Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1567368243
rs1567368243
Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A
CUI: C1843367
Disease:
Poor school performance 		GT 0.700 CausalMutation CLINVAR Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome. 30267900 2019
dbSNP: rs1567368243
rs1567368243
Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A
CUI: C4540398
Disease:
Thick ear helices 		GT 0.700 CausalMutation CLINVAR Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome. 30267900 2019
dbSNP: rs1567368243
rs1567368243
Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A
CUI: C1836542
Disease:
Depressed nasal bridge 		GT 0.700 CausalMutation CLINVAR Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome. 30267900 2019
dbSNP: rs1567368243
rs1567368243
Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A
CUI: C0575802
Disease:
Small hand 		GT 0.700 CausalMutation CLINVAR Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome. 30267900 2019
dbSNP: rs1567368243
rs1567368243
Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A
CUI: C1850049
Disease:
Clinodactyly of the 5th finger 		GT 0.700 CausalMutation CLINVAR Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome. 30267900 2019
dbSNP: rs1567368243
rs1567368243
Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A
CUI: C0423110
Disease:
Downward slant of palpebral fissure 		GT 0.700 CausalMutation CLINVAR Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome. 30267900 2019
dbSNP: rs1567368243
rs1567368243
Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A
CUI: C1836047
Disease:
Long face 		GT 0.700 CausalMutation CLINVAR Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome. 30267900 2019
dbSNP: rs1567368243
rs1567368243
Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A
CUI: C4310804
Disease:
WITTEVEEN-KOLK SYNDROME 		GT 0.700 CausalMutation CLINVAR Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome. 30267900 2019
dbSNP: rs1567368243
rs1567368243
Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A
CUI: C0856975
Disease:
Autistic behavior 		GT 0.700 CausalMutation CLINVAR Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome. 30267900 2019
dbSNP: rs4886696
rs4886696
Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A
CUI: C0017654
Disease:
Glomerular Filtration Rate 		A 0.700 GeneticVariation GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163 2019
dbSNP: rs4886699
rs4886699
Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A
CUI: C0017654
Disease:
Glomerular Filtration Rate 		A 0.700 GeneticVariation GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163 2019
dbSNP: rs1555444885
rs1555444885
Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A
CUI: C0026827
Disease:
Muscle hypotonia 		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 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: C0026827
Disease:
Muscle hypotonia 		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 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: C0026827
Disease:
Muscle hypotonia 		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 Sin3: insight into its transcription regulatory functions. 24189169 2014
dbSNP: rs1555444885
rs1555444885
Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A
CUI: C0026827
Disease:
Muscle hypotonia 		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 Further clinical and molecular delineation of the 15q24 microdeletion syndrome. 22180641 2012
dbSNP: rs1555444885
rs1555444885
Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A
CUI: C0026827
Disease:
Muscle hypotonia 		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 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: C0026827
Disease:
Muscle hypotonia 		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: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR mSin3A corepressor regulates diverse transcriptional networks governing normal and neoplastic growth and survival. 15998811 2005