Source: BEFREE ×
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: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 608 51 0.110 None 1.000 1 2010 2010
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 436 113 0.110 None 1.000 1 2013 2013
CUI: C0234132
Disease: Pyramidal sign
Pyramidal sign 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 32 5 0.110 None 1.000 1 2019 2019
CUI: C0332853
Disease: Anastomosis
Anastomosis 		disease Acquired Abnormality 155 2 0.010 None 1.000 1 2012 2012
CUI: C0333463
Disease: Senile Plaques
Senile Plaques 		disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 244 21 0.010 None 1.000 1 2004 2004
CUI: C0338455
Disease: Dementia of frontal lobe type
Dementia of frontal lobe type 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3 0.010 None 1.000 1 2001 2001
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease Mental Disorders Mental or Behavioral Dysfunction 1368 223 0.010 None 1.000 1 2019 2019
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		disease Eye Diseases Disease or Syndrome 379 207 0.010 None 1.000 1 2008 2008
CUI: C0400973
Disease: Synthetic defect of bile acids
Synthetic defect of bile acids 		disease Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 1 0.010 None 1.000 1 2019 2019
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		disease Neoplasms Neoplastic Process 2527 98 0.010 None 1.000 1 2018 2018
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		disease Neoplasms Neoplastic Process 2527 98 0.010 None 1.000 1 2018 2018
CUI: C0268689
Disease: Vitamin D-dependent rickets, type 1
Vitamin D-dependent rickets, type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome 6 2 0.010 None 1.000 1 2001 2001
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		group Nervous System Diseases Disease or Syndrome 288 90 0.010 None 1.000 1 1999 1999
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4073 1000 0.010 None 1.000 1 2017 2017
CUI: C1833118
Disease: Cataract, Pulverulent
Cataract, Pulverulent 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 7 4 0.010 None 1.000 1 2010 2010
CUI: C0235031
Disease: Neurologic Symptoms
Neurologic Symptoms 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 228 30 0.010 None 1.000 1 2010 2010
CUI: C0153452
Disease: Malignant neoplasm of gallbladder
Malignant neoplasm of gallbladder 		disease Digestive System Diseases; Neoplasms Neoplastic Process 421 65 0.010 None 1.000 1 2003 2003
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype Mental Disorders Mental or Behavioral Dysfunction 545 37 0.010 None 1.000 1 2010 2010
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		disease Neoplasms Neoplastic Process 525 65 0.010 None 1.000 1 2016 2016
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4000 995 0.010 None 1.000 1 2017 2017
CUI: C3811653
Disease: Experimental Organism Basal Cell Carcinoma
Experimental Organism Basal Cell Carcinoma 		phenotype Neoplasms Neoplastic Process 437 63 0.010 None 1.000 1 2016 2016
CUI: C3277059
Disease: Congenital Bilateral Cataracts
Congenital Bilateral Cataracts 		disease Disease or Syndrome 8 1 0.010 None 1.000 1 2019 2019
CUI: C3266262
Disease: Multiple Chronic Conditions
Multiple Chronic Conditions 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 929 42 0.010 None 1.000 1 1 2017 2017
CUI: C2936349
Disease: Plaque, Amyloid
Plaque, Amyloid 		disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 122 10 0.010 None 1.000 1 2004 2004
CUI: C2712907
Disease: obsolete Combined hyperlipidemia
obsolete Combined hyperlipidemia 		disease Disease or Syndrome 17 4 0.010 None 1.000 1 1996 1996