×
Entrez Id:
26115
Gene Symbol:
TANC2
TANC2
0.510
Biomarker
group
GENOMICS_ENGLAND
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.
31616000
2019
×
Entrez Id:
26115
Gene Symbol:
TANC2
TANC2
0.510
Biomarker
group
BEFREE
Recent studies indicated TANC1 and TANC2 are candidate genes of several neurodevelopmental disorders (NDD ).
31040020
2019
×
Entrez Id:
26115
Gene Symbol:
TANC2
TANC2
0.510
Biomarker
group
CTD_human
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.
28191889
2017
×
Entrez Id:
10716
Gene Symbol:
TBR1
TBR1
0.410
GeneticVariation
group
BEFREE
Our findings enhance understanding of molecular functions of TBR1 , as well as highlighting the importance of functional testing of variants that emerge from next-generation sequencing, to decipher their contributions to neurodevelopmental disorders like ASD.
30250039
2018
×
Entrez Id:
10716
Gene Symbol:
TBR1
TBR1
0.410
Biomarker
group
CTD_human
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.
28191889
2017
×
Entrez Id:
10716
Gene Symbol:
TBR1
TBR1
0.410
GeneticVariation
group
CLINVAR
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
0.400
Biomarker
group
BEFREE
Mutations in the methyl-DNA-binding repressor protein MeCP2 cause the devastating neurodevelopmental disorder Rett syndrome.
31784358
2020
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
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
×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
0.400
GeneticVariation
group
BEFREE
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5 ) gene cause a severe neurodevelopmental disorder , CDKL5 deficiency disorder (CDD).
31469994
2020
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
0.400
Biomarker
group
BEFREE
We compared the protein cargo and signaling bioactivity of exosomes released by hiPSC-derived neural cultures lacking MECP2 , a model of the neurodevelopmental disorder Rett syndrome, with exosomes released by isogenic rescue control neural cultures.
31320591
2019
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
0.400
GeneticVariation
group
BEFREE
With the recent 50th anniversary of the first publication on Rett syndrome, and the almost 20 years since the first report on the link between Rett syndrome and MECP2 mutations, it is important to reflect on the tremendous advances in our understanding and their implications for the diagnosis and treatment of this neurodevelopmental disorder .
30649225
2019
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
0.400
GeneticVariation
group
BEFREE
Mutations in the X-linked gene MECP2 are associated with a severe neurodevelopmental disorder , Rett syndrome (RTT), primarily in girls.
30536762
2019
×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
0.400
GeneticVariation
group
BEFREE
Cyclin-dependent kinase-like 5 (CDKL5 ) is a serine/threonine protein kinase, with its gene mutation leading to a neurodevelopmental disorder .
30447183
2019
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
0.400
Biomarker
group
BEFREE
Interplay of LIS1 and MeCP2 : Interactions and Implications With the Neurodevelopmental Disorders Lissencephaly and Rett Syndrome.
31474834
2019
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
0.400
GeneticVariation
group
BEFREE
Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutation in the X-linked MECP2 gene.
31299345
2019
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
0.400
GeneticVariation
group
BEFREE
Mutations in the MECP2 gene are the main cause of Rett syndrome (RTT), a pervasive neurodevelopmental disorder , that shows also multisystem disturbances associated with a metabolic component.
30743046
2019
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
0.400
GeneticVariation
group
BEFREE
Rett syndrome (RTT) is a rare neurodevelopmental disorder mainly affecting females and is caused by a mutation in the MECP2 gene.
31074665
2019
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
0.400
GeneticVariation
group
BEFREE
Accordingly, MeCP2 loss- or gain-of-function mutation causes neurodevelopmental disorders , including Rett syndrome (RTT), <i>MECP2</i> duplication syndrome (MDS), and autism spectrum disorders (ASD).
31013990
2019
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
0.400
AlteredExpression
group
BEFREE
Remarkably, abnormal levels of MeCP2 have been associated to other neurodevelopmental disorders , as well as neuropsychiatric disorders.
31333414
2019
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
0.400
GeneticVariation
group
BEFREE
Rett syndrome (RTT) is a monogenic neurodevelopmental disorder caused by mutations in the methyl-CpG binding protein 2 (MECP2 ) gene.
30430747
2019
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
0.400
GeneticVariation
group
BEFREE
© 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Altered expressions of the methyl-CpG-binding protein 2 (MECP2 ) gene are usually associated with neurodevelopmental disorders , such as autism spectrum disorders, Rett syndrome (RTT), and so forth.
31389199
2019
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
0.400
GeneticVariation
group
BEFREE
Rett syndrome is a complex neurodevelopmental disorder that is mainly caused by mutations in MECP2 .
30539330
2019
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
0.400
GeneticVariation
group
BEFREE
Rett syndrome (RTT) is a postnatal neurodevelopmental disorder that primarily affects girls, with 95% of RTT cases resulting from mutations in the methyl-CpG-binding protein 2 (MECP2 ) gene.
30220058
2019
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
0.400
GeneticVariation
group
BEFREE
Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the Methyl CpG binding protein 2 (MeCP2 ) gene.
30905360
2019
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
0.400
GeneticVariation
group
BEFREE
Rett Syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the Methyl CpG binding protein 2 (MECP2 ) gene.
31796123
2019