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 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: C0037769
Disease: West Syndrome
West Syndrome 		0.410 Biomarker disease HPO
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.320 GeneticVariation disease UNIPROT
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 HPO
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.100 Biomarker phenotype HPO
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.100 Biomarker phenotype HPO
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		0.100 Biomarker phenotype HPO
CUI: C0234533
Disease: Generalized seizures
Generalized seizures 		0.100 Biomarker disease HPO
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		0.100 Biomarker phenotype HPO
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		0.100 Biomarker phenotype HPO
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 Biomarker disease HPO
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		0.100 Biomarker phenotype HPO
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.100 GeneticVariation phenotype CLINVAR
CUI: C4023528
Disease: Abnormality of skin morphology
Abnormality of skin morphology 		0.100 Biomarker phenotype HPO
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		0.100 Biomarker phenotype HPO
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: C0338106
Disease: Adenocarcinoma of colon
Adenocarcinoma of colon 		0.010 AlteredExpression disease BEFREE Growth inhibition, enhancement of intercellular adhesion, and increased expression of carcinoembryonic antigen by overexpression of phosphoinositides-specific phospholipase C beta 1 in LS174T human colon adenocarcinoma cell line. 10081486 1998
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: 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: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.060 GeneticVariation disease LHGDN Inositide-specific phospholipase c beta1 gene deletion in the progression of myelodysplastic syndrome to acute myeloid leukemia. 15085153 2004
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.060 AlteredExpression disease LHGDN Nuclear phosphoinositide specific phospholipase C (PI-PLC)-beta 1: a central intermediary in nuclear lipid-dependent signal transduction. 16136505 2005