SON, SON DNA binding protein, 6651

N. diseases: 154; N. variants: 27
Disease: Zhu-Tokita-Takenouchi-Kim syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310696
Disease: Zhu-Tokita-Takenouchi-Kim syndrome
Zhu-Tokita-Takenouchi-Kim syndrome 		0.710 Biomarker phenotype BEFREE Original articles on ZTTK syndrome published up to November 20l8 were identified from PubMed, Human Gene Mutation Database, Online Mendelian Inheritance in Man, China National Knowledge Infrastructure, and WanFang databases using the keywords "ZTTK syndrome" and "SON". 31557424 2019
CUI: C4310696
Disease: Zhu-Tokita-Takenouchi-Kim syndrome
Zhu-Tokita-Takenouchi-Kim syndrome 		0.710 GermlineCausalMutation phenotype ORPHANET Establishing SON in 21q22.11 as a cause a new syndromic form of intellectual disability: Possible contribution to Braddock-Carey syndrome phenotype. 27256762 2016
CUI: C4310696
Disease: Zhu-Tokita-Takenouchi-Kim syndrome
Zhu-Tokita-Takenouchi-Kim syndrome 		0.710 GeneticVariation phenotype UNIPROT De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome. 27545680 2016
CUI: C4310696
Disease: Zhu-Tokita-Takenouchi-Kim syndrome
Zhu-Tokita-Takenouchi-Kim syndrome 		0.710 GeneticVariation phenotype UNIPROT Establishing SON in 21q22.11 as a cause a new syndromic form of intellectual disability: Possible contribution to Braddock-Carey syndrome phenotype. 27256762 2016
CUI: C4310696
Disease: Zhu-Tokita-Takenouchi-Kim syndrome
Zhu-Tokita-Takenouchi-Kim syndrome 		0.710 GermlineCausalMutation phenotype ORPHANET De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome. 27545680 2016
CUI: C4310696
Disease: Zhu-Tokita-Takenouchi-Kim syndrome
Zhu-Tokita-Takenouchi-Kim syndrome 		0.710 GeneticVariation phenotype UNIPROT De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive. 27545676 2016
CUI: C4310696
Disease: Zhu-Tokita-Takenouchi-Kim syndrome
Zhu-Tokita-Takenouchi-Kim syndrome 		0.710 GermlineCausalMutation phenotype ORPHANET De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive. 27545676 2016
CUI: C4310696
Disease: Zhu-Tokita-Takenouchi-Kim syndrome
Zhu-Tokita-Takenouchi-Kim syndrome 		0.710 Biomarker phenotype GENOMICS_ENGLAND De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome. 27545680 2016
CUI: C4310696
Disease: Zhu-Tokita-Takenouchi-Kim syndrome
Zhu-Tokita-Takenouchi-Kim syndrome 		0.710 GeneticVariation phenotype UNIPROT Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. 25590979 2015
CUI: C4310696
Disease: Zhu-Tokita-Takenouchi-Kim syndrome
Zhu-Tokita-Takenouchi-Kim syndrome 		0.710 GeneticVariation phenotype CLINVAR
CUI: C4310696
Disease: Zhu-Tokita-Takenouchi-Kim syndrome
Zhu-Tokita-Takenouchi-Kim syndrome 		0.710 Biomarker phenotype GENOMICS_ENGLAND
CUI: C4310696
Disease: Zhu-Tokita-Takenouchi-Kim syndrome
Zhu-Tokita-Takenouchi-Kim syndrome 		0.710 CausalMutation phenotype CLINVAR
CUI: C4310696
Disease: Zhu-Tokita-Takenouchi-Kim syndrome
Zhu-Tokita-Takenouchi-Kim syndrome 		0.710 Biomarker phenotype CTD_human
CUI: C4310696
Disease: Zhu-Tokita-Takenouchi-Kim syndrome
Zhu-Tokita-Takenouchi-Kim syndrome 		0.710 Biomarker phenotype GENOMICS_ENGLAND