MECP2, methyl-CpG binding protein 2, 4204

N. diseases: 664; N. variants: 387
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: C0035372
Disease: Rett Syndrome
Rett Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 234 368 1.000 definitive 0.977 815 345 1975 2020
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 535 14 0.400 None 0.993 141 2000 2020
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 0.500 None 0.963 82 11 2000 2020
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		group Nervous System Diseases Disease or Syndrome 977 39 0.100 None 1.000 55 2000 2020
CUI: C0024530
Disease: Malaria
Malaria 		disease Infections Disease or Syndrome 685 148 0.100 None 1.000 42 2003 2020
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		disease Mental Disorders Mental or Behavioral Dysfunction 1071 331 0.100 None 0.974 38 2 2002 2020
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease Nervous System Diseases Disease or Syndrome 1215 339 0.400 None 0.818 22 9 2005 2020
CUI: C0235820
Disease: Neonatal encephalopathy
Neonatal encephalopathy 		disease Nervous System Diseases Disease or Syndrome 26 10 0.100 None 1.000 13 2000 2020
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.180 None 1.000 8 2001 2020
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 766 80 0.050 None 1.000 5 1 2004 2020
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 842 420 0.130 None 1.000 3 1 2009 2020
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 669 77 0.030 None 1.000 3 2008 2020
CUI: C0034494
Disease: Rabies (disorder)
Rabies (disorder) 		disease Infections Disease or Syndrome 123 0.020 None 1.000 2 2009 2020
CUI: C0011847
Disease: Diabetes
Diabetes 		disease Endocrine System Diseases Disease or Syndrome 2359 710 0.020 None 1.000 2 2017 2020
CUI: C0037052
Disease: Sick Sinus Syndrome
Sick Sinus Syndrome 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 51 7 0.020 None 1.000 2 2018 2020
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.020 None 1.000 2 2017 2020
CUI: C0028754
Disease: Obesity
Obesity 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.120 None 0.500 2 2019 2020
CUI: C0424166
Disease: Social Anxiety
Social Anxiety 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 57 6 0.010 None 1.000 1 2020 2020
CUI: C1720983
Disease: Channelopathies
Channelopathies 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 94 8 0.010 None 1.000 1 2020 2020
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1112 395 0.500 None 0.919 62 3 2000 2019
CUI: C1846058
Disease: Lubs X-linked mental retardation syndrome
Lubs X-linked mental retardation syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Mental or Behavioral Dysfunction 11 8 0.800 strong 1.000 31 8 1999 2019
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 141 13 0.100 None 0.935 31 2 2000 2019
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.500 None 0.923 26 11 2000 2019
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		group Mental Disorders Mental or Behavioral Dysfunction 328 49 0.400 None 1.000 16 1 2002 2019
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		group Mental Disorders Mental or Behavioral Dysfunction 355 19 0.380 None 1.000 9 2003 2019