Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0005910
Disease: Body Weight
Body Weight
phenotype Pathological Conditions, Signs and Symptoms Organism Attribute 57 92 0.400 None 1.000 3 1 2009 2012
CUI: C0028754
Disease: Obesity
Obesity
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.170 None 0.875 8 1 2009 2016
CUI: C1305855
Disease: Body mass index
Body mass index
phenotype Clinical Attribute 1014 2689 0.100 None 1.000 6 3 2009 2019
CUI: C0005893
Disease: Body mass index procedure
Body mass index procedure
phenotype Diagnostic Procedure 88 252 0.100 None 1.000 2 2 2009 2013
CUI: C1314691
Disease: Age at menarche
Age at menarche
phenotype Behavior and Behavior Mechanisms Finding 267 591 0.100 None 1.000 2 2 2010 2019
CUI: C0578022
Disease: Finding of body mass index
Finding of body mass index
phenotype Finding 88 252 0.100 None 1.000 2 2 2009 2013
CUI: C0455829
Disease: Waist Circumference
Waist Circumference
phenotype Clinical Attribute 70 183 0.100 None 1.000 1 1 2019 2019
CUI: C0424621
Disease: Body Fat Distribution
Body Fat Distribution
phenotype Finding 90 119 0.100 None 1.000 1 1 2019 2019
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis
disease Musculoskeletal Diseases Anatomical Abnormality 656 1178 0.100 None 1.000 1 1 2019 2019
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
disease Finding 578 1158 0.100 None 1.000 1 1 2019 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.010 None 1.000 1 2018 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.010 None 1.000 1 2018 2018
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 26 9 0.010 None 1.000 1 2003 2003
CUI: C1879328
Disease: Blindness both eyes NOS (disorder)
Blindness both eyes NOS (disorder)
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 7 0.010 None 1.000 1 2002 2002
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 43 192 0.010 None 1.000 1 2009 2009