CTSK, cathepsin K, 1513

N. diseases: 221; N. variants: 36
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: C0521515
Disease: Calcific tendinitis
Calcific tendinitis 		disease Musculoskeletal Diseases; Wounds and Injuries Disease or Syndrome 3 0.010 None 1.000 1 2000 2000
CUI: C1849547
Disease: Osteolytic defects of the distal phalanges of the hand
Osteolytic defects of the distal phalanges of the hand 		phenotype Musculoskeletal Diseases Finding 4 0.100 None 0
CUI: C1333065
Disease: Lung Clear Cell Tumor
Lung Clear Cell Tumor 		disease Neoplastic Process 5 0.010 None 1.000 1 2018 2018
CUI: C2350234
Disease: Clear-Cell Sugar Tumors
Clear-Cell Sugar Tumors 		disease Neoplasms Neoplastic Process 5 0.010 None 1.000 1 2018 2018
CUI: C1849537
Disease: Persistent open anterior fontanelle
Persistent open anterior fontanelle 		phenotype Finding 5 2 0.100 None 0
CUI: C0014647
Disease: Giant Cell Epulis
Giant Cell Epulis 		disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 6 0.010 None 1.000 1 2003 2003
CUI: C0238402
Disease: Pycnodysostosis
Pycnodysostosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 7 36 0.800 None 0.979 47 36 1996 2019
CUI: C1335146
Disease: Osteogenic Neoplasm
Osteogenic Neoplasm 		disease Neoplastic Process 7 0.010 None 1.000 1 2019 2019
CUI: C4021525
Disease: Abnormal pelvis bone ossification
Abnormal pelvis bone ossification 		disease Anatomical Abnormality 7 0.100 None 0
CUI: C0038018
Disease: Spondylolysis
Spondylolysis 		disease Musculoskeletal Diseases Disease or Syndrome 9 2 0.100 None 0
CUI: C1855669
Disease: Absent frontal sinuses
Absent frontal sinuses 		phenotype Finding 9 1 0.100 None 0
CUI: C1849540
Disease: Delayed eruption of permanent teeth
Delayed eruption of permanent teeth 		phenotype Finding 10 0.100 None 0
CUI: C0162375
Disease: Granuloma, Giant Cell Reparative
Granuloma, Giant Cell Reparative 		disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 11 0.010 None 1.000 1 2003 2003
CUI: C0266050
Disease: Failure of exfoliation of primary tooth
Failure of exfoliation of primary tooth 		phenotype Disease or Syndrome 12 1 0.100 None 0
CUI: C1849538
Disease: Delayed eruption of primary teeth
Delayed eruption of primary teeth 		phenotype Finding 14 2 0.100 None 0
CUI: C0031028
Disease: Periapical Diseases
Periapical Diseases 		group Stomatognathic Diseases Disease or Syndrome 15 0.010 None 1.000 1 2016 2016
CUI: C1335975
Disease: Skull Base Chordoma
Skull Base Chordoma 		disease Neoplasms Neoplastic Process 17 1 0.010 None 1.000 1 2017 2017
CUI: C1837388
Disease: Abnormal pattern of respiration
Abnormal pattern of respiration 		phenotype Finding 20 1 0.100 None 0
CUI: C0008029
Disease: Cherubism
Cherubism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 22 6 0.010 None 1.000 1 2003 2003
CUI: C0423820
Disease: Ridged nails
Ridged nails 		phenotype Finding 22 0.100 None 0
CUI: C0038016
Disease: Spondylolisthesis
Spondylolisthesis 		disease Musculoskeletal Diseases Disease or Syndrome 28 1 0.100 None 0
CUI: C1834129
Disease: Abnormal vertebral morphology
Abnormal vertebral morphology 		phenotype Finding 28 0.100 None 0
CUI: C0279544
Disease: Adult Alveolar Soft Part Sarcoma
Adult Alveolar Soft Part Sarcoma 		disease Neoplasms Neoplastic Process 30 0.020 None 0.500 2 2011 2016
CUI: C0279985
Disease: Childhood Alveolar Soft Part Sarcoma
Childhood Alveolar Soft Part Sarcoma 		disease Neoplasms Neoplastic Process 30 0.020 None 0.500 2 2011 2016
CUI: C0343378
Disease: Helicobacter-associated gastritis
Helicobacter-associated gastritis 		disease Digestive System Diseases; Infections Disease or Syndrome 30 0.010 None 1.000 1 2005 2005