WITTEVEEN-KOLK SYNDROME
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome.
|
30267900 |
2019 |
WITTEVEEN-KOLK SYNDROME
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data.
|
25529582 |
2015 |
WITTEVEEN-KOLK SYNDROME
|
0.600 |
Biomarker
|
disease |
CTD_human |
|
|
|
Dwarfism
|
0.410 |
Biomarker
|
disease |
BEFREE |
Here we identified dominant mutations in the gene encoding the transcriptional repressor and MeCP2 interactor switch-insensitive 3 family member A (SIN3A; chromosome 15q24.2) in individuals who, in addition to mild intellectual disability and ASD, share striking features, including facial dysmorphisms, microcephaly and short stature.
|
27399968 |
2016 |
Dwarfism
|
0.410 |
Biomarker
|
disease |
CTD_human |
Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity.
|
27399968 |
2016 |
Intellectual Disability
|
0.410 |
Biomarker
|
group |
CTD_human |
Together, our data establish that haploinsufficiency of SIN3A is associated with mild syndromic intellectual disability and that SIN3A can be considered to be a key transcriptional regulator of cortical brain development.
|
27399968 |
2016 |
Intellectual Disability
|
0.410 |
Biomarker
|
group |
BEFREE |
Together, our data establish that haploinsufficiency of SIN3A is associated with mild syndromic intellectual disability and that SIN3A can be considered to be a key transcriptional regulator of cortical brain development.
|
27399968 |
2016 |
Dwarfism
|
0.410 |
Biomarker
|
disease |
HPO |
|
|
|
Intellectual Disability
|
0.410 |
Biomarker
|
group |
HPO |
|
|
|
Microcephaly
|
0.400 |
Biomarker
|
disease |
CTD_human |
Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity.
|
27399968 |
2016 |
Cerebral ventriculomegaly
|
0.400 |
Biomarker
|
phenotype |
CTD_human |
Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity.
|
27399968 |
2016 |
Microcephaly
|
0.400 |
Biomarker
|
disease |
HPO |
|
|
|
Cerebral ventriculomegaly
|
0.400 |
Biomarker
|
phenotype |
HPO |
|
|
|
Autism Spectrum Disorders
|
0.310 |
Biomarker
|
disease |
BEFREE |
Here we identified dominant mutations in the gene encoding the transcriptional repressor and MeCP2 interactor switch-insensitive 3 family member A (SIN3A; chromosome 15q24.2) in individuals who, in addition to mild intellectual disability and ASD, share striking features, including facial dysmorphisms, microcephaly and short stature.
|
27399968 |
2016 |
Autism Spectrum Disorders
|
0.310 |
Biomarker
|
disease |
CTD_human |
Here we identified dominant mutations in the gene encoding the transcriptional repressor and MeCP2 interactor switch-insensitive 3 family member A (SIN3A; chromosome 15q24.2) in individuals who, in addition to mild intellectual disability and ASD, share striking features, including facial dysmorphisms, microcephaly and short stature.
|
27399968 |
2016 |
Communicating Hydrocephalus
|
0.300 |
Biomarker
|
disease |
CTD_human |
Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity.
|
27399968 |
2016 |
Hydrocephalus
|
0.300 |
Biomarker
|
disease |
CTD_human |
Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity.
|
27399968 |
2016 |
Congenital Hydrocephalus
|
0.300 |
Biomarker
|
disease |
CTD_human |
Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity.
|
27399968 |
2016 |
Profound Mental Retardation
|
0.300 |
Biomarker
|
disease |
CTD_human |
Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity.
|
27399968 |
2016 |
Mental Retardation, Psychosocial
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity.
|
27399968 |
2016 |
Agenesis of corpus callosum
|
0.300 |
Biomarker
|
disease |
CTD_human |
Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity.
|
27399968 |
2016 |
Hydrocephalus Ex-Vacuo
|
0.300 |
Biomarker
|
disease |
CTD_human |
Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity.
|
27399968 |
2016 |
Craniofacial Abnormalities
|
0.300 |
Biomarker
|
group |
CTD_human |
Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity.
|
27399968 |
2016 |
Post-Traumatic Hydrocephalus
|
0.300 |
Biomarker
|
disease |
CTD_human |
Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity.
|
27399968 |
2016 |
Obstructive Hydrocephalus
|
0.300 |
Biomarker
|
disease |
CTD_human |
Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity.
|
27399968 |
2016 |