Genomics

Dataset Information

0

SC_DDD-G-4

ABSTRACT: Post-QC (pre-imputation) genotype data for N=6,983 DDD probands included in the neurodevelopmental disorder discovery GWAS (Niemi et al., Nature 2018). Consists of filtered set of samples and variants from EGAD00010001598 and EGAD00010001600. Includes patient HPO phenotype terms and GWAS summary statistics (including imputed variants). Samples were genotyped on the Illumina HumanCoreExome BeadChip and Illumina InfiniumCoreExome Beadchip

PROVIDER: EGAD00010001604 | EGA |

REPOSITORIES: EGA

Json Xml
altmetric image

Publications

Here we report inherited dysregulation of protein phosphatase activity as a cause of intellectual disability (ID). De novo missense mutations in 2 subunits of serine/threonine (Ser/Thr) protein phosphatase 2A (PP2A) were identified in 16 individuals with mild to severe ID, long-lasting hypotonia, epileptic susceptibility, frontal bossing, mild hypertelorism, and downslanting palpebral fissures. PP2A comprises catalytic (C), scaffolding (A), and regulatory (B) subunits that determine subcellular  ...[more]

PMID: 26168268

Publication: 1/2

Similar Datasets

Genomics SC_DDD-G-2
| EGAD00010001600 | EGA
Genomics SC_DDD-G-1
| EGAD00010001598 | EGA
Genomics GSA bigbatch raw data
| EGAD00010002569 | EGA
Genomics GSA pilot raw data
| EGAD00010002567 | EGA
Genomics SC_DDD-G-3
| EGAD00010001602 | EGA
Genomics GSA QCed data
| EGAD00010002568 | EGA
Genomics SC_DDD-G-5
| EGAD00010001606 | EGA
Genomics Genome-wide association study on Tuberculosis in the Chinese Population
2019-06-01 | GSE83397 | GEO
Transcriptomics Digital Karyotyping for Detecting Chromosome Alterations
2017-04-03 | E-MTAB-5587 | biostudies-arrayexpress
Transcriptomics Identification of genomic loci associated with Rhodococcus equi susceptibility in foals
2014-05-10 | E-GEOD-57510 | biostudies-arrayexpress