DisGeNET - a database of gene-disease associations

Source: ORPHANET

Disease: Infantile hypophosphatasia ×

Gene: ALPL ×

Results per page

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:	249
Gene Symbol:	ALPL

ALPL

CUI:	C0268412
Disease:	Infantile hypophosphatasia

Infantile hypophosphatasia

1.000

GermlineCausalMutation

ORPHANET

Hypophosphatasia.

17916236

2007

Entrez Id:	249
Gene Symbol:	ALPL

ALPL

CUI:	C0268412
Disease:	Infantile hypophosphatasia

Infantile hypophosphatasia

1.000

GermlineCausalMutation

ORPHANET

Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene.

10737975

2000