CHADL, chondroadherin like, 150356

N. diseases: 4; N. variants: 2
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 		0.110 GeneticVariation disease BEFREE We discovered two rare signals that strongly associate with osteoarthritis total hip replacement: a missense variant, c.1141G>C (p.Asp369His), in the COMP gene (allelic frequency = 0.026%, P = 4.0 × 10<sup>-12</sup>, odds ratio (OR) = 16.7) and a frameshift mutation, rs532464664 (p.Val330Glyfs*106), in the CHADL gene that associates through a recessive mode of inheritance (homozygote frequency = 0.15%, P = 4.5 × 10<sup>-18</sup>, OR = 7.71). 28319091 2017
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.110 GeneticVariation disease GWASCAT Whole-genome sequencing identifies rare genotypes in COMP and CHADL associated with high risk of hip osteoarthritis. 28319091 2017