Table S7.

Summary of two spondylolysis-causal genes and their interacted molecules involving lumbar spine

Gene symbol	Full name	Function	Interacting protein	Causing diseases	Pathway	Source
BMPR1B	Bone morphogenetic protein receptor, type IB	Activate SMAD transcriptional regulators	GDF5	Brachydactyly, type A2; chrondrodysplasia	TGF-β pathway; and BMP signaling	43
CFTR	Cystic fibrosis transmembrane conductance regulator	Transport of chloride ions, etc.	SLC26A3 and SLC26A2, etc.	Cystic fibrosis, lumbar disk herniation	Transport of small molecules	24
GDF5	Growth differentiation factor 5 (i.e., CDMP-1)	Bone and cartilage formation	BMPR1B	Type C brachydactyly, also spondylolysis and spondylolisthesis	TGF-β pathway	20, 52
SLC26A2	Solute carrier family 26 (anion exchanger), member 2	Endochondral bone formation	CFTR (predicted by homolog SLC26A3)	Spondylolysis and spondylolisthesis, also platyspondylia, epiphyseal dysplasia, etc.	Anion exchanger	This study; also 31