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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.100 None 1.000 18 7 1990 2016
CUI: C3279839
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		disease Disease or Syndrome 1 39 0.600 None 1.000 13 39 2012 2017
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.140 None 1.000 5 10 2002 2016
CUI: C0683322
Disease: Mental impairment
Mental impairment 		disease Mental or Behavioral Dysfunction 67 14 0.020 None 1.000 2 2012 2018
CUI: C1305855
Disease: Body mass index
Body mass index 		phenotype Clinical Attribute 1014 2689 0.100 None 1.000 2 1 2019 2019
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		phenotype Laboratory Procedure 681 1322 0.100 None 1.000 1 1 2019 2019
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		phenotype Laboratory Procedure 610 1144 0.100 None 1.000 1 1 2019 2019
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 1.000 1 10 2015 2015
CUI: C0679309
Disease: physical symptom
physical symptom 		phenotype Sign or Symptom 10 0.010 None 1.000 1 2009 2009
CUI: C0853662
Disease: Oestrogen deficiency
Oestrogen deficiency 		disease Disease or Syndrome 85 1 0.010 None 1.000 1 2009 2009
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		phenotype Finding 75 24 0.100 None 1.000 1 6 2015 2015
CUI: C0877008
Disease: Enzyme inhibition disorder
Enzyme inhibition disorder 		phenotype Disease or Syndrome 171 1 0.010 None 1.000 1 2018 2018
CUI: C0948807
Disease: Hepatic impairment
Hepatic impairment 		phenotype Disease or Syndrome 9 0.010 None 1.000 1 2016 2016
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		phenotype Finding 653 1206 0.100 None 1.000 1 1 2019 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2018 2018
CUI: C1306341
Disease: Mental handicap
Mental handicap 		disease Mental or Behavioral Dysfunction 26 1 0.010 None 1.000 1 2012 2012
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		phenotype Pathologic Function 41 56 0.100 None 1.000 1 8 2015 2015
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		disease Finding 578 1158 0.100 None 1.000 1 1 2018 2018
CUI: C1843367
Disease: Poor school performance
Poor school performance 		phenotype Finding 211 411 0.100 None 1.000 1 17 2015 2015
CUI: C1968537
Disease: Severe speech delay
Severe speech delay 		phenotype Finding 1 9 0.100 None 1.000 1 9 2015 2015
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		phenotype Finding 160 246 0.100 None 1.000 1 17 2015 2015
CUI: C0029131
Disease: Abnormality of the optic nerve
Abnormality of the optic nerve 		phenotype Finding 18 11 0.100 None 0 1
CUI: C0152421
Disease: Macrotia
Macrotia 		disease Congenital Abnormality 188 18 0.100 None 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		phenotype Finding 473 62 0.100 None 0 8
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		phenotype Finding 123 13 0.100 None 0