| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
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
|
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
|
0.800 | GeneticVariation | UNIPROT | PHF8 targets histone methylation and RNA polymerase II to activate transcription. | 20421419 | 2010 | |||||
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
|
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
|
0.800 | GeneticVariation | UNIPROT | Histone H4K20/H3K9 demethylase PHF8 regulates zebrafish brain and craniofacial development. | 20622853 | 2010 | |||||
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
|
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
|
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
|
0.800 | CausalMutation | CLINVAR | ||||||||
Mental Retardation
|
0.010 | GeneticVariation | BEFREE | The PHF8 missense mutation c.836C>T is associated with mild MR, mild dysmorphic features, and either unilateral or bilateral cleft lip and cleft palate in two male siblings. | 19843542 | 2010 | |||||
Intellectual Disability
|
0.010 | GeneticVariation | BEFREE | The PHF8 missense mutation c.836C>T is associated with mild MR, mild dysmorphic features, and either unilateral or bilateral cleft lip and cleft palate in two male siblings. | 19843542 | 2010 | |||||
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 | |||||
Cleft palate and bilateral cleft lip
|
0.010 | GeneticVariation | BEFREE | The PHF8 missense mutation c.836C>T is associated with mild MR, mild dysmorphic features, and either unilateral or bilateral cleft lip and cleft palate in two male siblings. | 19843542 | 2010 | |||||
Dysmorphic features
|
0.010 | GeneticVariation | BEFREE | The PHF8 missense mutation c.836C>T is associated with mild MR, mild dysmorphic features, and either unilateral or bilateral cleft lip and cleft palate in two male siblings. | 19843542 | 2010 |