Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3697269
Disease: 15q24 Microdeletion
15q24 Microdeletion 		0.300 ChromosomalRearrangement disease ORPHANET Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity. 27399968 2016
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		0.100 Biomarker disease HPO
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		0.100 Biomarker disease HPO
CUI: C4021421
Disease: Abnormality of the proximal phalanx of the thumb
Abnormality of the proximal phalanx of the thumb 		0.100 Biomarker phenotype HPO
CUI: C4021797
Disease: Abnormality of the thorax
Abnormality of the thorax 		0.100 Biomarker disease HPO
CUI: C4021776
Disease: Abnormality of the voice
Abnormality of the voice 		0.100 Biomarker disease HPO
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		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: C0001807
Disease: Aggressive behavior
Aggressive behavior 		0.100 Biomarker phenotype HPO
CUI: C0002622
Disease: Amnesia
Amnesia 		0.010 Biomarker disease BEFREE This study examines the role of co-repressor SIN3A in scopolamine-induced amnesia through epigenetic changes in the hippocampus. 29494759 2018
CUI: C0003079
Disease: Anisocoria
Anisocoria 		0.100 Biomarker phenotype HPO
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.100 Biomarker phenotype HPO
CUI: C2936786
Disease: Aqueductal Stenosis
Aqueductal Stenosis 		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: C0003706
Disease: Arachnodactyly
Arachnodactyly 		0.100 Biomarker disease HPO
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.100 Biomarker disease HPO
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: C2677504
Disease: AUTISM, SUSCEPTIBILITY TO, 15
AUTISM, SUSCEPTIBILITY TO, 15 		0.300 Biomarker disease GENOMICS_ENGLAND Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity. 27399968 2016
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.100 CausalMutation disease CLINVAR Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome. 30267900 2019
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.100 Biomarker disease HPO
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: C1862095
Disease: Bilateral single transverse palmar creases
Bilateral single transverse palmar creases 		0.100 Biomarker phenotype HPO
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.100 Biomarker disease HPO
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.050 Biomarker disease BEFREE Our data indicate that LSD1 is a functional alternative subunit of the SIN3A/HDAC complex, providing a molecular basis for the interplay of histone demethylation and deacetylation in chromatin remodelling, and suggest that the LSD1/SIN3A/HDAC complex could be a target for breast cancer therapeutic strategies. 29741645 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.050 Biomarker disease BEFREE Loss of Sin3A inhibited breast cancer cell growth by increasing apoptosis without affecting cell cycle progression. 20920219 2010
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.050 AlteredExpression disease BEFREE Additionally, we analyzed microarray data sets to identify correlations of SIN3A and SIN3B expression with survival in patients with breast cancer. 27780928 2016