KIAA1109, KIAA1109, 84162

N. diseases: 86; N. variants: 30
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
0.020 Biomarker disease BEFREE FRAXE (FMR2) is a fragile site associated with mental impairment located in Xq28, 600 kb distal to FRAXA (FMR1), the fragile X syndrome fragile site. 11462240 2001
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
0.020 Biomarker disease BEFREE However, the possibility exists that the common fragile site at Xq27 may be the substrate for unequal recombination events that produces the rare fragile site associated with Martin-Bell syndrome. 3358421 1988