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 8 1 2006 2015
CUI: C1305855
Disease: Body mass index
Body mass index 		phenotype Clinical Attribute 1014 2689 0.100 None 1.000 2 2 2019 2019
CUI: C3553661
Disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION
CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION 		disease Disease or Syndrome 1 3 0.700 None 1.000 2 3 2012 2015
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		phenotype Laboratory Procedure 223 371 0.100 None 1.000 1 1 2016 2016
CUI: C0202177
Disease: Phospholipid measurement
Phospholipid measurement 		phenotype Laboratory Procedure 58 306 0.100 None 1.000 1 1 2013 2013
CUI: C0424574
Disease: Duration of sleep
Duration of sleep 		phenotype Finding 104 203 0.100 None 1.000 1 1 2019 2019
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		phenotype Clinical Attribute 507 1037 0.100 None 1.000 1 1 2018 2018
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		phenotype Laboratory Procedure 433 3282 0.100 None 1.000 1 1 2012 2012
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.110 None 1.000 1 2015 2015
CUI: C0561843
Disease: Memory, Episodic
Memory, Episodic 		phenotype Mental Process 2 2 0.100 None 1.000 1 1 2007 2007
CUI: C0596887
Disease: mathematical ability
mathematical ability 		phenotype Mental Process 854 2127 0.100 None 1.000 1 1 2018 2018
CUI: C0742034
Disease: cerebellar function
cerebellar function 		disease Disease or Syndrome 14 0.010 None 1.000 1 2015 2015
CUI: C1281901
Disease: Fatty acid measurement
Fatty acid measurement 		group Laboratory Procedure 50 116 0.100 None 1.000 1 1 2013 2013
CUI: C1842675
Disease: AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) 		disease Disease or Syndrome 27 67 0.100 None 1.000 1 1 2016 2016
CUI: C3542025
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE
AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE 		disease Disease or Syndrome 31 54 0.100 None 1.000 1 1 2016 2016
CUI: C3828530
Disease: Platelet Component Distribution Width Measurement
Platelet Component Distribution Width Measurement 		phenotype Laboratory Procedure 134 200 0.100 None 1.000 1 1 2016 2016
CUI: C0239234
Disease: Low set ears
Low set ears 		disease Congenital Abnormality 489 64 0.100 None 0
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		phenotype Finding 123 13 0.100 None 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		phenotype Finding 391 49 0.100 None 0
CUI: C0426421
Disease: Wide nose
Wide nose 		phenotype Finding 87 1 0.100 None 0
CUI: C1836047
Disease: Long face
Long face 		phenotype Finding 182 12 0.100 None 0
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		phenotype Finding 145 10 0.100 None 0
CUI: C1839783
Disease: Large forehead
Large forehead 		phenotype Finding 14 1 0.100 None 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype Finding 407 35 0.100 None 0
CUI: C1844505
Disease: Pointed chin
Pointed chin 		phenotype Finding 71 13 0.100 None 0