Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28939702
rs28939702
ABCC6
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum 		0.800 GeneticVariation UNIPROT Genetic heterogeneity of pseudoxanthoma elasticum: the Chinese signature profile of ABCC6 and ENPP1 mutations. 25615550

2015
dbSNP: rs28939702
rs28939702
ABCC6
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum 		0.800 GeneticVariation UNIPROT An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy. 20034067

2010
dbSNP: rs28939702
rs28939702
ABCC6
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum 		0.800 GeneticVariation UNIPROT The Afrikaner founder mutation, R1339C, was present in 0.41 of white ABCC6 PXE alleles, confirming the founder effect and its presence in both Afrikaans- (34/63 PXE alleles) and English-speakers (4/28). 19339160

2009
dbSNP: rs28939702
rs28939702
ABCC6
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
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
dbSNP: rs28939702
rs28939702
ABCC6
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum 		0.800 GeneticVariation UNIPROT Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6. 16086317

2005
dbSNP: rs28939702
rs28939702
ABCC6
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum 		0.800 GeneticVariation UNIPROT Does autosomal dominant pseudoxanthoma elasticum exist? 15098239

2004
dbSNP: rs28939702
rs28939702
ABCC6
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum 		0.800 GeneticVariation UNIPROT Novel ABCC6 mutations in pseudoxanthoma elasticum. 15086542

2004
dbSNP: rs28939702
rs28939702
ABCC6
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum 		0.800 GeneticVariation UNIPROT ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE). 15459974

2004
dbSNP: rs28939702
rs28939702
ABCC6
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum 		0.800 GeneticVariation UNIPROT Loss of ATP-dependent transport activity in pseudoxanthoma elasticum-associated mutants of human ABCC6 (MRP6). 11880368

2002
dbSNP: rs28939702
rs28939702
ABCC6
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum 		0.800 GeneticVariation UNIPROT Molecular genetics of pseudoxanthoma elasticum: a metabolic disorder at the environment-genome interface? 11427982

2001
dbSNP: rs28939702
rs28939702
ABCC6
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum 		0.800 GeneticVariation UNIPROT Identification of ABCC6 pseudogenes on human chromosome 16p: implications for mutation detection in pseudoxanthoma elasticum. 11702217

2001
dbSNP: rs28939702
rs28939702
ABCC6
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum 		0.800 GeneticVariation UNIPROT A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum. 11536079

2001
dbSNP: rs28939702
rs28939702
ABCC6
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum 		0.800 GeneticVariation UNIPROT Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter. 10811882

2000
dbSNP: rs28939702
rs28939702
ABCC6
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum 		0.800 GeneticVariation UNIPROT Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum. 10954200

2000
dbSNP: rs28939702
rs28939702
ABCC6
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum 		0.800 GeneticVariation UNIPROT Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum. 10835642

2000