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: 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: 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: rs1057519408
rs1057519408
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C1854630
Disease:
Growth Deficiency and Mental Retardation with Facial Dysmorphism 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1057519408
rs1057519408
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C1843367
Disease:
Poor school performance 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1131691433
rs1131691433
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C1854630
Disease:
Growth Deficiency and Mental Retardation with Facial Dysmorphism 		G 0.700 GeneticVariation 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: rs1131692268
rs1131692268
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C1854630
Disease:
Growth Deficiency and Mental Retardation with Facial Dysmorphism 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1131692268
rs1131692268
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0557874
Disease:
Global developmental delay 		C 0.700 CausalMutation 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: rs1555035550
rs1555035550
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C1854630
Disease:
Growth Deficiency and Mental Retardation with Facial Dysmorphism 		AT 0.700 CausalMutation CLINVAR
dbSNP: rs1555035779
rs1555035779
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C1854630
Disease:
Growth Deficiency and Mental Retardation with Facial Dysmorphism 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1555036801
rs1555036801
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C1854630
Disease:
Growth Deficiency and Mental Retardation with Facial Dysmorphism 		T 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