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: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype Behavior and Behavior Mechanisms Finding 560 192 0.100 None 0
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 300 32 0.100 None 0 1
CUI: C0497406
Disease: Overweight
Overweight 		phenotype Pathological Conditions, Signs and Symptoms Finding 27 3 0.100 None 0 1
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 59 4 0.100 None 0 1
CUI: C0234533
Disease: Generalized seizures
Generalized seizures 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 210 13 0.100 None 0 1
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		phenotype Mental Disorders Mental or Behavioral Dysfunction 508 121 0.100 None 0
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 52 7 0.100 None 0
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 74 12 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: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 1263 112 0.100 None 0 1
CUI: C0239676
Disease: High forehead
High forehead 		phenotype Finding 211 17 0.100 None 0
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 454 44 0.100 None 0
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Finding 169 17 0.100 None 0
CUI: C0426818
Disease: Thin rib
Thin rib 		phenotype Finding 42 1 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		phenotype Pathologic Function 32 37 0.100 None 0 1
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 955 164 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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 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: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 105 8 0.100 None 0 1
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