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: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 251 350 0.100 None 1.000 11 1 1998 2015
CUI: C0010709
Disease: Cyst
Cyst 		disease Pathological Conditions, Signs and Symptoms; Neoplasms Disease or Syndrome 221 6 0.100 None 1.000 10 1 2000 2019
CUI: C0018099
Disease: Gout
Gout 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 205 2354 0.100 None 1.000 5 30 2010 2019
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 206 2356 0.100 None 1.000 5 30 2010 2019
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		phenotype Laboratory Procedure 264 1463 0.100 None 1.000 3 19 2009 2017
CUI: C0262655
Disease: Recurrent urinary tract infection
Recurrent urinary tract infection 		disease Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome 237 21 0.100 None 0
CUI: C1840375
Disease: Elevated diastolic blood pressure
Elevated diastolic blood pressure 		phenotype Cardiovascular Diseases Finding 14 1 0.100 None 0 1
CUI: C0700225
Disease: Serum creatinine raised
Serum creatinine raised 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 27 2 0.100 None 0
CUI: C1840374
Disease: Elevated systolic blood pressure
Elevated systolic blood pressure 		phenotype Cardiovascular Diseases Finding 14 1 0.100 None 0 1
CUI: C3714581
Disease: Multicystic Dysplastic Kidney
Multicystic Dysplastic Kidney 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 121 11 0.100 None 0 1
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.070 None 1.000 7 2006 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.070 None 1.000 7 2003 2019
CUI: C0007766
Disease: Intracranial Aneurysm
Intracranial Aneurysm 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 311 150 0.050 None 1.000 5 1995 2018
CUI: C0267834
Disease: Liver cyst
Liver cyst 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms Disease or Syndrome 26 5 0.050 None 1.000 5 1999 2017
CUI: C0334054
Disease: cystic disease
cystic disease 		disease Disease or Syndrome 19 0.040 None 1.000 4 1999 2017
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.040 None 1.000 4 2016 2019
CUI: C0022679
Disease: Cystic kidney
Cystic kidney 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 89 1 0.030 None 1.000 3 1999 2014
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.030 None 1.000 3 2016 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.030 None 1.000 3 2016 2019
CUI: C1519670
Disease: Tumor Angiogenesis
Tumor Angiogenesis 		phenotype Pathological Conditions, Signs and Symptoms Neoplastic Process 822 5 0.020 None 1.000 2 2014 2019
CUI: C0243050
Disease: Cardiovascular Abnormalities
Cardiovascular Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 99 12 0.020 None 1.000 2 2008 2018
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4388 1168 0.020 None 1.000 2 2012 2019
CUI: C0280324
Disease: Laryngeal Squamous Cell Carcinoma
Laryngeal Squamous Cell Carcinoma 		disease Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Neoplastic Process 504 30 0.020 None 1.000 2 2016 2019
CUI: C1567435
Disease: Polycystic Kidney - body part
Polycystic Kidney - body part 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Anatomical Abnormality 54 1 0.020 None 1.000 2 1998 2012
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4502 1082 0.020 None 1.000 2 2012 2019