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: 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
CUI: C1720983
Disease: Channelopathies
Channelopathies
0.010 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: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix
0.010 Biomarker disease BEFREE We found that the expression levels of MBD2 and MeCP2 were significantly reduced in cervical cancer samples as detected by the analysis of MeCP2 in matched tumor-normal samples of patients with cervical cancer, indicating a reduction in a significant percentage of patients. 31114989 2019
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions
0.010 Biomarker disease BEFREE The incidence of febrile convulsions in children was higher during the first 2-3 days post-vaccination with RTS,S/AS01 than with control vaccine, consistent with the time window of post-vaccination febrile reactions in this study (mostly the day after vaccination). 31012786 2019
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.010 Biomarker disease BEFREE We found that MECP2 regulates the DNA repair Fanconi anemia pathway in HSCs. 31352003 2019
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
0.010 Biomarker group BEFREE ConvNetACh then successfully detected impairments in all ASD mouse models tested except in MeCP2-rescued mice. 31332003 2019
CUI: C0019360
Disease: Herpes zoster disease
Herpes zoster disease
0.010 Biomarker group BEFREE The most advanced phase III clinical applications led to the development of two vaccines containing QS-21 as part of the AS, the Herpes Zoster vaccine (HZ/su) (Shingrix™) which received a license in 2017 from the FDA and a marketing authorization in the EU in 2018 and the RTS,S/AS01 vaccine (Mosquirix™) against malaria, which was approved by the EMA in 2015 for further implementation in Sub-Saharan countries for routine use. 31182297 2019
CUI: C0019693
Disease: HIV Infections
HIV Infections
0.010 AlteredExpression group BEFREE Molecular analysis showed that H3K27me3, Ezh2, MeCP2, and Tat all exhibited a similar bimodal expression kinetics in the course of HIV infection and latency in astrocytes, although H3K27me3, Ezh2, and MeCP2 were expressed higher in Tat-expressing astrocytes and their expression were peaked immediately preceding Tat expression. 31020497 2019
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease
0.010 Biomarker disease BEFREE CACNA2D2 (α2δ2 subunit of voltage-gated calcium channels) and MECP2 (methyl-CpG binding protein 2) mRNA and protein showed an excellent neural function biomarker signature (AUC ≥ 0,925) for recognition of MSUD. 31235756 2019
CUI: C0038436
Disease: Post-Traumatic Stress Disorder
Post-Traumatic Stress Disorder
0.010 Biomarker disease BEFREE Fluoxetine improved PTSD-like symptoms in trauma-exposed MeCP2-308 mice. 31175878 2019
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids
0.010 Biomarker group BEFREE Neither the mRNA nor the protein levels of the other MBD members (MBD1, MBD3, MBD4, MBD5, and MeCP2) showed any significant differences between ULs and the adjacent myometria. 31313936 2019
CUI: C0266463
Disease: Lissencephaly
Lissencephaly
0.010 Biomarker disease BEFREE Interplay of LIS1 and MeCP2: Interactions and Implications With the Neurodevelopmental Disorders Lissencephaly and Rett Syndrome. 31474834 2019
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma
0.010 Biomarker disease BEFREE We found that the expression levels of MBD2 and MeCP2 were significantly reduced in cervical cancer samples as detected by the analysis of MeCP2 in matched tumor-normal samples of patients with cervical cancer, indicating a reduction in a significant percentage of patients. 31114989 2019
CUI: C0853897
Disease: Diabetic Cardiomyopathies
Diabetic Cardiomyopathies
0.010 Biomarker disease BEFREE MeCP2 triggers diabetic cardiomyopathy and cardiac fibroblast proliferation by inhibiting RASSF1A. 31398393 2019
CUI: C0948391
Disease: Convulsion in childhood
Convulsion in childhood
0.010 Biomarker phenotype BEFREE The incidence of febrile convulsions in children was higher during the first 2-3 days post-vaccination with RTS,S/AS01 than with control vaccine, consistent with the time window of post-vaccination febrile reactions in this study (mostly the day after vaccination). 31012786 2019
CUI: C1136033
Disease: Cutaneous Mastocytosis
Cutaneous Mastocytosis
0.010 Biomarker disease BEFREE The observed meningitis and CM signals are considered likely chance findings, that - given their severity - warrant further evaluation in phase IV studies and WHO-led pilot implementation programs to establish the RTS,S/AS01 benefit-risk profile in real-life settings. 31012786 2019
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.010 Biomarker disease BEFREE In this study, we employed streptozotocin (STZ)-induced rats DCM and DCM patient and found that MeCP2 triggers cardiac fibroblast proliferation in DCM by inhibiting of RASSF1A expression. 31398393 2019
CUI: C1515091
Disease: Surgically-Created Resection Cavity
Surgically-Created Resection Cavity
0.010 Biomarker disease BEFREE Resection cavity walls were injected (day 0) with a fixed dose of the hIL-12 vector (Ad-RTS-hIL-12). 31413142 2019
CUI: C1862389
Disease: ATRIAL SEPTAL DEFECT 1
ATRIAL SEPTAL DEFECT 1
0.010 Biomarker disease BEFREE ConvNetACh then successfully detected impairments in all ASD mouse models tested except in MeCP2-rescued mice. 31332003 2019
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5
0.010 Biomarker disease BEFREE The median age of Indigenous people who developed ESKF was ~ 30 years less than for non-Indigenous people, and 84% of them received RTT, while only half of non-Indigenous people with ESKF did so. 31426912 2019
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
0.010 Biomarker disease BEFREE We found that MECP2 regulates the DNA repair Fanconi anemia pathway in HSCs. 31352003 2019
CUI: C4048328
Disease: cervical cancer
cervical cancer
0.010 Biomarker disease BEFREE We found that the expression levels of MBD2 and MeCP2 were significantly reduced in cervical cancer samples as detected by the analysis of MeCP2 in matched tumor-normal samples of patients with cervical cancer, indicating a reduction in a significant percentage of patients. 31114989 2019
CUI: C0003864
Disease: Arthritis
Arthritis
0.010 GeneticVariation disease BEFREE Considering the involvement of genetic polymorphisms of MECP2 gene in susceptibility to adult-onset RA, this gene might basically play a role in the initiation of arthritis during early stages of life. 29288368 2018
CUI: C0004698
Disease: Balkan Nephropathy
Balkan Nephropathy
0.010 Biomarker disease BEFREE Because modest nuclear enlargement of kidney tubule cells can occur as physiological or functional responses, it is recommended that the threshold for diagnosing renal tubule karyomegaly in animal studies should be accepted as at least four times normal nuclear size or larger.Abbreviations: BEN: Balkan Endemic Nephropathy; DMN: dimethylnitrosamine; GLP: Good Laboratory Practice; KIN: karyomegalic interstitial nephritis; LAL: lysinoalanine; MeCCNU: 1-(2-chloroethyl)-3-(trans-4-methylcyclohexyl)-1-nitrosourea; NTP: National Toxicology Program; OSOM: outer stripe of outer medulla; OTA: ochratoxin A; RTT: renal tubule tumor. 30277423 2018
CUI: C0005699
Disease: Blast Phase
Blast Phase
0.010 AlteredExpression disease BEFREE Patients in accelerated phase CML (CML-AP) and blast phase CML (CML-BP) showed lower expressions of MEG3 and miR-147 and higher expressions of DNMT1, DNMT3B, MBD2, MECP2 and HDAC1 compared to the controls. 30072211 2018