DisGeNET - a database of gene-disease associations

rs267606990, RPL6;PTPN11

N. diseases: 4

Disease: Neurofibromatosis 1 ×

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

Neurofibromatosis 1

CUI:	C0027831
Disease:	Neurofibromatosis 1

0.010

GeneticVariation

BEFREE

The patient was found to carry a de novo PTPN11 mutation p.T2I as well as the maternally inherited NF1 mutation c.4661+1G>C.

2009