WITTEVEEN-KOLK SYNDROME
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome.
|
30267900 |
2019 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex.
|
9620804 |
1998 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
The co-repressor mSin3A is a functional component of the REST-CoREST repressor complex.
|
10734093 |
2000 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
A new member of the Sin3 family of corepressors is essential for cell viability and required for retroelement propagation in fission yeast.
|
10022921 |
1999 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Recruitment of O-GlcNAc transferase to promoters by corepressor mSin3A: coupling protein O-GlcNAcylation to transcriptional repression.
|
12150998 |
2002 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Further clinical and molecular delineation of the 15q24 microdeletion syndrome.
|
22180641 |
2012 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
The Drosophila Sin3 gene encodes a widely distributed transcription factor essential for embryonic viability.
|
9799435 |
1998 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
The O-GlcNAc transferase gene resides on the X chromosome and is essential for embryonic stem cell viability and mouse ontogeny.
|
10801981 |
2000 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
The mSin3A chromatin-modifying complex is essential for embryogenesis and T-cell development.
|
16055712 |
2005 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
mSin3A corepressor regulates diverse transcriptional networks governing normal and neoplastic growth and survival.
|
15998811 |
2005 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Sin3: insight into its transcription regulatory functions.
|
24189169 |
2014 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Inherited 15q24 microdeletion syndrome in twins and their father with phenotypic variability.
|
25527279 |
2015 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity.
|
27399968 |
2016 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Sin3: master scaffold and transcriptional corepressor.
|
19505602 |
2009 |
Downward slant of palpebral fissure
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome.
|
30267900 |
2019 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
The mSin3A chromatin-modifying complex is essential for embryogenesis and T-cell development.
|
16055712 |
2005 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Sin3: master scaffold and transcriptional corepressor.
|
19505602 |
2009 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
A new member of the Sin3 family of corepressors is essential for cell viability and required for retroelement propagation in fission yeast.
|
10022921 |
1999 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
The Drosophila Sin3 gene encodes a widely distributed transcription factor essential for embryonic viability.
|
9799435 |
1998 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Inherited 15q24 microdeletion syndrome in twins and their father with phenotypic variability.
|
25527279 |
2015 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Sin3: insight into its transcription regulatory functions.
|
24189169 |
2014 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Further clinical and molecular delineation of the 15q24 microdeletion syndrome.
|
22180641 |
2012 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
The co-repressor mSin3A is a functional component of the REST-CoREST repressor complex.
|
10734093 |
2000 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity.
|
27399968 |
2016 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
mSin3A corepressor regulates diverse transcriptional networks governing normal and neoplastic growth and survival.
|
15998811 |
2005 |