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 21 5 2002 2016
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.100 None 1.000 16 2006 2019
CUI: C0424492
Disease: Coarse features
Coarse features 		phenotype Finding 2 2 0.100 None 1.000 5 1 2007 2011
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		phenotype Finding 106 20 0.100 None 1.000 5 1 2007 2011
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		phenotype Finding 473 62 0.100 None 1.000 3 1 2007 2007
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.110 None 1.000 1 3 2008 2008
CUI: C0741916
Disease: Cardiac defects
Cardiac defects 		group Disease or Syndrome 62 2 0.010 None 1.000 1 2007 2007
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		disease Neoplastic Process 860 154 0.010 None 1.000 1 2016 2016
CUI: C0878552
Disease: Coronary artery ectasia
Coronary artery ectasia 		disease Disease or Syndrome 24 1 0.010 None 1.000 1 2016 2016
CUI: C1519666
Disease: Tumor-Associated Vasculature
Tumor-Associated Vasculature 		disease Acquired Abnormality 84 0.010 None 1.000 1 2017 2017
CUI: C4049446
Disease: Neointimal hyperplasia
Neointimal hyperplasia 		disease Disease or Syndrome 198 0.010 None 1.000 1 2018 2018
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.010 None 1.000 1 2008 2008
CUI: C4743661
Disease: Leukocyte Adhesion Deficiency Type 3
Leukocyte Adhesion Deficiency Type 3 		disease Disease or Syndrome 11 3 0.010 None 1.000 1 2009 2009
CUI: C0158465
Disease: Acquired cubitus valgus
Acquired cubitus valgus 		disease Acquired Abnormality 35 1 0.100 None 0
CUI: C0239676
Disease: High forehead
High forehead 		phenotype Finding 211 17 0.100 None 0
CUI: C0277959
Disease: Coarse hair
Coarse hair 		phenotype Finding 60 4 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0 4
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		phenotype Finding 391 49 0.100 None 0 2
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		phenotype Finding 91 16 0.100 None 0 1
CUI: C0521525
Disease: Short neck
Short neck 		phenotype Finding 288 29 0.100 None 0 1
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		phenotype Finding 295 14 0.100 None 0
CUI: C0558165
Disease: Curly hair (finding)
Curly hair (finding) 		phenotype Finding 24 7 0.100 None 0 1
CUI: C0578626
Disease: blue iris (physical finding)
blue iris (physical finding) 		phenotype Finding 28 2 0.100 None 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		disease Congenital Abnormality 417 30 0.100 None 0 1
CUI: C0855740
Disease: Abnormal platelet function
Abnormal platelet function 		phenotype Finding 21 2 0.100 None 0