DisGeNET - a database of gene-disease associations

PTPN11, protein tyrosine phosphatase non-receptor type 11, 5781

N. diseases: 702; N. variants: 98

Disease: Leopard Syndrome 1 ×

Variant: rs397507546 ×

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:

rs397507546

rs397507546

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551484
Disease:

Leopard Syndrome 1

A

0.700

CausalMutation

CLINVAR