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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.100 None 1.000 11 1 2008 2017
CUI: C2677087
Disease: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5 		phenotype Finding 1 6 0.600 strong 1.000 6 6 2008 2017
CUI: C4310712
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 		disease Disease or Syndrome 1 8 0.600 None 1.000 6 8 2013 2017
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.130 None 1.000 3 1998 2018
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		disease Congenital Abnormality 99 50 0.030 None 1.000 3 2 2002 2013
CUI: C1838604
Disease: EPILEPSY, CHILDHOOD ABSENCE, 1
EPILEPSY, CHILDHOOD ABSENCE, 1 		disease Disease or Syndrome 6 5 0.400 None 1.000 3 3 2008 2017
CUI: C1305855
Disease: Body mass index
Body mass index 		phenotype Clinical Attribute 1014 2689 0.100 None 1.000 2 2 2017 2019
CUI: C0023980
Disease: Longevity
Longevity 		phenotype Temporal Concept 48 74 0.100 None 1.000 1 1 2010 2010
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		phenotype Laboratory Procedure 433 3282 0.100 None 1.000 1 25 2013 2013
CUI: C0596887
Disease: mathematical ability
mathematical ability 		phenotype Mental Process 854 2127 0.100 None 1.000 1 1 2018 2018
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.010 None 1.000 1 2002 2002
CUI: C4021813
Disease: Oral cleft
Oral cleft 		disease Congenital Abnormality 85 28 0.010 None 1.000 1 2013 2013
CUI: C0000921
Disease: Accidental Falls
Accidental Falls 		phenotype Injury or Poisoning 22 0.100 None 0
CUI: C1850601
Disease: Abnormality of brainstem morphology
Abnormality of brainstem morphology 		phenotype Finding 21 2 0.100 None 0
CUI: C1854686
Disease: Uncontrolled eye movements
Uncontrolled eye movements 		phenotype Finding 7 0.100 None 0
CUI: C1855568
Disease: Jerky head movements
Jerky head movements 		phenotype Finding 10 0.100 None 0
CUI: C4023479
Disease: EEG with focal sharp slow waves
EEG with focal sharp slow waves 		phenotype Finding 6 0.100 None 0
CUI: C4023685
Disease: EEG with spike-wave complexes (2.5-3.5 Hz)
EEG with spike-wave complexes (2.5-3.5 Hz) 		phenotype Finding 6 0.100 None 0
CUI: C4023701
Disease: Impaired visuospatial constructive cognition
Impaired visuospatial constructive cognition 		phenotype Finding 15 0.100 None 0
CUI: C0011570
Disease: Mental Depression
Mental Depression 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1478 271 0.330 None 1.000 5 1 2001 2012
CUI: C0344315
Disease: Depressed mood
Depressed mood 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1461 269 0.030 None 1.000 3 1 2001 2011
CUI: C0011253
Disease: Delusions
Delusions 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 62 15 0.020 None 1.000 2 2009 2012
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 261 78 0.110 None 1.000 1 2001 2001
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		phenotype Behavior and Behavior Mechanisms Individual Behavior 176 22 0.100 None 0
CUI: C0003467
Disease: Anxiety
Anxiety 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1048 287 0.100 None 0