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 0.100 None 1.000 10 2017 2019
CUI: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 878 124 0.020 None 1.000 2 2019 2019
CUI: C0162810
Disease: Cicatrix, Hypertrophic
Cicatrix, Hypertrophic
disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 185 3 0.020 None 1.000 2 2019 2019
CUI: C0333463
Disease: Senile Plaques
Senile Plaques
disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 249 21 0.020 None 1.000 2 2018 2019
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 2019 2019
CUI: C0028790
Disease: Cerebral artery occlusion
Cerebral artery occlusion
disease Nervous System Diseases; Cardiovascular Diseases Acquired Abnormality 9 0.010 None 1.000 1 2018 2018
CUI: C0242362
Disease: Disk, Herniated
Disk, Herniated
disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Acquired Abnormality 31 0.010 None 1.000 1 2011 2011
CUI: C0242621
Disease: Isochromosomes
Isochromosomes
phenotype Pathological Conditions, Signs and Symptoms Acquired Abnormality 75 2 0.010 None 1.000 1 2019 2019
CUI: C0339543
Disease: Epiretinal Membrane
Epiretinal Membrane
disease Eye Diseases Acquired Abnormality 102 0.010 None 1.000 1 2020 2020
CUI: C1262048
Disease: Glial scar
Glial scar
phenotype Acquired Abnormality 51 0.010 None 1.000 1 2016 2016
CUI: C2936349
Disease: Plaque, Amyloid
Plaque, Amyloid
disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 123 10 0.010 None 1.000 1 2019 2019
CUI: C0398368
Disease: Lymphatic Abnormalities
Lymphatic Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Anatomical Abnormality 30 6 0.050 None 1.000 5 2015 2019
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality 47 5 0.020 None 1.000 2 2018 2018
CUI: C0009918
Disease: Contracture of joint
Contracture of joint
disease Musculoskeletal Diseases Anatomical Abnormality 36 0.010 None 1.000 1 2019 2019
CUI: C0302142
Disease: Deformity
Deformity
group Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Anatomical Abnormality 350 26 0.010 None 1.000 1 2018 2018
CUI: C0679403
Disease: Vascular stenosis
Vascular stenosis
disease Pathological Conditions, Signs and Symptoms Anatomical Abnormality 15 3 0.010 None 1.000 1 2017 2017
CUI: C1260954
Disease: Morphologically altered structure
Morphologically altered structure
disease Anatomical Abnormality 46 0.010 None 1.000 1 2006 2006
CUI: C3278509
Disease: Spinal fusion
Spinal fusion
disease Anatomical Abnormality 67 2 0.010 None 1.000 1 2017 2017
Congenital contractural arachnodactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 559 48 0.090 None 1.000 9 2008 2019
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 367 10 0.080 None 1.000 8 1 2014 2019
CUI: C2720434
Disease: Macroencephaly
Macroencephaly
disease Congenital Abnormality 22 3 0.070 None 1.000 7 1 2014 2019
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.050 None 1.000 5 2013 2019
CUI: C0432283
Disease: Osteoglophonic dwarfism
Osteoglophonic dwarfism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 100 4 0.050 None 1.000 5 2017 2019
CUI: C0265950
Disease: Venous malformation
Venous malformation
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 38 3 0.030 None 1.000 3 2015 2019
CUI: C2937220
Disease: Congenital abnormality of vein
Congenital abnormality of vein
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 39 7 0.030 None 1.000 3 2015 2019