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: C4551683
Disease: Adrenal Gland Pheochromocytoma
Adrenal Gland Pheochromocytoma
0.010 Biomarker disease BEFREE To define the molecular changes occurring in endocrine tumours, we have analysed three human endocrine tumours established in our laboratory: BON, a functioning carcinoid tumour from the pancreas; SIM, a nonfunctioning carcinoid of the ileum; and STAN, a pheochromocytoma. 7952399 1994
CUI: C2347747
Disease: Adult Classical Hodgkin Lymphoma
Adult Classical Hodgkin Lymphoma
0.010 Biomarker disease BEFREE Recent super-resolution fluorescence microscopy (3D-Structured Illumination Microscopy, 3D-SIM) studies have revealed significantly altered nuclear organization between normal lymphocyte nuclei and those of classical Hodgkin's Lymphoma. 30327804 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.020 Biomarker 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: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.020 Biomarker disease BEFREE SIM2 and RUNX1 were comparable between groups, while BACH1 was significantly reduced in DS, and ERG was increased in DS and AD as compared to controls. 15068237 2003
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia
0.010 AlteredExpression disease BEFREE In a matched set of tissues of Benign Prostatic Hyperplasia (BPH) and prostate carcinomas, sim2-s expression was detected in the BPH. 12530058 2003
CUI: C0005890
Disease: Body Height
Body Height
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.010 AlteredExpression group BEFREE In present study, we found that SIM2-s was expressed in glioma tissues as well as in glioblastoma (GBM) cell lines but not in other brain tumors or normal cortex. 20448453 2010
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.040 AlteredExpression disease BEFREE Consistent with its role as a transcriptional repressor, SIM2s directly decreased expression of matrix metalloprotease-3, a known mediator of breast cancer metastasis. 16840439 2007
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.040 AlteredExpression disease BEFREE Cross-talk between SIM2s and NFκB regulates cyclooxygenase 2 expression in breast cancer. 31783895 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.040 AlteredExpression disease BEFREE We have previously shown that Singleminded-2s (SIM2s), a member of the basic helix-loop-helix Per-Arnt-Sim (bHLH/PAS) family of transcription factors, is downregulated in breast cancer samples and has tumor suppressor activity. 19169276 2009
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.040 Biomarker disease BEFREE Initial analysis of the effect loss of SIM2s has on replication stress resolution was conducted using DNA combing assays in established breast cancer cell lines. 31775907 2019
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.010 Biomarker phenotype BEFREE Additionally, knockdown of SIM2s in MCF-7 breast cancer cells contributed to an epithelial-mesenchymal transition (EMT) and increased tumorigenesis. 18160708 2008
CUI: C0007095
Disease: Carcinoid Tumor
Carcinoid Tumor
0.020 Biomarker phenotype BEFREE To define the molecular changes occurring in endocrine tumours, we have analysed three human endocrine tumours established in our laboratory: BON, a functioning carcinoid tumour from the pancreas; SIM, a nonfunctioning carcinoid of the ileum; and STAN, a pheochromocytoma. 7952399 1994
CUI: C0007095
Disease: Carcinoid Tumor
Carcinoid Tumor
0.020 Biomarker phenotype BEFREE The differential polymerase chain reaction procedure was used to detect genomic amplification in DNA samples from human endocrine tumor cell lines (BON, SIM, STAN) and from paraffin-embedded samples of carcinoid tumors. 1353638 1992
CUI: C0334299
Disease: Carcinoid tumor no ICD-O subtype
Carcinoid tumor no ICD-O subtype
0.010 Biomarker phenotype BEFREE To define the molecular changes occurring in endocrine tumours, we have analysed three human endocrine tumours established in our laboratory: BON, a functioning carcinoid tumour from the pancreas; SIM, a nonfunctioning carcinoid of the ileum; and STAN, a pheochromocytoma. 7952399 1994
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.010 Biomarker group BEFREE Isoform-specific expression of SIM2 short-form (SIM2-s) was seen selectively in colon, prostate, and pancreatic carcinomas but not in breast, lung, or ovarian carcinomas nor in most normal tissues. 12676991 2003
CUI: C0279671
Disease: Cervical Squamous Cell Carcinoma
Cervical Squamous Cell Carcinoma
0.010 Biomarker disease BEFREE SIM2 knockdown in CvSCC cell lines showed resistance to hypoxia with increased expression of HIF1A and its target genes. 29109451 2017
CUI: C1333064
Disease: Classical Hodgkin's Lymphoma
Classical Hodgkin's Lymphoma
0.010 Biomarker disease BEFREE Recent super-resolution fluorescence microscopy (3D-Structured Illumination Microscopy, 3D-SIM) studies have revealed significantly altered nuclear organization between normal lymphocyte nuclei and those of classical Hodgkin's Lymphoma. 30327804 2018
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: 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: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.020 AlteredExpression disease BEFREE Antisense inhibition of SIM2-s expression in a colon cancer cell line caused inhibition of gene expression, growth inhibition, and apoptosis. 12676991 2003
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.020 Biomarker disease BEFREE Antisense inhibition of SIM2-s in a RKO-derived colon carcinoma cell line causes growth inhibition, apoptosis, and inhibition of tumor growth in a nude mouse tumoriginicity model. 16129820 2005
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
0.020 AlteredExpression group BEFREE Stage-specific expression of the sim2-s protein was seen in normal matched paraffin sections of the colon tumors. 12530058 2003
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
0.020 AlteredExpression group BEFREE A Down's syndrome associated gene, Single Minded 2 gene short form (SIM2-s), is specifically expressed in colon tumors but not in the normal colon. 16129820 2005
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.020 GeneticVariation disease BEFREE The SIM-AIMS assay could also detect WT and V600E BRAF in CRC specimens, but the measured levels of both targets were lower than those determined by MRM assay. 27497007 2016