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: C0241157
Disease: pustule
pustule 		phenotype Skin and Connective Tissue Diseases Finding 18 0.100 None 0
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		phenotype Infections; Respiratory Tract Diseases Finding 318 7 0.100 None 0
CUI: C0600298
Disease: Periodontosis
Periodontosis 		disease Stomatognathic Diseases Disease or Syndrome 12 27 0.300 None 0
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: C4021957
Disease: Recurrent cutaneous abscess formation
Recurrent cutaneous abscess formation 		phenotype Finding 6 0.100 None 0
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		disease Neoplasms Neoplastic Process 2507 257 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
CUI: C0011853
Disease: Diabetes Mellitus, Experimental
Diabetes Mellitus, Experimental 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Experimental Model of Disease 522 0.200 None 1.000 1 1978 1978
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 375 170 0.010 None 1.000 1 1986 1986
CUI: C0028754
Disease: Obesity
Obesity 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.200 None 1.000 1 1986 1986
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: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		group Nervous System Diseases Disease or Syndrome 373 95 0.010 None 1.000 1 1998 1998
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: C0034219
Disease: Alveolar pyorrhea
Alveolar pyorrhea 		disease Stomatognathic Diseases Disease or Syndrome 2 0.300 None 1.000 1 2000 2000
CUI: C0031090
Disease: Periodontal Diseases
Periodontal Diseases 		group Stomatognathic Diseases Disease or Syndrome 326 22 0.330 None 1.000 4 1999 2001
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: 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: 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: C0022593
Disease: Keratosis
Keratosis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 43 10 0.010 None 1.000 1 2003 2003
CUI: C0007786
Disease: Brain Ischemia
Brain Ischemia 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 358 5 0.200 None 1.000 1 2003 2003
CUI: C0870082
Disease: Hyperkeratosis
Hyperkeratosis 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 176 19 0.010 None 1.000 1 1 2003 2003
CUI: C2713394
Disease: Haim-Monk Syndrome
Haim-Monk Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 1 0.300 None 1.000 2 2000 2005
CUI: C0153252
Disease: Systemic candidiasis
Systemic candidiasis 		disease Infections Disease or Syndrome 73 0.010 None 1.000 1 2005 2005
CUI: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia 		disease Cardiovascular Diseases Disease or Syndrome 756 103 0.300 None 1.000 1 2005 2005
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms 		group Neoplasms; Respiratory Tract Diseases Neoplastic Process 1486 39 0.010 None 1.000 1 2005 2005