Source: UNIPROT

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0278883 Metastatic melanoma disease Neoplasms Neoplastic Process 54 20
C3165106 Infiltrating duct carcinoma of female breast disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 21 10
C1321872 Stage IV Skin Melanoma disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 7 24
C3891448 NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO disease Finding 7 17
C2750850 GLIOMA SUSCEPTIBILITY 1 phenotype Finding 5 8
C0266313 Allanson Pantzar McLeod syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome Abnormality of the genitourinary system 3 4
C1846385 FOCAL CORTICAL DYSPLASIA OF TAYLOR disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 3 11
C1857662 COACH syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Nervous System Diseases Disease or Syndrome 3 24
C0029925 Ovarian Carcinoma disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2 2
C0265325 Turcot syndrome (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases Disease or Syndrome 2 14
C0346167 Undifferentiated carcinoma of ovary disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2 0
C1838990 ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL disease Finding 2 1
C1839040 LEBER OPTIC ATROPHY AND DYSTONIA disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases Disease or Syndrome 2 3
C1843139 Hypercholanemia, Familial disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 2 2
C1843463 Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 2 4
C1858656 Short Stature, Idiopathic, Autosomal disease Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 2 4
C1861556 Cirrhosis, Familial disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome 2 6
C1865871 HEMANGIOMA, CAPILLARY INFANTILE disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Disease or Syndrome 2 3
C2673536 Combined Cellular And Humoral Immune Defects With Granulomas disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 2 7
C3150902 C1q DEFICIENCY disease Disease or Syndrome 2 1
C4551959 ATRIAL STANDSTILL 1 disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 2 3
C0023440 Acute Erythroblastic Leukemia disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 1 1
C0025237 Melnick-Needles Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 2
C0027533 Neck Neoplasms group Neoplasms Neoplastic Process 1 1
C0158252 Intervertebral disc disorder group Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome 1 1