Gene: SON ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555899177
rs1555899177
SON
A 0.700 CausalMutation CLINVAR A genome-wide in situ hybridization map of RNA-binding proteins reveals anatomically restricted expression in the developing mouse brain. 16033648

2005
dbSNP: rs1555899177
rs1555899177
SON
A 0.700 CausalMutation CLINVAR [Identification of a protein product of a novel human gene SON and the biological effect upon administering a changed form of this gene into mammalian cells]. 1944255

1991
dbSNP: rs1555899177
rs1555899177
SON
A 0.700 CausalMutation CLINVAR Characterising and predicting haploinsufficiency in the human genome. 20976243

2010
dbSNP: rs1555899177
rs1555899177
SON
A 0.700 CausalMutation CLINVAR HDAC-6 interacts with and deacetylates tubulin and microtubules in vivo. 12606581

2003
dbSNP: rs1555899177
rs1555899177
SON
A 0.700 CausalMutation CLINVAR Organization and conservation of the GART/SON/DONSON locus in mouse and human genomes. 10950926

2000
dbSNP: rs1555899177
rs1555899177
SON
A 0.700 CausalMutation CLINVAR Histone deacetylase 6 (HDAC6) is an independent deacetylase for alpha-tubulin. 19961433

2010
dbSNP: rs1555899177
rs1555899177
SON
A 0.700 CausalMutation CLINVAR Transcription repression of human hepatitis B virus genes by negative regulatory element-binding protein/SON. 11306577

2001
dbSNP: rs1555899177
rs1555899177
SON
A 0.700 CausalMutation CLINVAR De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive. 27545676

2016
dbSNP: rs1555899177
rs1555899177
SON
A 0.700 CausalMutation CLINVAR SON is a spliceosome-associated factor required for mitotic progression. 20581448

2010
dbSNP: rs1555899177
rs1555899177
SON
A 0.700 CausalMutation CLINVAR Accurate splicing of HDAC6 pre-mRNA requires SON. 25782155

2015
dbSNP: rs1555899177
rs1555899177
SON
A 0.700 CausalMutation CLINVAR [Decoding of the primary structure of the son3 region in human genome: identification of a new protein with unusual structure and homology with DNA-binding proteins]. 3054499

1988
dbSNP: rs1555899177
rs1555899177
SON
A 0.700 CausalMutation CLINVAR Son is essential for nuclear speckle organization and cell cycle progression. 20053686

2010
dbSNP: rs1555899177
rs1555899177
SON
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
SON
A 0.700 CausalMutation CLINVAR Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. 25590979

2015
dbSNP: rs1555899177
rs1555899177
SON
A 0.700 CausalMutation CLINVAR Molecular cloning of Fyn-associated molecules in the mouse central nervous system. 9185665

1997
dbSNP: rs1555899177
rs1555899177
SON
A 0.700 CausalMutation CLINVAR Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria. 22948023

2013
dbSNP: rs1555899177
rs1555899177
SON
A 0.700 CausalMutation CLINVAR Genome sequencing identifies major causes of severe intellectual disability. 24896178

2014
dbSNP: rs1555899177
rs1555899177
SON
A 0.700 CausalMutation CLINVAR mRNA expression, splicing and editing in the embryonic and adult mouse cerebral cortex. 23416452

2013
dbSNP: rs1555899177
rs1555899177
SON
A 0.700 CausalMutation CLINVAR An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation. 23001566

2012
dbSNP: rs1555899177
rs1555899177
SON
A 0.700 CausalMutation CLINVAR SON connects the splicing-regulatory network with pluripotency in human embryonic stem cells. 24013217

2013
dbSNP: rs1555899177
rs1555899177
SON
A 0.700 CausalMutation CLINVAR SON controls cell-cycle progression by coordinated regulation of RNA splicing. 21504830

2011
dbSNP: rs1555899177
rs1555899177
SON
A 0.700 CausalMutation CLINVAR Son maintains accurate splicing for a subset of human pre-mRNAs. 22193954

2011
dbSNP: rs1555899177
rs1555899177
SON
A 0.700 CausalMutation CLINVAR A selection system for human apoptosis inhibitors using yeast. 10509013

1999
dbSNP: rs1555899177
rs1555899177
SON
A 0.700 CausalMutation CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962

2015
dbSNP: rs1555899177
rs1555899177
SON
A 0.700 CausalMutation CLINVAR Diagnostic exome sequencing in persons with severe intellectual disability. 23033978

2012