MECP2, methyl-CpG binding protein 2, 4204

N. diseases: 324; N. variants: 57
Source: BEFREE ×
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 228 54 1.000 definitive 0.977 726 35 1975 2020
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 864 217 0.500 None 0.919 61 2000 2019
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 493 62 0.200 None 0.957 47 8 2000 2013
CUI: C0024530
Disease: Malaria
Malaria 		disease Infections Disease or Syndrome 658 90 0.100 None 1.000 42 2003 2020
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		disease Mental Disorders Mental or Behavioral Dysfunction 1018 256 0.100 None 0.974 38 2 2002 2020
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 128 13 0.100 None 0.935 30 2 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 0.800 strong 1.000 27 1999 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease Nervous System Diseases Disease or Syndrome 1124 250 0.400 None 0.818 20 9 2005 2020
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 161 14 0.200 None 1.000 15 2 2000 2018
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 1686 635 0.500 None 1.000 13 6 2008 2018
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: C2748910
Disease: Rett Syndrome, Atypical
Rett Syndrome, Atypical 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 9 5 0.200 None 0.923 13 5 2001 2018
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 90 0.500 strong 0.917 12 2001 2014
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 608 51 0.200 None 1.000 12 1 2002 2017
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		disease Digestive System Diseases; Neoplasms Neoplastic Process 3687 603 0.080 None 1.000 8 2004 2018
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 3708 616 0.080 None 1.000 8 2004 2018
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		disease Neoplasms Neoplastic Process 2469 234 0.070 None 1.000 7 2007 2019
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 2419 231 0.070 None 1.000 7 2007 2019
CUI: C0751265
Disease: Learning Disabilities
Learning Disabilities 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 76 3 0.370 None 1.000 7 2000 2016
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 38 2 0.170 None 1.000 7 2003 2019
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		disease Neoplasms Neoplastic Process 2420 231 0.070 None 1.000 7 2007 2019
CUI: C4543807
Disease: Clinical malaria
Clinical malaria 		disease Infections Disease or Syndrome 37 3 0.070 None 0.857 7 2007 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6481 2154 0.060 None 1.000 6 2002 2013
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		disease Digestive System Diseases; Infections Disease or Syndrome 1382 269 0.060 None 0.833 6 2003 2018
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 358 27 0.180 None 1.000 6 2001 2020