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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
Zhu-Tokita-Takenouchi-Kim syndrome
|
0.710 |
GeneticVariation
|
phenotype |
UNIPROT |
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.
|
25590979 |
2015 |
Zhu-Tokita-Takenouchi-Kim syndrome
|
0.710 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Zhu-Tokita-Takenouchi-Kim syndrome
|
0.710 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
|
|
|
Zhu-Tokita-Takenouchi-Kim syndrome
|
0.710 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Zhu-Tokita-Takenouchi-Kim syndrome
|
0.710 |
Biomarker
|
phenotype |
CTD_human |
|
|
|
Zhu-Tokita-Takenouchi-Kim syndrome
|
0.710 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
|
|
|
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 |
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 |
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 |
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 |
Intellectual Disability
|
0.130 |
GeneticVariation
|
group |
BEFREE |
De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.
|
27545676 |
2016 |
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 |
Intellectual Disability
|
0.130 |
Biomarker
|
group |
HPO |
|
|
|
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 |
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 |
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 |
Horseshoe Kidney
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|