DisGeNET - a database of gene-disease associations

CARDIOMYOPATHY, DILATED, 1O, C1837839

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs387907228

ABCC9

0.700

GeneticVariation

CLINVAR

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.

25590979

2015

dbSNP:

rs387907228

ABCC9

0.700

GeneticVariation

CLINVAR

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

23307537

2013

dbSNP:

rs387907228

ABCC9

0.700

GeneticVariation

CLINVAR

Dominant missense mutations in ABCC9 cause Cantú syndrome.

22610116

2012