DisGeNET - a database of gene-disease associations

ABCC9, ATP binding cassette subfamily C member 9, 10060

N. diseases: 175; N. variants: 27

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:

rs387907211

Entrez Id:	10060
Gene Symbol:	ABCC9

ABCC9

CUI:	C0795905
Disease:

Cantu syndrome

0.810

GeneticVariation

BEFREE

These SUR2[A478V] and Kir6.1[V65M] animals thus reiterate the key cardiovascular features seen in human CS.

30089727

2018

dbSNP:

rs387907211

Entrez Id:	10060
Gene Symbol:	ABCC9

ABCC9

CUI:	C0795905
Disease:

Cantu syndrome

0.810

GeneticVariation

UNIPROT

Differential mechanisms of Cantú syndrome-associated gain of function mutations in the ABCC9 (SUR2) subunit of the KATP channel.

26621776

2015

dbSNP:

rs387907211

Entrez Id:	10060
Gene Symbol:	ABCC9

ABCC9

CUI:	C0795905
Disease:

Cantu syndrome

0.810

GeneticVariation

UNIPROT

Cantú syndrome is caused by mutations in ABCC9.

22608503

2012

dbSNP:

rs387907211

Entrez Id:	10060
Gene Symbol:	ABCC9

ABCC9

CUI:	C0795905
Disease:

Cantu syndrome

0.810

GeneticVariation

UNIPROT

Dominant missense mutations in ABCC9 cause Cantú syndrome.

22610116

2012

dbSNP:

rs387907211

Entrez Id:	10060
Gene Symbol:	ABCC9

ABCC9

CUI:	C0795905
Disease:

Cantu syndrome

0.810

CausalMutation

CLINVAR

dbSNP:

rs387907208

Entrez Id:	10060
Gene Symbol:	ABCC9

ABCC9

CUI:	C0795905
Disease:

Cantu syndrome

0.800

GeneticVariation

UNIPROT

Differential mechanisms of Cantú syndrome-associated gain of function mutations in the ABCC9 (SUR2) subunit of the KATP channel.

26621776

2015

dbSNP:

rs387907209

Entrez Id:	10060
Gene Symbol:	ABCC9

ABCC9

CUI:	C0795905
Disease:

Cantu syndrome

0.800

GeneticVariation

UNIPROT

Differential mechanisms of Cantú syndrome-associated gain of function mutations in the ABCC9 (SUR2) subunit of the KATP channel.

26621776

2015

dbSNP:

rs387907210

Entrez Id:	10060
Gene Symbol:	ABCC9

ABCC9

CUI:	C0795905
Disease:

Cantu syndrome

0.800

GeneticVariation

UNIPROT

Differential mechanisms of Cantú syndrome-associated gain of function mutations in the ABCC9 (SUR2) subunit of the KATP channel.

26621776

2015

dbSNP:

rs387907227

Entrez Id:	10060
Gene Symbol:	ABCC9

ABCC9

CUI:	C0795905
Disease:

Cantu syndrome

0.800

GeneticVariation

UNIPROT

Differential mechanisms of Cantú syndrome-associated gain of function mutations in the ABCC9 (SUR2) subunit of the KATP channel.

26621776

2015

dbSNP:

rs387907228

Entrez Id:	10060
Gene Symbol:	ABCC9

ABCC9

CUI:	C0795905
Disease:

Cantu syndrome

0.800

GeneticVariation

UNIPROT

Differential mechanisms of Cantú syndrome-associated gain of function mutations in the ABCC9 (SUR2) subunit of the KATP channel.

26621776

2015

dbSNP:

rs387907229

Entrez Id:	10060
Gene Symbol:	ABCC9

ABCC9

CUI:	C0795905
Disease:

Cantu syndrome

0.800

GeneticVariation

UNIPROT

Differential mechanisms of Cantú syndrome-associated gain of function mutations in the ABCC9 (SUR2) subunit of the KATP channel.

26621776

2015

dbSNP:

rs387907230

Entrez Id:	10060
Gene Symbol:	ABCC9

ABCC9

CUI:	C0795905
Disease:

Cantu syndrome

0.800

GeneticVariation

UNIPROT

Differential mechanisms of Cantú syndrome-associated gain of function mutations in the ABCC9 (SUR2) subunit of the KATP channel.

26621776

2015

dbSNP:

rs387907227

Entrez Id:	10060
Gene Symbol:	ABCC9

ABCC9

CUI:	C0795905
Disease:

Cantu syndrome

0.800

CausalMutation

CLINVAR

Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9.

23307537

2013

dbSNP:

rs387907208

Entrez Id:	10060
Gene Symbol:	ABCC9

ABCC9

CUI:	C0795905
Disease:

Cantu syndrome

0.800

GeneticVariation

UNIPROT

Cantú syndrome is caused by mutations in ABCC9.

22608503

2012

dbSNP:

rs387907208

Entrez Id:	10060
Gene Symbol:	ABCC9

ABCC9

CUI:	C0795905
Disease:

Cantu syndrome

0.800

GeneticVariation

UNIPROT

Dominant missense mutations in ABCC9 cause Cantú syndrome.

22610116

2012

dbSNP:

rs387907209

Entrez Id:	10060
Gene Symbol:	ABCC9

ABCC9

CUI:	C0795905
Disease:

Cantu syndrome

0.800

GeneticVariation

UNIPROT

Dominant missense mutations in ABCC9 cause Cantú syndrome.

22610116

2012

dbSNP:

rs387907209

Entrez Id:	10060
Gene Symbol:	ABCC9

ABCC9

CUI:	C0795905
Disease:

Cantu syndrome

0.800

GeneticVariation

UNIPROT

Cantú syndrome is caused by mutations in ABCC9.

22608503

2012

dbSNP:

rs387907210

Entrez Id:	10060
Gene Symbol:	ABCC9

ABCC9

CUI:	C0795905
Disease:

Cantu syndrome

0.800

GeneticVariation

UNIPROT

Dominant missense mutations in ABCC9 cause Cantú syndrome.

22610116

2012

dbSNP:

rs387907210

Entrez Id:	10060
Gene Symbol:	ABCC9

ABCC9

CUI:	C0795905
Disease:

Cantu syndrome

0.800

GeneticVariation

UNIPROT

Cantú syndrome is caused by mutations in ABCC9.

22608503

2012

dbSNP:

rs387907227

Entrez Id:	10060
Gene Symbol:	ABCC9

ABCC9

CUI:	C0795905
Disease:

Cantu syndrome

0.800

GeneticVariation

UNIPROT

Cantú syndrome is caused by mutations in ABCC9.

22608503

2012

dbSNP:

rs387907227

Entrez Id:	10060
Gene Symbol:	ABCC9

ABCC9

CUI:	C0795905
Disease:

Cantu syndrome

0.800

CausalMutation

CLINVAR

Dominant missense mutations in ABCC9 cause Cantú syndrome.

22610116

2012

dbSNP:

rs387907227

Entrez Id:	10060
Gene Symbol:	ABCC9

ABCC9

CUI:	C0795905
Disease:

Cantu syndrome

0.800

GeneticVariation

UNIPROT

Dominant missense mutations in ABCC9 cause Cantú syndrome.

22610116

2012

dbSNP:

rs387907228

Entrez Id:	10060
Gene Symbol:	ABCC9

ABCC9

CUI:	C0795905
Disease:

Cantu syndrome

0.800

GeneticVariation

UNIPROT

Dominant missense mutations in ABCC9 cause Cantú syndrome.

22610116

2012

dbSNP:

rs387907228

Entrez Id:	10060
Gene Symbol:	ABCC9

ABCC9

CUI:	C0795905
Disease:

Cantu syndrome

0.800

GeneticVariation

UNIPROT

Cantú syndrome is caused by mutations in ABCC9.

22608503

2012

dbSNP:

rs387907229

Entrez Id:	10060
Gene Symbol:	ABCC9

ABCC9

CUI:	C0795905
Disease:

Cantu syndrome

0.800

GeneticVariation

UNIPROT

Cantú syndrome is caused by mutations in ABCC9.

22608503

2012