PHF6, PHD finger protein 6, 84295

N. diseases: 122; N. variants: 16
Disease: Borjeson-Forssman-Lehmann syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs132630300
rs132630300
Entrez Id: 84295
Gene Symbol: PHF6
PHF6
CUI: C0265339
Disease:
Borjeson-Forssman-Lehmann syndrome 		C 0.700 CausalMutation CLINVAR Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient. 15994862 2006
dbSNP: rs132630300
rs132630300
Entrez Id: 84295
Gene Symbol: PHF6
PHF6
CUI: C0265339
Disease:
Borjeson-Forssman-Lehmann syndrome 		C 0.700 CausalMutation CLINVAR Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome. 12415272 2002