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: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 12 76 1.000 None 1.000 94 74 1987 2019
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
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 9 57 0.950 None 0.975 40 56 1988 2019
CUI: C0220743
Disease: Childhood hypophosphatasia (disorder)
Childhood hypophosphatasia (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome; Congenital Abnormality 1 17 0.930 None 1.000 13 17 1992 2019
CUI: C0025521
Disease: Inborn Errors of Metabolism
Inborn Errors of Metabolism 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome; Congenital Abnormality 119 3 0.080 None 1.000 8 2000 2019
CUI: C1840322
Disease: ODONTOHYPOPHOSPHATASIA (disorder)
ODONTOHYPOPHOSPHATASIA (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Stomatognathic Diseases Disease or Syndrome 1 4 0.610 None 1.000 7 4 1995 2015
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		disease Musculoskeletal Diseases Disease or Syndrome 710 609 0.050 None 0.800 5 3 2007 2018
CUI: C2673477
Disease: Hypophosphatasia, Perinatal Lethal
Hypophosphatasia, Perinatal Lethal 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 2 0.600 None 1.000 5 2 1995 2013
CUI: C0005940
Disease: Bone Diseases
Bone Diseases 		group Musculoskeletal Diseases Disease or Syndrome 317 10 0.050 None 1.000 5 1 2000 2019
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.450 None 1.000 5 2 1995 2016
CUI: C0005944
Disease: Metabolic Bone Disorder
Metabolic Bone Disorder 		group Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 66 1 0.330 None 1.000 4 2016 2019
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 242 99 0.030 None 1.000 3 2 2015 2019
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: C0201850
Disease: Alkaline phosphatase measurement
Alkaline phosphatase measurement 		phenotype Laboratory Procedure 42 79 0.100 None 1.000 3 3 2010 2019
CUI: C4317109
Disease: Epileptic Seizures
Epileptic Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 250 7 0.310 None 1.000 3 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: C0022658
Disease: Kidney Diseases
Kidney Diseases 		group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1180 140 0.020 None 1.000 2 2006 2018
CUI: C0022333
Disease: Jacksonian Seizure
Jacksonian Seizure 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 102 0.300 None 1.000 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: 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: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 489 123 0.210 None 1.000 2 2007 2019
CUI: C0422850
Disease: Seizures, Somatosensory
Seizures, Somatosensory 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Pathologic Function 102 0.300 None 1.000 2 1995 2016
CUI: C0023895
Disease: Liver diseases
Liver diseases 		group Digestive System Diseases Disease or Syndrome 1019 100 0.310 None 1.000 2 2007 2010
CUI: C0025286
Disease: Meningioma
Meningioma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 634 43 0.020 None 1.000 2 1999 2001
CUI: C0036690
Disease: Septicemia
Septicemia 		disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 1285 141 0.020 None 1.000 2 2017 2020