Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6651
Gene Symbol: SON
SON
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 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
Entrez Id: 6651
Gene Symbol: SON
SON
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive. 27545676

2016
Entrez Id: 6651
Gene Symbol: SON
SON
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 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
Entrez Id: 6651
Gene Symbol: SON
SON
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive. 27545676

2016
Entrez Id: 6651
Gene Symbol: SON
SON
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Accurate splicing of HDAC6 pre-mRNA requires SON. 25782155

2015
Entrez Id: 6651
Gene Symbol: SON
SON
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962

2015
Entrez Id: 6651
Gene Symbol: SON
SON
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. 25590979

2015
Entrez Id: 6651
Gene Symbol: SON
SON
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Accurate splicing of HDAC6 pre-mRNA requires SON. 25782155

2015
Entrez Id: 6651
Gene Symbol: SON
SON
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962

2015
Entrez Id: 6651
Gene Symbol: SON
SON
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. 25590979

2015
Entrez Id: 6651
Gene Symbol: SON
SON
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Genome sequencing identifies major causes of severe intellectual disability. 24896178

2014
Entrez Id: 6651
Gene Symbol: SON
SON
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Genome sequencing identifies major causes of severe intellectual disability. 24896178

2014
Entrez Id: 6651
Gene Symbol: SON
SON
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR SON connects the splicing-regulatory network with pluripotency in human embryonic stem cells. 24013217

2013
Entrez Id: 6651
Gene Symbol: SON
SON
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. 23603762

2013
Entrez Id: 6651
Gene Symbol: SON
SON
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene. 23595291

2013
Entrez Id: 6651
Gene Symbol: SON
SON
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia. 23424103

2013
Entrez Id: 6651
Gene Symbol: SON
SON
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. 23603762

2013
Entrez Id: 6651
Gene Symbol: SON
SON
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR mRNA expression, splicing and editing in the embryonic and adult mouse cerebral cortex. 23416452

2013
Entrez Id: 6651
Gene Symbol: SON
SON
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene. 23595291

2013
Entrez Id: 6651
Gene Symbol: SON
SON
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria. 22948023

2013
Entrez Id: 6651
Gene Symbol: SON
SON
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria. 22948023

2013
Entrez Id: 6651
Gene Symbol: SON
SON
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR mRNA expression, splicing and editing in the embryonic and adult mouse cerebral cortex. 23416452

2013
Entrez Id: 6651
Gene Symbol: SON
SON
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR SON connects the splicing-regulatory network with pluripotency in human embryonic stem cells. 24013217

2013
Entrez Id: 6651
Gene Symbol: SON
SON
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia. 23424103

2013
Entrez Id: 6651
Gene Symbol: SON
SON
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation. 23001566

2012