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: C0035372
Disease: Rett Syndrome
Rett Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 128 293 1.000 definitive 0.954 614 284 1966 2018
CUI: C2748910
Disease: Rett Syndrome, Atypical
Rett Syndrome, Atypical
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 7 78 0.800 definitive 0.917 42 36 1999 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.700 strong 0.944 72 4 1999 2017
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 20 0.700 37 20 1999 2017
Lubs X-linked mental retardation syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Mental or Behavioral Dysfunction 7 3 0.700 1.000 15 3 2009 2017
CUI: C2677682
Disease: Rett Syndrome, Zappella Variant
Rett Syndrome, Zappella Variant
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 36 0.600 definitive 33 36 1999 2018
Mental Retardation, X-Linked, Syndromic 13
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 30 0.600 18 30 1997 2017
Rett Syndrome, Preserved Speech Variant
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 35 0.510 definitive 1.000 33 35 1999 2018
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
group Mental Disorders Mental or Behavioral Dysfunction 676 237 0.500 0.921 64 2 2000 2017
CUI: C0036572
Disease: Seizures
Seizures
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 1173 165 0.500 0.938 19 5 2002 2016
CUI: C0270824
Disease: Visual seizure
Visual seizure
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 206 0.500 2 2002 2010
CUI: C3714043
Disease: Trisomy Xq28
Trisomy Xq28
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 0.500 0
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders
group Mental Disorders Mental or Behavioral Dysfunction 207 1 0.400 0.984 64 1999 2018
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder
group Mental Disorders Mental or Behavioral Dysfunction 128 13 0.400 1.000 12 2003 2013
CUI: C0917816
Disease: Mental deficiency
Mental deficiency
disease Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 1031 0.400 2 2010 2010
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation
disease Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 195 2 0.400 2 2010 2010
CUI: C0027066
Disease: Myoclonus
Myoclonus
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 153 11 0.400 1 2009 2009
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency
phenotype Respiratory Tract Diseases Pathologic Function 181 5 0.400 1 2009 2009
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities
group Mental Disorders Mental or Behavioral Dysfunction 169 7 0.360 1.000 7 2000 2015
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 234 3 0.350 strong 1.000 5 1999 2010
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders
group Mental Disorders Mental or Behavioral Dysfunction 395 79 0.330 1.000 4 2012 2016
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 3592 419 0.330 1.000 3 2001 2015
CUI: C0751265
Disease: Learning Disabilities
Learning Disabilities
disease Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 71 2 0.320 1.000 3 2001 2010
CUI: C1968551
Disease: Mental Retardation, X-Linked 79
Mental Retardation, X-Linked 79
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 8 0.310 1.000 10 8 2000 2007
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
disease Respiratory Tract Diseases Disease or Syndrome 431 13 0.310 1.000 2 2011 2014