DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Infantile hypophosphatasia ×

Variant: rs121918000 ×

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:

rs121918000

ALPL

CUI:	C0268412
Disease:	Infantile hypophosphatasia

Infantile hypophosphatasia

0.700

GeneticVariation

CLINVAR

Functional evaluation of mutations in the tissue-nonspecific alkaline phosphatase gene.

23509830

2012

dbSNP:

rs121918000

ALPL

CUI:	C0268412
Disease:	Infantile hypophosphatasia

Infantile hypophosphatasia

0.700

GeneticVariation

CLINVAR

Kinetic characterization of hypophosphatasia mutations with physiological substrates.

12162492

2002

dbSNP:

rs121918000

ALPL

CUI:	C0268412
Disease:	Infantile hypophosphatasia

Infantile hypophosphatasia

0.700

GeneticVariation

CLINVAR

Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia.

11438998

2001

dbSNP:

rs121918000

ALPL

CUI:	C0268412
Disease:	Infantile hypophosphatasia

Infantile hypophosphatasia

0.700

GeneticVariation

CLINVAR

Defective intracellular transport of tissue-nonspecific alkaline phosphatase with an Ala162-->Thr mutation associated with lethal hypophosphatasia.

9562633

1998

dbSNP:

rs121918000

ALPL

CUI:	C0268412
Disease:	Infantile hypophosphatasia

Infantile hypophosphatasia

0.700

GeneticVariation

CLINVAR

A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia.

3174660

1988

dbSNP:

rs121918000

ALPL

CUI:	C0268412
Disease:	Infantile hypophosphatasia

Infantile hypophosphatasia

0.700

CausalMutation

CLINVAR