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: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease Congenital Abnormality 439 617 0.100 None 1.000 24 1 1976 2017
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.020 None 1.000 2 2016 2018
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.020 None 1.000 2 2001 2011
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate
phenotype Diagnostic Procedure 399 1033 0.100 None 1.000 1 1 2018 2018
Creatinine measurement, serum (procedure)
phenotype Laboratory Procedure 124 243 0.100 None 1.000 1 1 2018 2018
CUI: C0220810
Disease: Congenital defects
Congenital defects
group Congenital Abnormality 126 6 0.010 None 1.000 1 2017 2017
CUI: C0233715
Disease: Speech impairment
Speech impairment
phenotype Finding 3 2 0.300 limited 1.000 1 2012 2012
CUI: C0239399
Disease: Short extremities
Short extremities
phenotype Congenital Abnormality 38 10 0.010 None 1.000 1 2020 2020
Central nervous system demyelination
disease Disease or Syndrome 52 3 0.010 None 1.000 1 2018 2018
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 2017 2017
CUI: C0393907
Disease: Axonal sensorimotor neuropathy
Axonal sensorimotor neuropathy
disease Disease or Syndrome 9 2 0.010 None 1.000 1 2016 2016
CUI: C0398350
Disease: Acute cardiac pulmonary edema
Acute cardiac pulmonary edema
disease Disease or Syndrome 6 0.010 None 1.000 1 2019 2019
CUI: C0562557
Disease: Sexually disinhibited behavior
Sexually disinhibited behavior
phenotype Finding 1 0.300 limited 1.000 1 2012 2012
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction
phenotype Disease or Syndrome 716 25 0.010 None 1.000 1 2018 2018
CUI: C0858599
Disease: Taste sour
Taste sour
phenotype Sign or Symptom 4 0.010 None 1.000 1 2019 2019
CUI: C0877430
Disease: Asthma chronic
Asthma chronic
disease Disease or Syndrome 36 0.010 None 1.000 1 2017 2017
CUI: C1535950
Disease: Gastrointestinal inflammation
Gastrointestinal inflammation
disease Disease or Syndrome 39 0.010 None 1.000 1 2012 2012
CUI: C1658953
Disease: tumor vasculature
tumor vasculature
phenotype Neoplastic Process 200 0.010 None 1.000 1 2016 2016
CUI: C3665927
Disease: Renal hypoperfusion
Renal hypoperfusion
disease Disease or Syndrome 2 0.010 None 1.000 1 2019 2019
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2
disease Disease or Syndrome 2 1 0.400 None 1.000 1 1 2016 2016
CUI: C4552810
Disease: Irritability, CTCAE
Irritability, CTCAE
phenotype Finding 140 0.300 limited 1.000 1 2012 2012
CUI: C0234182
Disease: Gowers sign
Gowers sign
phenotype Finding 54 8 0.100 None 0
CUI: C0239594
Disease: Short finger
Short finger
phenotype Finding 37 1 0.100 None 0
CUI: C0239676
Disease: High forehead
High forehead
phenotype Finding 211 17 0.100 None 0
CUI: C0239830
Disease: Hand muscle atrophy
Hand muscle atrophy
phenotype Finding 10 2 0.100 None 0