Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0349588 Short stature phenotype Finding Growth abnormality 190 292
C0009402 Colorectal Carcinoma disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 43 100
C0152013 Adenocarcinoma of lung (disorder) disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the respiratory system 37 211
C0456070 Growth delay phenotype Pathologic Function Growth abnormality 31 40
C0235991 Small for gestational age (disorder) phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Finding Growth abnormality 28 34
C1168401 Squamous cell carcinoma of the head and neck disease Neoplasms Neoplastic Process disease of cellular proliferation 27 179
C0279680 Transitional cell carcinoma of bladder disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the genitourinary system; Neoplasm 26 141
C0149782 Squamous cell carcinoma of lung disease Neoplasms; Respiratory Tract Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the respiratory system 22 135
C0410528 Skeletal dysplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 16 58
C0026764 Multiple Myeloma disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of blood and blood-forming tissues 15 76
C0426790 Narrow thorax phenotype Finding Abnormality of the skeletal system 15 18
C0426817 Short ribs phenotype Finding Abnormality of the skeletal system 12 27
C1859461 Femoral bowing phenotype Musculoskeletal Diseases Finding Abnormality of limbs; Abnormality of the skeletal system 9 13
C0005684 Malignant neoplasm of urinary bladder disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 7 17
C0334082 NEVUS, EPIDERMAL (disorder) disease Neoplasms Disease or Syndrome disease of anatomical entity Abnormality of the integument 6 17
C1865186 Bell-shaped thorax phenotype Finding Abnormality of the skeletal system 5 7
C0153594 Malignant neoplasm of testis disease Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the genitourinary system; Neoplasm 4 10
C1849937 Disproportionate short-limb short stature phenotype Finding Growth abnormality 4 5
C0265269 Lacrimoauriculodentodigital syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome genetic disease 3 32
C0302592 Cervix carcinoma disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process disease of anatomical entity; disease of cellular proliferation 2 7
C0022603 Seborrheic keratosis disease Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity Abnormality of the integument; Neoplasm 2 5
C0345371 Hypoplasia of lower limb disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 2 3
C1837406 Hypoplasia involving bones of the upper limbs phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 2 3
C0410529 Hypochondroplasia (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality genetic disease; disease of anatomical entity 1 21
C0007097 Carcinoma group Neoplasms Neoplastic Process disease of cellular proliferation Neoplasm 1 15