotrophic lateral sclerosis (ALS). 30886340 2019
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.010 Biomarker group BEFREE The present study identified PLC-β1 as an important molecule that regulates β cell insulin secretion and can be considered a candidate for therapeutic intervention in diabetes mellitus.-Hwang, H.-J., Yang, Y. R., Kim, H. Y., Choi, Y., Park, K.-S., Lee, H., Ma, J. S., Yamamoto, M., Kim, J., Chae, Y. C., Choi, J. H., Cocco, L., Berggren, P.-O., Jang, H.-J., Suh, P.-G. Phospholipase Cβ1 potentiates glucose-stimulated insulin secretion. 31268747 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 Biomarker group BEFREE MiR-124 inhibited tumor cell proliferation in vitro and suppressed tumor growth in vivo by interacting with PLCB1 and regulating the Wnt/β-catenin signaling pathway. 30657554 2019
CUI: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance
0.010 Biomarker phenotype BEFREE Mice lacking PLC-β1 in β cells exhibited a marked defect in GSIS, leading to glucose intolerance. 31268747 2019
CUI: C1533568
Disease: fertility disorders
fertility disorders
0.010 Biomarker group BEFREE Here, we summarize the main studies about nuclear PI-PLCs, specifically, the imbalance of isozymes such as PI-PLCβ1 and PI-PLCζ, in cerebral, hematologic, neuromuscular, and fertility disorders. 30287524 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.010 Biomarker disease BEFREE PLCB1 and PLCB2 were revealed to have diagnostic value for HCC (0.869 and 0.836 area under the curve, respectively; both P≤0.05). 30896816 2019
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
0.010 Biomarker disease BEFREE In conclusion, our present study revealed the important role of circ-PRKCI-miR-1324-PLCB1 regulatory network in HSCR, providing a novel insight for the pathogenesis of HSCR. 29895226 2018
CUI: C1846034
Disease: Euthyroid multinodular goiter
Euthyroid multinodular goiter
0.010 GeneticVariation disease BEFREE The intronic PLCB1 InDel is the first variant found in familial multiple papilloid adenomata-type MNG and in a subset of patients with sporadic MNG. 29897006 2018
CUI: C2347761
Disease: Childhood Myelodysplastic Syndrome
Childhood Myelodysplastic Syndrome
0.010 Biomarker disease BEFREE PI-PLCβ1 is involved in cell proliferation, differentiation, and myelodysplastic syndrome (MDS) pathogenesis. 28970249 2018
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
Adult Myelodysplastic Syndrome
0.010 Biomarker disease BEFREE PI-PLCβ1 is involved in cell proliferation, differentiation, and myelodysplastic syndrome (MDS) pathogenesis. 28970249 2018
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.010 AlteredExpression disease BEFREE Here we show that recombinant expression of alpha-synuclein in human neuroblastoma cells enhances cellular levels of PLCβ1 but blunts its signaling pathway, preventing the agonist-dependent rise of cytoplasmic Ca<sup>2+</sup>. 27871937 2017
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.010 AlteredExpression disease BEFREE Here we show that recombinant expression of alpha-synuclein in human neuroblastoma cells enhances cellular levels of PLCβ1 but blunts its signaling pathway, preventing the agonist-dependent rise of cytoplasmic Ca<sup>2+</sup>. 27871937 2017
CUI: C1510472
Disease: Drug Dependence
Drug Dependence
0.010 Biomarker group BEFREE Our results, together with previous studies, suggest that PLCB1 participates in the susceptibility to drug dependence. 28860459 2017
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma
0.010 AlteredExpression disease BEFREE Here we show that recombinant expression of alpha-synuclein in human neuroblastoma cells enhances cellular levels of PLCβ1 but blunts its signaling pathway, preventing the agonist-dependent rise of cytoplasmic Ca<sup>2+</sup>. 27871937 2017
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.010 AlteredExpression disease BEFREE In GDS1962, PLCβ1 expression is the highest in nontumor brain tissue (n = 23) and is significantly higher than its expression in grade II gliomas [astrocytomas (n = 7) and oligodendrogliomas (n = 37)]. 26614510 2016
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.010 AlteredExpression disease BEFREE From TCGA data, PLCβ1 RNA-Seq signal inversely correlates with the pathological grades, and PLCβ1 expression in PN (n = 8) is of significantly higher levels than that in Mes (n = 8) subtypes of glioblastoma. 26614510 2016
CUI: C0017638
Disease: Glioma
Glioma
0.010 AlteredExpression disease BEFREE We conclude that PLCβ1 is a candidate signature gene for PN subtype HGG, and its expression inversely correlates with glioma pathological grade and is a potential prognostic factor. 26614510 2016
CUI: C0028945
Disease: oligodendroglioma
oligodendroglioma
0.010 AlteredExpression disease BEFREE In GDS1962, PLCβ1 expression is the highest in nontumor brain tissue (n = 23) and is significantly higher than its expression in grade II gliomas [astrocytomas (n = 7) and oligodendrogliomas (n = 37)]. 26614510 2016
CUI: C0037763
Disease: Spasm
Spasm
0.010 GeneticVariation phenotype BEFREE Mutations in the STXBP1 gene (MUNC18-1) were first described to cause Ohtahara syndrome (Early infantile epileptic encephalopathy, EIEE)(12-14) characterized by very early infantile epileptic encephalopathy with frequent tonic spasms and a suppression-burst pattern on electroencephalogram. 27184330 2016
CUI: C0085584
Disease: Encephalopathies
Encephalopathies
0.010 Biomarker group BEFREE PLCB1 epileptic encephalopathies; Review and expansion of the phenotypic spectrum. 26818157 2016
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.010 AlteredExpression disease BEFREE From TCGA data, PLCβ1 RNA-Seq signal inversely correlates with the pathological grades, and PLCβ1 expression in PN (n = 8) is of significantly higher levels than that in Mes (n = 8) subtypes of glioblastoma. 26614510 2016
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma
0.010 AlteredExpression disease BEFREE From TCGA data, PLCβ1 RNA-Seq signal inversely correlates with the pathological grades, and PLCβ1 expression in PN (n = 8) is of significantly higher levels than that in Mes (n = 8) subtypes of glioblastoma. 26614510 2016
Well Differentiated Oligodendroglioma
0.010 AlteredExpression disease BEFREE In GDS1962, PLCβ1 expression is the highest in nontumor brain tissue (n = 23) and is significantly higher than its expression in grade II gliomas [astrocytomas (n = 7) and oligodendrogliomas (n = 37)]. 26614510 2016