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: rs1555039343
rs1555039343
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: rs1555039343
rs1555039343
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: rs1555039343
rs1555039343
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: rs1555039606
rs1555039606
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature. 28359930 2017
dbSNP: rs1555039606
rs1555039606
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome. 27759909 2017
dbSNP: rs1555039606
rs1555039606
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature. 28359930 2017
dbSNP: rs1555039606
rs1555039606
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations. 27777327 2017
dbSNP: rs1555039606
rs1555039606
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations. 27777327 2017
dbSNP: rs1555039606
rs1555039606
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome. 27759909 2017
dbSNP: rs1555040480
rs1555040480
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0432072
Disease:
Dysmorphic features 		TAG 0.700 CausalMutation CLINVAR Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations. 27777327 2017
dbSNP: rs1555040480
rs1555040480
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0432072
Disease:
Dysmorphic features 		TAG 0.700 CausalMutation CLINVAR Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature. 28359930 2017
dbSNP: rs1555040480
rs1555040480
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0432072
Disease:
Dysmorphic features 		TAG 0.700 CausalMutation CLINVAR Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome. 27759909 2017
dbSNP: rs1555044700
rs1555044700
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0796004
Disease:
Kabuki make-up syndrome 		A 0.700 CausalMutation CLINVAR Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities. 29255178 2017
dbSNP: rs1555046404
rs1555046404
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: rs1555046404
rs1555046404
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: rs1555046404
rs1555046404
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: rs1555046428
rs1555046428
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0432072
Disease:
Dysmorphic features 		CCAGAT 0.700 CausalMutation CLINVAR Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations. 27777327 2017
dbSNP: rs1555046428
rs1555046428
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0432072
Disease:
Dysmorphic features 		CCAGAT 0.700 CausalMutation CLINVAR Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome. 27759909 2017
dbSNP: rs1555046428
rs1555046428
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0026827
Disease:
Muscle hypotonia 		CCAGAT 0.700 CausalMutation CLINVAR Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations. 27777327 2017
dbSNP: rs1555046428
rs1555046428
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0026827
Disease:
Muscle hypotonia 		CCAGAT 0.700 CausalMutation CLINVAR Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome. 27759909 2017
dbSNP: rs1555046428
rs1555046428
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0026827
Disease:
Muscle hypotonia 		CCAGAT 0.700 CausalMutation CLINVAR Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature. 28359930 2017
dbSNP: rs1555046428
rs1555046428
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0432072
Disease:
Dysmorphic features 		CCAGAT 0.700 CausalMutation CLINVAR Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature. 28359930 2017
dbSNP: rs1555046615
rs1555046615
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations. 27777327 2017
dbSNP: rs1555046615
rs1555046615
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome. 27759909 2017
dbSNP: rs1555046615
rs1555046615
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0026650
Disease:
Movement Disorders 		G 0.700 CausalMutation CLINVAR Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome. 27759909 2017