Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.100 GeneticVariation phenotype GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.050 GeneticVariation disease BEFREE These observations reveal that the SIN3A mutation has lost its transcriptional repression function due to its cytoplasmic localization, and that this repression may contribute to the progression of breast cancer. 30375428 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.050 GeneticVariation disease BEFREE These observations reveal that the SIN3A mutation has lost its transcriptional repression function due to its cytoplasmic localization, and that this repression may contribute to the progression of breast cancer. 30375428 2018
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.020 GeneticVariation disease BEFREE Decreased expression of the SIN3A gene, a candidate tumor suppressor located at the prevalent allelic loss region 15q23 in non-small cell lung cancer. 17854949 2008
CUI: C0004509
Disease: Azoospermia
Azoospermia 		0.010 GeneticVariation disease BEFREE This study suggests a lack of association of SIN3A gene sequence variants with azoospermia caused by SCOS in humans. 25395209 2015
CUI: C0026985
Disease: Myelodysplasia
Myelodysplasia 		0.010 GeneticVariation disease BEFREE One is a complex t(15;21)(q24;q22), with both breakpoints mapped at the nucleotide level, joining RUNX1 to SIN3A and UBL7-AS1 in a patient with myelodysplasia. 26671595 2015
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis 		0.010 GeneticVariation disease BEFREE Using a whole genome sequencing (WGS) approach, we identified somatic coding and noncoding variants that may contribute to leukemogenesis in 11 adult Korean acute myeloid leukemia (AML) patients, with serial tumor samples (primary and relapse) available for 5 of them; somatic variants were identified in 187 AML-related genes, including both novel (SIN3A, C10orf53, PTPRR, and RERGL) and well-known (NPM1, RUNX1, and CEPBA) AML-related genes. 29764005 2018
CUI: C1384583
Disease: Congenital absence of germinal epithelium of testes
Congenital absence of germinal epithelium of testes 		0.010 GeneticVariation disease BEFREE This study suggests a lack of association of SIN3A gene sequence variants with azoospermia caused by SCOS in humans. 25395209 2015
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.010 GeneticVariation group BEFREE One is a complex t(15;21)(q24;q22), with both breakpoints mapped at the nucleotide level, joining RUNX1 to SIN3A and UBL7-AS1 in a patient with myelodysplasia. 26671595 2015
CUI: C4310804
Disease: WITTEVEEN-KOLK SYNDROME
WITTEVEEN-KOLK SYNDROME 		0.600 Biomarker disease CTD_human
CUI: C4310804
Disease: WITTEVEEN-KOLK SYNDROME
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
CUI: C0013336
Disease: Dwarfism
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
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.410 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
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
CUI: C3714756
Disease: Intellectual Disability
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
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.410 Biomarker group HPO
CUI: C3714756
Disease: Intellectual Disability
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
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.400 Biomarker disease HPO
CUI: C0025958
Disease: Microcephaly
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
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		0.400 Biomarker phenotype HPO
CUI: C1531647
Disease: Cerebral ventriculomegaly
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
CUI: C1510586
Disease: Autism Spectrum Disorders
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
CUI: C1510586
Disease: Autism Spectrum Disorders
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
CUI: C0009451
Disease: Communicating Hydrocephalus
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
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		0.300 Biomarker phenotype RGD The fetal IUGR state was characterized by loss of USF-1 binding at the proximal promoter of Pdx1, recruitment of the histone deacetylase 1 (HDAC1) and the corepressor Sin3A, and deacetylation of histones H3 and H4. 18464933 2008