SON, SON DNA binding protein, 6651

N. diseases: 154; N. variants: 27
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation disease 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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 GeneticVariation disease 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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 GeneticVariation disease 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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation disease 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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 GeneticVariation disease CLINVAR Molecular cloning of Fyn-associated molecules in the mouse central nervous system. 9185665 1997
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation disease CLINVAR Molecular cloning of Fyn-associated molecules in the mouse central nervous system. 9185665 1997
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation disease CLINVAR A selection system for human apoptosis inhibitors using yeast. 10509013 1999
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 GeneticVariation disease CLINVAR A selection system for human apoptosis inhibitors using yeast. 10509013 1999
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation disease CLINVAR Organization and conservation of the GART/SON/DONSON locus in mouse and human genomes. 10950926 2000
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 GeneticVariation disease CLINVAR Organization and conservation of the GART/SON/DONSON locus in mouse and human genomes. 10950926 2000
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 GeneticVariation disease CLINVAR Transcription repression of human hepatitis B virus genes by negative regulatory element-binding protein/SON. 11306577 2001
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation disease CLINVAR Transcription repression of human hepatitis B virus genes by negative regulatory element-binding protein/SON. 11306577 2001
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 GeneticVariation disease CLINVAR HDAC-6 interacts with and deacetylates tubulin and microtubules in vivo. 12606581 2003
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation disease CLINVAR HDAC-6 interacts with and deacetylates tubulin and microtubules in vivo. 12606581 2003
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation disease CLINVAR A genome-wide in situ hybridization map of RNA-binding proteins reveals anatomically restricted expression in the developing mouse brain. 16033648 2005
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 GeneticVariation disease CLINVAR A genome-wide in situ hybridization map of RNA-binding proteins reveals anatomically restricted expression in the developing mouse brain. 16033648 2005
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 GeneticVariation disease CLINVAR Histone deacetylase 6 (HDAC6) is an independent deacetylase for alpha-tubulin. 19961433 2010
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation disease CLINVAR Histone deacetylase 6 (HDAC6) is an independent deacetylase for alpha-tubulin. 19961433 2010
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation disease CLINVAR Son is essential for nuclear speckle organization and cell cycle progression. 20053686 2010
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 GeneticVariation disease CLINVAR Son is essential for nuclear speckle organization and cell cycle progression. 20053686 2010
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 GeneticVariation disease CLINVAR SON is a spliceosome-associated factor required for mitotic progression. 20581448 2010
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation disease CLINVAR SON is a spliceosome-associated factor required for mitotic progression. 20581448 2010
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 GeneticVariation disease CLINVAR Characterising and predicting haploinsufficiency in the human genome. 20976243 2010
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation disease CLINVAR Characterising and predicting haploinsufficiency in the human genome. 20976243 2010
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 GeneticVariation disease CLINVAR SON controls cell-cycle progression by coordinated regulation of RNA splicing. 21504830 2011