DisGeNET - a database of gene-disease associations

Gene: SLC29A3 ×

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	55315
Gene Symbol:	SLC29A3

SLC29A3

CUI:	C3860213
Disease:	Autoinflammatory disorder

Autoinflammatory disorder

0.310

Biomarker

GENOMICS_ENGLAND

Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis.

2012