DisGeNET - a database of gene-disease associations

Infantile hypophosphatasia, C0268412

Variant: rs1339693179 ×

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:

rs1339693179

rs1339693179

ALPP

0.010

GeneticVariation

BEFREE

Especially, A115V located in exon 5 has been detected in a Japanese patient with severe periodontitis and adult-type HOPS.

2005