DisGeNET - a database of gene-disease associations

Kidney Calculi, C0022650

Gene: ALPL ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1256328

ALPL

0.720

GeneticVariation

BEFREE

In summary, this study successfully validated the genetic roles of rs1256328 and rs12654812 in human nephrolithiasis.

31754202

2019

dbSNP:

rs1256328

ALPL

0.720

GeneticVariation

BEFREE

The ALPL SNP, rs1256328, was identified as being significantly associated with kidney stone disease status in a large Chinese Han cohort.

29489416

2018

dbSNP:

rs1256328

ALPL

0.720

GeneticVariation

GWASCAT

Common and rare variants associated with kidney stones and biochemical traits.

26272126

2015

dbSNP:

rs1168879812

ALPL

0.010

GeneticVariation

BEFREE

Focusing our analysis on coding sequence variants in 63 genes with preferential kidney expression we identify two rare missense variants SLC34A1 p.Tyr489Cys (OR=2.38, P=2.8 × 10(-5)) and TRPV5 p.Leu530Arg (OR=3.62, P=4.1 × 10(-5)) associating with recurrent kidney stones.

26272126

2015