COL10A1, collagen type X alpha 1 chain, 1300

N. diseases: 76; N. variants: 21
Disease: Waddling gait ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0231712
Disease: Waddling gait
Waddling gait 		0.120 GeneticVariation phenotype BEFREE Schmid metaphyseal chondrodysplasia (Schmid MCD, MIM 156500) is caused by mutations in the COL10A1 gene and is clinically characterized by short stature, bowed legs, and a waddling gait. 15578582 2005
CUI: C0231712
Disease: Waddling gait
Waddling gait 		0.120 Biomarker phenotype BEFREE Schmid metaphyseal chondrodysplasia (SMCD; MIM 156500) is an autosomal dominant disorder of the skeleton that is manifested in early childhood by short stature, coxa vara, and a waddling gait. 8986632 1996
CUI: C0231712
Disease: Waddling gait
Waddling gait 		0.120 Biomarker phenotype HPO