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: C0241880
Disease: Endometriosis of pelvis
Endometriosis of pelvis 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 20 0.010 None 1.000 1 2002 2002
CUI: C0279000
Disease: Liver and Intrahepatic Biliary Tract Carcinoma
Liver and Intrahepatic Biliary Tract Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 1395 73 0.010 None 1.000 1 1998 1998
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus 		disease Digestive System Diseases; Neoplasms Neoplastic Process 468 81 0.010 None 1.000 1 1 2011 2011
CUI: C0280218
Disease: stage, bladder cancer
stage, bladder cancer 		phenotype Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 17 2 0.010 None 1.000 1 2017 2017
CUI: C0281267
Disease: bilateral breast cancer
bilateral breast cancer 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 31 17 0.010 None 1.000 1 2002 2002
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1881 283 0.010 None 1.000 1 2005 2005
CUI: C0334287
Disease: Fibrolamellar Hepatocellular Carcinoma
Fibrolamellar Hepatocellular Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 46 0.010 None 1.000 1 1998 1998
CUI: C0338831
Disease: Manic
Manic 		disease Mental Disorders Mental or Behavioral Dysfunction 166 8 0.010 None 1.000 1 2018 2018
CUI: C0342386
Disease: Follicle stimulating hormone deficiency
Follicle stimulating hormone deficiency 		disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 11 2 0.010 None 1.000 1 2005 2005
CUI: C0278877
Disease: Adult Meningioma
Adult Meningioma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 405 30 0.010 None < 0.001 1 2019 2019
CUI: C0278493
Disease: Breast cancer recurrent
Breast cancer recurrent 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 41 0.010 None 1.000 1 2018 2018
CUI: C0278487
Disease: Stage III Breast Cancer AJCC v6
Stage III Breast Cancer AJCC v6 		disease Neoplastic Process 12 1 0.010 None 1.000 1 1 2015 2015
CUI: C0242350
Disease: Erectile dysfunction
Erectile dysfunction 		disease Male Urogenital Diseases; Mental Disorders Disease or Syndrome 256 44 0.010 None 1.000 1 2019 2019
CUI: C0260037
Disease: Multiple tumors
Multiple tumors 		phenotype Neoplasms Neoplastic Process 143 12 0.010 None 1.000 1 2019 2019
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 67 3 0.010 None 1.000 1 2012 2012
CUI: C0267785
Disease: Leiomyomatosis peritonealis disseminata
Leiomyomatosis peritonealis disseminata 		disease Digestive System Diseases; Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 2 0.010 None 1.000 1 2017 2017
CUI: C0271183
Disease: Severe myopia
Severe myopia 		disease Eye Diseases Disease or Syndrome 184 116 0.010 None 1.000 1 1 2011 2011
CUI: C0271528
Disease: Isosexual precocious puberty
Isosexual precocious puberty 		phenotype Endocrine System Diseases Disease or Syndrome 5 0.010 None 1.000 1 2001 2001
CUI: C0271614
Disease: Residual ovary syndrome
Residual ovary syndrome 		disease Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 2 0.010 None 1.000 1 2019 2019
CUI: C0278485
Disease: Carcinoma breast stage I
Carcinoma breast stage I 		disease Neoplastic Process 8 0.010 None 1.000 1 2019 2019
CUI: C0342494
Disease: Adrenocortical hyperplasia
Adrenocortical hyperplasia 		disease Endocrine System Diseases Disease or Syndrome 25 0.010 None 1.000 1 2019 2019
CUI: C0342543
Disease: Central Precocious Puberty
Central Precocious Puberty 		disease Endocrine System Diseases Disease or Syndrome 32 2 0.010 None 1.000 1 2014 2014
CUI: C0342544
Disease: Idiopathic central precocious puberty
Idiopathic central precocious puberty 		disease Endocrine System Diseases Disease or Syndrome 13 5 0.010 None 1.000 1 2014 2014
CUI: C0442874
Disease: Neuropathy
Neuropathy 		group Nervous System Diseases Disease or Syndrome 484 110 0.010 None 1.000 1 2019 2019
CUI: C0474496
Disease: Diarrhea and vomiting, symptom
Diarrhea and vomiting, symptom 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 9 0.010 None 1.000 1 2018 2018