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: C4015409
Disease: OVARIAN DYSGENESIS 4
OVARIAN DYSGENESIS 4
disease Disease or Syndrome 1 3 0.700 strong 1.000 2 3 1989 2014
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver
disease Digestive System Diseases; Neoplasms Neoplastic Process 1649 88 0.200 None 1.000 1 2011 2011
Hepatoblastoma Caused By Somatic Mutation
disease Digestive System Diseases; Neoplasms Neoplastic Process 106 0.200 None 1.000 1 2011 2011
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
disease Neoplasms Neoplastic Process 452 22 0.200 None 1.000 1 2011 2011
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.200 None 1.000 1 2011 2011
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 1424 7 0.200 None 1.000 1 2011 2011
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.120 None 1.000 2 2014 2016
CUI: C0948896
Disease: Primary hypogonadism
Primary hypogonadism
disease Endocrine System Diseases Disease or Syndrome 80 6 0.110 None 1.000 1 1 2014 2014
CUI: C0596887
Disease: mathematical ability
mathematical ability
phenotype Mental Process 854 2127 0.100 None 1.000 1 2 2018 2018
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype Laboratory Procedure 717 1599 0.100 None 1.000 1 1 2019 2019
Dehydroepiandrosterone sulfate measurement (procedure)
phenotype Laboratory Procedure 18 27 0.100 None 1.000 1 1 2019 2019
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1236 1451 0.100 None 1.000 1 1 2019 2019
CUI: C0037369
Disease: Smoking
Smoking
phenotype Behavior and Behavior Mechanisms Individual Behavior 391 765 0.100 None 1.000 1 1 2019 2019
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
phenotype Finding 1010 0.100 None 0
CUI: C1262477
Disease: Weight decreased
Weight decreased
phenotype Pathological Conditions, Signs and Symptoms Finding 271 3 0.100 None 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype Finding 295 14 0.100 None 0
CUI: C4552079
Disease: Premature Ovarian Failure 1
Premature Ovarian Failure 1
disease Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 7 2 0.100 None 0 2
CUI: C0232939
Disease: Primary physiologic amenorrhea
Primary physiologic amenorrhea
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 129 10 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 0
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
disease Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 333 115 0.030 None 1.000 3 2015 2017
CUI: C0334108
Disease: Multiple polyps
Multiple polyps
disease Pathological Conditions, Signs and Symptoms Neoplastic Process 77 32 0.020 None 0.500 2 2015 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.020 None 1.000 2 2019 2019
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 299 90 0.020 None 1.000 2 2016 2017
CUI: C0747102
Disease: Ovarian failure
Ovarian failure
disease Endocrine System Diseases Disease or Syndrome 39 1 0.010 None 1.000 1 2014 2014
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.010 None 1.000 1 2019 2019