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: 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
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma 		0.300 Biomarker disease CTD_human Genes associated with early development, apoptosis and cell cycle regulation define a gene expression profile of adenoid cystic carcinoma. 16762588 2006
CUI: C0036095
Disease: Salivary Gland Neoplasms
Salivary Gland Neoplasms 		0.300 Biomarker group CTD_human Genes associated with early development, apoptosis and cell cycle regulation define a gene expression profile of adenoid cystic carcinoma. 16762588 2006
CUI: C0220636
Disease: Malignant neoplasm of salivary gland
Malignant neoplasm of salivary gland 		0.300 Biomarker disease CTD_human Genes associated with early development, apoptosis and cell cycle regulation define a gene expression profile of adenoid cystic carcinoma. 16762588 2006
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.130 GeneticVariation group BEFREE De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome. 27545680 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.130 GeneticVariation group BEFREE De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive. 27545676 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.130 Biomarker group BEFREE Along with the first and original description of the apparently de novo truncating mutation in SON mentioned above, we have established that haploinsufficiency of SON causes a new recognizable syndrome of intellectual disability. 27256762 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.130 Biomarker group HPO
CUI: C0221353
Disease: Horseshoe Kidney
Horseshoe Kidney 		0.110 GeneticVariation disease BEFREE Detailed phenotyping of 14 patients with SON haploinsufficiency identified kidney anomalies in 8 patients, including horseshoe kidney, unilateral renal hypoplasia, and renal cysts. 31005274 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 GeneticVariation disease CLINVAR De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive. 27545676 2016
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 GeneticVariation disease BEFREE Herein, we describe seven unrelated individuals with de novo variants in SON and propose that deleterious variants in SON are associated with a severe multisystem disorder characterized by developmental delay, persistent feeding difficulties, and congenital malformations, including brain anomalies. 27545676 2016
CUI: C0221353
Disease: Horseshoe Kidney
Horseshoe Kidney 		0.110 Biomarker disease HPO