Gene: PHF6 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 84295
Gene Symbol: PHF6
PHF6 		0.100 CausalMutation group CLINVAR Pathogenesis of Börjeson-Forssman-Lehmann syndrome: Insights from PHF6 function. 27633282 2016
Entrez Id: 84295
Gene Symbol: PHF6
PHF6 		0.100 CausalMutation group CLINVAR Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency. 27094817 2016
Entrez Id: 84295
Gene Symbol: PHF6
PHF6 		0.100 CausalMutation group CLINVAR A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype. 24092917 2013
Entrez Id: 84295
Gene Symbol: PHF6
PHF6 		0.100 CausalMutation group CLINVAR The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations. 14756673 2004
Entrez Id: 84295
Gene Symbol: PHF6
PHF6 		0.100 CausalMutation group CLINVAR Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome. 12415272 2002
Entrez Id: 84295
Gene Symbol: PHF6
PHF6 		0.100 CausalMutation group CLINVAR An X-linked, recessively inherited syndrome characterized by grave mental deficiency, epilepsy, and endocrine disorder. 13871358 1962