KDM6A, lysine demethylase 6A, 7403

N. diseases: 238; N. variants: 22
Disease: KABUKI SYNDROME 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1135401809
rs1135401809
Entrez Id: 7403
Gene Symbol: KDM6A
KDM6A
CUI: C3275495
Disease:
KABUKI SYNDROME 2 		A 0.700 CausalMutation CLINVAR Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2. 27302555 2016
dbSNP: rs1135401809
rs1135401809
Entrez Id: 7403
Gene Symbol: KDM6A
KDM6A
CUI: C3275495
Disease:
KABUKI SYNDROME 2 		A 0.700 CausalMutation CLINVAR KDM6A point mutations cause Kabuki syndrome. 23076834 2013
dbSNP: rs1135401809
rs1135401809
Entrez Id: 7403
Gene Symbol: KDM6A
KDM6A
CUI: C3275495
Disease:
KABUKI SYNDROME 2 		C 0.700 CausalMutation CLINVAR