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: C0162810
Disease: Cicatrix, Hypertrophic
Cicatrix, Hypertrophic
disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 185 3 0.080 None 1.000 8 2009 2018
CUI: C0022548
Disease: Keloid
Keloid
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Acquired Abnormality 165 15 0.030 None 1.000 3 2006 2015
CUI: C0339543
Disease: Epiretinal Membrane
Epiretinal Membrane
disease Eye Diseases Acquired Abnormality 102 0.020 None 1.000 2 2017 2019
CUI: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 878 124 0.010 None 1.000 1 1999 1999
CUI: C0155164
Disease: Conjunctival scar
Conjunctival scar
disease Pathological Conditions, Signs and Symptoms; Eye Diseases Acquired Abnormality 14 0.010 None 1.000 1 2003 2003
CUI: C0156181
Disease: Peritoneal adhesion
Peritoneal adhesion
disease Digestive System Diseases; Skin and Connective Tissue Diseases Acquired Abnormality 32 0.010 None 1.000 1 2015 2015
CUI: C0235259
Disease: Subcapsular cataract
Subcapsular cataract
disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Acquired Abnormality 17 1 0.010 None 1.000 1 2000 2000
CUI: C0410158
Disease: Muscle damage
Muscle damage
phenotype Acquired Abnormality 163 4 0.010 None 1.000 1 2017 2017
CUI: C1262048
Disease: Glial scar
Glial scar
phenotype Acquired Abnormality 51 0.010 None 1.000 1 2018 2018
CUI: C1839942
Disease: Retinal fibrosis
Retinal fibrosis
disease Acquired Abnormality 4 0.010 None < 0.001 1 2019 2019
CUI: C0009376
Disease: Colonic Polyps
Colonic Polyps
phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 69 8 0.010 None 1.000 1 2019 2019
CUI: C0009917
Disease: Contracture
Contracture
disease Musculoskeletal Diseases Anatomical Abnormality 111 12 0.010 None 1.000 1 2018 2018
CUI: C0029866
Disease: Other ureteric obstruction
Other ureteric obstruction
phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Anatomical Abnormality 52 0.200 None 1.000 1 2009 2009
CUI: C0032584
Disease: polyps
polyps
phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 390 18 0.010 None 1.000 1 2018 2018
CUI: C3544347
Disease: Intestinal fibrosis
Intestinal fibrosis
phenotype Anatomical Abnormality 65 0.010 None 1.000 1 2017 2017
CUI: C0158113
Disease: Contracture of joint of hand
Contracture of joint of hand
disease Musculoskeletal Diseases Anatomical Abnormality 55 5 0.100 None 0
CUI: C0343149
Disease: Contracture of joint of foot
Contracture of joint of foot
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Anatomical Abnormality 9 0.100 None 0
CUI: C4021910
Disease: Narrow foramen obturatorium
Narrow foramen obturatorium
disease Anatomical Abnormality 6 0.100 None 0
CUI: C4022020
Disease: Mucosal telangiectasiae
Mucosal telangiectasiae
disease Cardiovascular Diseases Anatomical Abnormality 16 0.100 None 0
CUI: C0005411
Disease: Biliary Atresia
Biliary Atresia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 184 32 0.030 None 1.000 3 2005 2016
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 239 31 0.300 None 1.000 2 2010 2011
Congenital hernia of foramen of Morgagni
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 19 0.300 None 1.000 2 2010 2011
Congenital hernia of foramen of Bochdalek
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 21 0.300 None 1.000 2 2010 2011
Congenital atresia of extrahepatic bile duct
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 172 19 0.020 None 1.000 2 2005 2005
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve
disease Cardiovascular Diseases Congenital Abnormality 154 23 0.010 None 1.000 1 2017 2017