DisGeNET - a database of gene-disease associations

Results per page

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:	1789
Gene Symbol:	DNMT3B

DNMT3B

CUI:	C1834671
Disease:	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B

FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B

0.300

GeneticVariation

UNIPROT

Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy.

2016