|
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
ST3GAL3 mutations impair the development of higher cognitive functions.
|
21907012 |
2011 |
|
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci.
|
17120046 |
2007 |
|
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15
|
0.500 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A novel non-sense and inactivating variant of ST3GAL3 in two infant siblings suffering severe epilepsy and expressing circulating CA19.9.
|
31584066 |
2020 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15
|
0.500 |
GeneticVariation
|
disease |
UNIPROT |
West syndrome caused by ST3Gal-III deficiency.
|
23252400 |
2013 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15
|
0.500 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
West syndrome caused by ST3Gal-III deficiency.
|
23252400 |
2013 |
|
Intellectual Disability
|
0.430 |
Biomarker
|
group |
GENOMICS_ENGLAND |
Three missense variants of ST3GAL3 are known to be responsible for a congenital disorder of glycosylation determining a neurodevelopmental disorder (intellectual disability/epileptic encephalopathy).
|
31584066 |
2020 |
|
Intellectual Disability
|
0.430 |
GeneticVariation
|
group |
BEFREE |
Three missense variants of ST3GAL3 are known to be responsible for a congenital disorder of glycosylation determining a neurodevelopmental disorder (intellectual disability/epileptic encephalopathy).
|
31584066 |
2020 |
|
Intellectual Disability
|
0.430 |
GeneticVariation
|
group |
BEFREE |
We found that DNA methylation at birth differentiated ADHD trajectories across multiple genomic locations, including probes annotated to SKI (involved in neural tube development), ZNF544 (previously implicated in ADHD), ST3GAL3 (linked to intellectual disability) and PEX2 (related to perixosomal processes).
|
27217153 |
2017 |
|
Intellectual Disability
|
0.430 |
GeneticVariation
|
group |
BEFREE |
ST3GAL3 resides on chromosome 1 within the MRT4 locus previously identified to associate with nonsyndromic autosomal recessive intellectual disability.
|
21907012 |
2011 |
|
Intellectual Disability
|
0.430 |
Biomarker
|
group |
HPO |
|
|
|
|
West Syndrome
|
0.420 |
GeneticVariation
|
disease |
BEFREE |
For this purpose we generated induced pluripotent stem cell (iPSC) lines from fibroblasts obtained from a patient with West syndrome, carrying a variant in exon 12 (c.958G>C, p.(Ala320Pro)) of ST3GAL3, and a healthy sibling, using lentiviral reprogramming. iPSCs and cortical neurons derived thereof were analysed by lectin blots, mRNA sequencing, adherence assays, and FACS.
|
30089820 |
2018 |
|
West Syndrome
|
0.420 |
GermlineCausalMutation
|
disease |
ORPHANET |
Using homozygosity mapping followed by exome sequencing we identified an ST3GAL3 mutation in three infants with West syndrome.
|
23252400 |
2013 |
|
West Syndrome
|
0.420 |
GeneticVariation
|
disease |
BEFREE |
Using homozygosity mapping followed by exome sequencing we identified an ST3GAL3 mutation in three infants with West syndrome.
|
23252400 |
2013 |
|
West Syndrome
|
0.420 |
Biomarker
|
disease |
HPO |
|
|
|
|
Attention deficit hyperactivity disorder
|
0.120 |
GeneticVariation
|
disease |
GWASCAT |
A Genetic Investigation of Sex Bias in the Prevalence of Attention-Deficit/Hyperactivity Disorder.
|
29325848 |
2018 |
|
Attention deficit hyperactivity disorder
|
0.120 |
Biomarker
|
disease |
BEFREE |
We identified multiple genes and pathways with common or disease specific effects, such as NISCH (P = 9.87 × 10<sup>-3</sup> for BP and 2.49 × 10<sup>-6</sup> for SCZ), ST3GAL3 (P = 1.19 × 10<sup>-2</sup> for ADHD), and KEGG_MAPK_SIGNALING_PATHWAY (P = 1.56 × 10<sup>-3</sup> for ADHD, P = 4.71 × 10<sup>-2</sup> for BP, P = 4.60 × 10<sup>-4</sup> for SCZ).
|
30339835 |
2018 |
|
Attention deficit hyperactivity disorder
|
0.120 |
Biomarker
|
disease |
BEFREE |
We found that DNA methylation at birth differentiated ADHD trajectories across multiple genomic locations, including probes annotated to SKI (involved in neural tube development), ZNF544 (previously implicated in ADHD), ST3GAL3 (linked to intellectual disability) and PEX2 (related to perixosomal processes).
|
27217153 |
2017 |
|
Epileptic encephalopathy
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
Three missense variants of ST3GAL3 are known to be responsible for a congenital disorder of glycosylation determining a neurodevelopmental disorder (intellectual disability/epileptic encephalopathy).
|
31584066 |
2020 |
|
Schizophrenia
|
0.110 |
GeneticVariation
|
disease |
GWASCAT |
Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways.
|
31374203 |
2019 |
|
Schizophrenia
|
0.110 |
Biomarker
|
disease |
BEFREE |
We identified multiple genes and pathways with common or disease specific effects, such as NISCH (P = 9.87 × 10<sup>-3</sup> for BP and 2.49 × 10<sup>-6</sup> for SCZ), ST3GAL3 (P = 1.19 × 10<sup>-2</sup> for ADHD), and KEGG_MAPK_SIGNALING_PATHWAY (P = 1.56 × 10<sup>-3</sup> for ADHD, P = 4.71 × 10<sup>-2</sup> for BP, P = 4.60 × 10<sup>-4</sup> for SCZ).
|
30339835 |
2018 |
|
Epileptic encephalopathy
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|
|
Intelligence
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence.
|
29326435 |
2019 |