DisGeNET - a database of gene-disease associations

ABCC9, ATP binding cassette subfamily C member 9, 10060

N. diseases: 175; N. variants: 27

Disease: Cantu syndrome ×

Variant: rs387907228 ×

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:

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:

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:

rs387907228

Entrez Id:	10060
Gene Symbol:	ABCC9

ABCC9

CUI:	C0795905
Disease:

Cantu syndrome

0.800

CausalMutation

CLINVAR