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: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 403 67 0.010 None 1.000 1 2010 2010
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension
disease Cardiovascular Diseases Disease or Syndrome 445 293 0.010 None 1.000 1 2010 2010
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1236 1451 0.010 None 1.000 1 2017 2017
CUI: C0014175
Disease: Endometriosis
Endometriosis
disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 1188 274 0.010 None 1.000 1 2014 2014
CUI: C0014170
Disease: Endometrial Neoplasms
Endometrial Neoplasms
group Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 261 32 0.010 None 1.000 1 2009 2009
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.300 None 1.000 1 2009 2009
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 725 80 0.400 None 1.000 1 2015 2015
CUI: C0008043
Disease: Chiari-Frommel Syndrome
Chiari-Frommel Syndrome
disease Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases Disease or Syndrome 9 0.200 None 1.000 1 1994 1994
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1235 197 0.010 None 1.000 1 2013 2013
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2130 281 0.010 None 1.000 1 2012 2012
Malignant neoplasm of urinary bladder
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2113 316 0.010 None 1.000 1 2012 2012
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 127 83 0.010 None 1.000 1 2015 2015
CUI: C1955743
Disease: Mineralocorticoid deficiency
Mineralocorticoid deficiency
disease Endocrine System Diseases Disease or Syndrome 6 0.010 None 1.000 1 2016 2016
CUI: C1563731
Disease: Inguinal Cryptorchidism
Inguinal Cryptorchidism
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Finding 8 0.300 None 1.000 1 2015 2015
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
group Neoplasms; Male Urogenital Diseases Neoplastic Process 1722 31 0.310 None 1.000 1 2007 2007
Congenital absence of germinal epithelium of testes
disease Male Urogenital Diseases Congenital Abnormality 82 6 0.010 None 1.000 1 2008 2008
CUI: C1456784
Disease: Paranoia
Paranoia
disease Mental Disorders Mental or Behavioral Dysfunction 35 5 0.300 None 1.000 1 2012 2012
CUI: C1563730
Disease: Abdominal Cryptorchidism
Abdominal Cryptorchidism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 8 0.300 None 1.000 1 2015 2015
CUI: C0020595
Disease: Hypoaldosteronism
Hypoaldosteronism
disease Endocrine System Diseases Disease or Syndrome 18 0.010 None 1.000 1 2016 2016
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.200 None 1.000 1 2005 2005
CUI: C0020514
Disease: Hyperprolactinemia
Hyperprolactinemia
disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 48 10 0.200 None 1.000 1 1994 1994
CUI: C0001622
Disease: Adrenal Gland Hyperfunction
Adrenal Gland Hyperfunction
phenotype Endocrine System Diseases Disease or Syndrome 50 0.010 None 1.000 1 2016 2016
CUI: C0747249
Disease: Paranoid ideation
Paranoid ideation
disease Mental or Behavioral Dysfunction 9 2 0.010 None < 0.001 1 1 2012 2012
Absence of secondary sex characteristics
phenotype Finding 44 0.100 None 0
CUI: C4021124
Disease: Adrenocorticotropic hormone excess
Adrenocorticotropic hormone excess
phenotype Nervous System Diseases; Endocrine System Diseases Pathologic Function 5 0.100 None 0