Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
OSTEOGENESIS IMPERFECTA	C0029434 MESH:D010013 MONDO:0019019PS166200	ALPL	Causal	—	Disgenet	Thiamine metabolism Folate biosynthesis Metabolic pathways +2 more
		BMP1	Causal	—	Disgenet	Degradation of the extracellular matrix Collagen biosynthesis and modifying enzymes Anchoring fibril formation +2 more
		COL1A1	Causal	10608859 16407265 17078022 19669491 24443344 2450280 25633413 28206959 3016737 31653500 35113812 6519194 7942841 8757037	CTD, ClinGen, ClinVar, Disgenet, GWAS catalog	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +26 more
		COL1A2	Causal	2897363	ClinVar, Disgenet, GWAS catalog	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +27 more
		CREB3L1	Causal	—	Disgenet	cGMP-PKG signaling pathway cAMP signaling pathway PI3K-Akt signaling pathway +32 more
		CRTAP	Causal	18566967	CTD, Disgenet	Collagen biosynthesis and modifying enzymes
		EIF2B2	Causal	—	Disgenet	Herpes simplex virus 1 infection Recycling of eIF2:GDP
		FKBP10	Causal	—	Disgenet	—
		LRP5	Causal	—	Disgenet	mTOR signaling pathway Wnt signaling pathway Parathyroid hormone synthesis, secretion and action +11 more
		P3H1	Causal	18566967	CTD, Disgenet	Collagen biosynthesis and modifying enzymes
		PLOD2	Causal	22689593	Disgenet	Lysine degradation Metabolic pathways Collagen biosynthesis and modifying enzymes
		PPIB	Causal	—	Disgenet	Collagen biosynthesis and modifying enzymes
		SERPINF1	Causal	—	Disgenet	Wnt signaling pathway
		TMEM38B	Causal	—	Disgenet	—
		WNT1	Causal	—	Disgenet	mTOR signaling pathway Wnt signaling pathway Hippo signaling pathway +17 more
OSTEOGENESIS IMPERFECTA TYPE 10	MONDO:0013459	SERPINH1	Causal	10995453 20188343 25510505 26004778 26692483 27677223 27838364 29150909 29520608 31179625	ClinVar, GWAS catalog	Collagen biosynthesis and modifying enzymes
OSTEOGENESIS IMPERFECTA TYPE 11	MONDO:0012592	FKBP10	Causal	20362275 20839288 21567934 24777781 27762305	ClinVar, Disgenet	—
OSTEOGENESIS IMPERFECTA TYPE 12	MONDO:0013460	SP7	Causal	11792318 20579626 29382611	ClinVar, GWAS catalog	—
OSTEOGENESIS IMPERFECTA TYPE 13	MONDO:0013924	BMP1	Causal	24419319 25214535 25402547 25656619 27509835 27576954 28257626 30408480 8951074	ClinVar, GWAS catalog	Degradation of the extracellular matrix Collagen biosynthesis and modifying enzymes Anchoring fibril formation +2 more
OSTEOGENESIS IMPERFECTA TYPE 14	MONDO:0014029	TMEM38B	Causal	17611541 23054245 23499310 26911354	ClinVar, Disgenet	—
OSTEOGENESIS IMPERFECTA TYPE 15	MONDO:0014086	WNT1	Causal	23499309	CTD, ClinVar	mTOR signaling pathway Wnt signaling pathway Hippo signaling pathway +17 more
OSTEOGENESIS IMPERFECTA TYPE 16	MONDO:0014544	CREB3L1	Causal	19767743 24079343 24716865 26558437 28817112 29936144 30657919 31207160	ClinVar, Disgenet	cGMP-PKG signaling pathway cAMP signaling pathway PI3K-Akt signaling pathway +32 more
OSTEOGENESIS IMPERFECTA TYPE 17	MONDO:0014672	SPARC	Causal	26027498	ClinVar, GenCC	Platelet degranulation Nuclear signaling by ERBB4 ECM proteoglycans +1 more
OSTEOGENESIS IMPERFECTA TYPE 5	216828 MONDO:0012591	IFITM5	Causal	22863190 22863195 25046257	ClinVar, GWAS catalog, Orphanet	—
OSTEOGENESIS IMPERFECTA TYPE 6	MONDO:0013515	SERPINF1	Causal	21353196 21826736 23054245 23413146 23499310 23613367 25450603 28689307	ClinVar, Disgenet	Wnt signaling pathway
OSTEOGENESIS IMPERFECTA TYPE 7	MONDO:0012536	CRTAP	Causal	—	ClinVar, GenCC	Collagen biosynthesis and modifying enzymes
OSTEOGENESIS IMPERFECTA TYPE 8	MONDO:0012581	P3H1	Causal	19088120 17277775	ClinVar, GWAS catalog	Collagen biosynthesis and modifying enzymes
OSTEOGENESIS IMPERFECTA TYPE 9	MONDO:0009805	PPIB	Causal	19781681 19997487 20089953 21239989 21282188 22718341 24968150 27509835 28116328 28242392	ClinVar, GWAS catalog	Collagen biosynthesis and modifying enzymes
OSTEOGENESIS IMPERFECTA TYPE I		COL1A1	Causal	—	ClinVar	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +26 more
OSTEOGENESIS IMPERFECTA TYPE III	C0268362	COL1A1	Causal	—	Disgenet, ClinVar	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +26 more
		COL1A2	Causal	—	Disgenet, ClinVar	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +27 more
		FKBP10	Causal	—	Disgenet	—
		P3H1	Causal	—	Disgenet	Collagen biosynthesis and modifying enzymes
		SLC34A1	Causal	—	Disgenet	Parathyroid hormone synthesis, secretion and action Mineral absorption Type II Na+/Pi cotransporters +2 more
OSTEOGENESIS IMPERFECTA WITH NORMAL SCLERAE, DOMINANT FORM		COL1A1	Causal	—	ClinVar	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +26 more
OSTEOGENESIS IMPERFECTA WITH NORMAL SCLERAE, DOMINANT FORM		COL1A2	Causal	—	ClinVar	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +27 more
OSTEOGENESIS IMPERFECTA, IIA 22	MONDO:0030714	CCDC134	Causal	—	ClinVar, GenCC	—
OSTEOGENESIS IMPERFECTA, MILD	C4015953	COL1A2	Causal	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +27 more
OSTEOGENESIS IMPERFECTA, PERINATAL LETHAL		COL1A1	Causal	—	ClinVar	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +26 more
OSTEOGENESIS IMPERFECTA, PERINATAL LETHAL		COL1A2	Causal	—	ClinVar	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +27 more
OSTEOGENESIS IMPERFECTA, TYPE 18	MONDO:0044329	TENT5A	Causal	244574 26803617 29358272	ClinVar, GWAS catalog	—
OSTEOGENESIS IMPERFECTA, TYPE 19	MONDO:0049223	MBTPS2	Causal	27380894	ClinVar, Disgenet	Protein processing in endoplasmic reticulum Regulation of cholesterol biosynthesis by SREBP (SREBF) ATF6 (ATF6-alpha) activates chaperones +1 more
OSTEOGENESIS IMPERFECTA, TYPE 20	MONDO:0032846	MESD	Causal	31564437	ClinVar, Disgenet	—
OSTEOGENESIS IMPERFECTA, TYPE 21	MONDO:0030861	KDELR2	Causal	33053334	ClinVar, GWAS catalog	Vibrio cholerae infection COPI-mediated anterograde transport COPI-dependent Golgi-to-ER retrograde traffic
OSTEOGENESIS IMPERFECTA, TYPE 23	MONDO:0957988	PHLDB1	Causal	—	ClinVar	—

Osteogenesis imperfecta

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