DisGeNET - a database of gene-disease associations

NSD2, nuclear receptor binding SET domain protein 2, 7468

N. diseases: 224; N. variants: 4

Disease: Failure to Thrive ×

Source: ALL

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

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C0015544
Disease:	Failure to Thrive

Failure to Thrive

0.110

GeneticVariation

disease

BEFREE

Developmental delay and failure to thrive associated with a loss-of-function variant in WHSC1 (NSD2).

2018

CUI:	C0015544
Disease:	Failure to Thrive

Failure to Thrive

0.110

Biomarker

disease

HPO