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: rs793888509
rs793888509
Entrez Id: 7403
Gene Symbol: KDM6A
KDM6A
CUI: C3275495
Disease:
KABUKI SYNDROME 2 		A 0.700 GeneticVariation CLINVAR Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development. 25972376 2015