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 0.020 None 1.000 2 2017 2019
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1
disease Disease or Syndrome 1 8 0.600 strong 1.000 2 8 2017 2018
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.110 None 1.000 1 1 2017 2017
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2019 2019
CUI: C1305855
Disease: Body mass index
Body mass index
phenotype Clinical Attribute 1014 2689 0.100 None 1.000 1 1 2019 2019
ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT
disease Disease or Syndrome 1 2 0.400 None 1.000 1 2 2018 2018
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: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 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: C0426818
Disease: Thin rib
Thin rib
phenotype Finding 42 1 0.100 None 0
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery
phenotype Pathologic Function 32 37 0.100 None 0 1
Abnormality of temperature regulation
phenotype Finding 19 3 0.100 None 0 1
CUI: C1836150
Disease: Gait imbalance
Gait imbalance
phenotype Finding 57 24 0.100 None 0 1
CUI: C1837522
Disease: Impaired pain sensation
Impaired pain sensation
phenotype Finding 41 4 0.100 None 0 1
CUI: C1857704
Disease: Abnormal myelination
Abnormal myelination
phenotype Finding 49 1 0.100 None 0
CUI: C1867864
Disease: Poor fine motor coordination
Poor fine motor coordination
phenotype Finding 31 3 0.100 None 0 1
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0
phenotype Finding 779 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
phenotype Finding 1010 0.100 None 0
CUI: C4021217
Disease: EEG with generalized slow activity
EEG with generalized slow activity
phenotype Finding 8 6 0.100 None 0 1
CUI: C4021219
Disease: Multifocal epileptiform discharges
Multifocal epileptiform discharges
phenotype Finding 52 9 0.100 None 0
CUI: C4023687
Disease: EEG with multifocal slow activity
EEG with multifocal slow activity
phenotype Finding 41 2 0.100 None 0
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision
disease Finding 127 8 0.100 None 0
CUI: C4072903
Disease: Primary Caesarian section
Primary Caesarian section
phenotype Finding 11 15 0.100 None 0 1
CUI: C4317146
Disease: Acid reflux
Acid reflux
phenotype Finding 50 58 0.100 None 0 1