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: C0424101
Disease: Inattention
Inattention 		phenotype Mental or Behavioral Dysfunction 66 22 0.020 None 1.000 2 2009 2019
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		disease Disease or Syndrome 168 27 0.020 None 1.000 2 2007 2008
CUI: C0202178
Disease: Phosphorus measurement
Phosphorus measurement 		phenotype Laboratory Procedure 11 17 0.100 None 1.000 1 1 2018 2018
CUI: C0234022
Disease: Anorgasmia
Anorgasmia 		disease Mental or Behavioral Dysfunction 1 0.010 None 1.000 1 2018 2018
CUI: C0523827
Disease: Inorganic phosphate measurement
Inorganic phosphate measurement 		phenotype Laboratory Procedure 11 17 0.100 None 1.000 1 1 2018 2018
CUI: C0549393
Disease: Alcohol problem
Alcohol problem 		phenotype Mental or Behavioral Dysfunction 23 5 0.010 None 1.000 1 2009 2009
CUI: C0745106
Disease: hyperparathyroid
hyperparathyroid 		disease Disease or Syndrome 14 0.010 None 1.000 1 2020 2020
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.010 None 1.000 1 2013 2013
CUI: C2699541
Disease: Cytokine Measurement
Cytokine Measurement 		phenotype Laboratory Procedure 82 123 0.100 None 1.000 1 1 2012 2012
CUI: C3554055
Disease: PEROXISOME BIOGENESIS DISORDER 14B
PEROXISOME BIOGENESIS DISORDER 14B 		disease Disease or Syndrome 2 2 0.010 None 1.000 1 2020 2020
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		disease Anatomical Abnormality 148 18 0.010 None 1.000 1 2002 2002
CUI: C4087411
Disease: Oncogenic hypophosphataemic osteomalacia
Oncogenic hypophosphataemic osteomalacia 		disease Disease or Syndrome 5 0.010 None 1.000 1 2001 2001
CUI: C4087506
Disease: Central neuropathic pain
Central neuropathic pain 		disease Disease or Syndrome 9 0.010 None 1.000 1 2017 2017
CUI: C0023222
Disease: Pain in lower limb
Pain in lower limb 		phenotype Sign or Symptom 31 2 0.100 None 0 1
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0 1
CUI: C0857973
Disease: Elevated circulating parathyroid hormone level
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 1
CUI: C1838662
Disease: Metaphyseal irregularity
Metaphyseal irregularity 		phenotype Finding 34 0.100 None 0
CUI: C1843983
Disease: Trapezoidal distal femoral condyles
Trapezoidal distal femoral condyles 		phenotype Finding 1 0.100 None 0
CUI: C1843985
Disease: Shortening of the talar neck
Shortening of the talar neck 		phenotype Finding 1 0.100 None 0
CUI: C1843986
Disease: Flattening of the talar dome
Flattening of the talar dome 		phenotype Finding 1 0.100 None 0
CUI: C1845169
Disease: Renal phosphate wasting
Renal phosphate wasting 		phenotype Finding 8 0.100 None 0
CUI: C1847879
Disease: X-linked dominant inheritance
X-linked dominant inheritance 		phenotype Finding 65 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: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 1010 0.100 None 0