Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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