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: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.100 None 1.000 12 2000 2019
CUI: C0238790
Disease: bone destruction
bone destruction
disease Disease or Syndrome 234 3 0.050 None 0.800 5 2001 2017
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.020 None 1.000 2 2014 2019
CUI: C0221106
Disease: Alkalemia
Alkalemia
disease Disease or Syndrome 38 0.010 None 1.000 1 2017 2017
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
disease Neoplastic Process 573 14 0.010 None 1.000 1 2014 2014
Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site
disease Disease or Syndrome 593 24 0.010 None 1.000 1 2004 2004
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease Congenital Abnormality 439 617 0.010 None 1.000 1 2014 2014
CUI: C1333065
Disease: Lung Clear Cell Tumor
Lung Clear Cell Tumor
disease Neoplastic Process 5 0.010 None 1.000 1 2018 2018
CUI: C1335146
Disease: Osteogenic Neoplasm
Osteogenic Neoplasm
disease Neoplastic Process 7 0.010 None 1.000 1 2019 2019
CUI: C2826323
Disease: Refractory Cytopenia of Childhood
Refractory Cytopenia of Childhood
disease Neoplastic Process 264 3 0.010 None 1.000 1 2016 2016
CUI: C4049446
Disease: Neointimal hyperplasia
Neointimal hyperplasia
disease Disease or Syndrome 198 0.010 None 1.000 1 2019 2019
CUI: C0239174
Disease: Late tooth eruption
Late tooth eruption
phenotype Finding 139 4 0.100 None 0
CUI: C0239676
Disease: High forehead
High forehead
phenotype Finding 211 17 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: C0423820
Disease: Ridged nails
Ridged nails
phenotype Finding 22 0.100 None 0
CUI: C0426415
Disease: Large nose
Large nose
phenotype Finding 70 7 0.100 None 0
CUI: C0426790
Disease: Narrow thorax
Narrow thorax
phenotype Finding 112 18 0.100 None 0
CUI: C1398312
Disease: Narrow palate
Narrow palate
phenotype Finding 40 5 0.100 None 0
CUI: C1834129
Disease: Abnormal vertebral morphology
Abnormal vertebral morphology
phenotype Finding 28 0.100 None 0
CUI: C1836195
Disease: Short toe
Short toe
phenotype Finding 56 3 0.100 None 0
CUI: C1837388
Disease: Abnormal pattern of respiration
Abnormal pattern of respiration
phenotype Finding 20 1 0.100 None 0
CUI: C1839829
Disease: Short distal phalanx of finger
Short distal phalanx of finger
phenotype Finding 85 3 0.100 None 0
CUI: C1849537
Disease: Persistent open anterior fontanelle
Persistent open anterior fontanelle
phenotype Finding 5 2 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