Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553749681
rs1553749681
DOCK3
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 GeneticVariation CLINVAR DOCK3-related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia. 29130632

2018
dbSNP: rs1553749681
rs1553749681
DOCK3
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome. 28139846

2017
dbSNP: rs1553749681
rs1553749681
DOCK3
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Biallelic loss-of-function variants in DOCK3 cause muscle hypotonia, ataxia, and intellectual disability. 28195318

2017
dbSNP: rs1553749681
rs1553749681
DOCK3
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 GeneticVariation CLINVAR UniProt: a hub for protein information. 25348405

2015
dbSNP: rs1553749681
rs1553749681
DOCK3
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia. 25599672

2015
dbSNP: rs1553749681
rs1553749681
DOCK3
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Genome sequencing identifies major causes of severe intellectual disability. 24896178

2014
dbSNP: rs1553749681
rs1553749681
DOCK3
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 GeneticVariation CLINVAR A draft map of the human proteome. 24870542

2014
dbSNP: rs1553749681
rs1553749681
DOCK3
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Dock GEFs and their therapeutic potential: neuroprotection and axon regeneration. 25016980

2014
dbSNP: rs1553749681
rs1553749681
DOCK3
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Dock3 induces axonal outgrowth by stimulating membrane recruitment of the WAVE complex. 20368433

2010
dbSNP: rs1553749681
rs1553749681
DOCK3
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Loss of modifier of cell adhesion reveals a pathway leading to axonal degeneration. 19129390

2009
dbSNP: rs1553749681
rs1553749681
DOCK3
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 GeneticVariation CLINVAR BDNF and memory formation and storage. 17911219

2008
dbSNP: rs1553749681
rs1553749681
DOCK3
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Brain-specific phosphorylation of MeCP2 regulates activity-dependent Bdnf transcription, dendritic growth, and spine maturation. 17046689

2006
dbSNP: rs1553749681
rs1553749681
DOCK3
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Neurotrophin receptor homolog (NRH1) proteins regulate mesoderm formation and apoptosis during early Xenopus development. 17055478

2006
dbSNP: rs1553749681
rs1553749681
DOCK3
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 GeneticVariation CLINVAR TrkB has a cell-autonomous role in the establishment of hippocampal Schaffer collateral synapses. 15829629

2005
dbSNP: rs1553749681
rs1553749681
DOCK3
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Nonsense-mediated decay approaches the clinic. 15284851

2004
dbSNP: rs1553749681
rs1553749681
DOCK3
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 GeneticVariation CLINVAR A de novo mutation affecting human TrkB associated with severe obesity and developmental delay. 15494731

2004
dbSNP: rs1553749681
rs1553749681
DOCK3
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		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
dbSNP: rs1553749681
rs1553749681
DOCK3
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Signalling mechanisms mediating neuronal responses to guidance cues. 14682358

2003
dbSNP: rs1553749681
rs1553749681
DOCK3
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 GeneticVariation CLINVAR A novel pericentric inversion of chromosome 3 cosegregates with a developmental-behavioural phenotype. 12566533

2003
dbSNP: rs1553749681
rs1553749681
DOCK3
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		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
dbSNP: rs1553749681
rs1553749681
DOCK3
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Identification of an evolutionarily conserved superfamily of DOCK180-related proteins with guanine nucleotide exchange activity. 12432077

2002
dbSNP: rs1553749681
rs1553749681
DOCK3
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Isolation and characterization of novel presenilin binding protein. 10854253

2000
dbSNP: rs1553749681
rs1553749681
DOCK3
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Small GTPases Rac and Rho in the maintenance of dendritic spines and branches in hippocampal pyramidal neurons. 10884317

2000