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: 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 0.010 None 1.000 1 2010 2010
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 1598 96 0.010 None 1.000 1 2013 2013
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 22 38 0.010 None 1.000 1 2005 2005
CUI: C1691228
Disease: Cystic Kidney Diseases
Cystic Kidney Diseases 		group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 50 0.010 None 1.000 1 2007 2007
CUI: C0311245
Disease: Congenital cystic kidney disease
Congenital cystic kidney disease 		disease Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome; Congenital Abnormality 31 0.010 None 1.000 1 2007 2007
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 234 4 0.010 None 1.000 1 2013 2013
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		disease Neoplasms Neoplastic Process 1740 140 0.010 None 1.000 1 2018 2018
CUI: C0340643
Disease: Dissection of aorta
Dissection of aorta 		disease Cardiovascular Diseases Disease or Syndrome 152 16 0.010 None 1.000 1 2018 2018
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		disease Mental Disorders Mental or Behavioral Dysfunction 1071 331 0.010 None 1.000 1 2019 2019
CUI: C0398368
Disease: Lymphatic Abnormalities
Lymphatic Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Anatomical Abnormality 30 6 0.010 None 1.000 1 2017 2017
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		disease Neoplasms Neoplastic Process 2527 98 0.010 None 1.000 1 2011 2011
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
Malignant Head and Neck Neoplasm 		disease Neoplasms Neoplastic Process 767 118 0.010 None 1.000 1 2019 2019
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		disease Neoplasms Neoplastic Process 2528 98 0.010 None 1.000 1 2011 2011
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.010 None 1.000 1 2019 2019
CUI: C1319317
Disease: Squamous cell carcinoma of pharynx
Squamous cell carcinoma of pharynx 		disease Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process 14 4 0.010 None 1.000 1 2019 2019
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		disease Neoplasms Neoplastic Process 3197 186 0.010 None 1.000 1 2011 2011
CUI: C0266642
Disease: Situs ambiguus
Situs ambiguus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Congenital Abnormality 55 9 0.010 None 1.000 1 2011 2011
CUI: C0265110
Disease: Cerebral Vasospasm
Cerebral Vasospasm 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 48 3 0.010 None 1.000 1 2019 2019
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders 		group Mental or Behavioral Dysfunction 360 56 0.010 None 1.000 1 2018 2018
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 95 34 0.010 None 1.000 1 2018 2018
CUI: C0037221
Disease: Situs Inversus
Situs Inversus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 138 6 0.010 None 1.000 1 2010 2010
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 406 58 0.010 None 1.000 1 2007 2007
CUI: C3887964
Disease: POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE
POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE 		disease Disease or Syndrome 6 9 0.010 None 1.000 1 2013 2013
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 281 50 0.010 None 1.000 1 2007 2007
CUI: C4020705
Disease: Glomerulocystic kidney disease
Glomerulocystic kidney disease 		disease Disease or Syndrome 11 2 0.010 None 1.000 1 1997 1997