Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Pseudoxanthoma Elasticum
|
0.800 | GeneticVariation | UNIPROT | Spectrum of genetic variation at the ABCC6 locus in South Africans: Pseudoxanthoma elasticum patients and healthy individuals. | 19339160 | 2009 | |||||
Pseudoxanthoma Elasticum
|
0.800 | GeneticVariation | UNIPROT | Loss of ATP-dependent transport activity in pseudoxanthoma elasticum-associated mutants of human ABCC6 (MRP6). | 11880368 | 2002 | |||||
Pseudoxanthoma Elasticum
|
0.800 | GeneticVariation | UNIPROT | Genetic heterogeneity of pseudoxanthoma elasticum: the Chinese signature profile of ABCC6 and ENPP1 mutations. | 25615550 | 2015 | |||||
Pseudoxanthoma Elasticum
|
0.800 | GeneticVariation | UNIPROT | A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum. | 11536079 | 2001 | |||||
Pseudoxanthoma Elasticum
|
0.800 | GeneticVariation | UNIPROT | Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum. | 17617515 | 2007 | |||||
Pseudoxanthoma Elasticum
|
0.800 | GeneticVariation | UNIPROT | Identification of ABCC6 pseudogenes on human chromosome 16p: implications for mutation detection in pseudoxanthoma elasticum. | 11702217 | 2001 | |||||
Pseudoxanthoma Elasticum
|
0.800 | GeneticVariation | UNIPROT | An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy. | 20034067 | 2010 | |||||
Pseudoxanthoma Elasticum
|
0.800 | GeneticVariation | UNIPROT | Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum. | 10954200 | 2000 | |||||
Pseudoxanthoma Elasticum
|
0.800 | GeneticVariation | UNIPROT | ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE). | 15459974 | 2004 | |||||
Pseudoxanthoma Elasticum
|
0.800 | GeneticVariation | UNIPROT | Novel ABCC6 mutations in pseudoxanthoma elasticum. | 15086542 | 2004 | |||||
Pseudoxanthoma Elasticum
|
0.800 | GeneticVariation | UNIPROT | Does autosomal dominant pseudoxanthoma elasticum exist? | 15098239 | 2004 | |||||
Pseudoxanthoma Elasticum
|
0.800 | GeneticVariation | UNIPROT | Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6. | 16086317 | 2005 | |||||
Pseudoxanthoma Elasticum
|
0.800 | GeneticVariation | UNIPROT | Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter. | 10811882 | 2000 | |||||
Pseudoxanthoma Elasticum
|
0.800 | GeneticVariation | UNIPROT | Molecular genetics of pseudoxanthoma elasticum: a metabolic disorder at the environment-genome interface? | 11427982 | 2001 | |||||
Pseudoxanthoma Elasticum
|
0.800 | GeneticVariation | UNIPROT | Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum. | 10835642 | 2000 | |||||
Pseudoxanthoma Elasticum
|
0.800 | CausalMutation | CLINVAR |