DisGeNET - a database of gene-disease associations

ENPP1, ectonucleotide pyrophosphatase/phosphodiesterase 1, 5167

N. diseases: 247; N. variants: 52

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:

rs374270497

Entrez Id:	5167
Gene Symbol:	ENPP1

ENPP1

CUI:	C1859727
Disease:

Arterial calcification of infancy

0.700

CausalMutation

CLINVAR

Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy.

20016754

2008

dbSNP:

rs1243920034

Entrez Id:	5167
Gene Symbol:	ENPP1

ENPP1

CUI:	C1859727
Disease:

Arterial calcification of infancy

0.010

GeneticVariation

BEFREE

Sequencing of ENPP1 disclosed a homozygous missense mutation, p.Y513C, associated with generalized arterial calcification of infancy.

22229486

2012

dbSNP:

rs121918024

Entrez Id:	5167
Gene Symbol:	ENPP1

ENPP1

CUI:	C4551985
Disease:

ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1

0.800

CausalMutation

CLINVAR

dbSNP:

rs121918024

Entrez Id:	5167
Gene Symbol:	ENPP1

ENPP1

CUI:	C4551985
Disease:

ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1

0.800

GeneticVariation

UNIPROT

Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.

22209248

2012

dbSNP:

rs121918024

Entrez Id:	5167
Gene Symbol:	ENPP1

ENPP1

CUI:	C4551985
Disease:

ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1

0.800

GeneticVariation

UNIPROT

Effects of Different Variants in the ENPP1 Gene on the Functional Properties of Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 1.

27467858

2016

dbSNP:

rs121918024

Entrez Id:	5167
Gene Symbol:	ENPP1

ENPP1

CUI:	C4551985
Disease:

ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1

0.800

GeneticVariation

UNIPROT

Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification.

12881724

2003

dbSNP:

rs121918024

Entrez Id:	5167
Gene Symbol:	ENPP1

ENPP1

CUI:	C4551985
Disease:

ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1

0.800

GeneticVariation

UNIPROT

The mutational spectrum of ENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI).

15605415

2005

dbSNP:

rs121918024

Entrez Id:	5167
Gene Symbol:	ENPP1

ENPP1

CUI:	C4551985
Disease:

ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1

0.800

GeneticVariation

UNIPROT

Generalized arterial calcification of infancy: different clinical courses in two affected siblings.

15940697

2005

dbSNP:

rs121918024

Entrez Id:	5167
Gene Symbol:	ENPP1

ENPP1

CUI:	C4551985
Disease:

ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1

0.800

GeneticVariation

UNIPROT

Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy.

20016754

2008

dbSNP:

rs121918024

Entrez Id:	5167
Gene Symbol:	ENPP1

ENPP1

CUI:	C4551985
Disease:

ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1

0.800

GeneticVariation

UNIPROT

Generalized Arterial Calcification of Infancy: Fatal Clinical Course Associated with a Novel Mutation in ENPP1.

23430823

2011

dbSNP:

rs121918025

Entrez Id:	5167
Gene Symbol:	ENPP1

ENPP1

CUI:	C4551985
Disease:

ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1

0.800

GeneticVariation

UNIPROT

Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.

22209248

2012

dbSNP:

rs121918025

Entrez Id:	5167
Gene Symbol:	ENPP1

ENPP1

CUI:	C4551985
Disease:

ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1

0.800

GeneticVariation

UNIPROT

Effects of Different Variants in the ENPP1 Gene on the Functional Properties of Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 1.

27467858

2016

dbSNP:

rs121918025

Entrez Id:	5167
Gene Symbol:	ENPP1

ENPP1

CUI:	C4551985
Disease:

ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1

0.800

GeneticVariation

UNIPROT

The mutational spectrum of ENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI).

15605415

2005

dbSNP:

rs121918025

Entrez Id:	5167
Gene Symbol:	ENPP1

ENPP1

CUI:	C4551985
Disease:

ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1

0.800

GeneticVariation

UNIPROT

Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification.

12881724

2003

dbSNP:

rs121918025

Entrez Id:	5167
Gene Symbol:	ENPP1

ENPP1

CUI:	C4551985
Disease:

ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1

0.800

GeneticVariation

UNIPROT

Generalized Arterial Calcification of Infancy: Fatal Clinical Course Associated with a Novel Mutation in ENPP1.

23430823

2011

dbSNP:

rs121918025

Entrez Id:	5167
Gene Symbol:	ENPP1

ENPP1

CUI:	C4551985
Disease:

ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1

0.800

GeneticVariation

UNIPROT

Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy.

20016754

2008

dbSNP:

rs121918025

Entrez Id:	5167
Gene Symbol:	ENPP1

ENPP1

CUI:	C4551985
Disease:

ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1

0.800

GeneticVariation

UNIPROT

Generalized arterial calcification of infancy: different clinical courses in two affected siblings.

15940697

2005

dbSNP:

rs121918025

Entrez Id:	5167
Gene Symbol:	ENPP1

ENPP1

CUI:	C4551985
Disease:

ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1

0.800

CausalMutation

CLINVAR

dbSNP:

rs121918026

Entrez Id:	5167
Gene Symbol:	ENPP1

ENPP1

CUI:	C4551985
Disease:

ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1

0.800

GeneticVariation

UNIPROT

Effects of Different Variants in the ENPP1 Gene on the Functional Properties of Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 1.

27467858

2016

dbSNP:

rs121918026

Entrez Id:	5167
Gene Symbol:	ENPP1

ENPP1

CUI:	C4551985
Disease:

ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1

0.800

GeneticVariation

UNIPROT

The mutational spectrum of ENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI).

15605415

2005

dbSNP:

rs121918026

Entrez Id:	5167
Gene Symbol:	ENPP1

ENPP1

CUI:	C4551985
Disease:

ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1

0.800

GeneticVariation

UNIPROT

Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.

22209248

2012

dbSNP:

rs121918026

Entrez Id:	5167
Gene Symbol:	ENPP1

ENPP1

CUI:	C4551985
Disease:

ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1

0.800

GeneticVariation

UNIPROT

Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy.

20016754

2008

dbSNP:

rs121918026

Entrez Id:	5167
Gene Symbol:	ENPP1

ENPP1

CUI:	C4551985
Disease:

ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1

0.800

GeneticVariation

UNIPROT

Generalized arterial calcification of infancy: different clinical courses in two affected siblings.

15940697

2005

dbSNP:

rs121918026

Entrez Id:	5167
Gene Symbol:	ENPP1

ENPP1

CUI:	C4551985
Disease:

ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1

0.800

GeneticVariation

UNIPROT

Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification.

12881724

2003

dbSNP:

rs121918026

Entrez Id:	5167
Gene Symbol:	ENPP1

ENPP1

CUI:	C4551985
Disease:

ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1

0.800

GeneticVariation

UNIPROT

Generalized Arterial Calcification of Infancy: Fatal Clinical Course Associated with a Novel Mutation in ENPP1.

23430823

2011