rs525549
×
Entrez Id:
4297
Gene Symbol:
KMT2A
KMT2A
Childhood Acute Lymphoblastic Leukemia
0.010
GeneticVariation
BEFREE
Two SNPs within MLL (rs525549 and rs6589664) and three SNPs within EP300 (rs5758222, rs7286979, and rs20551) were significantly associated with ALL (P = 0.001-0.04).
21493871
2011
rs525549
×
Entrez Id:
4297
Gene Symbol:
KMT2A
KMT2A
Acute lymphocytic leukemia
0.010
GeneticVariation
BEFREE
Two SNPs within MLL (rs525549 and rs6589664) and three SNPs within EP300 (rs5758222, rs7286979, and rs20551) were significantly associated with ALL (P = 0.001-0.04).
21493871
2011
rs525549
×
Entrez Id:
4297
Gene Symbol:
KMT2A
KMT2A
Adult Acute Lymphocytic Leukemia
0.010
GeneticVariation
BEFREE
Two SNPs within MLL (rs525549 and rs6589664) and three SNPs within EP300 (rs5758222, rs7286979, and rs20551) were significantly associated with ALL (P = 0.001-0.04).
21493871
2011
rs1057518074
×
Entrez Id:
4297
Gene Symbol:
KMT2A
KMT2A
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
rs1057518074
×
Entrez Id:
4297
Gene Symbol:
KMT2A
KMT2A
Growth Deficiency and Mental Retardation with Facial Dysmorphism
A
0.700
CausalMutation
CLINVAR
rs1057518074
×
Entrez Id:
4297
Gene Symbol:
KMT2A
KMT2A
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
rs1057519403
×
Entrez Id:
4297
Gene Symbol:
KMT2A
KMT2A
Poor school performance
A
0.700
GeneticVariation
CLINVAR
rs1057519403
×
Entrez Id:
4297
Gene Symbol:
KMT2A
KMT2A
Growth Deficiency and Mental Retardation with Facial Dysmorphism
A
0.700
GeneticVariation
CLINVAR
rs1057519407
×
Entrez Id:
4297
Gene Symbol:
KMT2A
KMT2A
Growth Deficiency and Mental Retardation with Facial Dysmorphism
A
0.700
CausalMutation
CLINVAR
rs1057519408
×
Entrez Id:
4297
Gene Symbol:
KMT2A
KMT2A
Growth Deficiency and Mental Retardation with Facial Dysmorphism
G
0.700
CausalMutation
CLINVAR
rs1057519408
×
Entrez Id:
4297
Gene Symbol:
KMT2A
KMT2A
Poor school performance
G
0.700
CausalMutation
CLINVAR
rs1131691433
×
Entrez Id:
4297
Gene Symbol:
KMT2A
KMT2A
Growth Deficiency and Mental Retardation with Facial Dysmorphism
G
0.700
GeneticVariation
CLINVAR
rs1131691503
×
Entrez Id:
4297
Gene Symbol:
KMT2A
KMT2A
Growth Deficiency and Mental Retardation with Facial Dysmorphism
A
0.700
GeneticVariation
CLINVAR
rs1131692268
×
Entrez Id:
4297
Gene Symbol:
KMT2A
KMT2A
Growth Deficiency and Mental Retardation with Facial Dysmorphism
C
0.700
CausalMutation
CLINVAR
rs1131692268
×
Entrez Id:
4297
Gene Symbol:
KMT2A
KMT2A
Global developmental delay
C
0.700
CausalMutation
CLINVAR
rs1135401764
×
Entrez Id:
4297
Gene Symbol:
KMT2A
KMT2A
Growth Deficiency and Mental Retardation with Facial Dysmorphism
A
0.700
CausalMutation
CLINVAR
rs1135401764
×
Entrez Id:
4297
Gene Symbol:
KMT2A
KMT2A
Poor school performance
A
0.700
CausalMutation
CLINVAR
rs150800017
×
Entrez Id:
4297
Gene Symbol:
KMT2A
KMT2A
Dysmorphic features
T
0.700
CausalMutation
CLINVAR
Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations.
25810209
2016
rs150800017
×
Entrez Id:
4297
Gene Symbol:
KMT2A
KMT2A
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
rs150800017
×
Entrez Id:
4297
Gene Symbol:
KMT2A
KMT2A
Dysmorphic features
T
0.700
CausalMutation
CLINVAR
Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome.
27759909
2017
rs150800017
×
Entrez Id:
4297
Gene Symbol:
KMT2A
KMT2A
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
rs150800017
×
Entrez Id:
4297
Gene Symbol:
KMT2A
KMT2A
Dysmorphic features
T
0.700
CausalMutation
CLINVAR
MLL targets SET domain methyltransferase activity to Hox gene promoters.
12453418
2002
rs150800017
×
Entrez Id:
4297
Gene Symbol:
KMT2A
KMT2A
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
rs150800017
×
Entrez Id:
4297
Gene Symbol:
KMT2A
KMT2A
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
rs150800017
×
Entrez Id:
4297
Gene Symbol:
KMT2A
KMT2A
Dysmorphic features
T
0.700
CausalMutation
CLINVAR
A de novo Mutation in KMT2A (MLL) in monozygotic twins with Wiedemann-Steiner syndrome.
25929198
2015