DisGeNET - a database of gene-disease associations

PTEN Hamartoma Tumor Syndrome, C1959582

Variant: rs398123321 ×

Source: CURATED ×

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:

rs398123321

PTEN

0.700

GeneticVariation

CLINVAR

Multiplex assessment of protein variant abundance by massively parallel sequencing.

29785012

2018

dbSNP:

rs398123321

PTEN

0.700

GeneticVariation

CLINVAR

A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships.

29706350

2018

dbSNP:

rs398123321

PTEN

0.700

GeneticVariation

CLINVAR

Analysis of protein-coding genetic variation in 60,706 humans.

27535533

2016