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: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked
0.020 GeneticVariation disease BEFREE FRAXE fragile site associated mental retardation remains unique among X-linked mental retardation phenotypes due to its very mild to borderline nature (50< IQ< 85). 11246464 2000
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked
0.020 Biomarker disease BEFREE These observations and the well-established knowledge that the genes for Deutan and Protan colorblindness are closely linked to G6PD, but segregate independently of factor IX deficiency, suggest that the fragile site associated with this type of X-linked mental retardation occurs in a region prone to high frequency of meiotic recombination. 6595664 1984