DLGAP2, DLG associated protein 2, 9228

N. diseases: 22; N. variants: 11
Disease: Isodicentric Chromosome 15 Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3711376
Disease: Isodicentric Chromosome 15 Syndrome
Isodicentric Chromosome 15 Syndrome 		0.010 Biomarker disease BEFREE Oligonucleotide aCGH (oaCGH) showed that she had a classic inv dup del(8)(qter-> p23.1::p23.1-> p21.2) containing at least three candidate genes; MCPH1 and DLGAP2 within the 6.9-Mb terminal deletion and NEF3 within the concomitant 14.1-Mb duplication. 19793310 2009