rs1555039242
×
Entrez Id:
4297
Gene Symbol:
KMT2A
KMT2A
Dysmorphic features
A
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
rs1555039242
×
Entrez Id:
4297
Gene Symbol:
KMT2A
KMT2A
Dysmorphic features
A
0.700
CausalMutation
CLINVAR
A de novo Mutation in KMT2A (MLL) in monozygotic twins with Wiedemann-Steiner syndrome.
25929198
2015
rs1555039242
×
Entrez Id:
4297
Gene Symbol:
KMT2A
KMT2A
Dysmorphic features
A
0.700
CausalMutation
CLINVAR
Multiple interactions recruit MLL1 and MLL1 fusion proteins to the HOXA9 locus in leukemogenesis.
20541448
2010
rs1555039242
×
Entrez Id:
4297
Gene Symbol:
KMT2A
KMT2A
Dysmorphic features
A
0.700
CausalMutation
CLINVAR
Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.
25574841
2015
rs1555039242
×
Entrez Id:
4297
Gene Symbol:
KMT2A
KMT2A
Dysmorphic features
A
0.700
CausalMutation
CLINVAR
Distribution of 11q23 breakpoints within the MLL breakpoint cluster region in de novo acute leukemia and in treatment-related acute myeloid leukemia: correlation with scaffold attachment regions and topoisomerase II consensus binding sites.
8634439
1996
rs1555039242
×
Entrez Id:
4297
Gene Symbol:
KMT2A
KMT2A
Dysmorphic features
A
0.700
CausalMutation
CLINVAR
MLL targets SET domain methyltransferase activity to Hox gene promoters.
12453418
2002
rs1555039242
×
Entrez Id:
4297
Gene Symbol:
KMT2A
KMT2A
Dysmorphic features
A
0.700
CausalMutation
CLINVAR
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.
26795593
2016
rs1555039242
×
Entrez Id:
4297
Gene Symbol:
KMT2A
KMT2A
Dysmorphic features
A
0.700
CausalMutation
CLINVAR
De novo mutations in MLL cause Wiedemann-Steiner syndrome.
22795537
2012
rs1555039242
×
Entrez Id:
4297
Gene Symbol:
KMT2A
KMT2A
Dysmorphic features
A
0.700
CausalMutation
CLINVAR
Rearrangement of the MLL gene in acute lymphoblastic and acute myeloid leukemias with 11q23 chromosomal translocations.
8361504
1993
rs1555039242
×
Entrez Id:
4297
Gene Symbol:
KMT2A
KMT2A
Dysmorphic features
A
0.700
CausalMutation
CLINVAR
Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.
25724810
2015
rs1555039242
×
Entrez Id:
4297
Gene Symbol:
KMT2A
KMT2A
Dysmorphic features
A
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
rs1555039242
×
Entrez Id:
4297
Gene Symbol:
KMT2A
KMT2A
Dysmorphic features
A
0.700
CausalMutation
CLINVAR
Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations.
27777327
2017
rs1555039242
×
Entrez Id:
4297
Gene Symbol:
KMT2A
KMT2A
Dysmorphic features
A
0.700
CausalMutation
CLINVAR
Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome.
25186178
2014
rs1555039242
×
Entrez Id:
4297
Gene Symbol:
KMT2A
KMT2A
Dysmorphic features
A
0.700
CausalMutation
CLINVAR
Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature.
28359930
2017
rs1555039242
×
Entrez Id:
4297
Gene Symbol:
KMT2A
KMT2A
Dysmorphic features
A
0.700
CausalMutation
CLINVAR
Hypertrichosis cubiti (hairy elbows) and short stature: a recognisable association.
2738900
1989
rs1555039242
×
Entrez Id:
4297
Gene Symbol:
KMT2A
KMT2A
Dysmorphic features
A
0.700
CausalMutation
CLINVAR
Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations.
25810209
2016
rs1555039242
×
Entrez Id:
4297
Gene Symbol:
KMT2A
KMT2A
Dysmorphic features
A
0.700
CausalMutation
CLINVAR
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.
20711175
2010
rs1555039242
×
Entrez Id:
4297
Gene Symbol:
KMT2A
KMT2A
Dysmorphic features
A
0.700
CausalMutation
CLINVAR
"Hypertrichosis ""cubiti"" with facial asymmetry."
7802037
1994
rs1555039242
×
Entrez Id:
4297
Gene Symbol:
KMT2A
KMT2A
Dysmorphic features
A
0.700
CausalMutation
CLINVAR
Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome.
27759909
2017
rs1555039242
×
Entrez Id:
4297
Gene Symbol:
KMT2A
KMT2A
Dysmorphic features
A
0.700
CausalMutation
CLINVAR
Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome.
22197486
2012
rs1555039242
×
Entrez Id:
4297
Gene Symbol:
KMT2A
KMT2A
Dysmorphic features
A
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
rs1555039242
×
Entrez Id:
4297
Gene Symbol:
KMT2A
KMT2A
Dysmorphic features
A
0.700
CausalMutation
CLINVAR
De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing.
24886118
2014