rs72650700, ABCC6

N. diseases: 12
Disease: Pseudoxanthoma Elasticum, Incomplete ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Pseudoxanthoma Elasticum, Incomplete
CUI: C1867450
Disease: Pseudoxanthoma Elasticum, Incomplete
0.700 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
Pseudoxanthoma Elasticum, Incomplete
CUI: C1867450
Disease: Pseudoxanthoma Elasticum, Incomplete
0.700 CausalMutation CLINVAR Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. 22209248 2012
Pseudoxanthoma Elasticum, Incomplete
CUI: C1867450
Disease: Pseudoxanthoma Elasticum, Incomplete
0.700 CausalMutation CLINVAR Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11. 11439001 2001