Back to Search
Start Over
Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity
- Source :
- Nature genetics, vol 51, iss 1, Nature genetics
- Publication Year :
- 2019
- Publisher :
- eScholarship, University of California, 2019.
-
Abstract
- We combined de novo mutation (DNM) data from 10,927 individuals with developmental delay and autism to identify 253 candidate neurodevelopmental disease genes with an excess of missense and/or likely gene-disruptive (LGD) mutations. Of these genes, 124 reach exome-wide significance (P
- Subjects :
- ENO3
Developmental Disabilities
GRIN2B
POGZ
CASK
GATAD2B
Mice
0302 clinical medicine
ADAP1
SMARCA4
TRIO
SMARCA2
KCNH1
CTNNB1
ANP32A
Aetiology
MEF2C
ADNP
KIF1A
KCNQ2
EP300
KCNQ3
0303 health sciences
EHMT1
CNKSR2
Intracellular Signaling Peptides and Proteins
CAPN15
CREBBP
SRCAP
DLG4
MYT1L
PPP1CB
CSNK2A1
MED13L
PPP2R1A
ZBTB18
WAC
HNRNPU
STXBP1
SYNGAP1
SOX5
HECW2
NONO
Mi-2 Nucleosome Remodeling and Deacetylase Complex
ASH1L
SCN8A
AHDC1
SLC6A1
DNA Copy Number Variations
AGO4
Intellectual and Developmental Disabilities (IDD)
SMARCD1
FOXP1
USP9X
MEIS2
Article
EFTUD2
PUF60
BRAF
ANKRD11
GABRB2
03 medical and health sciences
CUL3
SMC1A
SATB2
BCL11A
Intellectual Disability
IQSEC2
Genetics
WDR26
TBL1XR1
Humans
Autistic Disorder
Polymorphism
DLX3
TCF4
MSL3
Chromosome Aberrations
TCF20
KIAA2022
EEF1A2
de novo Mutation
Chromosome
SUV420H1
DYRK1A
COL4A3BP
SETD5
CTCF
CHD3
medicine.disease
CHD2
CAPRIN1
MAP2K1
NAA10
Neurodevelopmental Disorders
HDAC8
Mutation
KDM5B
DNMT3A
SNX5
CHAMP1
HIVEP3
NAA15
030217 neurology & neurosurgery
TMEM178A
Developmental Biology
ZMYND11
PTEN
TNPO2
Autism
PTPN11
ASXL3
Medical and Health Sciences
CHD8
SYNCRIP
Gene duplication
QRICH1
Missense mutation
2.1 Biological and endogenous factors
Exome
Copy-number variation
SHANK3
Pediatric
GNAI1
WDR45
Single Nucleotide
KMT2A
Biological Sciences
PPM1D
Phenotype
MECP2
PPP2R5D
TLK2
PACS1
Genetics of Developmental Delay
DDX3X
MBD5
PACS2
FOXG1
SET
RAC1
Biotechnology
KANSL1
NFIX
SNAPC5
SETBP1
PURA
Biology
KAT6B
KAT6A
NSD1
Polymorphism, Single Nucleotide
UPF3B
medicine
TAF1
Animals
TRIP12
Gene
030304 developmental biology
ITPR1
DYNC1H1
Neurosciences
GNAO1
PIK3CA
ARID1B
Brain Disorders
LEO1
SCN2A
CDK13
Subjects
Details
- Database :
- OpenAIRE
- Journal :
- Nature genetics, vol 51, iss 1, Nature genetics
- Accession number :
- edsair.doi.dedup.....52475f0e976717c1add8cd80fc01021b