rs121918524, PHF8

N. diseases: 6
Disease: Mental Retardation, X-Linked ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Mental Retardation, X-Linked
CUI: C1136249
Disease: Mental Retardation, X-Linked
0.010 GeneticVariation BEFREE Importantly, a mutant PHF8 (phenylalanine at position 279 to serine) identified in the XLMR patients is defective in enzymatic activity, indicating that the loss of histone demethylase activity is causally linked with the onset of disease. 20548336 2010