DisGeNET - a database of gene-disease associations

ABCB6, ATP binding cassette subfamily B member 6 (Langereis blood group), 10058

N. diseases: 400; N. variants: 19

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:

rs148211042

Entrez Id:	10058
Gene Symbol:	ABCB6

ABCB6

CUI:	C1836705
Disease:

Pseudohyperkalemia, Familial, 2, due to Red Cell Leak

0.800

GeneticVariation

UNIPROT

Familial pseudohyperkalemia in blood donors: a novel mutation with implications for transfusion practice.

24947683

2014

dbSNP:

rs397514756

Entrez Id:	10058
Gene Symbol:	ABCB6

ABCB6

CUI:	C3809394
Disease:

DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3

0.800

GeneticVariation

UNIPROT

Novel missense mutations of ABCB6 in two chinese families with dyschromatosis universalis hereditaria.

25288164

2014

dbSNP:

rs397514756

Entrez Id:	10058
Gene Symbol:	ABCB6

ABCB6

CUI:	C3809394
Disease:

DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3

0.800

GeneticVariation

UNIPROT

Genome-wide linkage, exome sequencing and functional analyses identify ABCB6 as the pathogenic gene of dyschromatosis universalis hereditaria.

24498303

2014

dbSNP:

rs397514757

Entrez Id:	10058
Gene Symbol:	ABCB6

ABCB6

CUI:	C3809394
Disease:

DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3

0.800

GeneticVariation

UNIPROT

Genome-wide linkage, exome sequencing and functional analyses identify ABCB6 as the pathogenic gene of dyschromatosis universalis hereditaria.

24498303

2014

dbSNP:

rs397514757

Entrez Id:	10058
Gene Symbol:	ABCB6

ABCB6

CUI:	C3809394
Disease:

DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3

0.800

GeneticVariation

UNIPROT

Novel missense mutations of ABCB6 in two chinese families with dyschromatosis universalis hereditaria.

25288164

2014

dbSNP:

rs397514758

Entrez Id:	10058
Gene Symbol:	ABCB6

ABCB6

CUI:	C3809394
Disease:

DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3

0.800

GeneticVariation

UNIPROT

Novel missense mutations of ABCB6 in two chinese families with dyschromatosis universalis hereditaria.

25288164

2014

dbSNP:

rs397514758

Entrez Id:	10058
Gene Symbol:	ABCB6

ABCB6

CUI:	C3809394
Disease:

DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3

0.800

GeneticVariation

UNIPROT

Genome-wide linkage, exome sequencing and functional analyses identify ABCB6 as the pathogenic gene of dyschromatosis universalis hereditaria.

24498303

2014

dbSNP:

rs754667801

Entrez Id:	10058
Gene Symbol:	ABCB6

ABCB6

CUI:	C1836705
Disease:

Pseudohyperkalemia, Familial, 2, due to Red Cell Leak

0.800

GeneticVariation

UNIPROT

Familial pseudohyperkalemia in blood donors: a novel mutation with implications for transfusion practice.

24947683

2014

dbSNP:

rs764893806

Entrez Id:	10058
Gene Symbol:	ABCB6

ABCB6

CUI:	C1836705
Disease:

Pseudohyperkalemia, Familial, 2, due to Red Cell Leak

0.800

GeneticVariation

UNIPROT

Familial pseudohyperkalemia in blood donors: a novel mutation with implications for transfusion practice.

24947683

2014

dbSNP:

rs796065353

Entrez Id:	10058
Gene Symbol:	ABCB6

ABCB6

CUI:	C3809394
Disease:

DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3

0.800

GeneticVariation

UNIPROT

Genome-wide linkage, exome sequencing and functional analyses identify ABCB6 as the pathogenic gene of dyschromatosis universalis hereditaria.

24498303

2014

dbSNP:

rs796065353

Entrez Id:	10058
Gene Symbol:	ABCB6

ABCB6

CUI:	C3809394
Disease:

DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3

0.800

GeneticVariation

UNIPROT

Novel missense mutations of ABCB6 in two chinese families with dyschromatosis universalis hereditaria.

25288164

2014

dbSNP:

rs148211042

Entrez Id:	10058
Gene Symbol:	ABCB6

ABCB6

CUI:	C1836705
Disease:

Pseudohyperkalemia, Familial, 2, due to Red Cell Leak

0.800

GeneticVariation

UNIPROT

Missense mutations in the ABCB6 transporter cause dominant familial pseudohyperkalemia.

23180570

2013

dbSNP:

rs397514756

Entrez Id:	10058
Gene Symbol:	ABCB6

ABCB6

CUI:	C3809394
Disease:

DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3

0.800

GeneticVariation

UNIPROT

Mutations in ABCB6 cause dyschromatosis universalis hereditaria.

23519333

2013

dbSNP:

rs397514756

Entrez Id:	10058
Gene Symbol:	ABCB6

ABCB6

CUI:	C3809394
Disease:

DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3

0.800

GeneticVariation

UNIPROT

Novel mutations of ABCB6 associated with autosomal dominant dyschromatosis universalis hereditaria.

24224009

2013

dbSNP:

rs397514757

Entrez Id:	10058
Gene Symbol:	ABCB6

ABCB6

CUI:	C3809394
Disease:

DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3

0.800

GeneticVariation

UNIPROT

Novel mutations of ABCB6 associated with autosomal dominant dyschromatosis universalis hereditaria.

24224009

2013

dbSNP:

rs397514757

Entrez Id:	10058
Gene Symbol:	ABCB6

ABCB6

CUI:	C3809394
Disease:

DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3

0.800

GeneticVariation

UNIPROT

Mutations in ABCB6 cause dyschromatosis universalis hereditaria.

23519333

2013

dbSNP:

rs397514758

Entrez Id:	10058
Gene Symbol:	ABCB6

ABCB6

CUI:	C3809394
Disease:

DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3

0.800

GeneticVariation

UNIPROT

Mutations in ABCB6 cause dyschromatosis universalis hereditaria.

23519333

2013

dbSNP:

rs397514758

Entrez Id:	10058
Gene Symbol:	ABCB6

ABCB6

CUI:	C3809394
Disease:

DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3

0.800

GeneticVariation

UNIPROT

Novel mutations of ABCB6 associated with autosomal dominant dyschromatosis universalis hereditaria.

24224009

2013

dbSNP:

rs754667801

Entrez Id:	10058
Gene Symbol:	ABCB6

ABCB6

CUI:	C1836705
Disease:

Pseudohyperkalemia, Familial, 2, due to Red Cell Leak

0.800

GeneticVariation

UNIPROT

Missense mutations in the ABCB6 transporter cause dominant familial pseudohyperkalemia.

23180570

2013

dbSNP:

rs764893806

Entrez Id:	10058
Gene Symbol:	ABCB6

ABCB6

CUI:	C1836705
Disease:

Pseudohyperkalemia, Familial, 2, due to Red Cell Leak

0.800

GeneticVariation

UNIPROT

Missense mutations in the ABCB6 transporter cause dominant familial pseudohyperkalemia.

23180570

2013

dbSNP:

rs796065353

Entrez Id:	10058
Gene Symbol:	ABCB6

ABCB6

CUI:	C3809394
Disease:

DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3

0.800

GeneticVariation

UNIPROT

Mutations in ABCB6 cause dyschromatosis universalis hereditaria.

23519333

2013

dbSNP:

rs796065353

Entrez Id:	10058
Gene Symbol:	ABCB6

ABCB6

CUI:	C3809394
Disease:

DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3

0.800

GeneticVariation

UNIPROT

Novel mutations of ABCB6 associated with autosomal dominant dyschromatosis universalis hereditaria.

24224009

2013

dbSNP:

rs387906910

Entrez Id:	10058;130617
Gene Symbol:	ABCB6;ZFAND2B

ABCB6;ZFAND2B

CUI:	C3281027
Disease:

MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7

0.800

GeneticVariation

UNIPROT

ABCB6 mutations cause ocular coloboma.

22226084

2012

dbSNP:

rs387906911

Entrez Id:	10058
Gene Symbol:	ABCB6

ABCB6

CUI:	C3281027
Disease:

MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7

0.800

GeneticVariation

UNIPROT

ABCB6 mutations cause ocular coloboma.

22226084

2012

dbSNP:

rs148211042

Entrez Id:	10058
Gene Symbol:	ABCB6

ABCB6

CUI:	C1836705
Disease:

Pseudohyperkalemia, Familial, 2, due to Red Cell Leak

0.800

CausalMutation

CLINVAR