SIM2, SIM bHLH transcription factor 2, 6493

N. diseases: 69; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.300 Biomarker disease CTD_human Craniofacial abnormalities resulting from targeted disruption of the murine Sim2 gene. 12203729 2002
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		0.300 Biomarker group CTD_human Craniofacial abnormalities resulting from targeted disruption of the murine Sim2 gene. 12203729 2002
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		0.300 Biomarker disease CTD_human Craniofacial abnormalities resulting from targeted disruption of the murine Sim2 gene. 12203729 2002
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.100 AlteredExpression disease BEFREE Single-minded 2 (Sim2), a transcriptional repressor, is reportedly involved in diseases that impair learning and memory, such as Down syndrome (DS) and Alzheimer's disease. 25319570 2015
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.100 AlteredExpression disease BEFREE Single-minded 2 (Sim2), a transcriptional repressor, is reportedly involved in diseases that impair learning and memory, such as Down syndrome (DS) and Alzheimer's disease. 25319570 2015
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.100 GeneticVariation disease BEFREE Here we studied functional genetic polymorphisms (fSNP) in ETS2 and SIM2 encoding genes in a group of patients and control subjects to better understand association of these variants with DS phenotypes. 23343470 2013
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.100 GeneticVariation disease BEFREE Here we studied functional genetic polymorphisms (fSNP) in ETS2 and SIM2 encoding genes in a group of patients and control subjects to better understand association of these variants with DS phenotypes. 23343470 2013
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.100 Biomarker disease BEFREE These results suggest that MAD2B may mediate Sim2 function during development in CNS and thereby play a critical role in pathophysiological mechanisms in DS. 22660985 2012
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.100 Biomarker disease BEFREE These results suggest that MAD2B may mediate Sim2 function during development in CNS and thereby play a critical role in pathophysiological mechanisms in DS. 22660985 2012
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.100 GeneticVariation disease BEFREE Significantly lower frequency of SIM2 C-G haplotype (rs2073601-rs2073416) was noticed in individuals with DS (P value =0.01669) and their fathers (P value=0.01185). 22048266 2011
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.100 GeneticVariation disease BEFREE Significantly lower frequency of SIM2 C-G haplotype (rs2073601-rs2073416) was noticed in individuals with DS (P value =0.01669) and their fathers (P value=0.01185). 22048266 2011
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.100 Biomarker disease BEFREE SIM2 was initially identified by positional cloning on chromosome 21 and is thought to contribute to the etiology of trisomy-21 [Down syndrome (DS)]. 16840439 2007
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.100 AlteredExpression disease LHGDN We previously localized SIM2 in a chromosome 21 critical region for Down syndrome (DS). 15946822 2005
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.100 Biomarker disease BEFREE Drebrin has been reported to be engaged in dendritic-cytoskeleton modulation at synapses, and such a novel NXF signaling system on neural gene promoter may be a molecular target of the adverse effects of Sim2 in the mental retardation of Down's syndrome. 14701734 2004
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.100 Biomarker disease BEFREE Drebrin has been reported to be engaged in dendritic-cytoskeleton modulation at synapses, and such a novel NXF signaling system on neural gene promoter may be a molecular target of the adverse effects of Sim2 in the mental retardation of Down's syndrome. 14701734 2004
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.100 GeneticVariation disease BEFREE Identification of Down's syndrome critical locus gene SIM2-s as a drug therapy target for solid tumors. 12676991 2003
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.100 AlteredExpression disease BEFREE BACH1 was significantly overexpressed in fetal DS (p < 0.008) as compared to controls whereas RUNX1 and ERG proteins were comparable between groups, and SIM2 l was not detectable in any specimen. 15068251 2003
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.100 AlteredExpression disease BEFREE BACH1 was significantly overexpressed in fetal DS (p < 0.008) as compared to controls whereas RUNX1 and ERG proteins were comparable between groups, and SIM2 l was not detectable in any specimen. 15068251 2003
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.100 GeneticVariation disease BEFREE Identification of Down's syndrome critical locus gene SIM2-s as a drug therapy target for solid tumors. 12676991 2003
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.100 GeneticVariation disease BEFREE There are no previous reports of this combination, but there are genetic links between Down syndrome and midline defects concerning the Drosophila single-minded (sim) gene. 12174971 2002
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.100 GeneticVariation disease BEFREE There are no previous reports of this combination, but there are genetic links between Down syndrome and midline defects concerning the Drosophila single-minded (sim) gene. 12174971 2002