Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		0.300 Biomarker phenotype HPO
CUI: C0020255
Disease: Hydrocephalus
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: C0020256
Disease: Congenital Hydrocephalus
Congenital 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: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation 		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: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		0.300 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: 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: C0270720
Disease: Hydrocephalus Ex-Vacuo
Hydrocephalus Ex-Vacuo 		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: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		0.300 Biomarker group CTD_human Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity. 27399968 2016
CUI: C0477432
Disease: Post-Traumatic Hydrocephalus
Post-Traumatic 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: C0549423
Disease: Obstructive Hydrocephalus
Obstructive 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: C0917816
Disease: Mental deficiency
Mental deficiency 		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: C1956147
Disease: Microlissencephaly
Microlissencephaly 		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: 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: C2936718
Disease: Fetal Cerebral Ventriculomegaly
Fetal Cerebral Ventriculomegaly 		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: 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: C3179058
Disease: Corpus Callosum Malformation
Corpus Callosum Malformation 		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: C3853041
Disease: Severe Congenital Microcephaly
Severe Congenital Microcephaly 		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: C0007787
Disease: Transient Ischemic Attack
Transient Ischemic Attack 		0.200 Biomarker disease RGD Increased binding of stroke-induced long non-coding RNAs to the transcriptional corepressors Sin3A and coREST. 24063527 2013
CUI: C0020429
Disease: Hyperalgesia
Hyperalgesia 		0.200 Biomarker phenotype RGD A role for transcriptional repressor methyl-CpG-binding protein 2 and plasticity-related gene serum- and glucocorticoid-inducible kinase 1 in the induction of inflammatory pain states. 17553988 2007
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.110 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: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.110 Biomarker disease HPO
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		0.100 Biomarker phenotype HPO
CUI: C0003079
Disease: Anisocoria
Anisocoria 		0.100 Biomarker phenotype HPO
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		0.100 Biomarker disease HPO
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.100 Biomarker disease HPO