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: C4073162
Disease: Elevated hemoglobin A1c
Elevated hemoglobin A1c
phenotype Finding 14 0.100 None 0
CUI: C0035305
Disease: Retinal Detachment
Retinal Detachment
disease Eye Diseases Disease or Syndrome 148 10 0.100 None 0
CUI: C0037293
Disease: Skin tag
Skin tag
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 17 1 0.100 None 0
Aspartate Aminotransferase Increased
phenotype Digestive System Diseases Finding 4 0.100 None 0
CUI: C1865037
Disease: Cone-shaped epiphysis
Cone-shaped epiphysis
phenotype Finding 49 2 0.100 None 0
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal
disease Cardiovascular Diseases Disease or Syndrome 586 90 0.100 None 0
CUI: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 596 81 0.100 None 0
CUI: C0340279
Disease: Ventricular hypertrophy
Ventricular hypertrophy
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 60 9 0.100 None 0
CUI: C0854110
Disease: Insulin-resistant diabetes mellitus
Insulin-resistant diabetes mellitus
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 21 2 0.100 None 0
CUI: C1833144
Disease: Slender long bone
Slender long bone
phenotype Finding 35 5 0.100 None 0
CUI: C1839546
Disease: Microretrognathia
Microretrognathia
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Finding 53 6 0.100 None 0
CUI: C1849039
Disease: Metaphyseal widening
Metaphyseal widening
phenotype Finding 43 3 0.100 None 0
CUI: C1858732
Disease: Malar prominence
Malar prominence
phenotype Finding 10 0.100 None 0
CUI: C1859014
Disease: Primary gonadal insufficiency
Primary gonadal insufficiency
phenotype Finding 21 0.100 None 0
CUI: C1860105
Disease: Severe short-limb dwarfism
Severe short-limb dwarfism
disease Disease or Syndrome 5 0.100 None 0
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
disease Digestive System Diseases Disease or Syndrome 1143 75 0.100 None 0
Elevated circulating follicle stimulating hormone level
phenotype Finding 26 0.100 None 0
Elevated circulating luteinizing hormone level
phenotype Finding 23 0.100 None 0
CUI: C0151905
Disease: Alanine Aminotransferase Increased
Alanine Aminotransferase Increased
phenotype Digestive System Diseases Finding 1 0.100 None 0
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 586 53 0.100 None 0
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.100 None 0
CUI: C0017979
Disease: Glycosuria
Glycosuria
phenotype Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 53 7 0.100 None 0
CUI: C0015695
Disease: Fatty Liver
Fatty Liver
disease Digestive System Diseases Disease or Syndrome 875 35 0.100 None 0
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.100 None 0
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 155 132 0.200 None 0