Gene: PHF8 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23133
Gene Symbol: PHF8
PHF8 		0.110 CausalMutation disease CLINVAR Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. 25167861 2014
Entrez Id: 23133
Gene Symbol: PHF8
PHF8 		0.110 CausalMutation disease CLINVAR Histone H4K20/H3K9 demethylase PHF8 regulates zebrafish brain and craniofacial development. 20622853 2010
Entrez Id: 23133
Gene Symbol: PHF8
PHF8 		0.110 GeneticVariation disease 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
Entrez Id: 23133
Gene Symbol: PHF8
PHF8 		0.110 CausalMutation disease CLINVAR PHF8, a gene associated with cleft lip/palate and mental retardation, encodes for an Nepsilon-dimethyl lysine demethylase. 19843542 2010
Entrez Id: 23133
Gene Symbol: PHF8
PHF8 		0.110 CausalMutation disease CLINVAR Autism-associated familial microdeletion of Xp11.22. 18498374 2008
Entrez Id: 23133
Gene Symbol: PHF8
PHF8 		0.110 CausalMutation disease CLINVAR A novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palate. 17594395 2007
Entrez Id: 23133
Gene Symbol: PHF8
PHF8 		0.110 CausalMutation disease CLINVAR 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
Entrez Id: 23133
Gene Symbol: PHF8
PHF8 		0.110 CausalMutation disease CLINVAR Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate. 16199551 2005