MECP2, methyl-CpG binding protein 2, 4204

N. diseases: 324; N. variants: 57
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation disease BEFREE Rett syndrome (RTT) is a progressive neurodevelopmental disorder mainly caused by mutations in the X-linked MECP2 gene. 31606551 2020
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation disease BEFREE Methyl-CpG-binding protein 2 (MeCP2) mutations are the primary cause of Rett syndrome, a severe neurodevelopmental disorder. 31038696 2020
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation disease BEFREE Male cases with MECP2 variants have been considered inviable, but somatic mosaicism of the variants can cause RTT in males. 31816669 2020
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation disease BEFREE We analyzed the molecular genetic variants in the gene encoding the methyl-CpG binding protein 2 (MECP2) of 16 girls with RTT. 31535341 2020
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 Biomarker disease BEFREE Systematically review the abnormalities in event related potential (ERP) recorded in Rett Syndrome (RTT) patients and animals in search of translational biomarkers of deficits related to the particular neurophysiological processes of known genetic origin (MECP2 mutations). 31812082 2020
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation disease BEFREE Our study sheds light on the relevance of the protein-regulation of main physiological process in the complex mechanisms leading from Mecp2 mutation to the RTT clinical phenotype. 31629059 2020
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 Biomarker disease BEFREE Mutations in the methyl-DNA-binding repressor protein MeCP2 cause the devastating neurodevelopmental disorder Rett syndrome. 31784358 2020
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.500 GeneticVariation group BEFREE Mutations in methyl-CpG-binding protein 2 (MECP2) in males can lead to various phenotypes, ranging from neonatal encephalopathy to intellectual disability. 31536832 2020
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.400 GeneticVariation disease BEFREE An ASD "comorbidity" can have several fundamentally-distinct causal origins: it can arise due to shared genetic risk between ASD and non-ASD phenotypes (e.g., ASD and microcephaly in the context of the MECP2 mutation), as a "secondary symptom" of ASD when engendered by the same causal influence (e.g., epilepsy in channelopathies associated with ASD), due to chance co-occurrence of ASD with a causally-independent liability (e.g., ASD and diabetes), or as the late manifestation of an independent causal influence on ASD (eg, attention-deficit/hyperactivity disorder). 31344460 2020
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.400 Biomarker group BEFREE Mutations in the methyl-DNA-binding repressor protein MeCP2 cause the devastating neurodevelopmental disorder Rett syndrome. 31784358 2020
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.400 GeneticVariation group BEFREE Methyl-CpG-binding protein 2 (MeCP2) mutations are the primary cause of Rett syndrome, a severe neurodevelopmental disorder. 31038696 2020
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.180 GeneticVariation disease BEFREE An ASD "comorbidity" can have several fundamentally-distinct causal origins: it can arise due to shared genetic risk between ASD and non-ASD phenotypes (e.g., ASD and microcephaly in the context of the MECP2 mutation), as a "secondary symptom" of ASD when engendered by the same causal influence (e.g., epilepsy in channelopathies associated with ASD), due to chance co-occurrence of ASD with a causally-independent liability (e.g., ASD and diabetes), or as the late manifestation of an independent causal influence on ASD (eg, attention-deficit/hyperactivity disorder). 31344460 2020
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.130 GeneticVariation disease BEFREE An ASD "comorbidity" can have several fundamentally-distinct causal origins: it can arise due to shared genetic risk between ASD and non-ASD phenotypes (e.g., ASD and microcephaly in the context of the MECP2 mutation), as a "secondary symptom" of ASD when engendered by the same causal influence (e.g., epilepsy in channelopathies associated with ASD), due to chance co-occurrence of ASD with a causally-independent liability (e.g., ASD and diabetes), or as the late manifestation of an independent causal influence on ASD (eg, attention-deficit/hyperactivity disorder). 31344460 2020
CUI: C0028754
Disease: Obesity
Obesity 		0.120 Biomarker disease BEFREE Together, our results suggest a novel non-CNS function of Mecp2 in obesity by suppressing browning, at least partially, through regulating adipokine Slpi. 31597640 2020
CUI: C0024530
Disease: Malaria
Malaria 		0.100 Biomarker disease BEFREE Another use could be adding mass RTS,S/AS01 vaccination to the integrated malaria elimination strategy in the Greater Mekong Subregion (GMS), where multidrug-resistant <i>P.falciparum</i> strains have emerged and spread. 31306084 2020
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.100 GeneticVariation group BEFREE Abnormalities of methyl CpG-binding protein 2 (Mecp2) cause neurological disorders with metabolic dysfunction, however, its role in adipose tissues remains unclear. 31597640 2020
CUI: C0235820
Disease: Neonatal encephalopathy
Neonatal encephalopathy 		0.100 GeneticVariation disease BEFREE Mutations in methyl-CpG-binding protein 2 (MECP2) in males can lead to various phenotypes, ranging from neonatal encephalopathy to intellectual disability. 31536832 2020
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.100 GeneticVariation disease BEFREE An ASD "comorbidity" can have several fundamentally-distinct causal origins: it can arise due to shared genetic risk between ASD and non-ASD phenotypes (e.g., ASD and microcephaly in the context of the MECP2 mutation), as a "secondary symptom" of ASD when engendered by the same causal influence (e.g., epilepsy in channelopathies associated with ASD), due to chance co-occurrence of ASD with a causally-independent liability (e.g., ASD and diabetes), or as the late manifestation of an independent causal influence on ASD (eg, attention-deficit/hyperactivity disorder). 31344460 2020
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.050 Biomarker disease BEFREE Here, the effects of adult familiarity and nature of interaction on social anxiety and social motivation were investigated in individuals with fragile X (FXS; n = 20), Cornelia de Lange (CdLS; n = 20) and Rubinstein-Taybi (RTS; n = 20) syndromes, compared to individuals with Down syndrome (DS; n = 20). 31541420 2020
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.030 Biomarker disease BEFREE Here, the effects of adult familiarity and nature of interaction on social anxiety and social motivation were investigated in individuals with fragile X (FXS; n = 20), Cornelia de Lange (CdLS; n = 20) and Rubinstein-Taybi (RTS; n = 20) syndromes, compared to individuals with Down syndrome (DS; n = 20). 31541420 2020
CUI: C0011847
Disease: Diabetes
Diabetes 		0.020 GeneticVariation disease BEFREE An ASD "comorbidity" can have several fundamentally-distinct causal origins: it can arise due to shared genetic risk between ASD and non-ASD phenotypes (e.g., ASD and microcephaly in the context of the MECP2 mutation), as a "secondary symptom" of ASD when engendered by the same causal influence (e.g., epilepsy in channelopathies associated with ASD), due to chance co-occurrence of ASD with a causally-independent liability (e.g., ASD and diabetes), or as the late manifestation of an independent causal influence on ASD (eg, attention-deficit/hyperactivity disorder). 31344460 2020
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.020 GeneticVariation group BEFREE An ASD "comorbidity" can have several fundamentally-distinct causal origins: it can arise due to shared genetic risk between ASD and non-ASD phenotypes (e.g., ASD and microcephaly in the context of the MECP2 mutation), as a "secondary symptom" of ASD when engendered by the same causal influence (e.g., epilepsy in channelopathies associated with ASD), due to chance co-occurrence of ASD with a causally-independent liability (e.g., ASD and diabetes), or as the late manifestation of an independent causal influence on ASD (eg, attention-deficit/hyperactivity disorder). 31344460 2020
CUI: C0034494
Disease: Rabies (disorder)
Rabies (disorder) 		0.020 Biomarker disease BEFREE The safety profile of RTS,S/AS01 in HIV-infected children was comparable to that of the comparator (meningococcal or rabies) vaccines. 31708182 2020
CUI: C0037052
Disease: Sick Sinus Syndrome
Sick Sinus Syndrome 		0.020 GeneticVariation disease BEFREE Two males with sick sinus syndrome in a family with 0.6 kb deletions involving major domains in MECP2. 31536832 2020
CUI: C0424166
Disease: Social Anxiety
Social Anxiety 		0.010 AlteredExpression disease BEFREE Compared to participants with DS, those with FXS and RTS exhibited high levels of social anxiety but similar levels of social motivation. 31541420 2020