DisGeNET - a database of gene-disease associations

NSD1, nuclear receptor binding SET domain protein 1, 64324

N. diseases: 247; N. variants: 271

Disease: Beckwith-Wiedemann Syndrome ×

Variant: rs1562213291 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1562213291

rs1562213291

Entrez Id:	64324
Gene Symbol:	NSD1

NSD1

CUI:	C0004903
Disease:

Beckwith-Wiedemann Syndrome

GT

0.700

CausalMutation

CLINVAR