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.
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44
disease Disease or Syndrome 2 13 0.700 None 1.000 2 13 2016 2016
CUI: C0683322
Disease: Mental impairment
Mental impairment
disease Mental or Behavioral Dysfunction 67 14 0.010 None 1.000 1 2016 2016
Total iron binding capacity function
phenotype Clinical Attribute 20 35 0.100 None 1.000 1 1 2017 2017
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease Disease or Syndrome 321 67 0.110 None 1.000 1 2018 2018
Iron binding capacity total measurement
phenotype Laboratory Procedure 20 35 0.100 None 1.000 1 1 2017 2017
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
phenotype Laboratory Procedure 1156 2575 0.100 None 1.000 1 1 2018 2018
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24
disease Disease or Syndrome 2 3 0.600 strong 1.000 1 3 2016 2016
CUI: C0231274
Disease: Intolerant of heat
Intolerant of heat
phenotype Pathologic Function 19 7 0.100 None 0 2
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype Finding 473 62 0.100 None 0
CUI: C0239174
Disease: Late tooth eruption
Late tooth eruption
phenotype Finding 139 4 0.100 None 0 2
CUI: C0239676
Disease: High forehead
High forehead
phenotype Finding 211 17 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 0 2
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure
phenotype Finding 391 49 0.100 None 0
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding)
phenotype Finding 91 19 0.100 None 0 2
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear
disease Congenital Abnormality 176 23 0.100 None 0 2
CUI: C0454641
Disease: Expressive language delay
Expressive language delay
phenotype Disease or Syndrome 30 25 0.100 None 0 2
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery
phenotype Pathologic Function 32 37 0.100 None 0 2
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0 2
CUI: C1456852
Disease: Ventouse delivery (finding)
Ventouse delivery (finding)
phenotype Finding 3 3 0.100 None 0 2
CUI: C1740801
Disease: Exaggerated startle response
Exaggerated startle response
phenotype Finding 18 4 0.100 None 0 2
CUI: C1839767
Disease: Tented upper lip vermilion
Tented upper lip vermilion
phenotype Finding 79 8 0.100 None 0 2
CUI: C1845274
Disease: Abnormal conjugate eye movement
Abnormal conjugate eye movement
phenotype Finding 7 5 0.100 None 0 2
CUI: C1847514
Disease: Postnatal microcephaly
Postnatal microcephaly
phenotype Finding 62 0.100 None 0
CUI: C1849043
Disease: Soft, doughy skin
Soft, doughy skin
phenotype Finding 11 4 0.100 None 0 2
CUI: C1857704
Disease: Abnormal myelination
Abnormal myelination
phenotype Finding 49 1 0.100 None 0