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: C3151411
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 		disease Mental or Behavioral Dysfunction 1 21 0.700 strong 1.000 9 21 2010 2017
CUI: C4015316
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 		disease Disease or Syndrome 1 12 0.700 strong 1.000 4 12 2014 2017
CUI: C0233401
Disease: Psychiatric symptom
Psychiatric symptom 		phenotype Sign or Symptom 95 12 0.020 None 1.000 2 2001 2015
CUI: C2938905
Disease: Central Nervous System Sensitization
Central Nervous System Sensitization 		disease Disease or Syndrome 32 1 0.020 None 1.000 2 2018 2018
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		phenotype Organism Attribute 565 1138 0.100 None 1.000 1 1 2017 2017
CUI: C0424101
Disease: Inattention
Inattention 		phenotype Mental or Behavioral Dysfunction 66 22 0.010 None 1.000 1 1 2017 2017
CUI: C0426980
Disease: Motor symptoms
Motor symptoms 		phenotype Sign or Symptom 100 15 0.010 None 1.000 1 2018 2018
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		phenotype Laboratory Procedure 433 3282 0.100 None 1.000 1 1 2013 2013
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.110 None 1.000 1 2 2014 2014
CUI: C0564567
Disease: Impulsive character (finding)
Impulsive character (finding) 		phenotype Mental or Behavioral Dysfunction 52 19 0.010 None 1.000 1 2018 2018
CUI: C0596887
Disease: mathematical ability
mathematical ability 		phenotype Mental Process 854 2127 0.100 None 1.000 1 3 2018 2018
CUI: C0683322
Disease: Mental impairment
Mental impairment 		disease Mental or Behavioral Dysfunction 67 14 0.110 None 1.000 1 2 2019 2019
CUI: C0853946
Disease: Pain worsened
Pain worsened 		phenotype Sign or Symptom 3 0.010 None 1.000 1 2017 2017
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		phenotype Clinical Attribute 843 1931 0.100 None 1.000 1 1 2018 2018
CUI: C1504541
Disease: Cerebellitis
Cerebellitis 		disease Disease or Syndrome 2 0.010 None 1.000 1 2017 2017
CUI: C1656427
Disease: Early onset schizophrenia
Early onset schizophrenia 		disease Mental or Behavioral Dysfunction 15 3 0.010 None 1.000 1 2019 2019
CUI: C2699541
Disease: Cytokine Measurement
Cytokine Measurement 		phenotype Laboratory Procedure 82 123 0.100 None 1.000 1 1 2012 2012
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		disease Disease or Syndrome 247 76 0.010 None 1.000 1 2016 2016
CUI: C3850153
Disease: Ovarian Reserve
Ovarian Reserve 		phenotype Organ or Tissue Function 2 4 0.100 None 1.000 1 1 2012 2012
CUI: C3854222
Disease: Human immunodeficiency virus (HIV) II infection category B1
Human immunodeficiency virus (HIV) II infection category B1 		disease Disease or Syndrome 985 56 0.010 None 1.000 1 2003 2003
CUI: C3888788
Disease: Minimal hepatic encephalopathy
Minimal hepatic encephalopathy 		disease Disease or Syndrome 31 0.010 None 1.000 1 2017 2017
CUI: C0152421
Disease: Macrotia
Macrotia 		disease Congenital Abnormality 188 18 0.100 None 0 1
CUI: C0239676
Disease: High forehead
High forehead 		phenotype Finding 211 17 0.100 None 0 1
CUI: C0241074
Disease: Hyperextensible skin
Hyperextensible skin 		phenotype Finding 50 11 0.100 None 0 1
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype Finding 271 106 0.100 None 0 2