KMT2A, lysine methyltransferase 2A, 4297

N. diseases: 535; N. variants: 65
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518074
rs1057518074
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C1854630
Disease:
Growth Deficiency and Mental Retardation with Facial Dysmorphism 		A 0.700 GeneticVariation CLINVAR Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes. 25724810 2015
dbSNP: rs1057518074
rs1057518074
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C1854630
Disease:
Growth Deficiency and Mental Retardation with Facial Dysmorphism 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1057518074
rs1057518074
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C1854630
Disease:
Growth Deficiency and Mental Retardation with Facial Dysmorphism 		A 0.700 GeneticVariation CLINVAR Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers. 27441994 2017
dbSNP: rs1057519403
rs1057519403
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C1843367
Disease:
Poor school performance 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057519403
rs1057519403
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C1854630
Disease:
Growth Deficiency and Mental Retardation with Facial Dysmorphism 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057519407
rs1057519407
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C1854630
Disease:
Growth Deficiency and Mental Retardation with Facial Dysmorphism 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1057519408
rs1057519408
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C1854630
Disease:
Growth Deficiency and Mental Retardation with Facial Dysmorphism 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1057519408
rs1057519408
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C1843367
Disease:
Poor school performance 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1064939
rs1064939
Entrez Id: 4297;143941;101929089
Gene Symbol: KMT2A;TTC36;LOC101929089
KMT2A;TTC36;LOC101929089
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1064939
rs1064939
Entrez Id: 4297;143941;101929089
Gene Symbol: KMT2A;TTC36;LOC101929089
KMT2A;TTC36;LOC101929089
CUI: C1305855
Disease:
Body mass index 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1131691433
rs1131691433
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C1854630
Disease:
Growth Deficiency and Mental Retardation with Facial Dysmorphism 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1131691503
rs1131691503
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C1854630
Disease:
Growth Deficiency and Mental Retardation with Facial Dysmorphism 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1131692268
rs1131692268
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C1854630
Disease:
Growth Deficiency and Mental Retardation with Facial Dysmorphism 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1131692268
rs1131692268
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0557874
Disease:
Global developmental delay 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1135401764
rs1135401764
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C1854630
Disease:
Growth Deficiency and Mental Retardation with Facial Dysmorphism 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1135401764
rs1135401764
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C1843367
Disease:
Poor school performance 		A 0.700 CausalMutation CLINVAR
dbSNP: rs150800017
rs150800017
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations. 25810209 2016
dbSNP: rs150800017
rs150800017
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Abnormalities of chromosome band 11q23 and the MLL gene in pediatric myelomonocytic and monoblastic leukemias. Identification of the t(9;11) as an indicator of long survival. 7583381 1995
dbSNP: rs150800017
rs150800017
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome. 27759909 2017
dbSNP: rs150800017
rs150800017
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome. 22077973 2011
dbSNP: rs150800017
rs150800017
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR MLL targets SET domain methyltransferase activity to Hox gene promoters. 12453418 2002
dbSNP: rs150800017
rs150800017
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Rearrangement of the MLL gene in acute lymphoblastic and acute myeloid leukemias with 11q23 chromosomal translocations. 8361504 1993
dbSNP: rs150800017
rs150800017
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Primary mediastinal large B-cell lymphoma segregating in a family: exome sequencing identifies MLL as a candidate predisposition gene. 23457195 2013
dbSNP: rs150800017
rs150800017
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR A de novo Mutation in KMT2A (MLL) in monozygotic twins with Wiedemann-Steiner syndrome. 25929198 2015
dbSNP: rs150800017
rs150800017
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR "Hypertrichosis ""cubiti"" with facial asymmetry." 7802037 1994