ABCC6, ATP binding cassette subfamily C member 6, 368

N. diseases: 181; N. variants: 320
Disease: Pseudoxanthoma Elasticum, Incomplete ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72650700
rs72650700
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
CUI: C1867450
Disease:
Pseudoxanthoma Elasticum, Incomplete 		A 0.700 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
dbSNP: rs72650700
rs72650700
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
CUI: C1867450
Disease:
Pseudoxanthoma Elasticum, Incomplete 		A 0.700 CausalMutation CLINVAR Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. 22209248 2012
dbSNP: rs72650700
rs72650700
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
CUI: C1867450
Disease:
Pseudoxanthoma Elasticum, Incomplete 		A 0.700 CausalMutation CLINVAR Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11. 11439001 2001