HMGA2, high mobility group AT-hook 2, 8091

N. diseases: 382; N. variants: 23
Disease: Congenital chromosomal disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		0.100 GeneticVariation group BEFREE They often carry chromosome aberrations involving 12q13~15 leading to rearrangements of the HMGA2 gene in 12q14.3, with breakpoints occurring within or outside of the gene. 26202160 2015
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		0.100 GeneticVariation group BEFREE In a total of 80 cytogenetically characterized fibroids from 50 patients, we were not only able to confirm the frequent occurrence of MED12 mutations but also to stratify two mutually exclusive pathways of leiomyomagenesis with either rearrangements of HMGA2 reflected by clonal chromosome abnormalities affecting 12q14~15 or by mutations affecting exon 2 of MED12. 22223266 2012
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		0.100 Biomarker group BEFREE There are only a few reports of the cytogenetic abnormalities in the pleomorphic adenomas (PA) that arise in children, and even less information regarding the pleomorphic adenoma gene 1 (PLAG1) and high motility group A2 (HMGA2 ) histochemical staining in PAs, or their correlation with histologic types (stromal vs epithelial predominance). 20055685 2011
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		0.100 Biomarker group BEFREE The significant (P < 0.05) overexpression of HMGA2 also in the group of fibroids without chromosomal aberrations of the 12q14-15 region suggests a general role of HMGA2 in the development of the disease. 18980243 2009
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		0.100 Biomarker group BEFREE Moreover, HMGA2 alone was sufficient to induce chromosomal aberrations, a hallmark of deficiency in NHEJ-mediated DNA repair. 19549901 2009
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		0.100 GeneticVariation group BEFREE Rearrangement of HMGA2 in chromosome band 12q15 has been found in approximately 60-70% of ordinary lipomas with cytogenetic abnormalities. 19431195 2009
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		0.100 Biomarker group BEFREE Well-differentiated liposarcomas (WDLPS) classically contain high-level amplification of 12q14-15 sequences, including the MDM2 and CDK4 genes, while lipomas are characterized by simple structural chromosome aberrations often involving HMGA2 at 12q15. 17372913 2007
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		0.100 Biomarker group BEFREE Fusion of RDC1 with HMGA2 in lipomas as the result of chromosome aberrations involving 2q35-37 and 12q13-15. 12118328 2002
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		0.100 Biomarker group BEFREE As for a mechanism explaining this observation, it can be suggested that breakpoints of chromosomal aberrations not directly disrupting HMGIC may induce small genomic alterations in their vicinity and thus facilitate abnormal splicing. 11170289 2001
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		0.100 Biomarker group BEFREE These HMGIC aberrations are caused by characteristic structural chromosomal aberrations, either visible by conventional cytogenetics or as cryptic abnormalities. 9466569 1998
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		0.100 AlteredExpression group BEFREE The developmentally regulated HMGIC gene, which encodes an architectural transcription factor, has recently been linked to the pathogenesis of benign solid tumors with chromosome aberrations involving 12q13-15. 8988031 1997
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		0.100 AlteredExpression group BEFREE HMGIC expressed in a uterine leiomyoma with a deletion of the long arm of chromosome 7 along with a 12q14-15 rearrangement but not in tumors showing del(7) as the sole cytogenetic abnormality. 9216720 1997
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		0.100 Biomarker group BEFREE Because of these cytogenetic aberrations the HMGI-C gene (HGMW-approved symbol HMGIC) becomes rearranged, with most of the breakpoints located in the large intron 3. 8954805 1996
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		0.100 GeneticVariation group BEFREE Recently, we identified rearrangements of the HMGI-C gene within the third or fourth intron as the molecular mechanism underlying most of these chromosomal aberrations. 8603366 1996
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		0.100 Biomarker group BEFREE HMGI-C is often truncated by the chromosomal aberrations and fused to ectopic DNA sequences leading to fusion genes. 9238692 1996