PLCE1, phospholipase C epsilon 1, 51196

N. diseases: 114; N. variants: 57
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: C1853124
Disease: NEPHROTIC SYNDROME, TYPE 3
NEPHROTIC SYNDROME, TYPE 3
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 4 10 0.710 None 1.000 3 10 2006 2010
CUI: C1408258
Disease: Kidney damage
Kidney damage
phenotype Finding 5 6 0.100 None 0 1
CUI: C0376300
Disease: Dengue Shock Syndrome
Dengue Shock Syndrome
disease Infections Disease or Syndrome 18 9 0.430 None 1.000 4 4 2011 2018
Diffuse mesangial sclerosis (disorder)
disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 22 0.160 None 1.000 6 2008 2018
CUI: C0233849
Disease: Personality Traits
Personality Traits
group Behavior and Behavior Mechanisms Finding 24 78 0.100 None 1.000 1 1 2011 2011
CUI: C1333763
Disease: Gastric Cardia Carcinoma
Gastric Cardia Carcinoma
disease Neoplastic Process 24 13 0.010 None 1.000 1 1 2013 2013
CUI: C1720824
Disease: Sudden Cardiac Arrest
Sudden Cardiac Arrest
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function 27 32 0.100 None 1.000 1 1 2011 2011
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 31 53 0.300 None 1.000 1 2010 2010
CUI: C3501848
Disease: Nephrosis, congenital
Nephrosis, congenital
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 31 9 0.010 None 1.000 1 1 2018 2018
CUI: C0280253
Disease: stage, gastric cancer
stage, gastric cancer
phenotype Neoplastic Process 34 0.010 None 1.000 1 2012 2012
Diastolic blood pressure measurement
phenotype Diagnostic Procedure 35 81 0.100 None 1.000 1 1 2011 2011
Focal Segmental Glomerulosclerosis, Not Otherwise Specified
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 42 6 0.010 None 1.000 1 2009 2009
Mitochondrial Respiratory Chain Deficiencies
disease Nutritional and Metabolic Diseases Disease or Syndrome 49 3 0.010 None 1.000 1 2011 2011
CUI: C1306620
Disease: Systolic blood pressure measurement
Systolic blood pressure measurement
phenotype Diagnostic Procedure 54 95 0.100 None 1.000 2 1 2009 2011
CUI: C0042749
Disease: Viremia
Viremia
disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 56 3 0.010 None < 0.001 1 2017 2017
body fat percentage (physical finding)
phenotype Finding 56 98 0.100 None 1.000 1 1 2019 2019
CUI: C1837352
Disease: Childhood onset
Childhood onset
phenotype Finding 56 0.100 None 0
CUI: C1333762
Disease: Gastric Cardia Adenocarcinoma
Gastric Cardia Adenocarcinoma
disease Neoplastic Process 65 11 0.040 None 1.000 4 1 2011 2014
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome; Congenital Abnormality 65 44 0.010 None 1.000 1 2011 2011
Steroid-resistant nephrotic syndrome
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 73 25 0.030 None 1.000 3 2010 2017
Steroid resistant nephrotic syndrome of childhood
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 73 19 0.030 None 1.000 3 2010 2017
CUI: C4521256
Disease: Glomerulopathy Assessment
Glomerulopathy Assessment
phenotype Diagnostic Procedure 84 0.300 limited 0
CUI: C0424621
Disease: Body Fat Distribution
Body Fat Distribution
phenotype Finding 90 119 0.100 None 1.000 1 1 2019 2019
CUI: C0014868
Disease: Esophagitis
Esophagitis
disease Digestive System Diseases Disease or Syndrome 105 7 0.010 None 1.000 1 2017 2017
CUI: C0239981
Disease: Hypoalbuminemia
Hypoalbuminemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 107 9 0.100 None 0