DisGeNET - a database of gene-disease associations

NSD1, nuclear receptor binding SET domain protein 1, 64324

N. diseases: 247; N. variants: 271

Disease: Hyperinsulinemic hypoglycemia ×

Variant: rs1554199368 ×

Source: ALL

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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:

rs1554199368

rs1554199368

Entrez Id:	64324
Gene Symbol:	NSD1

NSD1

CUI:	C1864903
Disease:

Hyperinsulinemic hypoglycemia

T

0.700

CausalMutation

CLINVAR