We used DEPICT to prioritize 649 genes (at FDR<0.05) within height-associated loci (Table 3 and Supplementary Table 16). Of these 649 genes, 202 genes (31%) were either significant in the GRAIL analysis (Supplementary Tables 13 and 16) and/or overlapped with a list of abnormal skeletal growth syndromes that we assembled from the OMIM database12 (n=40; Supplementary Tables 9 and 16). Many other newly prioritized genes had additional supporting evidence (Supplementary Table 16), including specific expression in the growth plate12, and/or connections to relevant pathways (for example: GLI2 and LAMA5 [hedgehog signaling]; FRS2 [FGF signaling]; AXIN2, NFATC1, CTNNB1, FBXW11, WNT4, WNT5A and VANGL2 [WNT/beta-catenin signaling]; SMAD3 and MTOR [TGF-beta and/or mTOR signaling]; WWP2/miR140, IBSP, SHOX2 and SP3 [required in mice for proper bone and cartilage formation]; CHYS1, DSE and PCOLCE2 [glycosaminoglycan/collagen metabolism]; SCARA3, COPZ2, TBX18, CRISPLD1 and SLIT3 [differential expression in growth plate and predicted to be in highly relevant pathways]).
