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: C2752149
Disease: 46,XY Sex Reversal 4
46,XY Sex Reversal 4 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 1 1 0.100 None 0 1
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism 		disease Endocrine System Diseases Disease or Syndrome 178 18 0.100 None 0
CUI: C4021107
Disease: Non-obstructive azoospermia
Non-obstructive azoospermia 		disease Male Urogenital Diseases Disease or Syndrome 168 88 0.100 None 0 1
CUI: C0238395
Disease: Male Pseudohermaphroditism
Male Pseudohermaphroditism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 50 4 0.100 None 0
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 988 363 0.100 None 0
CUI: C0432470
Disease: 46, XY female
46, XY female 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 25 5 0.010 None 1.000 1 1999 1999
CUI: C2827503
Disease: HFE-Associated Hereditary Hemochromatosis
HFE-Associated Hereditary Hemochromatosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 10 3 0.010 None 1.000 1 2003 2003
CUI: C0302486
Disease: Erythrophagocytosis
Erythrophagocytosis 		disease Disease or Syndrome 40 0.010 None 1.000 1 2003 2003
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		disease Infections Disease or Syndrome 1256 328 0.010 None 1.000 1 2004 2004
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 1182 189 0.010 None < 0.001 1 2004 2004
CUI: C0023895
Disease: Liver diseases
Liver diseases 		group Digestive System Diseases Disease or Syndrome 1019 100 0.010 None < 0.001 1 2004 2004
CUI: C0948120
Disease: Hepatic siderosis
Hepatic siderosis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 8 1 0.010 None < 0.001 1 2004 2004
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 919 110 0.010 None < 0.001 1 2004 2004
CUI: C0085576
Disease: Iron-Refractory Iron Deficiency Anemia
Iron-Refractory Iron Deficiency Anemia 		disease Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 51 36 0.040 None 0.750 4 2005 2006
CUI: C0039730
Disease: Thalassemia
Thalassemia 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 136 18 0.010 None 1.000 1 2008 2008
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		group Nervous System Diseases Disease or Syndrome 373 95 0.010 None 1.000 1 2009 2009
CUI: C2347762
Disease: Childhood Teratoma
Childhood Teratoma 		disease Neoplasms Neoplastic Process 95 3 0.020 None 1.000 2 1 2009 2010
CUI: C1368898
Disease: Adult Teratoma
Adult Teratoma 		disease Neoplasms Neoplastic Process 93 3 0.020 None 1.000 2 1 2009 2010
CUI: C0205852
Disease: Neoplasms, Embryonal and Mixed
Neoplasms, Embryonal and Mixed 		disease Neoplasms Neoplastic Process 15 0.300 None 1.000 1 2010 2010
CUI: C0027658
Disease: Neoplasms, Germ Cell and Embryonal
Neoplasms, Germ Cell and Embryonal 		group Neoplasms Neoplastic Process 34 0.300 None 1.000 1 2010 2010
CUI: C0027654
Disease: Embryonal Neoplasm
Embryonal Neoplasm 		disease Neoplasms Neoplastic Process 57 2 0.300 None 1.000 1 2010 2010
CUI: C1720811
Disease: Tumor of Rete Testis
Tumor of Rete Testis 		disease Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process 6 0.300 None 1.000 1 2010 2010
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 670 283 0.010 None 1.000 1 2010 2010
CUI: C0740345
Disease: Germ Cell Cancer
Germ Cell Cancer 		disease Neoplasms Neoplastic Process 44 0.300 None 1.000 1 2010 2010
CUI: C0751364
Disease: Cancer, Embryonal
Cancer, Embryonal 		phenotype Neoplasms Neoplastic Process 18 0.300 None 1.000 1 2010 2010