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: C0523979
Disease: Vitamin D3 measurement
Vitamin D3 measurement
phenotype Laboratory Procedure 14 51 0.100 None 1.000 2 4 2010 2018
CUI: C0919758
Disease: Vitamin D measurement
Vitamin D measurement
phenotype Laboratory Procedure 14 51 0.100 None 1.000 2 4 2010 2018
CUI: C1291314
Disease: Deficiency of monooxygenase
Deficiency of monooxygenase
disease Disease or Syndrome 17 15 0.010 None 1.000 1 2017 2017
Differentiated Thyroid Gland Carcinoma
disease Neoplastic Process 245 80 0.010 None 1.000 1 2 2012 2012
CUI: C3826457
Disease: Diabetes in children
Diabetes in children
disease Disease or Syndrome 22 2 0.010 None 1.000 1 2012 2012
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease
disease Disease or Syndrome 741 81 0.010 None 1.000 1 1 2018 2018
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.010 None 1.000 1 2016 2016
Primary differentiated carcinoma of thyroid gland
disease Neoplastic Process 167 41 0.010 None 1.000 1 2 2012 2012
CUI: C0239174
Disease: Late tooth eruption
Late tooth eruption
phenotype Finding 139 4 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 0
CUI: C0410935
Disease: Wide cranial sutures
Wide cranial sutures
phenotype Finding 10 1 0.100 None 0
CUI: C0456070
Disease: Growth delay
Growth delay
phenotype Pathologic Function 244 40 0.100 None 0
Elevated circulating parathyroid hormone level
phenotype Finding 18 1 0.100 None 0
CUI: C1314665
Disease: Serum alkaline phosphatase raised
Serum alkaline phosphatase raised
phenotype Finding 67 6 0.100 None 0
Increased susceptibility to fractures
phenotype Finding 42 5 0.100 None 0
CUI: C1833324
Disease: Sparse bone trabeculae
Sparse bone trabeculae
phenotype Finding 5 0.100 None 0
CUI: C1833325
Disease: Thin bony cortex
Thin bony cortex
phenotype Finding 14 0.100 None 0
CUI: C1833329
Disease: Bulging epiphyses
Bulging epiphyses
phenotype Finding 5 0.100 None 0
Elevated alkaline phosphatase of bone origin
phenotype Finding 7 0.100 None 0
CUI: C1837402
Disease: Flat occiput
Flat occiput
phenotype Finding 45 6 0.100 None 0
CUI: C1838659
Disease: Deformed rib cage
Deformed rib cage
phenotype Anatomical Abnormality 4 0.100 None 0
CUI: C1838662
Disease: Metaphyseal irregularity
Metaphyseal irregularity
phenotype Finding 34 0.100 None 0
CUI: C1838663
Disease: Enlargement of the wrists
Enlargement of the wrists
phenotype Finding 8 0.100 None 0
CUI: C1838664
Disease: Enlargement of the ankles
Enlargement of the ankles
phenotype Finding 6 0.100 None 0
CUI: C1847868
Disease: Generalized aminoaciduria
Generalized aminoaciduria
phenotype Finding 11 0.100 None 0