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 46 4 1988 2017
CUI: C4310716
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		disease Disease or Syndrome 1 28 0.700 None 1.000 22 28 1996 2017
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease Disease or Syndrome 321 67 0.200 None 1.000 10 3 1997 2012
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.050 None 1.000 5 1998 2019
CUI: C4087347
Disease: Autosomal dominant cerebellar ataxia
Autosomal dominant cerebellar ataxia 		disease Disease or Syndrome 31 2 0.050 None 1.000 5 1997 2008
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.130 None 1.000 3 4 2015 2017
CUI: C0742038
Disease: Cerebellar signs
Cerebellar signs 		phenotype Sign or Symptom 24 5 0.020 None 1.000 2 1 2001 2004
CUI: C0234366
Disease: Ataxic
Ataxic 		phenotype Sign or Symptom 15 4 0.010 None 1.000 1 2015 2015
CUI: C0270816
Disease: epilepsy and migraine
epilepsy and migraine 		disease Disease or Syndrome 7 1 0.300 strong 1.000 1 1996 1996
CUI: C0424939
Disease: Learning difficulties
Learning difficulties 		phenotype Finding 6 6 0.100 None 1.000 1 1 2015 2015
CUI: C0683322
Disease: Mental impairment
Mental impairment 		disease Mental or Behavioral Dysfunction 67 14 0.100 None 1.000 1 2 2015 2015
CUI: C0742034
Disease: cerebellar function
cerebellar function 		disease Disease or Syndrome 14 0.010 None 1.000 1 2017 2017
CUI: C0852996
Disease: Progressive cerebellar degeneration
Progressive cerebellar degeneration 		disease Disease or Syndrome 5 0.010 None 1.000 1 2000 2000
CUI: C0856636
Disease: Transient hemiparesis
Transient hemiparesis 		disease Disease or Syndrome 2 0.010 None 1.000 1 2012 2012
CUI: C1843367
Disease: Poor school performance
Poor school performance 		phenotype Finding 211 411 0.100 None 1.000 1 2 2015 2015
CUI: C4024900
Disease: Atrophy/Degeneration affecting the brainstem
Atrophy/Degeneration affecting the brainstem 		disease Disease or Syndrome 27 2 0.010 None 1.000 1 2010 2010
CUI: C4551715
Disease: Pigmentary retinopathy
Pigmentary retinopathy 		disease Disease or Syndrome 11 0.010 None 1.000 1 2003 2003
CUI: C4699189
Disease: Nonprogressive/congenital
Nonprogressive/congenital 		disease Congenital Abnormality 3 0.010 None 1.000 1 2017 2017
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		phenotype Finding 218 11 0.100 None 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		phenotype Finding 473 62 0.100 None 0
CUI: C0239676
Disease: High forehead
High forehead 		phenotype Finding 211 17 0.100 None 0
CUI: C0271390
Disease: Nystagmus, End-Position
Nystagmus, End-Position 		disease Disease or Syndrome 26 2 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0 1
CUI: C0375206
Disease: Hemiplegia/hemiparesis
Hemiplegia/hemiparesis 		disease Disease or Syndrome 112 2 0.100 None 0 1
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		phenotype Finding 391 49 0.100 None 0