Table 2:

Phenotypes of Diseases Associated with Highlighted Transcription Factors in Human Articular Cartilage

Gene	Disease	Relevant Phenotype
DLX6	Isolated split hand-split foot malformation	Skeletal defects
FOXI2	Noonan syndrome	Short stature, skeletal defects
GLI1	Ellis-van Creveld syndrome	Short stature, skeletal defects
HOXD11	Congenital vertical talus	Primary dislocation of the talonavicular joint, foot deformity
NOD2	Blau syndrome	Arthritis, synovitis
PPARGC1B	Kashin-Beck Disease	Dwarfism, severe articular deformities
WNT16	Osteoarthritis	Polymorphisms associated with hip OA phenotypes (hypertrophic vs atrophic) (García-Ibarbia et al., 2017)