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: C0740391
Disease: Middle Cerebral Artery Occlusion
Middle Cerebral Artery Occlusion
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Acquired Abnormality 626 0.050 None 1.000 5 2018 2019
CUI: C0162810
Disease: Cicatrix, Hypertrophic
Cicatrix, Hypertrophic
disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 185 3 0.020 None 1.000 2 2009 2015
CUI: C0022548
Disease: Keloid
Keloid
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Acquired Abnormality 165 15 0.010 None 1.000 1 2013 2013
CUI: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 878 124 0.010 None 1.000 1 2019 2019
CUI: C0009376
Disease: Colonic Polyps
Colonic Polyps
phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 69 8 0.050 None 0.800 5 2002 2010
CUI: C0032584
Disease: polyps
polyps
phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 390 18 0.020 None 1.000 2 2003 2003
CUI: C3544347
Disease: Intestinal fibrosis
Intestinal fibrosis
phenotype Anatomical Abnormality 65 0.020 None 1.000 2 2016 2017
CUI: C2919945
Disease: Cavernous Hemangioma of Brain
Cavernous Hemangioma of Brain
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Anatomical Abnormality 127 43 0.010 None 1.000 1 2009 2009
CUI: C3854333
Disease: Narrowing
Narrowing
disease Anatomical Abnormality 8 0.010 None 1.000 1 2008 2008
CUI: C0005937
Disease: Bone Cysts
Bone Cysts
disease Neoplasms; Musculoskeletal Diseases Anatomical Abnormality 35 4 0.100 None 0
CUI: C4021745
Disease: Abnormality of the musculature
Abnormality of the musculature
phenotype Anatomical Abnormality 24 0.100 None 0
Abnormality of skeletal muscle fiber size
phenotype Anatomical Abnormality 8 0.100 None 0
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face
phenotype Anatomical Abnormality 31 24 0.100 None 0
CUI: C4025887
Disease: Abnormal oral cavity morphology
Abnormal oral cavity morphology
disease Anatomical Abnormality 12 0.100 None 0
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration
phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 165 17 0.300 None 1.000 1 2008 2008
CUI: C1305855
Disease: Body mass index
Body mass index
phenotype Clinical Attribute 1014 2689 0.100 None 1.000 7 5 2012 2019
CUI: C0455829
Disease: Waist Circumference
Waist Circumference
phenotype Clinical Attribute 70 183 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 0.040 None 1.000 4 2000 2018
CUI: C0085758
Disease: Aganglionosis, Colonic
Aganglionosis, Colonic
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 36 11 0.020 None 1.000 2 2014 2018
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 615 45 0.020 None 1.000 2 2005 2005
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 393 14 0.020 None 1.000 2 2005 2005
Congenital contractural arachnodactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 559 48 0.010 None 1.000 1 2017 2017
CUI: C0344688
Disease: Patent Ductus Venosus
Patent Ductus Venosus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 1 0.010 None 1.000 1 2019 2019
Congenital aneurysm of ascending aorta
disease Cardiovascular Diseases Congenital Abnormality 16 19 0.010 None 1.000 1 2002 2002
CUI: C0345288
Disease: Liver hyperplasia
Liver hyperplasia
disease Congenital Abnormality 10 0.010 None 1.000 1 2017 2017