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: C3280282
Disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT 		disease Disease or Syndrome 1 16 0.700 strong 1.000 11 16 2011 2017
CUI: C4693325
Disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE 		disease Disease or Syndrome 1 2 0.600 strong 1.000 3 2 2013 2017
CUI: C4693964
Disease: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS WITHOUT SEIZURES, AUTOSOMAL RECESSIVE
NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS WITHOUT SEIZURES, AUTOSOMAL RECESSIVE 		disease Disease or Syndrome 1 2 0.100 None 0 2
CUI: C4707565
Disease: Bilateral polymicrogyria
Bilateral polymicrogyria 		disease Congenital Abnormality 3 0.010 None 1.000 1 2018 2018
CUI: C1704268
Disease: Delusion of persecution
Delusion of persecution 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 4 2 0.010 None 1.000 1 2006 2006
CUI: C1864652
Disease: Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 4 18 0.010 None 1.000 1 2018 2018
CUI: C0234398
Disease: Visual Cortex Disorder
Visual Cortex Disorder 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 7 0.010 None 1.000 1 2016 2016
CUI: C0085637
Disease: Oculogyric crisis
Oculogyric crisis 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Pathologic Function 9 3 0.100 None 0
CUI: C0393786
Disease: Trigeminal Neuralgia, Idiopathic
Trigeminal Neuralgia, Idiopathic 		disease Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome 12 0.300 None 1.000 1 2016 2016
CUI: C0393787
Disease: Secondary Trigeminal Neuralgia
Secondary Trigeminal Neuralgia 		disease Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome 12 0.300 None 1.000 1 2016 2016
CUI: C0033958
Disease: Psychosis, Brief Reactive
Psychosis, Brief Reactive 		disease Mental Disorders Mental or Behavioral Dysfunction 14 0.300 None 1.000 1 2004 2004
CUI: C0746408
Disease: mass lesion
mass lesion 		phenotype Neoplastic Process 15 2 0.010 None 1.000 1 1997 1997
CUI: C0751372
Disease: Nerve Pain
Nerve Pain 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 18 0.010 None 1.000 1 2017 2017
CUI: C0036358
Disease: Schizophreniform Disorders
Schizophreniform Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 20 1 0.300 None 1.000 1 2004 2004
CUI: C0013423
Disease: Dystonia Musculorum Deformans
Dystonia Musculorum Deformans 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 26 1 0.010 None 1.000 1 1993 1993
CUI: C0036939
Disease: Shared Paranoid Disorder
Shared Paranoid Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 27 10 0.010 None < 0.001 1 2018 2018
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		phenotype Disease or Syndrome 30 25 0.100 None 0 1
CUI: C0427086
Disease: Involuntary Movements
Involuntary Movements 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 37 5 0.410 strong 1.000 2 2015 2017
CUI: C2986717
Disease: Anti-N-Methyl-D-Aspartate Receptor Encephalitis
Anti-N-Methyl-D-Aspartate Receptor Encephalitis 		disease Neoplasms; Immune System Diseases; Nervous System Diseases Disease or Syndrome 43 0.090 None 0.889 9 2012 2019
CUI: C0032051
Disease: Placental Insufficiency
Placental Insufficiency 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 45 0.200 None 1.000 1 2009 2009
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		disease Nervous System Diseases Disease or Syndrome 46 81 0.100 None 1.000 1 1 2018 2018
CUI: C0393639
Disease: Hashimoto's encephalitis
Hashimoto's encephalitis 		disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 47 0.010 None 1.000 1 2019 2019
CUI: C0234238
Disease: Ache
Ache 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 50 0.300 None 1.000 1 2008 2008
CUI: C0458257
Disease: Pain, Splitting
Pain, Splitting 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 50 0.300 None 1.000 1 2008 2008
CUI: C0458259
Disease: Pain, Crushing
Pain, Crushing 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 50 0.300 None 1.000 1 2008 2008