CTSB, cathepsin B, 1508

N. diseases: 304; N. variants: 17
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: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
disease Cardiovascular Diseases Disease or Syndrome 1282 440 0.020 None 1.000 2 2010 2018
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome 852 704 0.020 None 1.000 2 2014 2018
CUI: C0011847
Disease: Diabetes
Diabetes
disease Endocrine System Diseases Disease or Syndrome 2359 710 0.020 None 1.000 2 1 2008 2019
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 1189 238 0.020 None 1.000 2 2013 2019
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 394 173 0.020 None 1.000 2 2008 2012
CUI: C0015695
Disease: Fatty Liver
Fatty Liver
disease Digestive System Diseases Disease or Syndrome 875 35 0.210 None 1.000 2 2008 2018
CUI: C0015696
Disease: Fatty Liver, Alcoholic
Fatty Liver, Alcoholic
disease Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 94 6 0.200 None 1.000 2 2007 2008
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.020 None 1.000 2 2019 2019
CUI: C0022578
Disease: Keratoconus
Keratoconus
disease Eye Diseases Disease or Syndrome 269 83 0.020 None 1.000 2 2001 2006
CUI: C0028064
Disease: Niemann-Pick Diseases
Niemann-Pick Diseases
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 25 23 0.020 None 1.000 2 2012 2019
CUI: C0036323
Disease: Schistosomiasis
Schistosomiasis
disease Infections Disease or Syndrome 152 4 0.020 None 1.000 2 2005 2019
CUI: C0036690
Disease: Septicemia
Septicemia
disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 1285 141 0.020 None 1.000 2 1996 2018
CUI: C0037753
Disease: Sparganosis
Sparganosis
disease Infections Disease or Syndrome 1 0.020 None 1.000 2 2015 2017
CUI: C0040128
Disease: Thyroid Diseases
Thyroid Diseases
group Endocrine System Diseases Disease or Syndrome 230 26 0.020 None 1.000 2 1996 2002
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis
disease Digestive System Diseases Disease or Syndrome 158 108 0.020 None 1.000 2 2002 2002
CUI: C0243026
Disease: Sepsis
Sepsis
disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 1453 144 0.020 None 1.000 2 1996 2018
CUI: C0917805
Disease: Transient Cerebral Ischemia
Transient Cerebral Ischemia
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 98 9 0.020 None 1.000 2 2018 2018
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 360 194 0.020 None 1.000 2 2008 2012
CUI: C0001126
Disease: Renal tubular acidosis
Renal tubular acidosis
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 52 3 0.200 None 1.000 1 1994 1994
CUI: C0001206
Disease: Acromegaly
Acromegaly
disease Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 138 25 0.010 None 1.000 1 2017 2017
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis
disease Digestive System Diseases Disease or Syndrome 435 51 0.010 None 1.000 1 2000 2000
CUI: C0002170
Disease: Alopecia
Alopecia
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 491 375 0.010 None 1.000 1 2017 2017
CUI: C0003615
Disease: Appendicitis
Appendicitis
disease Digestive System Diseases; Infections Disease or Syndrome 83 10 0.010 None 1.000 1 2018 2018
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
disease Cardiovascular Diseases Disease or Syndrome 2006 267 0.010 None 1.000 1 2018 2018
CUI: C0004030
Disease: Aspergillosis
Aspergillosis
disease Infections Disease or Syndrome 47 2 0.010 None 1.000 1 2019 2019