KDM6A, lysine demethylase 6A, 7403

N. diseases: 238; N. variants: 22
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: rs1556308480
rs1556308480
Entrez Id: 7403
Gene Symbol: KDM6A
KDM6A
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 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: rs1556308480
rs1556308480
Entrez Id: 7403
Gene Symbol: KDM6A
KDM6A
CUI: C0432072
Disease:
Dysmorphic features 		T 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: rs1556308480
rs1556308480
Entrez Id: 7403
Gene Symbol: KDM6A
KDM6A
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2). 24527667 2015
dbSNP: rs1556308480
rs1556308480
Entrez Id: 7403
Gene Symbol: KDM6A
KDM6A
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2). 24527667 2015
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
dbSNP: rs793888510
rs793888510
Entrez Id: 7403
Gene Symbol: KDM6A
KDM6A
CUI: C3275495
Disease:
KABUKI SYNDROME 2 		C 0.700 GeneticVariation CLINVAR Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development. 25972376 2015
dbSNP: rs1556308480
rs1556308480
Entrez Id: 7403
Gene Symbol: KDM6A
KDM6A
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A. 24664873 2014
dbSNP: rs1556308480
rs1556308480
Entrez Id: 7403
Gene Symbol: KDM6A
KDM6A
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A. 24664873 2014
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: rs1556308480
rs1556308480
Entrez Id: 7403
Gene Symbol: KDM6A
KDM6A
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR MLL2 and KDM6A mutations in patients with Kabuki syndrome. 23913813 2013
dbSNP: rs1556308480
rs1556308480
Entrez Id: 7403
Gene Symbol: KDM6A
KDM6A
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR KDM6A point mutations cause Kabuki syndrome. 23076834 2013
dbSNP: rs1556308480
rs1556308480
Entrez Id: 7403
Gene Symbol: KDM6A
KDM6A
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR KDM6A point mutations cause Kabuki syndrome. 23076834 2013
dbSNP: rs1556308480
rs1556308480
Entrez Id: 7403
Gene Symbol: KDM6A
KDM6A
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate. 23354975 2013
dbSNP: rs1556308480
rs1556308480
Entrez Id: 7403
Gene Symbol: KDM6A
KDM6A
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR MLL2 and KDM6A mutations in patients with Kabuki syndrome. 23913813 2013
dbSNP: rs1556308480
rs1556308480
Entrez Id: 7403
Gene Symbol: KDM6A
KDM6A
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate. 23354975 2013
dbSNP: rs1569537333
rs1569537333
Entrez Id: 7403
Gene Symbol: KDM6A
KDM6A
CUI: C3275495
Disease:
KABUKI SYNDROME 2 		C 0.700 GeneticVariation CLINVAR KDM6A point mutations cause Kabuki syndrome. 23076834 2013
dbSNP: rs1556308480
rs1556308480
Entrez Id: 7403
Gene Symbol: KDM6A
KDM6A
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR UTX, a histone H3-lysine 27 demethylase, acts as a critical switch to activate the cardiac developmental program. 22192413 2012
dbSNP: rs1556308480
rs1556308480
Entrez Id: 7403
Gene Symbol: KDM6A
KDM6A
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome. 22197486 2012
dbSNP: rs1556308480
rs1556308480
Entrez Id: 7403
Gene Symbol: KDM6A
KDM6A
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome. 22197486 2012
dbSNP: rs1556308480
rs1556308480
Entrez Id: 7403
Gene Symbol: KDM6A
KDM6A
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR UTX, a histone H3-lysine 27 demethylase, acts as a critical switch to activate the cardiac developmental program. 22192413 2012
dbSNP: rs1556308480
rs1556308480
Entrez Id: 7403
Gene Symbol: KDM6A
KDM6A
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients. 21658225 2011
dbSNP: rs1556308480
rs1556308480
Entrez Id: 7403
Gene Symbol: KDM6A
KDM6A
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome. 21671394 2011
dbSNP: rs1556308480
rs1556308480
Entrez Id: 7403
Gene Symbol: KDM6A
KDM6A
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients. 21658225 2011
dbSNP: rs1556308480
rs1556308480
Entrez Id: 7403
Gene Symbol: KDM6A
KDM6A
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR MLL2 mutation spectrum in 45 patients with Kabuki syndrome. 21280141 2011