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: C3809781
Disease: Cole disease
Cole disease 		disease Disease or Syndrome 1 4 0.720 None 1.000 4 4 2009 2018
CUI: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2017 2017
CUI: C0694533
Disease: Moderate obesity
Moderate obesity 		disease Disease or Syndrome 12 1 0.010 None 1.000 1 2005 2005
CUI: C0854078
Disease: Diabetic end stage renal disease
Diabetic end stage renal disease 		disease Disease or Syndrome 7 1 0.010 None 1.000 1 2008 2008
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction 		phenotype Disease or Syndrome 716 25 0.010 None 1.000 1 2009 2009
CUI: C0948379
Disease: Impaired insulin secretion
Impaired insulin secretion 		disease Disease or Syndrome 88 14 0.010 None 1.000 1 2003 2003
CUI: C3178782
Disease: Aortic Stiffness
Aortic Stiffness 		phenotype Disease or Syndrome 61 11 0.010 None 1.000 1 2008 2008
CUI: C4552243
Disease: Dyschromatosis
Dyschromatosis 		disease Congenital Abnormality 3 1 0.010 None 1.000 1 2018 2018
CUI: C0239174
Disease: Late tooth eruption
Late tooth eruption 		phenotype Finding 139 4 0.100 None 0
CUI: C0241074
Disease: Hyperextensible skin
Hyperextensible skin 		phenotype Finding 50 11 0.100 None 0
CUI: C0262361
Disease: Growth abnormality
Growth abnormality 		phenotype Finding 49 5 0.100 None 0
CUI: C0262621
Disease: Abnormality of the sacroiliac joint
Abnormality of the sacroiliac joint 		phenotype Finding 4 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C0375206
Disease: Hemiplegia/hemiparesis
Hemiplegia/hemiparesis 		disease Disease or Syndrome 112 2 0.100 None 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		phenotype Finding 295 14 0.100 None 0
CUI: C1833667
Disease: Elevated alkaline phosphatase of bone origin
Elevated alkaline phosphatase of bone origin 		phenotype Finding 7 0.100 None 0
CUI: C1836940
Disease: Thickened nuchal skin fold
Thickened nuchal skin fold 		phenotype Finding 58 4 0.100 None 0
CUI: C1838663
Disease: Enlargement of the wrists
Enlargement of the wrists 		phenotype Finding 8 0.100 None 0
CUI: C1845169
Disease: Renal phosphate wasting
Renal phosphate wasting 		phenotype Finding 8 0.100 None 0
CUI: C1860107
Disease: Distal femoral bowing
Distal femoral bowing 		phenotype Finding 3 0.100 None 0
CUI: C1962966
Disease: Retinopathy, CTCAE
Retinopathy, CTCAE 		phenotype Finding 108 0.100 None 0
CUI: C1963077
Disease: Bone Pain, CTCAE 3.0
Bone Pain, CTCAE 3.0 		phenotype Finding 67 0.100 None 0
CUI: C1963165
Disease: Malabsorption, CTCAE
Malabsorption, CTCAE 		phenotype Finding 175 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 1010 0.100 None 0
CUI: C3279547
Disease: Hypergranulosis
Hypergranulosis 		phenotype Finding 16 0.100 None 0