Source: ALL
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: C0151721
Disease: Testicular hypogonadism
Testicular hypogonadism
disease Endocrine System Diseases Disease or Syndrome 50 1 0.100 None 0
CUI: C0311277
Disease: Obesity, Abdominal
Obesity, Abdominal
phenotype Nutritional and Metabolic Diseases Finding 21 0.100 None 0
CUI: C0339693
Disease: Internal Ophthalmoplegia
Internal Ophthalmoplegia
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 5 0.100 None 0
Adrenocorticotropic hormone (ACTH) deficiency (disorder)
disease Endocrine System Diseases Disease or Syndrome 24 1 0.100 None 0
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 242 99 0.100 None 0
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion
disease Stomatognathic Diseases Congenital Abnormality 181 19 0.100 None 0
CUI: C0423757
Disease: Thin skin
Thin skin
phenotype Finding 77 4 0.100 None 0
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise
phenotype Wounds and Injuries Finding 133 14 0.100 None 0
CUI: C0426421
Disease: Wide nose
Wide nose
phenotype Finding 87 1 0.100 None 0
CUI: C0426870
Disease: Large hand
Large hand
phenotype Finding 35 7 0.100 None 0
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding)
phenotype Finding 91 19 0.100 None 0
CUI: C0431447
Disease: Synophrys
Synophrys
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 111 23 0.100 None 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy
phenotype Pathologic Function 306 12 0.100 None 0
CUI: C0544886
Disease: Somatic mutation
Somatic mutation
phenotype Cell or Molecular Dysfunction 151 0.100 None 0
CUI: C0702166
Disease: Acne
Acne
disease Skin and Connective Tissue Diseases Disease or Syndrome 167 11 0.100 None 0
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group Cardiovascular Diseases Disease or Syndrome 925 294 0.100 None 0
CUI: C0917799
Disease: Hypersomnia
Hypersomnia
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 70 7 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: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism
disease Endocrine System Diseases Disease or Syndrome 178 18 0.100 None 0
CUI: C0271578
Disease: Female hypogonadism syndrome
Female hypogonadism syndrome
disease Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 25 0.100 None 0
CUI: C0152031
Disease: Joint swelling
Joint swelling
phenotype Pathological Conditions, Signs and Symptoms Finding 33 0.100 None 0
CUI: C0152421
Disease: Macrotia
Macrotia
disease Congenital Abnormality 188 18 0.100 None 0
CUI: C0152459
Disease: Linear atrophy
Linear atrophy
disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 149 6 0.100 None 0
CUI: C0156404
Disease: Irregular Menstruation
Irregular Menstruation
phenotype Pathological Conditions, Signs and Symptoms Finding 9 3 0.100 None 0
CUI: C0162285
Disease: Edema of eyelid
Edema of eyelid
phenotype Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Immune System Diseases; Cardiovascular Diseases Pathologic Function 22 1 0.100 None 0