DOCK3, dedicator of cytokinesis 3, 1795

N. diseases: 85; N. variants: 51
Disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs142515812
rs142515812
Entrez Id: 1795
Gene Symbol: DOCK3
DOCK3
CUI: C4749014
Disease:
NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA 		0.700 GeneticVariation UNIPROT Variants in DOCK3 cause developmental delay and hypotonia. 30976111 2019
dbSNP: rs199600118
rs199600118
Entrez Id: 1795
Gene Symbol: DOCK3
DOCK3
CUI: C4749014
Disease:
NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA 		0.700 GeneticVariation UNIPROT Variants in DOCK3 cause developmental delay and hypotonia. 30976111 2019
dbSNP: rs201184598
rs201184598
Entrez Id: 1795
Gene Symbol: DOCK3
DOCK3
CUI: C4749014
Disease:
NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA 		0.700 GeneticVariation UNIPROT Variants in DOCK3 cause developmental delay and hypotonia. 30976111 2019
dbSNP: rs142515812
rs142515812
Entrez Id: 1795
Gene Symbol: DOCK3
DOCK3
CUI: C4749014
Disease:
NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA 		0.700 GeneticVariation UNIPROT DOCK3-related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia. 29130632 2018
dbSNP: rs199600118
rs199600118
Entrez Id: 1795
Gene Symbol: DOCK3
DOCK3
CUI: C4749014
Disease:
NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA 		0.700 GeneticVariation UNIPROT DOCK3-related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia. 29130632 2018
dbSNP: rs201184598
rs201184598
Entrez Id: 1795
Gene Symbol: DOCK3
DOCK3
CUI: C4749014
Disease:
NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA 		0.700 GeneticVariation UNIPROT DOCK3-related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia. 29130632 2018
dbSNP: rs142515812
rs142515812
Entrez Id: 1795
Gene Symbol: DOCK3
DOCK3
CUI: C4749014
Disease:
NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA 		0.700 GeneticVariation UNIPROT Biallelic loss-of-function variants in DOCK3 cause muscle hypotonia, ataxia, and intellectual disability. 28195318 2017
dbSNP: rs199600118
rs199600118
Entrez Id: 1795
Gene Symbol: DOCK3
DOCK3
CUI: C4749014
Disease:
NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA 		0.700 GeneticVariation UNIPROT Biallelic loss-of-function variants in DOCK3 cause muscle hypotonia, ataxia, and intellectual disability. 28195318 2017
dbSNP: rs201184598
rs201184598
Entrez Id: 1795
Gene Symbol: DOCK3
DOCK3
CUI: C4749014
Disease:
NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA 		0.700 GeneticVariation UNIPROT Biallelic loss-of-function variants in DOCK3 cause muscle hypotonia, ataxia, and intellectual disability. 28195318 2017
dbSNP: rs1553749681
rs1553749681
Entrez Id: 1795
Gene Symbol: DOCK3
DOCK3
CUI: C4749014
Disease:
NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA 		T 0.700 CausalMutation CLINVAR