Source: BEFREE

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0740391 Middle Cerebral Artery Occlusion disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Acquired Abnormality 607 0
C0086543 Cataract disease Eye Diseases Acquired Abnormality genetic disease; disease of anatomical entity Abnormality of the eye 385 111
C0028259 Nodule phenotype Acquired Abnormality 278 19
C0333463 Senile Plaques disease Pathological Conditions, Signs and Symptoms Acquired Abnormality Abnormality of the nervous system 244 21
C0333307 Superficial ulcer disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 242 10
C0162810 Cicatrix, Hypertrophic disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 184 3
C0410158 Muscle damage phenotype Acquired Abnormality 163 4
C0332853 Anastomosis disease Acquired Abnormality 155 2
C0376154 Skin callus disease Skin and Connective Tissue Diseases Acquired Abnormality 154 0
C0152459 Linear atrophy disease Pathological Conditions, Signs and Symptoms Acquired Abnormality Abnormality of the integument 130 0
C0022548 Keloid disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Acquired Abnormality Abnormality of the integument; Abnormality of connective tissue 129 14
C2936349 Plaque, Amyloid disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 122 10
C1963943 Atherothrombosis disease Acquired Abnormality 115 15
C0339543 Epiretinal Membrane disease Eye Diseases Acquired Abnormality disease of anatomical entity Abnormality of the eye 97 0
C0332840 Amputated structure (morphologic abnormality) phenotype Wounds and Injuries Acquired Abnormality 94 0
C0036646 Age-related cataract disease Eye Diseases Acquired Abnormality genetic disease; disease of anatomical entity Abnormality of the eye 92 15
C1519666 Tumor-Associated Vasculature disease Acquired Abnormality 84 0
C0242621 Isochromosomes phenotype Pathological Conditions, Signs and Symptoms Acquired Abnormality 75 2
C0281899 Prolapsed lumbar disc disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Acquired Abnormality 75 33
C0004277 Tooth Attrition disease Stomatognathic Diseases Acquired Abnormality 66 5
C1262048 Glial scar phenotype Acquired Abnormality 51 0
C0080233 Tooth Loss disease Stomatognathic Diseases Acquired Abnormality 49 8
C0595995 Idiopathic scoliosis disease Musculoskeletal Diseases Acquired Abnormality disease of anatomical entity 46 17
C0015826 Fenestration (morphologic abnormality) disease Acquired Abnormality 43 0
C0333293 Healing ulcer disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 43 1