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: C0020630
Disease: Hypophosphatasia
Hypophosphatasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 27 29 0.700 strong 1.000 119 23 1992 2020
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
CUI: C0243026
Disease: Sepsis
Sepsis 		disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 1453 144 0.020 None 1.000 2 2017 2020
CUI: C0028259
Disease: Nodule
Nodule 		phenotype Acquired Abnormality 278 19 0.010 None 1.000 1 2020 2020
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: C0005940
Disease: Bone Diseases
Bone Diseases 		group Musculoskeletal Diseases Disease or Syndrome 317 10 0.050 None 1.000 5 1 2000 2019
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: 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: 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: C0201850
Disease: Alkaline phosphatase measurement
Alkaline phosphatase measurement 		phenotype Laboratory Procedure 42 79 0.100 None 1.000 3 3 2010 2019
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 489 123 0.210 None 1.000 2 2007 2019
CUI: C0004096
Disease: Asthma
Asthma 		disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 2096 1536 0.020 None 1.000 2 2014 2019
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 1098 182 0.020 None 1.000 2 2005 2019
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		group Cardiovascular Diseases Disease or Syndrome 1756 711 0.010 None 1.000 1 2019 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2019 2019
CUI: C0028754
Disease: Obesity
Obesity 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.010 None 1.000 1 2019 2019
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2006 267 0.010 None 1.000 1 2019 2019
CUI: C2919414
Disease: Low density lipoprotein receptor mutation
Low density lipoprotein receptor mutation 		disease Disease or Syndrome 4 3 0.010 None 1.000 1 2019 2019
CUI: C0344911
Disease: Left ventricular dilatation
Left ventricular dilatation 		disease Congenital Abnormality 17 3 0.010 None 1.000 1 2019 2019
CUI: C1704421
Disease: Skin Pigmentation Disorder
Skin Pigmentation Disorder 		group Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 21 0.010 None 1.000 1 2019 2019
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.010 None 1.000 1 2019 2019