DisGeNET - a database of gene-disease associations

Pituitary-dependent Cushing's disease, C0221406

Variant: rs672601307 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs672601307

rs672601307

USP8

0.800

GeneticVariation

UNIPROT

Somatic USP8 Gene Mutations Are a Common Cause of Pediatric Cushing Disease.

2017

dbSNP:

rs672601307

rs672601307

USP8

C

0.800

CausalMutation

CLINVAR