PLCB1, phospholipase C beta 1, 23236

N. diseases: 107; N. variants: 35
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0030193
Disease: Pain
Pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1554 196 0.300 None 1.000 1 2006 2006
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.540 None 1.000 5 2008 2019
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 182 9 0.020 None 1.000 2 2009 2012
CUI: C2713368
Disease: Hematopoetic Myelodysplasia
Hematopoetic Myelodysplasia
phenotype Hemic and Lymphatic Diseases Pathologic Function 38 0.300 None 1.000 1 2009 2009
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease Nervous System Diseases Disease or Syndrome 187 126 0.130 None 1.000 3 2010 2016
CUI: C0037769
Disease: West Syndrome
West Syndrome
disease Nervous System Diseases Disease or Syndrome 149 28 0.410 None 1.000 2 2010 2012
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12
disease Disease or Syndrome 2 6 0.600 None 1.000 1 1 2010 2010
CUI: C0270844
Disease: Tonic Seizures
Tonic Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 108 0.010 None < 0.001 1 2010 2010
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 93 39 0.010 None 1.000 1 2010 2010
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
disease Nutritional and Metabolic Diseases Disease or Syndrome 1125 591 0.010 None 1.000 1 2011 2011
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1183 839 0.300 None 1.000 1 2011 2011
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1215 339 0.030 None 1.000 3 2012 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.020 None 1.000 2 2012 2017
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1236 1451 0.410 None 1.000 2 1 2012 2015
CUI: C0027126
Disease: Myotonic Dystrophy
Myotonic Dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 155 4 0.020 None 1.000 2 2012 2017
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.320 None 1.000 2 2012 2017
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2012 2012
CUI: C4528176
Disease: High Risk Myelodysplastic Syndrome
High Risk Myelodysplastic Syndrome
disease Hemic and Lymphatic Diseases Neoplastic Process 19 0.010 None 1.000 1 2012 2012
CUI: C0014175
Disease: Endometriosis
Endometriosis
disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 1188 274 0.010 None 1.000 1 2012 2012
Migrating partial seizures in infancy
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 11 2 0.010 None 1.000 1 2012 2012
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 478 667 0.100 None 1.000 1 11 2012 2012
CUI: C0525045
Disease: Mood Disorders
Mood Disorders
group Mental Disorders Mental or Behavioral Dysfunction 580 308 0.010 None 1.000 1 2012 2012
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression
disease Mental Disorders Mental or Behavioral Dysfunction 641 225 0.310 None 1.000 1 2012 2012
CUI: C0337434
Disease: Estradiol measurement
Estradiol measurement
phenotype Laboratory Procedure 21 75 0.100 None 1.000 1 1 2013 2013
EAR, PATELLA, SHORT STATURE SYNDROME
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 78 12 0.010 None 1.000 1 2013 2013