DisGeNET - a database of gene-disease associations

ALPL, alkaline phosphatase, biomineralization associated, 249

N. diseases: 190; N. variants: 134

Disease: Hypophosphatasia, Perinatal Lethal ×

Variant: rs749544042 ×

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:

rs749544042

rs749544042

Entrez Id:	249
Gene Symbol:	ALPL

ALPL

CUI:	C2673477
Disease:

Hypophosphatasia, Perinatal Lethal

A

0.700

CausalMutation

CLINVAR