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: C1855669
Disease: Absent frontal sinuses
Absent frontal sinuses
phenotype Finding 9 1 0.100 None 0
CUI: C0239174
Disease: Late tooth eruption
Late tooth eruption
phenotype Finding 139 4 0.100 None 0
CUI: C0024003
Disease: Lordosis
Lordosis
phenotype Musculoskeletal Diseases Disease or Syndrome 160 15 0.100 None 0
CUI: C1398312
Disease: Narrow palate
Narrow palate
phenotype Finding 40 5 0.100 None 0
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype Musculoskeletal Diseases Anatomical Abnormality 305 10 0.100 None 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease Musculoskeletal Diseases Disease or Syndrome 850 135 0.100 None 0
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 325 43 0.100 None 0
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.100 None 0
CUI: C0037268
Disease: Skin Abnormalities
Skin Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 106 16 0.100 None 0
Failure of exfoliation of primary tooth
phenotype Disease or Syndrome 12 1 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 0
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype Pathological Conditions, Signs and Symptoms Finding 345 19 0.100 None 0
CUI: C0038016
Disease: Spondylolisthesis
Spondylolisthesis
disease Musculoskeletal Diseases Disease or Syndrome 28 1 0.100 None 0
CUI: C0038018
Disease: Spondylolysis
Spondylolysis
disease Musculoskeletal Diseases Disease or Syndrome 9 2 0.100 None 0
CUI: C0040427
Disease: Tooth Abnormalities
Tooth Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Anatomical Abnormality 54 2 0.100 None 0
CUI: C0239676
Disease: High forehead
High forehead
phenotype Finding 211 17 0.100 None 0
CUI: C0151825
Disease: Bone pain
Bone pain
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Sign or Symptom 139 0.100 None 0
CUI: C0423820
Disease: Ridged nails
Ridged nails
phenotype Finding 22 0.100 None 0
CUI: C0542514
Disease: Blue sclera
Blue sclera
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Finding 70 13 0.100 None 0
CUI: C4721411
Disease: Osteolysis
Osteolysis
phenotype Musculoskeletal Diseases Pathologic Function 62 0.100 None 0
Osteolytic defects of the distal phalanges of the hand
phenotype Musculoskeletal Diseases Finding 4 0.100 None 0
CUI: C1853242
Disease: Midface retrusion
Midface retrusion
phenotype Finding 228 0.100 None 0
CUI: C1853737
Disease: Prominent occiput
Prominent occiput
phenotype Finding 53 1 0.100 None 0
CUI: C1858085
Disease: Malar flattening
Malar flattening
disease Anatomical Abnormality 190 12 0.100 None 0
CUI: C1963077
Disease: Bone Pain, CTCAE 3.0
Bone Pain, CTCAE 3.0
phenotype Finding 67 0.100 None 0