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.
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
disease Disease or Syndrome 2 38 0.600 strong 1.000 12 37 2010 2017
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders
group Mental or Behavioral Dysfunction 360 56 0.020 None 1.000 2 1 2014 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.020 None 1.000 2 1 2014 2018
Continuous spike and waves during slow sleep
disease Disease or Syndrome 5 2 0.120 None 1.000 2 2012 2013
CUI: C0234516
Disease: Speech dysfunction
Speech dysfunction
phenotype Mental or Behavioral Dysfunction 1 0.010 None 1.000 1 2015 2015
CUI: C0678356
Disease: alcohol effect
alcohol effect
phenotype Disease or Syndrome 13 0.010 None 1.000 1 2008 2008
CUI: C0940937
Disease: precancerous lesions
precancerous lesions
phenotype Neoplastic Process 270 19 0.010 None 1.000 1 2015 2015
CUI: C1112263
Disease: Atypical benign partial epilepsy
Atypical benign partial epilepsy
disease Disease or Syndrome 2 0.010 None 1.000 1 2018 2018
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2016 2016
CUI: C1504404
Disease: Hippocampal sclerosis
Hippocampal sclerosis
disease Disease or Syndrome 84 14 0.010 None 1.000 1 1999 1999
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 0
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype Finding 271 106 0.100 None 0 1
CUI: C0566620
Disease: Nasal voice
Nasal voice
phenotype Finding 93 3 0.100 None 0
CUI: C1847514
Disease: Postnatal microcephaly
Postnatal microcephaly
phenotype Finding 62 0.100 None 0
CUI: C1854114
Disease: Short nose
Short nose
phenotype Finding 265 23 0.100 None 0
CUI: C1857704
Disease: Abnormal myelination
Abnormal myelination
phenotype Finding 49 1 0.100 None 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype Finding 319 0.100 None 0
CUI: C1865313
Disease: Speech articulation difficulties
Speech articulation difficulties
phenotype Finding 23 3 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
phenotype Finding 1010 0.100 None 0
CUI: C3553450
Disease: Profound global developmental delay
Profound global developmental delay
disease Disease or Syndrome 58 20 0.100 None 0 1
CUI: C3806604
Disease: Infantile axial hypotonia
Infantile axial hypotonia
phenotype Finding 17 8 0.100 None 0
EEG with centrotemporal focal spike waves
phenotype Finding 5 1 0.100 None 0
CUI: C4022855
Disease: Abnormal involuntary eye movements
Abnormal involuntary eye movements
disease Anatomical Abnormality 6 2 0.100 None 0
EEG with generalized epileptiform discharges
phenotype Finding 6 4 0.100 None 0
CUI: C4023478
Disease: EEG with focal sharp waves
EEG with focal sharp waves
phenotype Finding 3 0.100 None 0