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.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 39 45 0.790 definitive 1.000 20 4 1991 2019
CUI: C3278154
Disease: GLUTARIC ACIDEMIA IIA
GLUTARIC ACIDEMIA IIA
disease Disease or Syndrome 1 3 0.400 None 1.000 1 3 2016 2016
CUI: C4505353
Disease: Diverticular Bleeding
Diverticular Bleeding
disease Digestive System Diseases Disease or Syndrome 13 0.300 None 1.000 1 2018 2018
CUI: C4317009
Disease: Diverticular Diseases
Diverticular Diseases
group Digestive System Diseases Disease or Syndrome 83 88 0.300 None 1.000 1 2018 2018
CUI: C0086743
Disease: Osteoarthrosis Deformans
Osteoarthrosis Deformans
disease Musculoskeletal Diseases Disease or Syndrome 96 1 0.300 None 1.000 1 2009 2009
Erythrocyte Mean Corpuscular Hemoglobin Test
phenotype Laboratory Procedure 13 0.300 limited 1.000 1 2016 2016
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.300 None 1.000 1 2012 2012
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
disease Musculoskeletal Diseases Disease or Syndrome 1827 247 0.300 None 1.000 1 2009 2009
Finding of Mean Corpuscular Hemoglobin
phenotype Finding 653 1206 0.300 limited 1.000 1 2016 2016
CUI: C1856403
Disease: Glutaric Aciduria IIB
Glutaric Aciduria IIB
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 3 0.300 None 0
CUI: C1856405
Disease: Glutaric Aciduria IIC
Glutaric Aciduria IIC
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 3 0.300 None 0
CUI: C1856401
Disease: Glutaric Aciduria IIA
Glutaric Aciduria IIA
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 3 0.300 None 0
CUI: C0017638
Disease: Glioma
Glioma
disease Neoplasms Neoplastic Process 3097 353 0.120 None 1.000 4 2 2015 2017
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 2723 2387 0.110 None 1.000 2 1 2013 2018
CUI: C0085136
Disease: Central Nervous System Neoplasms
Central Nervous System Neoplasms
group Neoplasms; Nervous System Diseases Neoplastic Process 180 72 0.100 None 1.000 2 2 2015 2017
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 420 42 0.100 None 0
CUI: C0020617
Disease: Hypoglycemic coma
Hypoglycemic coma
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 19 0.100 None 0
CUI: C0022346
Disease: Icterus
Icterus
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 241 17 0.100 None 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 0
CUI: C1969144
Disease: Renal cortical cysts
Renal cortical cysts
phenotype Finding 14 1 0.100 None 0
CUI: C0015695
Disease: Fatty Liver
Fatty Liver
disease Digestive System Diseases Disease or Syndrome 875 35 0.100 None 0
CUI: C0027497
Disease: Nausea
Nausea
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 161 14 0.100 None 0
CUI: C1866134
Disease: Wide anterior fontanel
Wide anterior fontanel
phenotype Finding 71 5 0.100 None 0
CUI: C1865353
Disease: Ethylmalonic aciduria
Ethylmalonic aciduria
phenotype Finding 6 0.100 None 0
CUI: C1847868
Disease: Generalized aminoaciduria
Generalized aminoaciduria
phenotype Finding 11 0.100 None 0