Table 3.

Gene lists associated with osteogenesis imperfecta and combined pituitary hormone deficiency.

Phenotype	Genes
Osteogenesis imperfecta	FKBP10, LEPRE1, PPIB, BMP1, COL1A1, COL1A2, CREB3L1, CRTAP, IFITM5, MBTPS2, PLOD2, SERPINF1, SERPINH1, SP7, TMEM38B, WNT1, SEC24D, SPARC
Combined pituitary hormone deficiency	AAAS, AANAT, AES, ALK, ANXA1, AR, ARNT2, BGLAP, BLVRB, CDA, CRH, CSF2, CSHL1, CUL4B, CYP19A1, DRD2, ELANE, EPO, ERBB2, ESR1, F2, FOXA2, GH1, GH2, GHR, GHRH, GHRHR, GHSR, GLI2, GLIS3, HESX1, IGF1, IGF1R, IGFBP3, IGHD, IGSF1, INSM1, INSR, KLK3, LHX3, LHX4, MC2R, MCHR1, MRAP, NBEA, NF1, NKX2-1, NKX2-5, NOG, OTP, OTX2, PAX8, PLAT, POMC, POU1F1, POU3F2, PRL, PROP1, PTTG1IP, REN, SERPINA1, SHOX, SHOXY, SIM1, SIX6, SLC6A3, SOX2, SOX3, SST, STAT5B, SYTL4, TBG, THRA, TNFSF11, TRH, TSHB, TSHR, VWF, WNT4, XRCC4, ZIC2 (HP:0000871, HP:0000824, HP:0000851)