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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.110 None 1.000 20 4 1993 2016
CUI: C1849265
Disease: Overgrowth
Overgrowth 		phenotype Finding 103 93 0.100 None 1.000 19 1 1993 2016
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.200 None 1.000 12 6 2002 2017
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.050 None 1.000 5 2003 2016
CUI: C0947785
Disease: [D]Sleep disturbances (& [hypersomnia] or [insomnia])
[D]Sleep disturbances (& [hypersomnia] or [insomnia]) 		phenotype Sign or Symptom 69 23 0.020 None 1.000 2 2 2013 2016
CUI: C1306341
Disease: Mental handicap
Mental handicap 		disease Mental or Behavioral Dysfunction 26 1 0.020 None 1.000 2 2001 2009
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.020 None 1.000 2 2000 2012
CUI: C4285807
Disease: Behavioral and psychological symptoms of dementia
Behavioral and psychological symptoms of dementia 		phenotype Sign or Symptom 72 9 0.020 None 1.000 2 1 2014 2017
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.020 None 1.000 2 2003 2018
CUI: C0026210
Disease: Mirror Writing
Mirror Writing 		phenotype Sign or Symptom 1 0.010 None 1.000 1 2007 2007
CUI: C0233778
Disease: Synesthesia
Synesthesia 		disease Mental or Behavioral Dysfunction 2 0.010 None 1.000 1 2007 2007
CUI: C0234366
Disease: Ataxic
Ataxic 		phenotype Sign or Symptom 15 4 0.010 None 1.000 1 2 2003 2003
CUI: C0281902
Disease: maladjustment
maladjustment 		phenotype Mental or Behavioral Dysfunction 13 0.010 None 1.000 1 2005 2005
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease Disease or Syndrome 321 67 0.110 None 1.000 1 1 2015 2015
CUI: C0848771
Disease: neurological disability
neurological disability 		phenotype Sign or Symptom 18 6 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: C1096527
Disease: Mosaic trisomy 8 syndrome
Mosaic trisomy 8 syndrome 		disease Disease or Syndrome 4 0.010 None 1.000 1 2017 2017
CUI: C1515091
Disease: Surgically-Created Resection Cavity
Surgically-Created Resection Cavity 		disease Acquired Abnormality 16 3 0.010 None 1.000 1 2019 2019
CUI: C1656427
Disease: Early onset schizophrenia
Early onset schizophrenia 		disease Mental or Behavioral Dysfunction 15 3 0.010 None 1.000 1 2017 2017
CUI: C2062441
Disease: Influenza A
Influenza A 		disease Disease or Syndrome 563 19 0.010 None 1.000 1 2017 2017
CUI: C3553774
Disease: INTERSTITIAL NEPHRITIS, KARYOMEGALIC
INTERSTITIAL NEPHRITIS, KARYOMEGALIC 		disease Disease or Syndrome 9 11 0.010 None 1.000 1 2018 2018
CUI: C4551492
Disease: Micropenis
Micropenis 		disease Congenital Abnormality 32 21 0.010 None 1.000 1 2012 2012
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		disease Disease or Syndrome 271 13 0.110 None 1.000 1 2016 2016
CUI: C4707565
Disease: Bilateral polymicrogyria
Bilateral polymicrogyria 		disease Congenital Abnormality 3 0.010 None 1.000 1 2002 2002
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		phenotype Finding 218 11 0.100 None 0