| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Muscle hypotonia
|
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 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive. | 27545676 | 2016 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Large-scale discovery of novel genetic causes of developmental disorders. | 25533962 | 2015 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. | 25590979 | 2015 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Accurate splicing of HDAC6 pre-mRNA requires SON. | 25782155 | 2015 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Genome sequencing identifies major causes of severe intellectual disability. | 24896178 | 2014 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | mRNA expression, splicing and editing in the embryonic and adult mouse cerebral cortex. | 23416452 | 2013 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. | 23603762 | 2013 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene. | 23595291 | 2013 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia. | 23424103 | 2013 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | SON connects the splicing-regulatory network with pluripotency in human embryonic stem cells. | 24013217 | 2013 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria. | 22948023 | 2013 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Diagnostic exome sequencing in persons with severe intellectual disability. | 23033978 | 2012 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation. | 23001566 | 2012 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Son maintains accurate splicing for a subset of human pre-mRNAs. | 22193954 | 2011 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | SON controls cell-cycle progression by coordinated regulation of RNA splicing. | 21504830 | 2011 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Son is essential for nuclear speckle organization and cell cycle progression. | 20053686 | 2010 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | SON is a spliceosome-associated factor required for mitotic progression. | 20581448 | 2010 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Characterising and predicting haploinsufficiency in the human genome. | 20976243 | 2010 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Histone deacetylase 6 (HDAC6) is an independent deacetylase for alpha-tubulin. | 19961433 | 2010 | |||||
Muscle hypotonia
|
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 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | HDAC-6 interacts with and deacetylates tubulin and microtubules in vivo. | 12606581 | 2003 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Transcription repression of human hepatitis B virus genes by negative regulatory element-binding protein/SON. | 11306577 | 2001 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Organization and conservation of the GART/SON/DONSON locus in mouse and human genomes. | 10950926 | 2000 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | A selection system for human apoptosis inhibitors using yeast. | 10509013 | 1999 |