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: C0422854
Disease: Gustatory seizure
Gustatory seizure 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 102 0.300 None 1.000 2 1995 2016
CUI: C4048158
Disease: Convulsions
Convulsions 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 174 4 0.300 None 1.000 2 2 1995 2016
CUI: C0149958
Disease: Complex partial seizures
Complex partial seizures 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 140 5 0.300 None 1.000 2 1995 2016
CUI: C3495874
Disease: Nonepileptic Seizures
Nonepileptic Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 102 0.300 None 1.000 2 1995 2016
CUI: C4505436
Disease: Generalized Absence Seizures
Generalized Absence Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 102 0.300 None 1.000 2 1995 2016
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 205 8 0.300 None 1.000 2 1995 2016
CUI: C0234533
Disease: Generalized seizures
Generalized seizures 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 210 13 0.300 None 1.000 2 1995 2016
CUI: C0234535
Disease: Clonic Seizures
Clonic Seizures 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 122 0.300 None 1.000 2 1995 2016
CUI: C0751056
Disease: Non-epileptic convulsion
Non-epileptic convulsion 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 102 0.300 None 1.000 2 1995 2016
CUI: C0020503
Disease: Hyperparathyroidism, Secondary
Hyperparathyroidism, Secondary 		disease Endocrine System Diseases Disease or Syndrome 68 4 0.300 None 1.000 1 2012 2012
CUI: C0263628
Disease: Tumoral calcinosis
Tumoral calcinosis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 45 3 0.300 None 1.000 1 2011 2011
CUI: C0002382
Disease: Alveolar Bone Loss
Alveolar Bone Loss 		disease Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 101 0.300 None 1.000 1 2010 2010
CUI: C0521174
Disease: Microcalcification
Microcalcification 		phenotype Nutritional and Metabolic Diseases Pathologic Function 42 0.300 None 1.000 1 2011 2011
CUI: C0029453
Disease: Osteopenia
Osteopenia 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 845 61 0.300 None 1.000 1 2016 2016
CUI: C0086565
Disease: Liver Dysfunction
Liver Dysfunction 		phenotype Digestive System Diseases Finding 73 0.300 None 1.000 1 2010 2010
CUI: C0006663
Disease: Calcinosis
Calcinosis 		phenotype Nutritional and Metabolic Diseases Pathologic Function 52 0.300 None 1.000 1 2011 2011
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 489 123 0.210 None 1.000 2 2007 2019
CUI: C0041948
Disease: Uremia
Uremia 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 110 2 0.200 None 1.000 1 2 2008 2008
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi 		disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 190 71 0.130 None 1.000 3 2 2015 2019
CUI: C0035579
Disease: Rickets
Rickets 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 72 16 0.110 None 1.000 1 2011 2011
CUI: C0553730
Disease: Calcium pyrophosphate deposition disease
Calcium pyrophosphate deposition disease 		disease Musculoskeletal Diseases Disease or Syndrome 34 5 0.110 None 1.000 1 2007 2007
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 157 9 0.110 None 1.000 1 2016 2016
CUI: C0016663
Disease: Pathological fracture
Pathological fracture 		phenotype Wounds and Injuries Pathologic Function 35 2 0.110 None 1.000 1 2007 2007
CUI: C0003578
Disease: Apnea
Apnea 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 262 11 0.110 None 1.000 1 2011 2011
CUI: C0520739
Disease: Hereditary pyropoikilocytosis
Hereditary pyropoikilocytosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 47 23 0.100 None 0.930 43 12 2008 2019