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: C1837658
Disease:
Gross motor development delay 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1555038029
rs1555038029
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C1854630
Disease:
Growth Deficiency and Mental Retardation with Facial Dysmorphism 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1555038111
rs1555038111
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0020555
Disease:
Hypertrichosis 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1555038111
rs1555038111
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C4025295
Disease:
Elbow hypertrichosis 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1555038111
rs1555038111
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C1854630
Disease:
Growth Deficiency and Mental Retardation with Facial Dysmorphism 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1555038111
rs1555038111
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C4280757
Disease:
Fast-growing nails 		G 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: rs1555038111
rs1555038111
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0239234
Disease:
Low set ears 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1555038111
rs1555038111
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C4281993
Disease:
Neonatal respiratory distress 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1555038111
rs1555038111
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0015732
Disease:
Fecal Incontinence 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1555038111
rs1555038111
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0427086
Disease:
Involuntary Movements 		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: rs1555038111
rs1555038111
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C1827524
Disease:
Wide spaced nipples 		G 0.700 CausalMutation CLINVAR
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: C0150080
Disease:
Social Communication Disorder 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1555038111
rs1555038111
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C2315100
Disease:
Pediatric failure to thrive 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1555038111
rs1555038111
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0020534
Disease:
Orbital separation excessive 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1555038111
rs1555038111
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C1859236
Disease:
Prolonged neonatal jaundice 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1555038111
rs1555038111
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C3665983
Disease:
Oral aversion 		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: C1854928
Disease:
Protuberant abdomen 		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: C2673410
Disease:
Small midface 		G 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: rs1555038111
rs1555038111
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0265535
Disease:
Trigonocephaly 		G 0.700 CausalMutation CLINVAR