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: C1855627
Disease: HAIM-MUNK SYNDROME
HAIM-MUNK SYNDROME 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 1 1 0.750 strong 1.000 8 1 2000 2020
CUI: C4551681
Disease: Periodontitis, Aggressive, 1
Periodontitis, Aggressive, 1 		disease Stomatognathic Diseases Disease or Syndrome 1 3 0.700 strong 1.000 3 3 2000 2016
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: C1283723
Disease: Deficiency of cathepsin C
Deficiency of cathepsin C 		disease Disease or Syndrome 1 0.010 None 1.000 1 2005 2005
CUI: C1855633
Disease: Congenital palmoplantar keratosis
Congenital palmoplantar keratosis 		disease Congenital Abnormality 1 0.100 None 0
CUI: C0034219
Disease: Alveolar pyorrhea
Alveolar pyorrhea 		disease Stomatognathic Diseases Disease or Syndrome 2 0.300 None 1.000 1 2000 2000
CUI: C1863184
Disease: Choroid plexus calcification
Choroid plexus calcification 		phenotype Pathologic Function 2 0.100 None 0
CUI: C3495551
Disease: Dihydropyrimidinuria
Dihydropyrimidinuria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 3 0.010 None 1.000 1 2010 2010
CUI: C1855642
Disease: Atrophy of alveolar ridges
Atrophy of alveolar ridges 		phenotype Finding 3 0.100 None 0
CUI: C4751078
Disease: Onychomatricoma
Onychomatricoma 		disease Neoplasms Neoplastic Process 4 0.010 None 1.000 1 2011 2011
CUI: C4023521
Disease: Chronic furunculosis
Chronic furunculosis 		disease Disease or Syndrome 4 0.100 None 0
CUI: C4025078
Disease: Tapering pointed ends of distal finger phalanges
Tapering pointed ends of distal finger phalanges 		disease Anatomical Abnormality 4 1 0.100 None 0
CUI: C1851828
Disease: Cigarette-paper scars
Cigarette-paper scars 		phenotype Finding 5 1 0.100 None 0
CUI: C4021957
Disease: Recurrent cutaneous abscess formation
Recurrent cutaneous abscess formation 		phenotype Finding 6 0.100 None 0
CUI: C0009677
Disease: Congenital macroglossia
Congenital macroglossia 		disease Stomatognathic Diseases Congenital Abnormality 7 0.010 None 1.000 1 2019 2019
CUI: C1328843
Disease: Autoimmune vasculitis
Autoimmune vasculitis 		disease Immune System Diseases; Cardiovascular Diseases Disease or Syndrome 7 0.010 None 1.000 1 2018 2018
CUI: C0600298
Disease: Periodontosis
Periodontosis 		disease Stomatognathic Diseases Disease or Syndrome 12 27 0.300 None 0
CUI: C1833661
Disease: PAROXYSMAL EXTREME PAIN DISORDER
PAROXYSMAL EXTREME PAIN DISORDER 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 13 9 0.010 None 1.000 1 2019 2019
CUI: C1835686
Disease: Recurrent bacterial skin infections
Recurrent bacterial skin infections 		phenotype Finding 13 1 0.100 None 0
CUI: C0017572
Disease: Gingival Recession
Gingival Recession 		disease Stomatognathic Diseases Disease or Syndrome 14 1 0.100 None 0
CUI: C0917981
Disease: Progressive Muscular Atrophy
Progressive Muscular Atrophy 		disease Nervous System Diseases Disease or Syndrome 16 1 0.010 None 1.000 1 2019 2019
CUI: C0917990
Disease: Acro-Osteolysis
Acro-Osteolysis 		disease Musculoskeletal Diseases Disease or Syndrome 16 1 0.100 None 0
CUI: C0263537
Disease: Onychogryposis
Onychogryposis 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 17 0.100 None 0
CUI: C0848771
Disease: neurological disability
neurological disability 		phenotype Sign or Symptom 18 6 0.010 None 1.000 1 2019 2019
CUI: C0241157
Disease: pustule
pustule 		phenotype Skin and Connective Tissue Diseases Finding 18 0.100 None 0