ABCC6, ATP binding cassette subfamily C member 6, 368

N. diseases: 181; N. variants: 320
Disease: Gronblad-Strandberg Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0376359
Disease: Gronblad-Strandberg Syndrome
Gronblad-Strandberg Syndrome 		0.300 Biomarker disease CTD_human Vitamin K reduces hypermineralisation in zebrafish models of PXE and GACI. 25758222 2015
CUI: C0376359
Disease: Gronblad-Strandberg Syndrome
Gronblad-Strandberg Syndrome 		0.300 Biomarker disease CTD_human Warfarin accelerates ectopic mineralization in Abcc6(-/-) mice: clinical relevance to pseudoxanthoma elasticum. 23415960 2013
CUI: C0376359
Disease: Gronblad-Strandberg Syndrome
Gronblad-Strandberg Syndrome 		0.300 Biomarker disease CTD_human Pseudoxanthoma elasticum: oxidative stress and antioxidant diet in a mouse model (Abcc6-/-). 18049453 2008
CUI: C0376359
Disease: Gronblad-Strandberg Syndrome
Gronblad-Strandberg Syndrome 		0.300 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: C0376359
Disease: Gronblad-Strandberg Syndrome
Gronblad-Strandberg Syndrome 		0.300 Biomarker disease CTD_human Expression of the human ABCC6 gene is induced by retinoids through the retinoid X receptor. 17045963 2006
CUI: C0376359
Disease: Gronblad-Strandberg Syndrome
Gronblad-Strandberg Syndrome 		0.300 Biomarker disease CTD_human 14667841 2003
CUI: C0376359
Disease: Gronblad-Strandberg Syndrome
Gronblad-Strandberg Syndrome 		0.300 Biomarker disease CTD_human Nucleotide binding and nucleotide hydrolysis properties of the ABC transporter MRP6 (ABCC6). 12069597 2002
CUI: C0376359
Disease: Gronblad-Strandberg Syndrome
Gronblad-Strandberg Syndrome 		0.300 Biomarker disease CTD_human Loss of ATP-dependent transport activity in pseudoxanthoma elasticum-associated mutants of human ABCC6 (MRP6). 11880368 2002