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: 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: rs74422681
rs74422681
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs525549
rs525549
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0023452
Disease:
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
dbSNP: rs525549
rs525549
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0023449
Disease:
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
dbSNP: rs525549
rs525549
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0751606
Disease:
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
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: 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: 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: rs1555038029
rs1555038029
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C1858120
Disease:
Generalized hypotonia 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1555038029
rs1555038029
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C1260959
Disease:
Drusen 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1555038029
rs1555038029
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C4317146
Disease:
Acid reflux 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1555038029
rs1555038029
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0344482
Disease:
Hypoplasia of corpus callosum 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1555038029
rs1555038029
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0520679
Disease:
Sleep Apnea, Obstructive 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1555038029
rs1555038029
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0240635
Disease:
Byzanthine arch palate 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1555038029
rs1555038029
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0575897
Disease:
Thumb deformity 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1555038029
rs1555038029
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0018818
Disease:
Ventricular Septal Defects 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1555038029
rs1555038029
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0410652
Disease:
Cervical spine instability 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1555038029
rs1555038029
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0264303
Disease:
Laryngomalacia 		A 0.700 CausalMutation CLINVAR