MECP2, methyl-CpG binding protein 2, 4204

N. diseases: 664; N. variants: 387
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		0.100 Biomarker disease HPO
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		0.100 CausalMutation phenotype CLINVAR
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		0.100 CausalMutation phenotype CLINVAR
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.180 GeneticVariation phenotype BEFREE In the current literature, many studies have focused their analyses on the behavioral abnormalities and cellular and molecular impairments that arise from Mecp2 mutations. 28670438 2017
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.180 GeneticVariation phenotype CLINVAR
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.180 Biomarker phenotype BEFREE Here, we report on a recurrent 0.5 Mb tandem copy number gain at distal Xq28 not including MECP2, in four male patients with nonsyndromic mild ID and behavioral problems. 24357492 2014
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.180 Biomarker phenotype BEFREE Loss of MeCP2 (Methyl CpG binding protein 2) in Rett syndrome (RTT) causes brain weight decrease, shrinkage of the cortex with reduced dendritic arborization, behavioral abnormalities, seizures and cardio-respiratory complications. 26806603 2016
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.180 Biomarker phenotype BEFREE Taken together, these data demonstrate that disruption of AT-hook 1 domain in MeCP2 caused behavioral abnormality in mice, which suggests that AT-hook 1 is a critical region for the function of MeCP2 protein. 29074463 2018
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.180 GeneticVariation phenotype BEFREE Early postnatal behavioral changes in the Mecp2-308 truncation mouse model of Rett syndrome. 19958389 2010
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.180 GeneticVariation phenotype BEFREE MECP2 mutations have also been identified in individuals with a variety of clinical syndromes, including mild learning-disability in females, neonatal encephalopathy in males, and psychiatric disorders, autism and X-linked mental retardation in both males and females. 16647848 2006
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.180 GeneticVariation phenotype BEFREE Given the ongoing large-scale whole exome and whole genome sequencing projects for psychiatric disorders, our findings suggest that rare missense variants in MECP2 be carefully evaluated for molecular consequences. 29431277 2018
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.180 GeneticVariation phenotype BEFREE We used a battery of standardised measures of behaviour and functioning to test the following hypotheses: (1) autistic behaviour is prominent throughout childhood in RTT; (2) autistic features are more salient in individuals with milder presentation; (3) severity of autistic behaviour is associated with a wider range of behavioural problems; and (4) specific MECP2 mutations are linked to more severe autistic behaviour. 21385260 2012
CUI: C4018849
Disease: Abnormal fear/anxiety-related behavior
Abnormal fear/anxiety-related behavior 		0.100 Biomarker disease HPO
CUI: C4022855
Disease: Abnormal involuntary eye movements
Abnormal involuntary eye movements 		0.100 CausalMutation disease CLINVAR
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility 		0.100 CausalMutation phenotype CLINVAR
CUI: C1839341
Disease: Abnormal T-wave
Abnormal T-wave 		0.100 Biomarker phenotype HPO
CUI: C4025670
Disease: Abnormality of chromosome segregation
Abnormality of chromosome segregation 		0.100 Biomarker phenotype HPO
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		0.100 Biomarker phenotype HPO
CUI: C4021395
Disease: Abnormality of the antihelix
Abnormality of the antihelix 		0.100 Biomarker disease HPO
CUI: C4024167
Disease: Abnormality of the antitragus
Abnormality of the antitragus 		0.100 Biomarker disease HPO
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		0.100 Biomarker phenotype HPO
CUI: C4025796
Disease: Abnormality of the fingertips
Abnormality of the fingertips 		0.100 CausalMutation disease CLINVAR
CUI: C4021785
Disease: Abnormality of the metacarpal bones
Abnormality of the metacarpal bones 		0.100 Biomarker disease HPO
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		0.010 Biomarker disease BEFREE Since absence epilepsy is infrequently observed in Rett syndrome patients, these results indicate that the predominant spontaneous electroclinical phenotype of MeCP2-deficient mice we examined does not faithfully recapitulate the most prevalent seizure types observed in affected patients. 29414525 2018
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		0.400 Biomarker phenotype HPO