ABCC6, ATP binding cassette subfamily C member 6, 368

N. diseases: 181; N. variants: 320
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750402
rs63750402
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
CUI: C0033847
Disease:
Pseudoxanthoma Elasticum 		0.810 GeneticVariation BEFREE The two siblings were trans-compound heterozygous pseudoxanthoma elasticum (PXE) patients with the same genotype (c.3703C>T and c.1177-2A>G for ABCC6) but different phenotypes. 30328268 2019
dbSNP: rs63750402
rs63750402
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
CUI: C0033847
Disease:
Pseudoxanthoma Elasticum 		0.810 GeneticVariation UNIPROT Genetic heterogeneity of pseudoxanthoma elasticum: the Chinese signature profile of ABCC6 and ENPP1 mutations. 25615550 2015
dbSNP: rs63750759
rs63750759
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
CUI: C0033847
Disease:
Pseudoxanthoma Elasticum 		0.810 GeneticVariation UNIPROT Genetic heterogeneity of pseudoxanthoma elasticum: the Chinese signature profile of ABCC6 and ENPP1 mutations. 25615550 2015
dbSNP: rs63750759
rs63750759
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
CUI: C0033847
Disease:
Pseudoxanthoma Elasticum 		0.810 GeneticVariation BEFREE However, 4-PBA, a drug approved for clinical use, restored the plasma membrane localization of four ABCC6 mutants (R1114P, S1121W, Q1347H, and R1314W), suggesting that allele-specific therapy may be useful for selected patients with PXE and GACI. 24352041 2014
dbSNP: rs63750402
rs63750402
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
CUI: C0033847
Disease:
Pseudoxanthoma Elasticum 		0.810 GeneticVariation UNIPROT An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy. 20034067 2010
dbSNP: rs63750759
rs63750759
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
CUI: C0033847
Disease:
Pseudoxanthoma Elasticum 		0.810 GeneticVariation UNIPROT An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy. 20034067 2010
dbSNP: rs63750402
rs63750402
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
CUI: C0033847
Disease:
Pseudoxanthoma Elasticum 		0.810 GeneticVariation UNIPROT Spectrum of genetic variation at the ABCC6 locus in South Africans: Pseudoxanthoma elasticum patients and healthy individuals. 19339160 2009
dbSNP: rs63750759
rs63750759
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
CUI: C0033847
Disease:
Pseudoxanthoma Elasticum 		0.810 GeneticVariation UNIPROT Spectrum of genetic variation at the ABCC6 locus in South Africans: Pseudoxanthoma elasticum patients and healthy individuals. 19339160 2009
dbSNP: rs63750402
rs63750402
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
CUI: C0033847
Disease:
Pseudoxanthoma Elasticum 		0.810 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: rs63750759
rs63750759
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
CUI: C0033847
Disease:
Pseudoxanthoma Elasticum 		0.810 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: rs63750402
rs63750402
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
CUI: C0033847
Disease:
Pseudoxanthoma Elasticum 		0.810 GeneticVariation UNIPROT Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6. 16086317 2005
dbSNP: rs63750759
rs63750759
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
CUI: C0033847
Disease:
Pseudoxanthoma Elasticum 		0.810 GeneticVariation UNIPROT Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6. 16086317 2005
dbSNP: rs63750402
rs63750402
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
CUI: C0033847
Disease:
Pseudoxanthoma Elasticum 		0.810 GeneticVariation UNIPROT ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE). 15459974 2004
dbSNP: rs63750402
rs63750402
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
CUI: C0033847
Disease:
Pseudoxanthoma Elasticum 		0.810 GeneticVariation UNIPROT Novel ABCC6 mutations in pseudoxanthoma elasticum. 15086542 2004
dbSNP: rs63750402
rs63750402
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
CUI: C0033847
Disease:
Pseudoxanthoma Elasticum 		0.810 GeneticVariation UNIPROT Does autosomal dominant pseudoxanthoma elasticum exist? 15098239 2004
dbSNP: rs63750759
rs63750759
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
CUI: C0033847
Disease:
Pseudoxanthoma Elasticum 		0.810 GeneticVariation UNIPROT Does autosomal dominant pseudoxanthoma elasticum exist? 15098239 2004
dbSNP: rs63750759
rs63750759
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
CUI: C0033847
Disease:
Pseudoxanthoma Elasticum 		0.810 GeneticVariation UNIPROT Novel ABCC6 mutations in pseudoxanthoma elasticum. 15086542 2004
dbSNP: rs63750759
rs63750759
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
CUI: C0033847
Disease:
Pseudoxanthoma Elasticum 		0.810 GeneticVariation UNIPROT ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE). 15459974 2004
dbSNP: rs63750402
rs63750402
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
CUI: C0033847
Disease:
Pseudoxanthoma Elasticum 		0.810 GeneticVariation UNIPROT Loss of ATP-dependent transport activity in pseudoxanthoma elasticum-associated mutants of human ABCC6 (MRP6). 11880368 2002
dbSNP: rs63750759
rs63750759
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
CUI: C0033847
Disease:
Pseudoxanthoma Elasticum 		0.810 GeneticVariation UNIPROT Loss of ATP-dependent transport activity in pseudoxanthoma elasticum-associated mutants of human ABCC6 (MRP6). 11880368 2002
dbSNP: rs63750402
rs63750402
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
CUI: C0033847
Disease:
Pseudoxanthoma Elasticum 		0.810 GeneticVariation UNIPROT Identification of ABCC6 pseudogenes on human chromosome 16p: implications for mutation detection in pseudoxanthoma elasticum. 11702217 2001
dbSNP: rs63750402
rs63750402
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
CUI: C0033847
Disease:
Pseudoxanthoma Elasticum 		0.810 GeneticVariation UNIPROT A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum. 11536079 2001
dbSNP: rs63750402
rs63750402
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
CUI: C0033847
Disease:
Pseudoxanthoma Elasticum 		0.810 GeneticVariation UNIPROT Molecular genetics of pseudoxanthoma elasticum: a metabolic disorder at the environment-genome interface? 11427982 2001
dbSNP: rs63750759
rs63750759
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
CUI: C0033847
Disease:
Pseudoxanthoma Elasticum 		0.810 GeneticVariation UNIPROT Identification of ABCC6 pseudogenes on human chromosome 16p: implications for mutation detection in pseudoxanthoma elasticum. 11702217 2001
dbSNP: rs63750759
rs63750759
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
CUI: C0033847
Disease:
Pseudoxanthoma Elasticum 		0.810 GeneticVariation UNIPROT Molecular genetics of pseudoxanthoma elasticum: a metabolic disorder at the environment-genome interface? 11427982 2001