KMT2A, lysine methyltransferase 2A, 4297

N. diseases: 535; N. variants: 65
Disease: Muscle hypotonia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555039242
rs1555039242
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome. 27759909 2017
dbSNP: rs1555039242
rs1555039242
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature. 28359930 2017
dbSNP: rs1555039242
rs1555039242
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations. 27777327 2017
dbSNP: rs1555039242
rs1555039242
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593 2016
dbSNP: rs1555039242
rs1555039242
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations. 25810209 2016
dbSNP: rs1555039242
rs1555039242
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0026827
Disease:
Muscle hypotonia 		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
dbSNP: rs1555039242
rs1555039242
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR A de novo Mutation in KMT2A (MLL) in monozygotic twins with Wiedemann-Steiner syndrome. 25929198 2015
dbSNP: rs1555039242
rs1555039242
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. 25574841 2015
dbSNP: rs1555039242
rs1555039242
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0026827
Disease:
Muscle hypotonia 		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
dbSNP: rs1555039242
rs1555039242
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome. 25186178 2014
dbSNP: rs1555039242
rs1555039242
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0026827
Disease:
Muscle hypotonia 		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
dbSNP: rs1555039242
rs1555039242
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR De novo mutations in MLL cause Wiedemann-Steiner syndrome. 22795537 2012
dbSNP: rs1555039242
rs1555039242
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome. 22197486 2012
dbSNP: rs1555039242
rs1555039242
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0026827
Disease:
Muscle hypotonia 		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
dbSNP: rs1555039242
rs1555039242
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Multiple interactions recruit MLL1 and MLL1 fusion proteins to the HOXA9 locus in leukemogenesis. 20541448 2010
dbSNP: rs1555039242
rs1555039242
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. 20711175 2010
dbSNP: rs1555039242
rs1555039242
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR MLL targets SET domain methyltransferase activity to Hox gene promoters. 12453418 2002
dbSNP: rs1555039242
rs1555039242
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0026827
Disease:
Muscle hypotonia 		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
dbSNP: rs1555039242
rs1555039242
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0026827
Disease:
Muscle hypotonia 		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
dbSNP: rs1555039242
rs1555039242
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR "Hypertrichosis ""cubiti"" with facial asymmetry." 7802037 1994
dbSNP: rs1555039242
rs1555039242
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Rearrangement of the MLL gene in acute lymphoblastic and acute myeloid leukemias with 11q23 chromosomal translocations. 8361504 1993
dbSNP: rs1555039242
rs1555039242
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Hypertrichosis cubiti (hairy elbows) and short stature: a recognisable association. 2738900 1989