Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0027651 Neoplasms group Neoplasms Neoplastic Process disease of cellular proliferation Neoplasm 23 87
C0026827 Muscle hypotonia phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Finding Abnormality of the musculature 23 34
C0149782 Squamous cell carcinoma of lung disease Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the respiratory system; Neoplasm 22 134
C2239176 Liver carcinoma disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 22 122
C0431399 Familial aplasia of the vermis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome genetic disease Abnormality of the nervous system 22 98
C1838979 MITOCHONDRIAL COMPLEX I DEFICIENCY disease Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism 22 72
C0752166 Bardet-Biedl Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome genetic disease 21 99
C0543888 Epileptic encephalopathy disease Disease or Syndrome Abnormality of the nervous system 20 50
C0009691 Congenital cataract disease Congenital Abnormality disease of anatomical entity Abnormality of the eye 20 47
C0011860 Diabetes Mellitus, Non-Insulin-Dependent disease Endocrine System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis; Abnormality of the endocrine system 20 29
C0025202 melanoma disease Neoplasms Neoplastic Process disease of cellular proliferation Abnormality of the integument; Neoplasm 19 116
C0026848 Myopathy group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity; disease of metabolism Abnormality of the musculature 19 37
C0028738 Nystagmus disease Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 19 26
C0424503 Dysmorphic facies phenotype Finding Abnormality of head or neck 18 21
C0036346 Schizophrenia, Childhood disease Mental Disorders Mental or Behavioral Dysfunction 18 17
C0949658 Cardiomyopathy, Hypertrophic, Familial disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome disease of anatomical entity 17 349
C0017636 Glioblastoma disease Neoplasms Neoplastic Process disease of cellular proliferation 17 116
C0007131 Non-Small Cell Lung Carcinoma disease Neoplasms; Respiratory Tract Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the respiratory system; Neoplasm 17 95
C0007112 Adenocarcinoma of prostate disease Neoplastic Process disease of anatomical entity; disease of cellular proliferation 17 92
C0007959 Charcot-Marie-Tooth Disease disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome disease of anatomical entity 17 35
C0376532 Epilepsy, Rolandic disease Nervous System Diseases Disease or Syndrome disease of anatomical entity 17 29
C2363129 Benign Rolandic Epilepsy disease Nervous System Diseases Disease or Syndrome disease of anatomical entity 17 29
C0339527 Leber Congenital Amaurosis disease Eye Diseases Disease or Syndrome disease of anatomical entity 17 28
C1858120 Generalized hypotonia phenotype Finding Abnormality of the musculature 17 17
C0281361 Adenocarcinoma of pancreas disease Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 16 111