Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555899242
rs1555899242
SON
T 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: rs1555899242
rs1555899242
SON
T 0.700 GeneticVariation CLINVAR De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive. 27545676

2016

dbSNP: rs1555899242
rs1555899242
SON
T 0.700 GeneticVariation CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962

2015

dbSNP: rs1555899242
rs1555899242
SON
T 0.700 GeneticVariation CLINVAR Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. 25590979

2015

dbSNP: rs1555899242
rs1555899242
SON
T 0.700 GeneticVariation CLINVAR Accurate splicing of HDAC6 pre-mRNA requires SON. 25782155

2015

dbSNP: rs1555899242
rs1555899242
SON
T 0.700 GeneticVariation CLINVAR Genome sequencing identifies major causes of severe intellectual disability. 24896178

2014

dbSNP: rs1555899242
rs1555899242
SON
T 0.700 GeneticVariation CLINVAR Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria. 22948023

2013

dbSNP: rs1555899242
rs1555899242
SON
T 0.700 GeneticVariation CLINVAR SON connects the splicing-regulatory network with pluripotency in human embryonic stem cells. 24013217

2013

dbSNP: rs1555899242
rs1555899242
SON
T 0.700 GeneticVariation CLINVAR mRNA expression, splicing and editing in the embryonic and adult mouse cerebral cortex. 23416452

2013

dbSNP: rs1555899242
rs1555899242
SON
T 0.700 GeneticVariation CLINVAR Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene. 23595291

2013

dbSNP: rs1555899242
rs1555899242
SON
T 0.700 GeneticVariation CLINVAR Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. 23603762

2013

dbSNP: rs1555899242
rs1555899242
SON
T 0.700 GeneticVariation CLINVAR Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia. 23424103

2013

dbSNP: rs1555899242
rs1555899242
SON
T 0.700 GeneticVariation CLINVAR An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation. 23001566

2012

dbSNP: rs1555899242
rs1555899242
SON
T 0.700 GeneticVariation CLINVAR Diagnostic exome sequencing in persons with severe intellectual disability. 23033978

2012

dbSNP: rs1555899242
rs1555899242
SON
T 0.700 GeneticVariation CLINVAR SON controls cell-cycle progression by coordinated regulation of RNA splicing. 21504830

2011

dbSNP: rs1555899242
rs1555899242
SON
T 0.700 GeneticVariation CLINVAR Son maintains accurate splicing for a subset of human pre-mRNAs. 22193954

2011

dbSNP: rs1555899242
rs1555899242
SON
T 0.700 GeneticVariation CLINVAR SON is a spliceosome-associated factor required for mitotic progression. 20581448

2010

dbSNP: rs1555899242
rs1555899242
SON
T 0.700 GeneticVariation CLINVAR Characterising and predicting haploinsufficiency in the human genome. 20976243

2010

dbSNP: rs1555899242
rs1555899242
SON
T 0.700 GeneticVariation CLINVAR Histone deacetylase 6 (HDAC6) is an independent deacetylase for alpha-tubulin. 19961433

2010

dbSNP: rs1555899242
rs1555899242
SON
T 0.700 GeneticVariation CLINVAR Son is essential for nuclear speckle organization and cell cycle progression. 20053686

2010

dbSNP: rs1555899242
rs1555899242
SON
T 0.700 GeneticVariation CLINVAR A genome-wide in situ hybridization map of RNA-binding proteins reveals anatomically restricted expression in the developing mouse brain. 16033648

2005

dbSNP: rs1555899242
rs1555899242
SON
T 0.700 GeneticVariation CLINVAR HDAC-6 interacts with and deacetylates tubulin and microtubules in vivo. 12606581

2003

dbSNP: rs1555899242
rs1555899242
SON
T 0.700 GeneticVariation CLINVAR Transcription repression of human hepatitis B virus genes by negative regulatory element-binding protein/SON. 11306577

2001

dbSNP: rs1555899242
rs1555899242
SON
T 0.700 GeneticVariation CLINVAR Organization and conservation of the GART/SON/DONSON locus in mouse and human genomes. 10950926

2000

dbSNP: rs1555899242
rs1555899242
SON
T 0.700 GeneticVariation CLINVAR A selection system for human apoptosis inhibitors using yeast. 10509013

1999