Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum
1.000 GeneticVariation LHGDN Compound heterozygosity for a novel and a recurrent ABCC6 gene mutation in an Italian family with Pseudoxanthoma elasticum. 18029147

2008

Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum
1.000 Biomarker LHGDN In total, 188 different ABCC6 mutations have now been reported in PXE in the literature. 18253096

2008

Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum
1.000 GeneticVariation LHGDN 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

Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum
1.000 GeneticVariation LHGDN Heterozygote carriers of ABCC6 mutations may have a limited PXE phenotype. 17309461

2007

Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum
1.000 GeneticVariation LHGDN In our cohort of 65 French PXE patients analysed for ABCC6 mutations, we identified two novel homozygous ABCC6 exonic deletions (deletions of exons 9-10 and exons 24-27). 17823974

2007

Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum
1.000 Biomarker LHGDN This pilot study shows elastic fibers similar to those of PXE in the lesional skin of patients with a variety of inflammatory skin diseases in the absence of clinical evidence of PXE; and some of these patients harbor changes in ABCC6. 17880583

2007

Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum
1.000 Biomarker LHGDN We speculated that ABCC6 deficiency in PXE patients induces a persistent imbalance in circulating metabolite(s), which may impair the synthetic abilities of normal elastoblasts or specifically alter elastic fiber assembly. 16543900

2006

Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum
1.000 GeneticVariation LHGDN Frequent alterations were the PXE-mutations p.R1141X, Ex23,_Ex29del, and c.2787+1G > T. In the ABCC6 promoter we found the polymorphisms c.-127C > T, c.-132C > T, and c.-219A > C. The difference in the c.-219A > C frequencies between PXE patients and controls were determined as statistically significant. 16835894

2006

Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum
1.000 GeneticVariation LHGDN ABCC6 encodes the protein ABCC6 (also known as MRP6), a member of the large ATP dependent transmembrane transporter family that is expressed predominantly in the liver and kidneys, and only to a lesser extent in tissues affected by PXE. 15894595

2005

Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum
1.000 GeneticVariation LHGDN This study examined novel mutations in the ABCC6 gene in our cohort of 76 German PXE patients and 54 unaffected or not yet affected relatives with a view to expanding the known mutational spectrum of the gene. 15723264

2005

Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum
1.000 GeneticVariation LHGDN Chromosomal haplotyping with two proximal and two distal polymorphic markers flanking ABCC6 demonstrated that most chromosomes that carry these relatively frequent PXE mutations have related haplotypes specific for these mutations, which suggests that these chromosomes originate from single founder mutations. 16086317

2005

Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum
1.000 GeneticVariation LHGDN To our knowledge, this is the first report of mutation identification in the ABCC6 gene in Japanese PXE patients. 15645653

2004

Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum
1.000 GeneticVariation LHGDN The ABCC6 gene was sequenced in 38 unrelated PXE Italian families.The mutation detection rate was 82.9%. 15459974

2004

Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum
1.000 GeneticVariation LHGDN The ABCC6 R1141X mutation was found on 19 alleles in 16 patients with PXE and occurred in heterozygous, homozygous, or compound heterozygous form. 12714611

2003

Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum
1.000 GeneticVariation LHGDN So far, the substrates transported by the ABCC6 protein and its physiological role in the etiology of pseudoxanthoma elasticum are not known. 12850230

2003

Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum
1.000 AlteredExpression LHGDN In this study, we present the mutation spectrum of ABCC6/MRP6 in 59 PXE patients from the Netherlands. 12673275

2003

Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum
1.000 GeneticVariation LHGDN 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

Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum
1.000 GeneticVariation LHGDN 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