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: C0037753
Disease: Sparganosis
Sparganosis 		disease Infections Disease or Syndrome 1 0.020 None 1.000 2 2015 2017
CUI: C0406756
Disease: Keratolytic winter erythema
Keratolytic winter erythema 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome; Congenital Abnormality 2 0.520 None 1.000 2 2012 2017
CUI: C0599458
Disease: glycosphingolipidoses
glycosphingolipidoses 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 2 0.010 None 1.000 1 2000 2000
CUI: C4505386
Disease: Giardia duodenalis Infection
Giardia duodenalis Infection 		disease Digestive System Diseases; Infections Disease or Syndrome 2 0.010 None 1.000 1 2017 2017
CUI: C0546127
Disease: Mercury Poisoning, Nervous System
Mercury Poisoning, Nervous System 		disease Nervous System Diseases; Chemically-Induced Disorders Injury or Poisoning 3 0.200 None 1.000 1 2008 2008
CUI: C1827192
Disease: Allergic fungal sinusitis
Allergic fungal sinusitis 		disease Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 3 0.010 None 1.000 1 2007 2007
CUI: C4727687
Disease: Advanced Laryngeal Squamous Cell Carcinoma
Advanced Laryngeal Squamous Cell Carcinoma 		disease Neoplastic Process 8 1 0.010 None 1.000 1 1995 1995
CUI: C3899281
Disease: Early Inflammatory Arthritis
Early Inflammatory Arthritis 		disease Musculoskeletal Diseases Disease or Syndrome 10 0.010 None 1.000 1 1999 1999
CUI: C1274743
Disease: Hyperhidrosis Palmaris Et Plantaris
Hyperhidrosis Palmaris Et Plantaris 		disease Skin and Connective Tissue Diseases Disease or Syndrome 10 0.100 None 0
CUI: C0349515
Disease: Amelanotic Skin Melanoma
Amelanotic Skin Melanoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 13 0.010 None 1.000 1 1989 1989
CUI: C0009021
Disease: Clonorchiasis
Clonorchiasis 		disease Infections Disease or Syndrome 15 0.020 None 1.000 2 2011 2015
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 16 31 0.010 None 1.000 1 2018 2018
CUI: C0029928
Disease: Ovarian Diseases
Ovarian Diseases 		group Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 17 5 0.010 None 1.000 1 2004 2004
CUI: C0025221
Disease: Meleda Disease
Meleda Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome; Congenital Abnormality 18 15 0.010 None 1.000 1 2012 2012
CUI: C0241157
Disease: pustule
pustule 		phenotype Skin and Connective Tissue Diseases Finding 18 0.100 None 0
CUI: C0206735
Disease: Melanoma, Amelanotic
Melanoma, Amelanotic 		disease Neoplasms Neoplastic Process 19 2 0.010 None 1.000 1 1989 1989
CUI: C0741949
Disease: Cardiovascular Pathology
Cardiovascular Pathology 		disease Disease or Syndrome 23 0.010 None 1.000 1 2018 2018
CUI: C1842402
Disease: TROPICAL CALCIFIC PANCREATITIS
TROPICAL CALCIFIC PANCREATITIS 		disease Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 24 13 0.050 None 0.800 5 3 2006 2013
CUI: C0015652
Disease: Fascioliasis
Fascioliasis 		disease Digestive System Diseases; Infections Disease or Syndrome 24 0.200 None 1.000 1 2008 2008
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: C0338437
Disease: Neurocysticercosis
Neurocysticercosis 		disease Infections; Nervous System Diseases Disease or Syndrome 34 9 0.010 None 1.000 1 2015 2015
CUI: C1833662
Disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome 34 6 0.010 None 1.000 1 2019 2019
CUI: C0221106
Disease: Alkalemia
Alkalemia 		disease Disease or Syndrome 38 0.010 None 1.000 1 2019 2019
CUI: C0265004
Disease: Dilatation of aorta
Dilatation of aorta 		phenotype Cardiovascular Diseases Disease or Syndrome 39 2 0.010 None 1.000 1 2018 2018
CUI: C0302486
Disease: Erythrophagocytosis
Erythrophagocytosis 		disease Disease or Syndrome 40 0.010 None 1.000 1 2018 2018