DisGeNET - a database of gene-disease associations

SLC22A12, solute carrier family 22 member 12, 116085

N. diseases: 43; N. variants: 35

Disease: Renal hypouricemia ×

Variant: rs121907894 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121907894

rs121907894

Entrez Id:	116085
Gene Symbol:	SLC22A12

SLC22A12

CUI:	C0473219
Disease:

Renal hypouricemia

T

0.800

CausalMutation

CLINVAR

dbSNP:

rs121907894

rs121907894

Entrez Id:	116085
Gene Symbol:	SLC22A12

SLC22A12

CUI:	C0473219
Disease:

Renal hypouricemia

0.800

GeneticVariation

UNIPROT