KDM6A, lysine demethylase 6A, 7403

N. diseases: 238; N. variants: 22
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3275495
Disease: KABUKI SYNDROME 2
KABUKI SYNDROME 2
0.400 Biomarker disease GENOMICS_ENGLAND Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals. 29907798 2019
CUI: C3275495
Disease: KABUKI SYNDROME 2
KABUKI SYNDROME 2
0.400 Biomarker disease GENOMICS_ENGLAND Genetic analysis of CHARGE syndrome identifies overlapping molecular biology. 29300383 2018
CUI: C3275495
Disease: KABUKI SYNDROME 2
KABUKI SYNDROME 2
0.400 CausalMutation disease CLINVAR Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2. 27302555 2016
CUI: C3275495
Disease: KABUKI SYNDROME 2
KABUKI SYNDROME 2
0.400 GeneticVariation disease CLINVAR Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development. 25972376 2015
CUI: C3275495
Disease: KABUKI SYNDROME 2
KABUKI SYNDROME 2
0.400 Biomarker disease GENOMICS_ENGLAND A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A. 24664873 2014
CUI: C3275495
Disease: KABUKI SYNDROME 2
KABUKI SYNDROME 2
0.400 Biomarker disease GENOMICS_ENGLAND Clinical and molecular spectrum of renal malformations in Kabuki syndrome. 23535010 2013
CUI: C3275495
Disease: KABUKI SYNDROME 2
KABUKI SYNDROME 2
0.400 GeneticVariation disease CLINVAR KDM6A point mutations cause Kabuki syndrome. 23076834 2013
CUI: C3275495
Disease: KABUKI SYNDROME 2
KABUKI SYNDROME 2
0.400 CausalMutation disease CLINVAR KDM6A point mutations cause Kabuki syndrome. 23076834 2013
CUI: C3275495
Disease: KABUKI SYNDROME 2
KABUKI SYNDROME 2
0.400 Biomarker disease GENOMICS_ENGLAND Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome. 22197486 2012