DisGeNET - a database of gene-disease associations

Gene: SLC4A4 ×

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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:	8671
Gene Symbol:	SLC4A4

SLC4A4

CUI:	C0001126
Disease:	Renal tubular acidosis

Renal tubular acidosis

0.540

Biomarker

MGD

Severe metabolic acidosis causes early lethality in NBC1 W516X knock-in mice as a model of human isolated proximal renal tubular acidosis.

2011