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: C0007787
Disease: Transient Ischemic Attack
Transient Ischemic Attack 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 344 16 0.200 None 1.000 1 2003 2003
CUI: C0005587
Disease: Depression, Bipolar
Depression, Bipolar 		disease Mental Disorders Mental or Behavioral Dysfunction 116 2 0.200 None 0
CUI: C0236780
Disease: Mixed bipolar I disorder
Mixed bipolar I disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 7 0.200 None 0
CUI: C0024713
Disease: Manic Disorder
Manic Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 76 0.200 None 0
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 426 87 0.100 None 1.000 1 1 2017 2017
CUI: C0262361
Disease: Growth abnormality
Growth abnormality 		phenotype Finding 49 5 0.100 None 1.000 1 1 2017 2017
CUI: C0266015
Disease: Congenital digestive system anomalies
Congenital digestive system anomalies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 2 5 0.100 None 1.000 1 1 2017 2017
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype Behavior and Behavior Mechanisms Finding 560 192 0.100 None 1.000 1 8 2017 2017
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.100 None 1.000 1 2 2017 2017
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 1.000 1 8 2017 2017
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		disease Digestive System Diseases Disease or Syndrome 1458 827 0.100 None 1.000 1 1 2017 2017
CUI: C1843367
Disease: Poor school performance
Poor school performance 		phenotype Finding 211 411 0.100 None 1.000 1 9 2017 2017
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		phenotype Finding 64 116 0.100 None 1.000 1 2 2017 2017
CUI: C4020949
Disease: Abnormal emotion/affect behavior
Abnormal emotion/affect behavior 		phenotype Behavior and Behavior Mechanisms Pathologic Function 3 13 0.100 None 1.000 1 8 2017 2017
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		phenotype Anatomical Abnormality 31 24 0.100 None 1.000 1 4 2017 2017
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		phenotype Anatomical Abnormality 56 29 0.100 None 1.000 1 3 2017 2017
CUI: C0042063
Disease: Urogenital Abnormalities
Urogenital Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 42 3 0.100 None 1.000 1 2 2017 2017
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		disease Mental Disorders Disease or Syndrome 118 59 0.100 None 1.000 1 8 2017 2017
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 1.000 1 4 2017 2017
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		group Nervous System Diseases Disease or Syndrome 362 247 0.100 None 1.000 1 1 2017 2017
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		group Digestive System Diseases Disease or Syndrome 1577 605 0.100 None 1.000 1 1 2017 2017
CUI: C0162701
Disease: Polysomnography
Polysomnography 		phenotype Diagnostic Procedure 119 249 0.100 None 1.000 1 1 2012 2012
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		phenotype Finding 391 49 0.100 None 0
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 580 48 0.100 None 0
CUI: C1854882
Disease: Absent speech
Absent speech 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 232 72 0.100 None 0