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: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms
disease Nervous System Diseases Disease or Syndrome 53 122 0.100 None 1.000 4 1 2016 2017
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease Nervous System Diseases Disease or Syndrome 187 126 0.030 None 1.000 3 2017 2018
CUI: C0085584
Disease: Encephalopathies
Encephalopathies
group Nervous System Diseases Disease or Syndrome 457 64 0.130 None 1.000 3 1 2016 2018
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44
disease Disease or Syndrome 2 13 0.700 None 1.000 2 13 2016 2016
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders Disease or Syndrome 166 122 0.110 None 1.000 1 3 2018 2018
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 2667 277 0.010 None 1.000 1 2017 2017
CUI: C0027765
Disease: nervous system disorder
nervous system disorder
group Nervous System Diseases Disease or Syndrome 977 39 0.010 None 1.000 1 1 2016 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.010 None 1.000 1 2014 2014
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
phenotype Laboratory Procedure 1156 2575 0.100 None 1.000 1 1 2018 2018
CUI: C3658290
Disease: Drug-Induced Acute Liver Injury
Drug-Induced Acute Liver Injury
disease Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 413 0.300 None 1.000 1 2016 2016
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.110 None 1.000 1 2018 2018
CUI: C0023418
Disease: leukemia
leukemia
disease Neoplasms Neoplastic Process 2111 144 0.010 None 1.000 1 2019 2019
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy
disease Nervous System Diseases Disease or Syndrome 184 35 0.010 None 1.000 1 2016 2016
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.110 None 1.000 1 2016 2016
CUI: C3887638
Disease: Failure to thrive in infant
Failure to thrive in infant
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 81 4 0.010 None 1.000 1 2018 2018
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
phenotype Pathological Conditions, Signs and Symptoms Neoplastic Process 3865 72 0.010 None 1.000 1 2019 2019
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 2689 322 0.010 None 1.000 1 2017 2017
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
disease Neoplasms Neoplastic Process 1740 140 0.010 None 1.000 1 2019 2019
Iron binding capacity total measurement
phenotype Laboratory Procedure 20 35 0.100 None 1.000 1 1 2017 2017
CUI: C0683322
Disease: Mental impairment
Mental impairment
disease Mental or Behavioral Dysfunction 67 14 0.010 None 1.000 1 2016 2016
CUI: C0037769
Disease: West Syndrome
West Syndrome
disease Nervous System Diseases Disease or Syndrome 149 28 0.010 None 1.000 1 2018 2018
CUI: C1262760
Disease: Hepatitis, Drug-Induced
Hepatitis, Drug-Induced
disease Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 418 0.300 None 1.000 1 2016 2016
CUI: C0022602
Disease: Actinic keratosis
Actinic keratosis
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 136 10 0.010 None 1.000 1 2018 2018
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 316 42 0.110 None 1.000 1 2016 2016
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura
disease Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 198 59 0.010 None 1.000 1 2018 2018