Source: UNIPROT

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0745103 Hyperlipoproteinemia Type IIa disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 2 131
C0020479 Hyperlipoproteinemia Type III disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 1 8
C2673196 LIPOPROTEIN GLOMERULOPATHY disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1 2
C1863051 ALZHEIMER DISEASE 2 disease Nervous System Diseases; Mental Disorders Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the nervous system 1 1