Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A
CUI: C4310804
Disease: WITTEVEEN-KOLK SYNDROME
WITTEVEEN-KOLK SYNDROME
0.600 CausalMutation CLINVAR Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome. 30267900

2019

Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.410 Biomarker HPO

Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.410 Biomarker HPO

Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.400 Biomarker HPO

Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly
0.400 Biomarker HPO

Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation
0.300 Biomarker HPO

Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
0.110 Biomarker HPO

Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate
0.100 GeneticVariation GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163

2019

Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure
0.100 CausalMutation CLINVAR Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome. 30267900

2019

Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A
CUI: C0575802
Disease: Small hand
Small hand
0.100 CausalMutation CLINVAR Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome. 30267900

2019

Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
0.100 CausalMutation CLINVAR Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome. 30267900

2019

Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A
CUI: C1836047
Disease: Long face
Long face
0.100 CausalMutation CLINVAR Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome. 30267900

2019

Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
0.100 CausalMutation CLINVAR Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome. 30267900

2019

Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A
CUI: C1843367
Disease: Poor school performance
Poor school performance
0.100 CausalMutation CLINVAR Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome. 30267900

2019

Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger
0.100 CausalMutation CLINVAR Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome. 30267900

2019

Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A
CUI: C4540398
Disease: Thick ear helices
Thick ear helices
0.100 CausalMutation CLINVAR Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome. 30267900

2019

Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 CausalMutation CLINVAR Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity. 27399968

2016

Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation CLINVAR Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity. 27399968

2016

Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 CausalMutation CLINVAR Inherited 15q24 microdeletion syndrome in twins and their father with phenotypic variability. 25527279

2015

Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation CLINVAR Inherited 15q24 microdeletion syndrome in twins and their father with phenotypic variability. 25527279

2015

Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 CausalMutation CLINVAR Sin3: insight into its transcription regulatory functions. 24189169

2014

Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation CLINVAR Sin3: insight into its transcription regulatory functions. 24189169

2014

Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 CausalMutation CLINVAR Further clinical and molecular delineation of the 15q24 microdeletion syndrome. 22180641

2012

Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation CLINVAR Further clinical and molecular delineation of the 15q24 microdeletion syndrome. 22180641

2012

Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 CausalMutation CLINVAR Sin3: master scaffold and transcriptional corepressor. 19505602

2009