Source: GWASDB

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0022548 Keloid disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Acquired Abnormality Abnormality of the integument; Abnormality of connective tissue 1 4
C0410702 Adolescent idiopathic scoliosis disease Musculoskeletal Diseases Anatomical Abnormality 3 7
C0032176 Platelet aggregation phenotype Cell Function 7 11
C3547188 response to fenofibrate phenotype Cell Function 4 5
C3547187 response to metformin phenotype Cell Function 3 14
C3546688 response to temozolomide phenotype Cell Function 1 1
C1305855 Body mass index phenotype Clinical Attribute 24 29
C0429028 QT interval feature (observable entity) phenotype Clinical Attribute 23 99
C0005938 Bone Density phenotype Clinical Attribute 22 350
C0018810 heart rate phenotype Clinical Attribute 17 32
C0455829 Waist Circumference phenotype Clinical Attribute 8 81
C1328319 Ankle brachial pressure index (observable entity) phenotype Clinical Attribute 5 33
C0424678 Lean body mass phenotype Clinical Attribute 3 5
C0008924 Cleft upper lip disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality disease of anatomical entity; syndrome; physical disorder Abnormality of head or neck 21 172
C0039685 Tetralogy of Fallot disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality disease of anatomical entity Abnormality of the cardiovascular system 9 14
C0700639 Pyloric Stenosis, Hypertrophic disease Digestive System Diseases Congenital Abnormality disease of anatomical entity 9 298
C0005411 Biliary Atresia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality disease of anatomical entity Abnormality of the digestive system 8 12
C1853238 Conotruncal defect disease Congenital Abnormality Abnormality of the cardiovascular system 2 7
C0009081 Congenital clubfoot disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality disease of anatomical entity Abnormality of limbs 1 1
C0018798 Congenital Heart Defects group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality disease of anatomical entity Abnormality of the cardiovascular system 1 2
C0149630 Bicuspid aortic valve disease Cardiovascular Diseases Congenital Abnormality disease of anatomical entity Abnormality of the cardiovascular system 1 1
C0152021 Congenital heart disease group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality disease of anatomical entity Abnormality of the cardiovascular system 1 3
C0158611 Other congenital anomalies of heart group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 1 2
C0432123 Sagittal craniosynostosis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 1 2
C0478009 Congenital malformation of cardiac chambers and connections, unspecified disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 1 2