DisGeNET - a database of gene-disease associations

rs768638173, NF1

N. diseases: 6

Disease: Precocious Puberty ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Precocious Puberty

CUI:	C0034013
Disease:	Precocious Puberty

0.010

GeneticVariation

BEFREE

Of the ten reported cases of NF1 due to R681X, one has presented with optic glioma and none with precocious puberty.

2015