DisGeNET - a database of gene-disease associations

Diabetes Mellitus, Non-Insulin-Dependent, C0011860

Variant: rs121434593 ×

Source: ALL

Results per page

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121434593

AKT2

0.800

GeneticVariation

UNIPROT

Recommendations from the EGAPP Working Group: does genomic profiling to assess type 2 diabetes risk improve health outcomes?

23492873

2013

dbSNP:

rs121434593

AKT2

0.800

GeneticVariation

UNIPROT

Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline.

22962670

2012

dbSNP:

rs121434593

AKT2

0.800

GeneticVariation

UNIPROT

Postreceptor insulin resistance contributes to human dyslipidemia and hepatic steatosis.

19164855

2009

dbSNP:

rs121434593

AKT2

0.800

GeneticVariation

UNIPROT

A family with severe insulin resistance and diabetes due to a mutation in AKT2.

15166380

2004

dbSNP:

rs121434593

AKT2

0.800

CausalMutation

CLINVAR