rs121918524, PHF8

N. diseases: 6
Disease: Siderius X-linked mental retardation syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Siderius X-linked mental retardation syndrome
CUI: C1846055
Disease: Siderius X-linked mental retardation syndrome
0.800 GeneticVariation UNIPROT Structural insights into a novel histone demethylase PHF8. 20101266 2010
Siderius X-linked mental retardation syndrome
CUI: C1846055
Disease: Siderius X-linked mental retardation syndrome
0.800 GeneticVariation UNIPROT A functional link between the histone demethylase PHF8 and the transcription factor ZNF711 in X-linked mental retardation. 20346720 2010
Siderius X-linked mental retardation syndrome
CUI: C1846055
Disease: Siderius X-linked mental retardation syndrome
0.800 GeneticVariation UNIPROT PHF8 targets histone methylation and RNA polymerase II to activate transcription. 20421419 2010
Siderius X-linked mental retardation syndrome
CUI: C1846055
Disease: Siderius X-linked mental retardation syndrome
0.800 GeneticVariation UNIPROT PHF8 activates transcription of rRNA genes through H3K4me3 binding and H3K9me1/2 demethylation. 20208542 2010
Siderius X-linked mental retardation syndrome
CUI: C1846055
Disease: Siderius X-linked mental retardation syndrome
0.800 GeneticVariation UNIPROT The X-linked mental retardation gene PHF8 is a histone demethylase involved in neuronal differentiation. 20548336 2010
Siderius X-linked mental retardation syndrome
CUI: C1846055
Disease: Siderius X-linked mental retardation syndrome
0.800 GeneticVariation UNIPROT Histone H4K20/H3K9 demethylase PHF8 regulates zebrafish brain and craniofacial development. 20622853 2010
Siderius X-linked mental retardation syndrome
CUI: C1846055
Disease: Siderius X-linked mental retardation syndrome
0.800 GeneticVariation UNIPROT PHF8 mediates histone H4 lysine 20 demethylation events involved in cell cycle progression. 20622854 2010
Siderius X-linked mental retardation syndrome
CUI: C1846055
Disease: Siderius X-linked mental retardation syndrome
0.800 GeneticVariation UNIPROT Screening of mutations in the PHF8 gene and identification of a novel mutation in a Finnish family with XLMR and cleft lip/cleft palate. 17661819 2007
Siderius X-linked mental retardation syndrome
CUI: C1846055
Disease: Siderius X-linked mental retardation syndrome
0.800 GeneticVariation UNIPROT Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate. 16199551 2005
Siderius X-linked mental retardation syndrome
CUI: C1846055
Disease: Siderius X-linked mental retardation syndrome
0.800 CausalMutation CLINVAR