Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Hypertrichosis cubiti (hairy elbows) and short stature: a recognisable association.
|
2738900 |
1989 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Rearrangement of the MLL gene in acute lymphoblastic and acute myeloid leukemias with 11q23 chromosomal translocations.
|
8361504 |
1993 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
"Hypertrichosis ""cubiti"" with facial asymmetry."
|
7802037 |
1994 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
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 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
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 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
MLL targets SET domain methyltransferase activity to Hox gene promoters.
|
12453418 |
2002 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Multiple interactions recruit MLL1 and MLL1 fusion proteins to the HOXA9 locus in leukemogenesis.
|
20541448 |
2010 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.
|
20711175 |
2010 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.
|
22077973 |
2011 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome.
|
22197486 |
2012 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
De novo mutations in MLL cause Wiedemann-Steiner syndrome.
|
22795537 |
2012 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Primary mediastinal large B-cell lymphoma segregating in a family: exome sequencing identifies MLL as a candidate predisposition gene.
|
23457195 |
2013 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome.
|
25186178 |
2014 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
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 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.
|
25574841 |
2015 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
A de novo Mutation in KMT2A (MLL) in monozygotic twins with Wiedemann-Steiner syndrome.
|
25929198 |
2015 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.
|
25724810 |
2015 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.
|
26795593 |
2016 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations.
|
25810209 |
2016 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations.
|
27777327 |
2017 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature.
|
28359930 |
2017 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome.
|
27759909 |
2017 |