DisGeNET - a database of gene-disease associations

rs121434592, AKT1

N. diseases: 54

Disease: Sinonasal undifferentiated carcinoma ×

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

Sinonasal undifferentiated carcinoma

CUI:	C1710096
Disease:	Sinonasal undifferentiated carcinoma

0.010

GeneticVariation

BEFREE

AKT1 E17K and KIT D816V hotspot variants were each detected in one IDH2-mutated SNUC.

2017