Disease: Dysmorphic features ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555444885
rs1555444885
Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity. 27399968 2016
dbSNP: rs1555444885
rs1555444885
Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Inherited 15q24 microdeletion syndrome in twins and their father with phenotypic variability. 25527279 2015
dbSNP: rs1555444885
rs1555444885
Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Sin3: insight into its transcription regulatory functions. 24189169 2014
dbSNP: rs1555444885
rs1555444885
Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Further clinical and molecular delineation of the 15q24 microdeletion syndrome. 22180641 2012
dbSNP: rs1555444885
rs1555444885
Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Sin3: master scaffold and transcriptional corepressor. 19505602 2009
dbSNP: rs1555444885
rs1555444885
Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR mSin3A corepressor regulates diverse transcriptional networks governing normal and neoplastic growth and survival. 15998811 2005
dbSNP: rs1555444885
rs1555444885
Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR The mSin3A chromatin-modifying complex is essential for embryogenesis and T-cell development. 16055712 2005
dbSNP: rs1555444885
rs1555444885
Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Recruitment of O-GlcNAc transferase to promoters by corepressor mSin3A: coupling protein O-GlcNAcylation to transcriptional repression. 12150998 2002
dbSNP: rs1555444885
rs1555444885
Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR The O-GlcNAc transferase gene resides on the X chromosome and is essential for embryonic stem cell viability and mouse ontogeny. 10801981 2000
dbSNP: rs1555444885
rs1555444885
Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR The co-repressor mSin3A is a functional component of the REST-CoREST repressor complex. 10734093 2000
dbSNP: rs1555444885
rs1555444885
Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation 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
dbSNP: rs1555444885
rs1555444885
Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR The Drosophila Sin3 gene encodes a widely distributed transcription factor essential for embryonic viability. 9799435 1998
dbSNP: rs1555444885
rs1555444885
Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex. 9620804 1998