DisGeNET - a database of gene-disease associations

ENPP1, ectonucleotide pyrophosphatase/phosphodiesterase 1, 5167

N. diseases: 247; N. variants: 52

Disease: Cole disease ×

Variant: rs397518476 ×

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:

rs397518476

Entrez Id:	5167
Gene Symbol:	ENPP1

ENPP1

CUI:	C3809781
Disease:

Cole disease

0.800

GeneticVariation

UNIPROT

ENPP1 Mutation Causes Recessive Cole Disease by Altering Melanogenesis.

28964717

2018

dbSNP:

rs397518476

Entrez Id:	5167
Gene Symbol:	ENPP1

ENPP1

CUI:	C3809781
Disease:

Cole disease

0.800

GeneticVariation

UNIPROT

Association of Cole disease with novel heterozygous mutations in the somatomedin-B domains of the ENPP1 gene: necessary, but not always sufficient.

26617416

2016

dbSNP:

rs397518476

Entrez Id:	5167
Gene Symbol:	ENPP1

ENPP1

CUI:	C3809781
Disease:

Cole disease

0.800

GeneticVariation

UNIPROT

Cole Disease Results from Mutations in ENPP1.

24075184

2013

dbSNP:

rs397518476

Entrez Id:	5167
Gene Symbol:	ENPP1

ENPP1

CUI:	C3809781
Disease:

Cole disease

0.800

CausalMutation

CLINVAR