DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Infantile hypophosphatasia ×

Variant: rs199590449 ×

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:

rs199590449

ALPL

CUI:	C0268412
Disease:	Infantile hypophosphatasia

Infantile hypophosphatasia

0.700

GeneticVariation

CLINVAR

Rare coding variants in ALPL are associated with low serum alkaline phosphatase and low bone mineral density.

21956185

2012

dbSNP:

rs199590449

ALPL

CUI:	C0268412
Disease:	Infantile hypophosphatasia

Infantile hypophosphatasia

0.700

GeneticVariation

CLINVAR

[Hypophosphatasia: report of two affected girls with spontaneous improvement of skeletal defects].

16583935

2006

dbSNP:

rs199590449

ALPL

CUI:	C0268412
Disease:	Infantile hypophosphatasia

Infantile hypophosphatasia

0.700

GeneticVariation

CLINVAR

Characterization of missense mutations and large deletions in the ALPL gene by sequencing and quantitative multiplex PCR of short fragments.

17253930

2006

dbSNP:

rs199590449

ALPL

CUI:	C0268412
Disease:	Infantile hypophosphatasia

Infantile hypophosphatasia

0.700

GeneticVariation

CLINVAR

A molecular approach to dominance in hypophosphatasia.

11479741

2001