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: C0016169
Disease: pathologic fistula
pathologic fistula 		phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 71 8 0.010 None 1.000 1 2013 2013
CUI: C0042834
Disease: Vital capacity
Vital capacity 		phenotype Clinical Attribute 430 746 0.100 None 1.000 1 1 2019 2019
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.020 None 1.000 2 2015 2015
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 426 87 0.020 None 1.000 2 2010 2014
CUI: C0003857
Disease: Congenital arteriovenous malformation
Congenital arteriovenous malformation 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 163 23 0.010 None 1.000 1 1999 1999
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 757 47 0.010 None 1.000 1 1989 1989
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 611 158 0.010 None 1.000 1 2015 2015
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 267 80 0.010 None 1.000 1 2010 2010
CUI: C0152415
Disease: Ankyloglossia
Ankyloglossia 		disease Stomatognathic Diseases Congenital Abnormality 19 2 0.010 None 1.000 1 2015 2015
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 234 4 0.010 None 1.000 1 2015 2015
CUI: C1737329
Disease: Dysmorphism
Dysmorphism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 80 16 0.010 None 1.000 1 2015 2015
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 295 70 0.010 None 1.000 1 2015 2015
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 190 75 0.010 None 1.000 1 2015 2015
CUI: C0040420
Disease: Tonometry
Tonometry 		phenotype Diagnostic Procedure 206 573 0.100 None 1.000 3 2 2018 2018
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 1883 1172 0.700 None 0.957 23 2 2000 2019
CUI: C0272138
Disease: Erythroblastosis
Erythroblastosis 		disease Disease or Syndrome 89 0.100 None 0.923 13 2005 2019
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 2723 2387 0.070 None 1.000 7 2 2001 2017
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		group Immune System Diseases Disease or Syndrome 1758 428 0.160 None 1.000 7 2 2011 2018
CUI: C0795841
Disease: Jacobsen Distal 11q Deletion Syndrome
Jacobsen Distal 11q Deletion Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 28 2 0.160 None 1.000 6 1 2010 2019
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		disease Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 527 263 0.400 None 1.000 3 3 2010 2016
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		disease Digestive System Diseases Disease or Syndrome 1458 827 0.120 None 1.000 3 2 2015 2016
CUI: C0014060
Disease: Encephalitis, St. Louis
Encephalitis, St. Louis 		disease Infections; Nervous System Diseases Disease or Syndrome 272 34 0.030 None 1.000 3 2000 2016
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		disease Musculoskeletal Diseases Disease or Syndrome 1827 247 0.030 None 1.000 3 2013 2016
CUI: C0033860
Disease: Psoriasis
Psoriasis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 1308 705 0.100 None 1.000 3 4 2012 2016
CUI: C0004096
Disease: Asthma
Asthma 		disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 2096 1536 0.110 None 1.000 2 1 2004 2011