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: rs1555038029
rs1555038029
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C4317146
Disease:
Acid reflux 		A 0.700 CausalMutation CLINVAR
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: rs1555038111
rs1555038111
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0545053
Disease:
Advanced bone age 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1555038111
rs1555038111
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0002418
Disease:
Amblyopia 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1555038111
rs1555038111
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0152415
Disease:
Ankyloglossia 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1555038111
rs1555038111
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C3807980
Disease:
Apneic episodes in infancy 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1555038111
rs1555038111
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C1843496
Disease:
Bilateral microphthalmos 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1555038111
rs1555038111
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C1865916
Disease:
Bilateral ptosis 		G 0.700 CausalMutation CLINVAR
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: rs1555043939
rs1555043939
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C1856121
Disease:
Broad eyebrow 		AG 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: rs1555038111
rs1555038111
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0240635
Disease:
Byzanthine arch palate 		G 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: 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: rs1555038111
rs1555038111
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0401149
Disease:
Chronic constipation 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1555038111
rs1555038111
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C1850049
Disease:
Clinodactyly of the 5th finger 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1555038111
rs1555038111
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0152423
Disease:
Congenital small ears 		G 0.700 CausalMutation CLINVAR
dbSNP: rs727503777
rs727503777
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C4551851
Disease:
Cornelia de Lange Syndrome 1 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1555038111
rs1555038111
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0454644
Disease:
Delayed speech and language development 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1555038111
rs1555038111
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0423110
Disease:
Downward slant of palpebral fissure 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1555038029
rs1555038029
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C1260959
Disease:
Drusen 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1555038111
rs1555038111
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0424503
Disease:
Dysmorphic facies 		G 0.700 CausalMutation CLINVAR
dbSNP: rs150800017
rs150800017
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations. 25810209 2016