SON, SON DNA binding protein, 6651

N. diseases: 154; N. variants: 27
Disease: Movement Disorders ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1382415023
rs1382415023
Entrez Id: 6651
Gene Symbol: SON
SON
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 GeneticVariation CLINVAR De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive. 27545676 2016
dbSNP: rs1382415023
rs1382415023
Entrez Id: 6651
Gene Symbol: SON
SON
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 GeneticVariation CLINVAR De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome. 27545680 2016
dbSNP: rs1555899177
rs1555899177
Entrez Id: 6651
Gene Symbol: SON
SON
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome. 27545680 2016
dbSNP: rs1555899177
rs1555899177
Entrez Id: 6651
Gene Symbol: SON
SON
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive. 27545676 2016
dbSNP: rs1382415023
rs1382415023
Entrez Id: 6651
Gene Symbol: SON
SON
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 GeneticVariation CLINVAR Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. 25590979 2015
dbSNP: rs1382415023
rs1382415023
Entrez Id: 6651
Gene Symbol: SON
SON
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 GeneticVariation CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962 2015
dbSNP: rs1382415023
rs1382415023
Entrez Id: 6651
Gene Symbol: SON
SON
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 GeneticVariation CLINVAR Accurate splicing of HDAC6 pre-mRNA requires SON. 25782155 2015
dbSNP: rs1555899177
rs1555899177
Entrez Id: 6651
Gene Symbol: SON
SON
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. 25590979 2015
dbSNP: rs1555899177
rs1555899177
Entrez Id: 6651
Gene Symbol: SON
SON
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962 2015
dbSNP: rs1555899177
rs1555899177
Entrez Id: 6651
Gene Symbol: SON
SON
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Accurate splicing of HDAC6 pre-mRNA requires SON. 25782155 2015
dbSNP: rs1382415023
rs1382415023
Entrez Id: 6651
Gene Symbol: SON
SON
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 GeneticVariation CLINVAR Genome sequencing identifies major causes of severe intellectual disability. 24896178 2014
dbSNP: rs1555899177
rs1555899177
Entrez Id: 6651
Gene Symbol: SON
SON
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Genome sequencing identifies major causes of severe intellectual disability. 24896178 2014
dbSNP: rs1382415023
rs1382415023
Entrez Id: 6651
Gene Symbol: SON
SON
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 GeneticVariation CLINVAR Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene. 23595291 2013
dbSNP: rs1382415023
rs1382415023
Entrez Id: 6651
Gene Symbol: SON
SON
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 GeneticVariation CLINVAR mRNA expression, splicing and editing in the embryonic and adult mouse cerebral cortex. 23416452 2013
dbSNP: rs1382415023
rs1382415023
Entrez Id: 6651
Gene Symbol: SON
SON
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 GeneticVariation CLINVAR Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria. 22948023 2013
dbSNP: rs1382415023
rs1382415023
Entrez Id: 6651
Gene Symbol: SON
SON
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 GeneticVariation CLINVAR Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. 23603762 2013
dbSNP: rs1382415023
rs1382415023
Entrez Id: 6651
Gene Symbol: SON
SON
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 GeneticVariation CLINVAR Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia. 23424103 2013
dbSNP: rs1382415023
rs1382415023
Entrez Id: 6651
Gene Symbol: SON
SON
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 GeneticVariation CLINVAR SON connects the splicing-regulatory network with pluripotency in human embryonic stem cells. 24013217 2013
dbSNP: rs1555899177
rs1555899177
Entrez Id: 6651
Gene Symbol: SON
SON
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia. 23424103 2013
dbSNP: rs1555899177
rs1555899177
Entrez Id: 6651
Gene Symbol: SON
SON
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR mRNA expression, splicing and editing in the embryonic and adult mouse cerebral cortex. 23416452 2013
dbSNP: rs1555899177
rs1555899177
Entrez Id: 6651
Gene Symbol: SON
SON
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. 23603762 2013
dbSNP: rs1555899177
rs1555899177
Entrez Id: 6651
Gene Symbol: SON
SON
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR SON connects the splicing-regulatory network with pluripotency in human embryonic stem cells. 24013217 2013
dbSNP: rs1555899177
rs1555899177
Entrez Id: 6651
Gene Symbol: SON
SON
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene. 23595291 2013
dbSNP: rs1555899177
rs1555899177
Entrez Id: 6651
Gene Symbol: SON
SON
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria. 22948023 2013
dbSNP: rs1382415023
rs1382415023
Entrez Id: 6651
Gene Symbol: SON
SON
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 GeneticVariation CLINVAR An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation. 23001566 2012