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 0.110 None 1.000 21 7 1999 2016
CUI: C3552553
Disease: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA 		disease Disease or Syndrome 1 25 0.600 strong 1.000 10 25 2004 2016
CUI: C0220810
Disease: Congenital defects
Congenital defects 		group Congenital Abnormality 126 6 0.040 None 0.750 4 2009 2012
CUI: C0000846
Disease: Agenesis
Agenesis 		disease Congenital Abnormality 161 44 0.030 None 1.000 3 2008 2011
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		phenotype Laboratory Procedure 681 1322 0.100 None 1.000 3 3 2016 2019
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		phenotype Laboratory Procedure 610 1144 0.100 None 1.000 3 6 2016 2019
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure) 		phenotype Laboratory Procedure 145 234 0.100 None 1.000 2 2 2016 2018
CUI: C0243066
Disease: Atresia
Atresia 		disease Congenital Abnormality 44 1 0.020 None 1.000 2 2006 2014
CUI: C0878787
Disease: Growth failure
Growth failure 		phenotype Disease or Syndrome 84 7 0.020 None 1.000 2 1991 2018
CUI: C1853238
Disease: Conotruncal defect
Conotruncal defect 		disease Congenital Abnormality 51 45 0.020 None 1.000 2 2013 2014
CUI: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C0042834
Disease: Vital capacity
Vital capacity 		phenotype Clinical Attribute 430 746 0.100 None 1.000 1 1 2019 2019
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		phenotype Laboratory Procedure 272 452 0.100 None 1.000 1 3 2016 2016
CUI: C0266692
Disease: Craniopagus
Craniopagus 		disease Congenital Abnormality 1 0.010 None 1.000 1 1991 1991
CUI: C0332853
Disease: Anastomosis
Anastomosis 		disease Acquired Abnormality 155 2 0.010 None 1.000 1 1 2008 2008
CUI: C0342538
Disease: Constitutional delay of growth and puberty
Constitutional delay of growth and puberty 		disease Disease or Syndrome 16 7 0.010 None 1.000 1 2019 2019
CUI: C0432106
Disease: Midline facial cleft - Tessier cleft 0
Midline facial cleft - Tessier cleft 0 		disease Congenital Abnormality 8 1 0.010 None 1.000 1 1991 1991
CUI: C0740404
Disease: Limb defects
Limb defects 		group Congenital Abnormality 67 2 0.010 None 1.000 1 2007 2007
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		disease Disease or Syndrome 55 28 0.010 None 1.000 1 2019 2019
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction 		phenotype Disease or Syndrome 716 25 0.010 None 1.000 1 2017 2017
CUI: C0857490
Disease: Granulocyte count
Granulocyte count 		phenotype Laboratory Procedure 100 150 0.100 None 1.000 1 1 2016 2016
CUI: C0947961
Disease: Atopic disorders
Atopic disorders 		group Disease or Syndrome 29 2 0.010 None < 0.001 1 2018 2018
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2019 2019
CUI: C1629609
Disease: Age at menopause
Age at menopause 		phenotype Finding 129 209 0.100 None 1.000 1 1 2015 2015
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		disease Finding 578 1158 0.400 strong 1.000 1 1 2018 2018