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: 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: rs150800017
rs150800017
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome. 27759909 2017
dbSNP: rs150800017
rs150800017
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature. 28359930 2017
dbSNP: rs150800017
rs150800017
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations. 27777327 2017
dbSNP: rs1555036394
rs1555036394
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome. 27759909 2017
dbSNP: rs1555036394
rs1555036394
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome. 27759909 2017
dbSNP: rs1555036394
rs1555036394
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature. 28359930 2017
dbSNP: rs1555036394
rs1555036394
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations. 27777327 2017
dbSNP: rs1555036394
rs1555036394
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations. 27777327 2017
dbSNP: rs1555036394
rs1555036394
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature. 28359930 2017
dbSNP: rs1555036436
rs1555036436
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome. 27759909 2017
dbSNP: rs1555036436
rs1555036436
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations. 27777327 2017
dbSNP: rs1555036436
rs1555036436
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature. 28359930 2017
dbSNP: rs1555036436
rs1555036436
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations. 27777327 2017
dbSNP: rs1555036436
rs1555036436
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature. 28359930 2017
dbSNP: rs1555036436
rs1555036436
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0026827
Disease:
Muscle hypotonia 		T 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 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: C0432072
Disease:
Dysmorphic features 		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: C0432072
Disease:
Dysmorphic features 		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: 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: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome. 27759909 2017