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: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.100 None 1.000 13 2007 2019
CUI: C0544848
Disease: Dystrophy, granular
Dystrophy, granular 		disease Disease or Syndrome 4 8 0.050 None 1.000 5 6 1995 2016
CUI: C2939149
Disease: Amyloid of cornea
Amyloid of cornea 		disease Disease or Syndrome 4 5 0.040 None 0.750 4 3 2004 2007
CUI: C4700127
Disease: Thiel-behnke
Thiel-behnke 		disease Disease or Syndrome 2 2 0.030 None 1.000 3 2 1999 2008
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.020 None 1.000 2 1 2008 2009
CUI: C2347748
Disease: Adult Erythroleukemia
Adult Erythroleukemia 		disease Neoplastic Process 236 4 0.020 None 1.000 2 1990 1991
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		phenotype Laboratory Procedure 1156 2575 0.100 None 1.000 2 3 2018 2018
CUI: C0026985
Disease: Myelodysplasia
Myelodysplasia 		disease Congenital Abnormality 181 4 0.010 None 1.000 1 1994 1994
CUI: C0028259
Disease: Nodule
Nodule 		phenotype Acquired Abnormality 278 19 0.010 None 1.000 1 2000 2000
CUI: C0268070
Disease: Hypocupremia
Hypocupremia 		disease Disease or Syndrome 23 2 0.010 None 1.000 1 2019 2019
CUI: C0860659
Disease: Aloof
Aloof 		disease Mental or Behavioral Dysfunction 81 0.010 None 1.000 1 1996 1996
CUI: C1402315
Disease: Vascular lesions
Vascular lesions 		disease Disease or Syndrome 111 9 0.010 None 1.000 1 1996 1996
CUI: C1658953
Disease: tumor vasculature
tumor vasculature 		phenotype Neoplastic Process 200 0.010 None 1.000 1 2013 2013
CUI: C1969372
Disease: Tubulointerstitial fibrosis
Tubulointerstitial fibrosis 		phenotype Disease or Syndrome 328 0.200 None 1.000 1 2004 2004
CUI: C2921627
Disease: Clinically isolated syndrome
Clinically isolated syndrome 		disease Disease or Syndrome 54 2 0.010 None 1.000 1 2018 2018
CUI: C4699184
Disease: Fuchs
Fuchs 		disease Disease or Syndrome 10 5 0.010 None 1.000 1 1996 1996
CUI: C4733095
Disease: HER2-negative breast cancer
HER2-negative breast cancer 		disease Neoplastic Process 160 18 0.010 None 1.000 1 2019 2019
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss 		phenotype Finding 77 11 0.100 None 0
CUI: C4024792
Disease: Nodular corneal dystrophy
Nodular corneal dystrophy 		phenotype Finding 1 0.100 None 0
CUI: C4024796
Disease: Punctate corneal dystrophy
Punctate corneal dystrophy 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C0344315
Disease: Depressed mood
Depressed mood 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1461 269 0.010 None 1.000 1 2007 2007
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.010 None 1.000 1 2006 2006
CUI: C0018799
Disease: Heart Diseases
Heart Diseases 		group Cardiovascular Diseases Disease or Syndrome 537 45 0.010 None 1.000 1 2017 2017
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		disease Cardiovascular Diseases Disease or Syndrome 1708 1577 0.010 None 1.000 1 2003 2003
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 113 25 0.200 None 0.992 123 8 1996 2019