ABCC6, ATP binding cassette subfamily C member 6, 368

N. diseases: 181; N. variants: 320
Disease: Pseudoxanthoma Elasticum, Incomplete ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1867450
Disease: Pseudoxanthoma Elasticum, Incomplete
Pseudoxanthoma Elasticum, Incomplete 		0.600 CausalMutation disease CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
CUI: C1867450
Disease: Pseudoxanthoma Elasticum, Incomplete
Pseudoxanthoma Elasticum, Incomplete 		0.600 Biomarker disease CTD_human Vitamin K reduces hypermineralisation in zebrafish models of PXE and GACI. 25758222 2015
CUI: C1867450
Disease: Pseudoxanthoma Elasticum, Incomplete
Pseudoxanthoma Elasticum, Incomplete 		0.600 Biomarker disease CTD_human Warfarin accelerates ectopic mineralization in Abcc6(-/-) mice: clinical relevance to pseudoxanthoma elasticum. 23415960 2013
CUI: C1867450
Disease: Pseudoxanthoma Elasticum, Incomplete
Pseudoxanthoma Elasticum, Incomplete 		0.600 CausalMutation disease CLINVAR Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. 22209248 2012
CUI: C1867450
Disease: Pseudoxanthoma Elasticum, Incomplete
Pseudoxanthoma Elasticum, Incomplete 		0.600 Biomarker disease GENOMICS_ENGLAND Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes. 18800149 2009
CUI: C1867450
Disease: Pseudoxanthoma Elasticum, Incomplete
Pseudoxanthoma Elasticum, Incomplete 		0.600 Biomarker disease CTD_human Pseudoxanthoma elasticum: oxidative stress and antioxidant diet in a mouse model (Abcc6-/-). 18049453 2008
CUI: C1867450
Disease: Pseudoxanthoma Elasticum, Incomplete
Pseudoxanthoma Elasticum, Incomplete 		0.600 Biomarker disease CTD_human Expression of the human ABCC6 gene is induced by retinoids through the retinoid X receptor. 17045963 2006
CUI: C1867450
Disease: Pseudoxanthoma Elasticum, Incomplete
Pseudoxanthoma Elasticum, Incomplete 		0.600 Biomarker disease CTD_human Polymorphisms in the xylosyltransferase genes cause higher serum XT-I activity in patients with pseudoxanthoma elasticum (PXE) and are involved in a severe disease course. 16571645 2006
CUI: C1867450
Disease: Pseudoxanthoma Elasticum, Incomplete
Pseudoxanthoma Elasticum, Incomplete 		0.600 Biomarker disease CTD_human 14667841 2003
CUI: C1867450
Disease: Pseudoxanthoma Elasticum, Incomplete
Pseudoxanthoma Elasticum, Incomplete 		0.600 Biomarker disease CTD_human Nucleotide binding and nucleotide hydrolysis properties of the ABC transporter MRP6 (ABCC6). 12069597 2002
CUI: C1867450
Disease: Pseudoxanthoma Elasticum, Incomplete
Pseudoxanthoma Elasticum, Incomplete 		0.600 Biomarker disease CTD_human Loss of ATP-dependent transport activity in pseudoxanthoma elasticum-associated mutants of human ABCC6 (MRP6). 11880368 2002
CUI: C1867450
Disease: Pseudoxanthoma Elasticum, Incomplete
Pseudoxanthoma Elasticum, Incomplete 		0.600 CausalMutation disease CLINVAR Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11. 11439001 2001
CUI: C1867450
Disease: Pseudoxanthoma Elasticum, Incomplete
Pseudoxanthoma Elasticum, Incomplete 		0.600 Biomarker disease GENOMICS_ENGLAND Mutations in ABCC6 cause pseudoxanthoma elasticum. 10835643 2000
CUI: C1867450
Disease: Pseudoxanthoma Elasticum, Incomplete
Pseudoxanthoma Elasticum, Incomplete 		0.600 Biomarker disease GENOMICS_ENGLAND Pseudoxanthoma elasticum: a review of neurological complications. 697322 1978
CUI: C1867450
Disease: Pseudoxanthoma Elasticum, Incomplete
Pseudoxanthoma Elasticum, Incomplete 		0.600 Biomarker disease GENOMICS_ENGLAND