Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 84295
Gene Symbol: PHF6
PHF6
CUI: C0265339
Disease: Borjeson-Forssman-Lehmann syndrome
Borjeson-Forssman-Lehmann syndrome 		1.000 Biomarker CLINGEN The X-linked intellectual disability protein PHF6 associates with the PAF1 complex and regulates neuronal migration in the mammalian brain. 23791194

2013
Entrez Id: 84295
Gene Symbol: PHF6
PHF6
CUI: C0265339
Disease: Borjeson-Forssman-Lehmann syndrome
Borjeson-Forssman-Lehmann syndrome 		1.000 Biomarker CLINGEN A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. 23906836

2013
Entrez Id: 84295
Gene Symbol: PHF6
PHF6
CUI: C0265339
Disease: Borjeson-Forssman-Lehmann syndrome
Borjeson-Forssman-Lehmann syndrome 		1.000 Biomarker CLINGEN PHF6 interacts with the nucleosome remodeling and deacetylation (NuRD) complex. 22720776

2012
Entrez Id: 84295
Gene Symbol: PHF6
PHF6
CUI: C0265339
Disease: Borjeson-Forssman-Lehmann syndrome
Borjeson-Forssman-Lehmann syndrome 		1.000 Biomarker CLINGEN Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient. 15994862

2006
Entrez Id: 84295
Gene Symbol: PHF6
PHF6
CUI: C0265339
Disease: Borjeson-Forssman-Lehmann syndrome
Borjeson-Forssman-Lehmann syndrome 		1.000 Biomarker CLINGEN A novel PHF6 mutation results in enhanced exon skipping and mild Börjeson-Forssman-Lehmann syndrome. 15466013

2004
Entrez Id: 84295
Gene Symbol: PHF6
PHF6
CUI: C0265339
Disease: Borjeson-Forssman-Lehmann syndrome
Borjeson-Forssman-Lehmann syndrome 		1.000 Biomarker CLINGEN 1024C> T (R342X) is a recurrent PHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family. 15241480

2004
Entrez Id: 84295
Gene Symbol: PHF6
PHF6
CUI: C0265339
Disease: Borjeson-Forssman-Lehmann syndrome
Borjeson-Forssman-Lehmann syndrome 		1.000 Biomarker CLINGEN Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome. 12415272

2002