DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: DYSTONIA 28, CHILDHOOD-ONSET ×

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	9757
Gene Symbol:	KMT2B

KMT2B

CUI:	C4310633
Disease:	DYSTONIA 28, CHILDHOOD-ONSET

DYSTONIA 28, CHILDHOOD-ONSET

0.610

GeneticVariation

CLINVAR

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

27992417

2017

Entrez Id:	9757
Gene Symbol:	KMT2B

KMT2B

CUI:	C4310633
Disease:	DYSTONIA 28, CHILDHOOD-ONSET

DYSTONIA 28, CHILDHOOD-ONSET

0.610

CausalMutation

CLINVAR

KMT2B rare missense variants in generalized dystonia.

28520167

2017

Entrez Id:	9757
Gene Symbol:	KMT2B

KMT2B

CUI:	C4310633
Disease:	DYSTONIA 28, CHILDHOOD-ONSET

DYSTONIA 28, CHILDHOOD-ONSET

0.610

GeneticVariation

CLINVAR

Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia.

27839873

2016