DisGeNET - a database of gene-disease associations

rs121918457, PTPN11

N. diseases: 24

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

LEOPARD syndrome (PTPN11, T468M) in three boys fulfilling neurofibromatosis type 1 clinical criteria.

2011