Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders
0.340 Biomarker group CTD_human De novo variants in neurodevelopmental disorders with epilepsy. 29942082 2018
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders
0.340 GeneticVariation group BEFREE The purpose of this study was to evaluate the frequency of mosaicism detected by next-generation sequencing in genes associated with epilepsy-related neurodevelopmental disorders.MethodsWe conducted a retrospective analysis of 893 probands with epilepsy who had a multigene epilepsy panel or whole-exome sequencing performed in a clinical diagnostic laboratory and were positive for a pathogenic or likely pathogenic variant in one of nine genes (CDKL5, GABRA1, GABRG2, GRIN2B, KCNQ2, MECP2, PCDH19, SCN1A, or SCN2A). 28837158 2018
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders
0.340 Biomarker group CTD_human Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. 28191889 2017
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders
0.340 GeneticVariation group BEFREE Approximately 11% (8/72) of MET-interacting proteins, including SHANK3, SYNGAP1, and GRIN2B, are associated with NDDs. 27086544 2016
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders
0.340 GeneticVariation group BEFREE Here, we summarize the current reports of disease-associated variants in GRIN2B from patients with multiple neurodevelopmental disorders, and discuss implications, highlighting the importance of functional analysis and precision medicine therapies. 27818011 2016
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders
0.340 Biomarker group BEFREE We sequenced BCAs in patients with autism or related NDDs, revealing disruption of 33 loci in four general categories: (1) genes previously associated with abnormal neurodevelopment (e.g., AUTS2, FOXP1, and CDKL5), (2) single-gene contributors to microdeletion syndromes (MBD5, SATB2, EHMT1, and SNURF-SNRPN), (3) novel risk loci (e.g., CHD8, KIRREL3, and ZNF507), and (4) genes associated with later-onset psychiatric disorders (e.g., TCF4, ZNF804A, PDE10A, GRIN2B, and ANK3). 22521361 2012