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: C0027341
Disease: Nail-Patella Syndrome
Nail-Patella Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 38 18 1.000 None 0.937 63 17 1991 2020
CUI: C0017601
Disease: Glaucoma
Glaucoma 		disease Eye Diseases Disease or Syndrome 770 198 0.170 None 1.000 8 3 1999 2018
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1180 140 0.180 None 0.875 8 1 2000 2018
CUI: C1305855
Disease: Body mass index
Body mass index 		phenotype Clinical Attribute 1014 2689 0.100 None 1.000 7 4 2015 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		disease Nervous System Diseases Disease or Syndrome 2078 990 0.060 None 1.000 6 2001 2016
CUI: C0403548
Disease: Salcedo syndrome
Salcedo syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome 2 2 0.330 None 1.000 4 1 2013 2017
CUI: C0017612
Disease: Glaucoma, Open-Angle
Glaucoma, Open-Angle 		disease Eye Diseases Disease or Syndrome 130 236 0.130 None 1.000 4 1 1998 2018
CUI: C1834405
Disease: Nail dysplasia
Nail dysplasia 		disease Pathological Conditions, Signs and Symptoms Congenital Abnormality 78 2 0.040 None 0.750 4 2000 2017
CUI: C3279947
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 		disease Disease or Syndrome 77 1 0.030 None 0.667 3 2000 2017
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 586 125 0.020 None 0.500 2 2007 2017
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip 		disease Musculoskeletal Diseases Disease or Syndrome 164 121 0.400 None 1.000 2 2 2018 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.320 None 1.000 2 1 2010 2018
CUI: C0595921
Disease: Intraocular pressure disorder
Intraocular pressure disorder 		disease Eye Diseases Disease or Syndrome 304 56 0.020 None 1.000 2 1 2009 2018
CUI: C0040420
Disease: Tonometry
Tonometry 		phenotype Diagnostic Procedure 206 573 0.100 None 1.000 2 3 2018 2018
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		disease Eye Diseases Disease or Syndrome 383 222 0.020 None 1.000 2 2009 2012
CUI: C1853566
Disease: Genitopatellar Syndrome
Genitopatellar Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 3 10 0.020 None 1.000 2 2006 2007
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases Disease or Syndrome 424 28 0.020 None 1.000 2 1999 2007
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.010 None 1.000 1 2014 2014
CUI: C0178664
Disease: Glomerulosclerosis (disorder)
Glomerulosclerosis (disorder) 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases Disease or Syndrome 221 3 0.010 None 1.000 1 2007 2007
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		phenotype Pathological Conditions, Signs and Symptoms Neoplastic Process 3865 72 0.010 None 1.000 1 2014 2014
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus 		disease Digestive System Diseases; Neoplasms Neoplastic Process 1286 214 0.010 None 1.000 1 2019 2019
CUI: C0235831
Disease: Renal Cell Dysplasia
Renal Cell Dysplasia 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 81 3 0.010 None 1.000 1 1998 1998
CUI: C0541798
Disease: Early Awakening
Early Awakening 		phenotype Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 10 1 0.300 None 1.000 1 2010 2010
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		group Nervous System Diseases Disease or Syndrome 1515 85 0.010 None 1.000 1 2015 2015
CUI: C0393759
Disease: Transient Insomnia
Transient Insomnia 		phenotype Nervous System Diseases; Mental Disorders Sign or Symptom 4 0.300 None 1.000 1 2010 2010