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: C1397307
Disease: Cardiac fibrosis
Cardiac fibrosis 		disease Disease or Syndrome 297 3 0.010 None 1.000 1 2017 2017
CUI: C2931038
Disease: Pancreatic carcinoma, familial
Pancreatic carcinoma, familial 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 43 9 0.020 None 1.000 2 2016 2017
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases Disease or Syndrome 1410 80 0.020 None 1.000 2 2016 2017
CUI: C0878500
Disease: Intraepithelial Neoplasia
Intraepithelial Neoplasia 		disease Neoplasms Neoplastic Process 186 0.010 None 1.000 1 2016 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.010 None 1.000 1 2016 2016
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 241 7 0.320 None 1.000 2 2015 2019
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		phenotype Organ or Tissue Function 272 1169 0.100 None 1.000 1 1 2015 2015
CUI: C4316799
Disease: Multiple biliary hamartomas
Multiple biliary hamartomas 		disease Digestive System Diseases; Neoplasms Neoplastic Process 4 0.010 None 1.000 1 2015 2015
CUI: C0242596
Disease: Neoplasm, Residual
Neoplasm, Residual 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 329 23 0.010 None 1.000 1 2015 2015
CUI: C0008370
Disease: Cholestasis
Cholestasis 		disease Digestive System Diseases Disease or Syndrome 420 15 0.010 None 1.000 1 2015 2015
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator 		phenotype Organism Function 131 1106 0.100 None 1.000 1 3 2015 2015
CUI: C1833541
Disease: Caroli disease isolated
Caroli disease isolated 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome 1 0.300 None 1.000 2 2014 2015
CUI: C0040420
Disease: Tonometry
Tonometry 		phenotype Diagnostic Procedure 206 573 0.100 None 1.000 2 2 2014 2017
CUI: C0021888
Disease: Physiologic Intraocular Pressure
Physiologic Intraocular Pressure 		phenotype Organ or Tissue Function 3 13 0.100 None 1.000 1 1 2014 2014
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		disease Eye Diseases Disease or Syndrome 383 222 0.010 None 1.000 1 2014 2014
CUI: C0023895
Disease: Liver diseases
Liver diseases 		group Digestive System Diseases Disease or Syndrome 1019 100 0.020 None 1.000 2 2013 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.120 None 1.000 2 2012 2018
CUI: C0442872
Disease: Multiple cysts
Multiple cysts 		disease Pathological Conditions, Signs and Symptoms; Neoplasms Acquired Abnormality 3 0.010 None 1.000 1 2012 2012
CUI: C0268800
Disease: Simple renal cyst
Simple renal cyst 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 100 2 0.110 None 1.000 1 2012 2012
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.010 None 1.000 1 2011 2011
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4502 1082 0.010 None 1.000 1 2011 2011
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.310 None 1.000 1 2 2011 2011
CUI: C2931456
Disease: Prostate cancer, familial
Prostate cancer, familial 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 116 25 0.010 None 1.000 1 2011 2011
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4388 1168 0.010 None 1.000 1 2011 2011
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		disease Digestive System Diseases; Neoplasms Neoplastic Process 543 432 0.010 None 1.000 1 2011 2011