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: C1968556
Disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 0.720 strong 1.000 2 1975 2018
CUI: C2931847
Disease: Type I familial incomplete male pseudohermaphroditism
Type I familial incomplete male pseudohermaphroditism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 1 0.020 None 1.000 2 2010 2013
CUI: C3713418
Disease: Ppm-X Syndrome
Ppm-X Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 0.320 None 1.000 2 2002 2016
CUI: C0026210
Disease: Mirror Writing
Mirror Writing 		phenotype Sign or Symptom 1 0.010 None 1.000 1 2007 2007
CUI: C1839332
Disease: Rett Syndrome, Preserved Speech Variant
Rett Syndrome, Preserved Speech Variant 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 0.010 None 1.000 1 2009 2009
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 1 0.010 None 1.000 1 1 2002 2002
CUI: C0233778
Disease: Synesthesia
Synesthesia 		disease Mental or Behavioral Dysfunction 2 0.010 None 1.000 1 2007 2007
CUI: C4024917
Disease: Congenital encephalopathy
Congenital encephalopathy 		disease Nervous System Diseases Congenital Abnormality 3 0.020 None 1.000 2 2002 2019
CUI: C4707565
Disease: Bilateral polymicrogyria
Bilateral polymicrogyria 		disease Congenital Abnormality 3 0.010 None 1.000 1 2002 2002
CUI: C0220775
Disease: RUSSELL-SILVER SYNDROME, X-LINKED
RUSSELL-SILVER SYNDROME, X-LINKED 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 4 0.010 None 1.000 1 2013 2013
CUI: C0340486
Disease: Induced ventricular tachycardia
Induced ventricular tachycardia 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 4 0.010 None 1.000 1 2011 2011
CUI: C0796250
Disease: PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME
PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 4 0.010 None 1.000 1 2013 2013
CUI: C1096527
Disease: Mosaic trisomy 8 syndrome
Mosaic trisomy 8 syndrome 		disease Disease or Syndrome 4 0.010 None 1.000 1 2017 2017
CUI: C0342474
Disease: Lipoid congenital adrenal hyperplasia
Lipoid congenital adrenal hyperplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 5 7 0.010 None 1.000 1 2007 2007
CUI: C0796022
Disease: Lujan Fryns syndrome
Lujan Fryns syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 5 1 0.010 None 1.000 1 2017 2017
CUI: C0948391
Disease: Convulsion in childhood
Convulsion in childhood 		phenotype Sign or Symptom 5 0.010 None 1.000 1 2019 2019
CUI: C0795940
Disease: Filippi syndrome
Filippi syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 6 0.010 None 1.000 1 2016 2016
CUI: C2678194
Disease: Mental Retardation, X-Linked, Syndromic, Christianson Type
Mental Retardation, X-Linked, Syndromic, Christianson Type 		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 6 1 0.010 None 1.000 1 2014 2014
CUI: C0023882
Disease: Little's Disease
Little's Disease 		disease Nervous System Diseases Disease or Syndrome 7 0.010 None 1.000 1 2013 2013
CUI: C0175713
Disease: Aicardi's syndrome
Aicardi's syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 7 0.010 None < 0.001 1 2010 2010
CUI: C0231796
Disease: respiratory abnormalities
respiratory abnormalities 		phenotype Respiratory Tract Diseases Sign or Symptom 7 1 0.010 None 1.000 1 2014 2014
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 7 1 0.010 None 1.000 1 2002 2002
CUI: C0392777
Disease: Poikiloderma
Poikiloderma 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 7 1 0.010 None 1.000 1 2010 2010
CUI: C0349251
Disease: Behavioral syndrome associated with physiological disturbance and physical factors
Behavioral syndrome associated with physiological disturbance and physical factors 		disease Mental Disorders Mental or Behavioral Dysfunction 8 2 0.010 None 1.000 1 2010 2010
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