ACVRL1, activin A receptor like type 1, 94

N. diseases: 224; N. variants: 114
Disease: Degenerative polyarthritis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.030 AlteredExpression disease BEFREE Notably, sustained rAAV production of TGF-β in OA cartilage advantageously reduced the expression of key OA-associated markers of chondrocyte hypertrophic and terminal differentiation (type-X collagen, MMP-13, PTHrP, β-catenin) while increasing that of protective TIMPs and of the TGF-β receptor I in a manner that restored a favorable ALK1/ALK5 balance. 24034904 2013
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.030 AlteredExpression disease BEFREE In aging cartilage and experimental OA, the ratio ALK1/ALK5 has been found to be increased, and the expression of ALK1 is correlated with matrix metalloproteinase-13 expression. 21638205 2012
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.030 AlteredExpression disease BEFREE In cartilage of mouse models for aging and OA, ALK5 expression decreased much more than ALK1. 19494318 2009