DisGeNET - a database of gene-disease associations

Source: GENOMICS_ENGLAND

Disease: Pseudoxanthoma Elasticum, Incomplete ×

Gene: ABCC6 ×

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:	368
Gene Symbol:	ABCC6

ABCC6

CUI:	C1867450
Disease:	Pseudoxanthoma Elasticum, Incomplete

Pseudoxanthoma Elasticum, Incomplete

0.600

Biomarker

GENOMICS_ENGLAND

Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes.

18800149

2009

Entrez Id:	368
Gene Symbol:	ABCC6

ABCC6

CUI:	C1867450
Disease:	Pseudoxanthoma Elasticum, Incomplete

Pseudoxanthoma Elasticum, Incomplete

0.600

Biomarker

GENOMICS_ENGLAND

Mutations in ABCC6 cause pseudoxanthoma elasticum.

10835643

2000

Entrez Id:	368
Gene Symbol:	ABCC6

ABCC6

CUI:	C1867450
Disease:	Pseudoxanthoma Elasticum, Incomplete

Pseudoxanthoma Elasticum, Incomplete

0.600

Biomarker

GENOMICS_ENGLAND

Pseudoxanthoma elasticum: a review of neurological complications.

697322

1978

Entrez Id:	368
Gene Symbol:	ABCC6

ABCC6

CUI:	C1867450
Disease:	Pseudoxanthoma Elasticum, Incomplete

Pseudoxanthoma Elasticum, Incomplete

0.600

Biomarker

GENOMICS_ENGLAND