DisGeNET - a database of gene-disease associations

Source: GENOMICS_ENGLAND

Disease: DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3 ×

Gene: ABCB6 ×

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:	10058
Gene Symbol:	ABCB6

ABCB6

CUI:	C3809394
Disease:	DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3

DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3

0.700

Biomarker

GENOMICS_ENGLAND

Mitochondrial medicine in the omics era.

29903433

2018

Entrez Id:	10058
Gene Symbol:	ABCB6

ABCB6

CUI:	C3809394
Disease:	DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3

DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3

0.700

Biomarker

GENOMICS_ENGLAND

Mutations in ABCB6 cause dyschromatosis universalis hereditaria.

23519333

2013

Entrez Id:	10058
Gene Symbol:	ABCB6

ABCB6

CUI:	C3809394
Disease:	DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3

DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3

0.700

Biomarker

GENOMICS_ENGLAND

ABCB6 mutations cause ocular coloboma.

22226084

2012