CTSC, cathepsin C, 1075

N. diseases: 139; N. variants: 23
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: C0154682
Disease: Lateral Sclerosis
Lateral Sclerosis 		disease Nervous System Diseases Disease or Syndrome 19 1 0.010 None 1.000 1 2019 2019
CUI: C0266052
Disease: Precocious exfoliation of primary tooth
Precocious exfoliation of primary tooth 		phenotype Stomatognathic Diseases Finding 20 0.100 None 0
CUI: C0399447
Disease: Early onset periodontitis
Early onset periodontitis 		disease Stomatognathic Diseases Disease or Syndrome 21 0.020 None 0.500 2 1999 2018
CUI: C1274103
Disease: Oncogenic osteomalacia
Oncogenic osteomalacia 		disease Neoplasms; Skin and Connective Tissue Diseases Disease or Syndrome 22 0.010 None 1.000 1 2001 2001
CUI: C0023885
Disease: Liver Abscess
Liver Abscess 		disease Digestive System Diseases; Infections Disease or Syndrome 22 1 0.100 None 0
CUI: C0232513
Disease: Premature tooth loss
Premature tooth loss 		phenotype Stomatognathic Diseases Finding 25 0.100 None 0
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 28 128 0.010 None 1.000 1 2019 2019
CUI: C1851920
Disease: Dopa-Responsive Dystonia
Dopa-Responsive Dystonia 		disease Nervous System Diseases Disease or Syndrome 28 33 0.010 None 1.000 1 1998 1998
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 29 19 0.800 strong 0.968 63 19 1998 2020
CUI: C0022596
Disease: Palmoplantar Keratosis
Palmoplantar Keratosis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 39 6 0.130 None 0.667 3 1999 2001
CUI: C0752105
Disease: Parkinsonism, Juvenile
Parkinsonism, Juvenile 		disease Nervous System Diseases Disease or Syndrome 40 2 0.010 None 1.000 1 1998 1998
CUI: C0022593
Disease: Keratosis
Keratosis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 43 10 0.010 None 1.000 1 2003 2003
CUI: C0080233
Disease: Tooth Loss
Tooth Loss 		disease Stomatognathic Diseases Acquired Abnormality 49 8 0.010 None 1.000 1 2010 2010
CUI: C4025886
Disease: Severe periodontitis
Severe periodontitis 		disease Stomatognathic Diseases Disease or Syndrome 54 12 0.420 strong 1.000 3 2000 2019
CUI: C1719495
Disease: Aggressive periodontitis, generalized
Aggressive periodontitis, generalized 		disease Stomatognathic Diseases Disease or Syndrome 56 16 0.020 None 1.000 2 2008 2012
CUI: C0037277
Disease: Skin Diseases, Genetic
Skin Diseases, Genetic 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 57 6 0.010 None 1.000 1 2001 2001
CUI: C1862863
Disease: Sparse body hair
Sparse body hair 		phenotype Finding 57 0.100 None 0
CUI: C4721411
Disease: Osteolysis
Osteolysis 		phenotype Musculoskeletal Diseases Pathologic Function 62 0.100 None 0
CUI: C4024202
Disease: Reduced number of teeth
Reduced number of teeth 		phenotype Finding 67 11 0.100 None 0
CUI: C0153252
Disease: Systemic candidiasis
Systemic candidiasis 		disease Infections Disease or Syndrome 73 0.010 None 1.000 1 2005 2005
CUI: C0750927
Disease: Apraxia, Developmental Verbal
Apraxia, Developmental Verbal 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 80 21 0.010 None 1.000 1 2016 2016
CUI: C0221260
Disease: Dystrophia unguium
Dystrophia unguium 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 81 9 0.100 None 0
CUI: C0162316
Disease: Iron deficiency anemia
Iron deficiency anemia 		disease Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 83 21 0.010 None 1.000 1 2019 2019
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 92 27 0.100 None 0
CUI: C0014072
Disease: Experimental Autoimmune Encephalomyelitis
Experimental Autoimmune Encephalomyelitis 		disease Immune System Diseases; Nervous System Diseases Experimental Model of Disease 97 0.200 None 1.000 1 1977 1977