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: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.020 None 1.000 2 2018 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.020 None 1.000 2 2018 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.020 None 1.000 2 2018 2019
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2104 309 0.010 None 1.000 1 2019 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.010 None 1.000 1 2019 2019
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2346 222 0.010 None 1.000 1 2019 2019
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		phenotype Laboratory Procedure 610 1144 0.100 None 1.000 1 1 2019 2019
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2113 316 0.010 None 1.000 1 2019 2019
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2130 281 0.010 None 1.000 1 2019 2019
CUI: C0013720
Disease: Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 77 14 0.250 None 1.000 5 2001 2018
CUI: C0685938
Disease: Malignant neoplasm of gastrointestinal tract
Malignant neoplasm of gastrointestinal tract 		disease Digestive System Diseases; Neoplasms Neoplastic Process 423 55 0.010 None 1.000 1 2018 2018
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.010 None < 0.001 1 2018 2018
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		phenotype Clinical Attribute 507 1037 0.100 None 1.000 1 1 2018 2018
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.010 None 1.000 1 2018 2018
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		disease Respiratory Tract Diseases Disease or Syndrome 803 63 0.010 None 1.000 1 2018 2018
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 2018 2018
CUI: C0151544
Disease: Gastrointestinal carcinoma
Gastrointestinal carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 26 3 0.010 None 1.000 1 2018 2018
CUI: C2931384
Disease: Moyamoya disease 1
Moyamoya disease 1 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 92 50 0.100 None 1.000 1 1 2018 2018
CUI: C0026848
Disease: Myopathy
Myopathy 		group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 634 166 0.010 None < 0.001 1 2018 2018
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2969 688 0.010 None 1.000 1 2018 2018
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		phenotype Behavior and Behavior Mechanisms Individual Behavior 210 535 0.100 None 1.000 1 1 2018 2018
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 117 50 0.100 None 1.000 1 1 2018 2018
CUI: C4551497
Disease: Ehlers-Danlos syndrome kyphoscoliotic type
Ehlers-Danlos syndrome kyphoscoliotic type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 2 0.320 None 1.000 3 2001 2017
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.020 None 1.000 2 2013 2017
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		disease Musculoskeletal Diseases Disease or Syndrome 850 135 0.110 None 1.000 1 2017 2017