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: C0087169
Disease: Withdrawal Symptoms
Withdrawal Symptoms 		phenotype Chemically-Induced Disorders; Mental Disorders Sign or Symptom 126 10 0.300 None 1.000 1 2003 2003
CUI: C0037769
Disease: West Syndrome
West Syndrome 		disease Nervous System Diseases Disease or Syndrome 149 28 0.010 None 1.000 1 2015 2015
CUI: C0751514
Disease: Verbal Fluency Disorders
Verbal Fluency Disorders 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 3 0.300 None 1.000 1 2013 2013
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype Finding 319 0.100 None 0
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2016 2016
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
CUI: C0039273
Disease: Talipes cavus
Talipes cavus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 213 2 0.100 None 0
CUI: C0085648
Disease: Synovial Cyst
Synovial Cyst 		disease Neoplasms Disease or Syndrome 87 0.010 None 1.000 1 2018 2018
CUI: C0438696
Disease: Suicidal
Suicidal 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 93 29 0.010 None 1.000 1 2018 2018
CUI: C0038587
Disease: Substance Withdrawal Syndrome
Substance Withdrawal Syndrome 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 80 5 0.300 None 1.000 1 2003 2003
CUI: C4023014
Disease: Stereotypical hand wringing
Stereotypical hand wringing 		disease Mental Disorders Mental or Behavioral Dysfunction 8 5 0.100 None 0
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 533 12 0.230 None 1.000 4 2012 2017
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		disease Nervous System Diseases Disease or Syndrome 320 33 0.010 None 1.000 1 2008 2008
CUI: C2674218
Disease: SPHEROCYTOSIS, TYPE 1 (disorder)
SPHEROCYTOSIS, TYPE 1 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 48 16 0.010 None 1.000 1 1999 1999
CUI: C0234516
Disease: Speech dysfunction
Speech dysfunction 		phenotype Mental or Behavioral Dysfunction 1 0.010 None 1.000 1 2015 2015
CUI: C0037822
Disease: Speech Disorders
Speech Disorders 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 183 7 0.310 None 1.000 1 2013 2013
CUI: C0241210
Disease: Speech Delay
Speech Delay 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 58 11 0.300 None 1.000 1 2013 2013
CUI: C1865313
Disease: Speech articulation difficulties
Speech articulation difficulties 		phenotype Finding 23 3 0.100 None 0
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		disease Mental or Behavioral Dysfunction 165 13 0.100 None 0
CUI: C0302511
Disease: Small for gestational age fetus
Small for gestational age fetus 		phenotype Pathological Conditions, Signs and Symptoms Finding 156 0.100 None 0
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Finding 181 34 0.100 None 0
CUI: C0037315
Disease: Sleep Apnea Syndromes
Sleep Apnea Syndromes 		disease Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome 148 18 0.100 None 0
CUI: C1527336
Disease: Sjogren's Syndrome
Sjogren's Syndrome 		disease Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Stomatognathic Diseases Disease or Syndrome 481 47 0.010 None 1.000 1 2017 2017
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 1010 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0