| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | CausalMutation | disease | CLINVAR | A novel ABCC6 variant causative of pseudoxanthoma elasticum. | 31240106 | 2019 | ||||
|
1.000 | CausalMutation | disease | CLINVAR | Molecular diagnostic experience of whole-exome sequencing in adult patients. | 26633545 | 2016 | ||||
|
1.000 | CausalMutation | disease | CLINVAR | Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. | 22209248 | 2012 | ||||
|
1.000 | CausalMutation | disease | CLINVAR | This study emphasises the principal role of ABCC6 mutations in the pathogenesis of PXE, but the reasons for phenotypic variability remain to be explored. | 17617515 | 2007 | ||||
|
1.000 | CausalMutation | disease | CLINVAR | These data contribute to the expanding database of ABCC6 mutations, to the description of phenotypic variability, and inheritance in PXE, and should be helpful for genetic counselling. | 15086542 | 2004 | ||||
|
1.000 | CausalMutation | disease | CLINVAR | Mutation analysis on the other allele of the family, as well as on two additional sporadic cases, revealed nonsense (Y227X, R518X, R1164X) and frame-shift (c.960delC) mutations in ABCC6 (MRP6) further confirming the role of this multi-drug resistance gene in the etiology of pseudoxanthoma elasticum. | 11439001 | 2001 | ||||
|
1.000 | CausalMutation | disease | CLINVAR | We discuss the potential structural and functional significance of this mutation pattern within the context of the complex relationship between the PXE phenotype and the function of ABCC6. | 11536079 | 2001 | ||||
|
1.000 | CausalMutation | disease | CLINVAR | Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum. | 10954200 | 2000 | ||||
|
1.000 | GeneticVariation | disease | CLINVAR |