Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8091
Gene Symbol: HMGA2
HMGA2
CUI: C4305140
Disease: 12q14 microdeletion syndrome
12q14 microdeletion syndrome
0.340 ChromosomalRearrangement ORPHANET Clinical and molecular characterization of a second family with the 12q14 microdeletion syndrome and review of the literature. 28407409

2017

Entrez Id: 8091
Gene Symbol: HMGA2
HMGA2
CUI: C4305140
Disease: 12q14 microdeletion syndrome
12q14 microdeletion syndrome
0.340 Biomarker BEFREE This case further clarifies the association of LEMD3 deletions with the 12q14 microdeletion syndrome and provides additional support for the role of the HMGA2 gene in human growth. 22987822

2012

Entrez Id: 8091
Gene Symbol: HMGA2
HMGA2
CUI: C4305140
Disease: 12q14 microdeletion syndrome
12q14 microdeletion syndrome
0.340 Biomarker BEFREE The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth. 21267005

2011

Entrez Id: 8091
Gene Symbol: HMGA2
HMGA2
CUI: C4305140
Disease: 12q14 microdeletion syndrome
12q14 microdeletion syndrome
0.340 Biomarker BEFREE Haploinsufficiency of HMGA2 is probably responsible for aberrant growth in 12q14 microdeletion syndrome. 19762329

2010

Entrez Id: 8091
Gene Symbol: HMGA2
HMGA2
CUI: C4305140
Disease: 12q14 microdeletion syndrome
12q14 microdeletion syndrome
0.340 Biomarker BEFREE The 12q14 microdeletion syndrome: additional patients and further evidence that HMGA2 is an important genetic determinant for human height. 19298872

2009