rs1553749681
×
Entrez Id:
1795
Gene Symbol:
DOCK3
DOCK3
Dysmorphic features
T
0.700
GeneticVariation
CLINVAR
A de novo mutation affecting human TrkB associated with severe obesity and developmental delay.
15494731
2004
rs1553749681
×
Entrez Id:
1795
Gene Symbol:
DOCK3
DOCK3
Dysmorphic features
T
0.700
GeneticVariation
CLINVAR
UniProt: a hub for protein information.
25348405
2015
rs1553749681
×
Entrez Id:
1795
Gene Symbol:
DOCK3
DOCK3
Dysmorphic features
T
0.700
GeneticVariation
CLINVAR
Dock3 induces axonal outgrowth by stimulating membrane recruitment of the WAVE complex.
20368433
2010
rs1553749681
×
Entrez Id:
1795
Gene Symbol:
DOCK3
DOCK3
Dysmorphic features
T
0.700
GeneticVariation
CLINVAR
Brain-specific phosphorylation of MeCP2 regulates activity-dependent Bdnf transcription, dendritic growth, and spine maturation.
17046689
2006
rs1553749681
×
Entrez Id:
1795
Gene Symbol:
DOCK3
DOCK3
Dysmorphic features
T
0.700
GeneticVariation
CLINVAR
Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome.
28139846
2017
rs1553749681
×
Entrez Id:
1795
Gene Symbol:
DOCK3
DOCK3
Dysmorphic features
T
0.700
GeneticVariation
CLINVAR
Identification of an evolutionarily conserved superfamily of DOCK180-related proteins with guanine nucleotide exchange activity.
12432077
2002
rs1553749681
×
Entrez Id:
1795
Gene Symbol:
DOCK3
DOCK3
Dysmorphic features
T
0.700
GeneticVariation
CLINVAR
Dock GEFs and their therapeutic potential: neuroprotection and axon regeneration.
25016980
2014
rs1553749681
×
Entrez Id:
1795
Gene Symbol:
DOCK3
DOCK3
Dysmorphic features
T
0.700
GeneticVariation
CLINVAR
Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia.
25599672
2015
rs1553749681
×
Entrez Id:
1795
Gene Symbol:
DOCK3
DOCK3
Dysmorphic features
T
0.700
GeneticVariation
CLINVAR
A draft map of the human proteome.
24870542
2014
rs1553749681
×
Entrez Id:
1795
Gene Symbol:
DOCK3
DOCK3
Dysmorphic features
T
0.700
GeneticVariation
CLINVAR
Regulation of dendritic spine motility and stability by Rac1 and Rho kinase: evidence for two forms of spine motility.
15234347
2004
rs1553749681
×
Entrez Id:
1795
Gene Symbol:
DOCK3
DOCK3
Dysmorphic features
T
0.700
GeneticVariation
CLINVAR
Neurotrophin receptor homolog (NRH1) proteins regulate mesoderm formation and apoptosis during early Xenopus development.
17055478
2006
rs1553749681
×
Entrez Id:
1795
Gene Symbol:
DOCK3
DOCK3
Dysmorphic features
T
0.700
GeneticVariation
CLINVAR
Genome sequencing identifies major causes of severe intellectual disability.
24896178
2014
rs1553749681
×
Entrez Id:
1795
Gene Symbol:
DOCK3
DOCK3
Dysmorphic features
T
0.700
GeneticVariation
CLINVAR
Small GTPases Rac and Rho in the maintenance of dendritic spines and branches in hippocampal pyramidal neurons.
10884317
2000
rs1553749681
×
Entrez Id:
1795
Gene Symbol:
DOCK3
DOCK3
Dysmorphic features
T
0.700
GeneticVariation
CLINVAR
Isolation and characterization of novel presenilin binding protein.
10854253
2000
rs1553749681
×
Entrez Id:
1795
Gene Symbol:
DOCK3
DOCK3
Dysmorphic features
T
0.700
GeneticVariation
CLINVAR
DOCK3-related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia.
29130632
2018
rs1553749681
×
Entrez Id:
1795
Gene Symbol:
DOCK3
DOCK3
Dysmorphic features
T
0.700
GeneticVariation
CLINVAR
Biallelic loss-of-function variants in DOCK3 cause muscle hypotonia, ataxia, and intellectual disability.
28195318
2017
rs1553749681
×
Entrez Id:
1795
Gene Symbol:
DOCK3
DOCK3
Dysmorphic features
T
0.700
GeneticVariation
CLINVAR
BDNF and memory formation and storage.
17911219
2008
rs1553749681
×
Entrez Id:
1795
Gene Symbol:
DOCK3
DOCK3
Dysmorphic features
T
0.700
GeneticVariation
CLINVAR
A novel pericentric inversion of chromosome 3 cosegregates with a developmental-behavioural phenotype.
12566533
2003
rs1553749681
×
Entrez Id:
1795
Gene Symbol:
DOCK3
DOCK3
Dysmorphic features
T
0.700
GeneticVariation
CLINVAR
Loss of modifier of cell adhesion reveals a pathway leading to axonal degeneration.
19129390
2009
rs1553749681
×
Entrez Id:
1795
Gene Symbol:
DOCK3
DOCK3
Dysmorphic features
T
0.700
GeneticVariation
CLINVAR
TrkB has a cell-autonomous role in the establishment of hippocampal Schaffer collateral synapses.
15829629
2005
rs1553749681
×
Entrez Id:
1795
Gene Symbol:
DOCK3
DOCK3
Dysmorphic features
T
0.700
GeneticVariation
CLINVAR
Nonsense-mediated decay approaches the clinic.
15284851
2004
rs1553749681
×
Entrez Id:
1795
Gene Symbol:
DOCK3
DOCK3
Dysmorphic features
T
0.700
GeneticVariation
CLINVAR
Signalling mechanisms mediating neuronal responses to guidance cues.
14682358
2003
rs1553749681
×
Entrez Id:
1795
Gene Symbol:
DOCK3
DOCK3
Dysmorphic features
T
0.700
GeneticVariation
CLINVAR
Disruption of a novel member of a sodium/hydrogen exchanger family and DOCK3 is associated with an attention deficit hyperactivity disorder-like phenotype.
14569117
2003