Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
COL1A2-RELATED OSTEOGENESIS IMPERFECTA	MONDO:0100596	COL1A2	Unknown	11836364 1301191 18375391 19594296 22795120 2897363 30579604 32482890 34306033 35052464 8081394 8257992 8446583 8786074 9923651	ClinGen, GWAS catalog	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +27 more
OSTEOGENESIS IMPERFECTA	C0029434 MONDO:0019019 MESH:D010013	CCDC134	Unknown	—	Disgenet, GenCC	—
		IFITM5	Unknown	—	Disgenet	—
		KDELR2	Unknown	33053334	Disgenet, GWAS catalog	Vibrio cholerae infection COPI-mediated anterograde transport COPI-dependent Golgi-to-ER retrograde traffic
		MBTPS2	Unknown	27380894	CTD, Disgenet	Protein processing in endoplasmic reticulum Regulation of cholesterol biosynthesis by SREBP (SREBF) ATF6 (ATF6-alpha) activates chaperones +1 more
		PGGHG	Unknown	—	Disgenet	—
		PHLDB1	Unknown	—	Disgenet	—
		PLS3	Unknown	—	Disgenet	—
		SERPINH1	Unknown	—	Disgenet	Collagen biosynthesis and modifying enzymes
		SFTPC	Unknown	—	Disgenet	Surfactant metabolism Defective pro-SFTPC causes pulmonary surfactant metabolism dysfunction 2 (SMDP2) and respiratory distress syndrome (RDS) Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5) +1 more
		SNX22	Unknown	—	Disgenet	—
		SP7	Unknown	—	Disgenet	—
		SPARC	Unknown	1793673	CTD, Disgenet	Platelet degranulation Nuclear signaling by ERBB4 ECM proteoglycans +1 more
		SUCO	Unknown	20440000 29620724	GWAS catalog	—
		TENT5A	Unknown	29358272	Disgenet, GWAS catalog	—
		XYLT2	Unknown	—	Disgenet	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate Glycosaminoglycan biosynthesis - heparan sulfate / heparin Metabolic pathways +1 more
OSTEOGENESIS IMPERFECTA TYPE 1	216796 MONDO:0008146	COL1A1	Unknown	20301472 21438135 2295701 26634493 28901398 31369917 31653500 32165296 7942841 8808594	GWAS catalog, Orphanet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +26 more
		COL1A2	Unknown	15241796 19594296 20301472 2052622 21438135 21667357 32482890 35052464 35154279 8786074 8829649	GWAS catalog, Orphanet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +27 more
		MBTPS2	Unknown	27380894	Orphanet	Protein processing in endoplasmic reticulum Regulation of cholesterol biosynthesis by SREBP (SREBF) ATF6 (ATF6-alpha) activates chaperones +1 more
		P4HB	Unknown	30913006 30948499	GWAS catalog, Orphanet	Protein processing in endoplasmic reticulum Collagen biosynthesis and modifying enzymes Detoxification of Reactive Oxygen Species +7 more
		SEC24D	Unknown	25683121	Orphanet	Protein processing in endoplasmic reticulum Pathogenic Escherichia coli infection COPII-mediated vesicle transport +3 more
OSTEOGENESIS IMPERFECTA TYPE 2	216804 MONDO:0008147	COL1A1	Unknown	11668615 20301472 21438135 21834035 22795119 2450280 25289482 25958000 3016737 3108247 7487936 7679635 8100209	GWAS catalog, Orphanet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +26 more
		COL1A2	Unknown	18996919 20301472 21438135	GWAS catalog, Orphanet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +27 more
		CRTAP	Unknown	21438135	GWAS catalog, Orphanet	Collagen biosynthesis and modifying enzymes
		MESD	Unknown	31564437 33596325	Disgenet, Orphanet	—
		P3H1	Unknown	21438135	GWAS catalog, Orphanet	Collagen biosynthesis and modifying enzymes
		PPIB	Unknown	21438135	Disgenet, Orphanet	Collagen biosynthesis and modifying enzymes
OSTEOGENESIS IMPERFECTA TYPE 3	216812 MONDO:0009804	BMP1	Unknown	22052668	GWAS catalog, Orphanet	Degradation of the extracellular matrix Collagen biosynthesis and modifying enzymes Anchoring fibril formation +2 more
		COL1A1	Unknown	11286507 11317364 12870654 20301472 2037280 21438135 2511192 25633413 2794057	GWAS catalog, Orphanet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +26 more
		COL1A2	Unknown	10408781 10807697 19208385 20301472 21438135 24668929 34306033 7860070 8081394 8446583 8950681	GWAS catalog, Orphanet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +27 more
		CREB3L1	Unknown	24079343	Disgenet, Orphanet	cGMP-PKG signaling pathway cAMP signaling pathway PI3K-Akt signaling pathway +32 more
		CRTAP	Unknown	21438135	GWAS catalog, Orphanet	Collagen biosynthesis and modifying enzymes
		FKBP10	Unknown	21438135 25046257	GWAS catalog, Orphanet	—
		MBTPS2	Unknown	27380894	Orphanet	Protein processing in endoplasmic reticulum Regulation of cholesterol biosynthesis by SREBP (SREBF) ATF6 (ATF6-alpha) activates chaperones +1 more
		P3H1	Unknown	21438135	GWAS catalog, Orphanet	Collagen biosynthesis and modifying enzymes
		PPIB	Unknown	21438135	Disgenet, Orphanet	Collagen biosynthesis and modifying enzymes
		SERPINF1	Unknown	21353196 25046257	GWAS catalog, Orphanet	Wnt signaling pathway
		SERPINH1	Unknown	21438135	GWAS catalog, Orphanet	Collagen biosynthesis and modifying enzymes
		TENT5A	Unknown	29358272	Orphanet	—
		WNT1	Unknown	23499310 25046257	GenCC, Orphanet	mTOR signaling pathway Wnt signaling pathway Hippo signaling pathway +17 more
OSTEOGENESIS IMPERFECTA TYPE 4	216820 MONDO:0008148	COL1A1	Unknown	20301472 21438135 9295084 3082886 18409203 2295701 1988452 15728585 1737847 9067755 15024692 8757037 8408653 1634225 8786074 8723681 11286507 2511192 8910493 8456809 7789952 1770532 21834035 8364588 2037280 3403550 2794057 89506	GWAS catalog, Orphanet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +26 more
		COL1A2	Unknown	11836364 18375391 20301472 2064612 21438135 28904723 2897363 30579604 8257992 8401517 8786065 9268111	GWAS catalog, Orphanet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +27 more
		CRTAP	Unknown	21438135	GWAS catalog, Orphanet	Collagen biosynthesis and modifying enzymes
		FKBP10	Unknown	21438135 25046257	GWAS catalog, Orphanet	—
		MBTPS2	Unknown	27380894	Orphanet	Protein processing in endoplasmic reticulum Regulation of cholesterol biosynthesis by SREBP (SREBF) ATF6 (ATF6-alpha) activates chaperones +1 more
		PPIB	Unknown	21282188	Disgenet, Orphanet	Collagen biosynthesis and modifying enzymes
		SERPINF1	Unknown	25046257	CTD, Orphanet	Wnt signaling pathway
		SP7	Unknown	21438135	GWAS catalog, Orphanet	—
		SPARC	Unknown	26027498	GWAS catalog, Orphanet	Platelet degranulation Nuclear signaling by ERBB4 ECM proteoglycans +1 more
		TMEM38B	Unknown	23313006 25046257	Disgenet, Orphanet	—
		WNT1	Unknown	23434763 25046257	GWAS catalog, Orphanet	mTOR signaling pathway Wnt signaling pathway Hippo signaling pathway +17 more
OSTEOGENESIS IMPERFECTA TYPE III	C0268362	BMP1	Unknown	—	Disgenet	Degradation of the extracellular matrix Collagen biosynthesis and modifying enzymes Anchoring fibril formation +2 more
		COL11A1	Unknown	—	Disgenet	Cytoskeleton in muscle cells Protein digestion and absorption Collagen degradation +5 more
		COL5A2	Unknown	—	Disgenet	Cytoskeleton in muscle cells Protein digestion and absorption Collagen degradation +10 more
		CREB3L1	Unknown	—	Disgenet	cGMP-PKG signaling pathway cAMP signaling pathway PI3K-Akt signaling pathway +32 more
		CRTAP	Unknown	—	Disgenet	Collagen biosynthesis and modifying enzymes
		MBTPS2	Unknown	—	Disgenet	Protein processing in endoplasmic reticulum Regulation of cholesterol biosynthesis by SREBP (SREBF) ATF6 (ATF6-alpha) activates chaperones +1 more
		PPIB	Unknown	—	Disgenet	Collagen biosynthesis and modifying enzymes
		SERPINF1	Unknown	—	Disgenet	Wnt signaling pathway
		SERPINH1	Unknown	—	Disgenet	Collagen biosynthesis and modifying enzymes
		TENT5A	Unknown	—	Disgenet	—
		WNT1	Unknown	—	Disgenet	mTOR signaling pathway Wnt signaling pathway Hippo signaling pathway +17 more
OSTEOGENESIS IMPERFECTA TYPE IV	C0268363	COL1A1	Unknown	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +26 more
		COL1A2	Unknown	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +27 more
		CRTAP	Unknown	—	Disgenet	Collagen biosynthesis and modifying enzymes
		FKBP10	Unknown	—	Disgenet	—
		MBTPS2	Unknown	—	Disgenet	Protein processing in endoplasmic reticulum Regulation of cholesterol biosynthesis by SREBP (SREBF) ATF6 (ATF6-alpha) activates chaperones +1 more
		PPIB	Unknown	—	Disgenet	Collagen biosynthesis and modifying enzymes
		SERPINF1	Unknown	—	Disgenet	Wnt signaling pathway
		SP7	Unknown	—	Disgenet	—
		SPARC	Unknown	—	Disgenet	Platelet degranulation Nuclear signaling by ERBB4 ECM proteoglycans +1 more
		TMEM38B	Unknown	—	Disgenet	—
		WNT1	Unknown	—	Disgenet	mTOR signaling pathway Wnt signaling pathway Hippo signaling pathway +17 more
OSTEOGENESIS IMPERFECTA TYPE VII	C1853162 MESH:C565200	CRTAP	Unknown	—	CTD, Disgenet	Collagen biosynthesis and modifying enzymes
OSTEOGENESIS IMPERFECTA TYPE XIX	C4746956	MBTPS2	Unknown	—	Disgenet	Protein processing in endoplasmic reticulum Regulation of cholesterol biosynthesis by SREBP (SREBF) ATF6 (ATF6-alpha) activates chaperones +1 more
OSTEOGENESIS IMPERFECTA TYPE XIX	C4746956	YY2	Unknown	—	Disgenet	ATP-dependent chromatin remodeling Polycomb repressive complex
OSTEOGENESIS IMPERFECTA, DOMINANT PERINATAL LETHAL	C0268358	COL1A1	Unknown	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +26 more
		COL1A2	Unknown	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +27 more
		CRTAP	Unknown	—	Disgenet	Collagen biosynthesis and modifying enzymes
		MESD	Unknown	—	Disgenet	—
		P3H1	Unknown	—	Disgenet	Collagen biosynthesis and modifying enzymes
		PPIB	Unknown	—	Disgenet	Collagen biosynthesis and modifying enzymes
OSTEOGENESIS IMPERFECTA, LEVIN TYPE	C1833736	ANO5	Unknown	—	Disgenet	Efferocytosis Stimuli-sensing channels
OSTEOGENESIS IMPERFECTA, TYPE 2A	MESH:C536042	COL1A1	Unknown	—	CTD	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +26 more
OSTEOGENESIS IMPERFECTA, TYPE 2A	MESH:C536042	COL1A2	Unknown	—	CTD	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +27 more
OSTEOGENESIS IMPERFECTA, TYPE 3	MESH:C536044	COL1A1	Unknown	—	CTD	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +26 more
OSTEOGENESIS IMPERFECTA, TYPE 3	MESH:C536044	COL1A2	Unknown	—	CTD	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +27 more
OSTEOGENESIS IMPERFECTA, TYPE 6	MESH:C536047	SERPINF1	Unknown	—	CTD	Wnt signaling pathway
OSTEOGENESIS IMPERFECTA, TYPE I	166200	COL1A1	Unknown	—	HPO	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +26 more
OSTEOGENESIS IMPERFECTA, TYPE II	166210	COL1A1	Unknown	—	HPO	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +26 more
OSTEOGENESIS IMPERFECTA, TYPE II	166210	COL1A2	Unknown	—	HPO	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +27 more
OSTEOGENESIS IMPERFECTA, TYPE III	259420	COL1A1	Unknown	—	HPO	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +26 more
OSTEOGENESIS IMPERFECTA, TYPE III	259420	COL1A2	Unknown	—	HPO	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +27 more
OSTEOGENESIS IMPERFECTA, TYPE IV	166220 MESH:C000631847	COL1A1	Unknown	—	CTD, HPO, ClinGen	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +26 more
OSTEOGENESIS IMPERFECTA, TYPE IV	166220 MESH:C000631847	COL1A2	Unknown	2897363	CTD, HPO	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +27 more
OSTEOGENESIS IMPERFECTA, TYPE IX	259440 C1850169 MESH:C564921	PPIB	Unknown	—	CTD, Disgenet, HPO	Collagen biosynthesis and modifying enzymes
OSTEOGENESIS IMPERFECTA, TYPE IX	259440 C1850169 MESH:C564921	SNX22	Unknown	—	Disgenet	—
OSTEOGENESIS IMPERFECTA, TYPE V	610967 C2931093 MESH:C567042	IFITM5	Unknown	22863190 22863195	CTD, Disgenet, HPO	—
OSTEOGENESIS IMPERFECTA, TYPE V	610967 C2931093 MESH:C567042	PGGHG	Unknown	—	Disgenet	—
OSTEOGENESIS IMPERFECTA, TYPE VI	613982 C3279564	SERPINF1	Unknown	23054245 21353196	Disgenet, HPO	Wnt signaling pathway
OSTEOGENESIS IMPERFECTA, TYPE VII	610682	CRTAP	Unknown	—	HPO	Collagen biosynthesis and modifying enzymes
OSTEOGENESIS IMPERFECTA, TYPE VIII	610915 C1970458 MESH:C536049	P3H1	Unknown	17277775 19088120	CTD, Disgenet, HPO	Collagen biosynthesis and modifying enzymes
OSTEOGENESIS IMPERFECTA, TYPE X	613848 C3151211 OMIM:613848	SERPINH1	Unknown	—	CTD, Disgenet, HPO	Collagen biosynthesis and modifying enzymes
OSTEOGENESIS IMPERFECTA, TYPE XI	610968 C3151218 OMIM:610968	FKBP10	Unknown	—	CTD, Disgenet, HPO	—
OSTEOGENESIS IMPERFECTA, TYPE XII	C3151433 613849 OMIM:613849	FKBP10	Unknown	—	Disgenet	—
OSTEOGENESIS IMPERFECTA, TYPE XII	C3151433 613849 OMIM:613849	SP7	Unknown	—	CTD, Disgenet, HPO	—
OSTEOGENESIS IMPERFECTA, TYPE XIII	614856 C3553887 OMIM:614856	BMP1	Unknown	—	CTD, Disgenet, HPO	Degradation of the extracellular matrix Collagen biosynthesis and modifying enzymes Anchoring fibril formation +2 more
OSTEOGENESIS IMPERFECTA, TYPE XIV	615066 C3554428 OMIM:615066	TMEM38B	Unknown	—	CTD, Disgenet, HPO	—
OSTEOGENESIS IMPERFECTA, TYPE XIX	301014	MBTPS2	Unknown	—	HPO	Protein processing in endoplasmic reticulum Regulation of cholesterol biosynthesis by SREBP (SREBF) ATF6 (ATF6-alpha) activates chaperones +1 more
OSTEOGENESIS IMPERFECTA, TYPE XV	C3808844 615220 OMIM:615220	GBE1	Unknown	—	Disgenet	Starch and sucrose metabolism Metabolic pathways Glycogen synthesis +1 more
OSTEOGENESIS IMPERFECTA, TYPE XV	C3808844 615220 OMIM:615220	WNT1	Unknown	23499309	CTD, Disgenet, HPO	mTOR signaling pathway Wnt signaling pathway Hippo signaling pathway +17 more
OSTEOGENESIS IMPERFECTA, TYPE XVI	616229 C4015610	CREB3L1	Unknown	—	Disgenet, HPO	cGMP-PKG signaling pathway cAMP signaling pathway PI3K-Akt signaling pathway +32 more
OSTEOGENESIS IMPERFECTA, TYPE XVII	616507 C4225301 OMIM:616507	SPARC	Unknown	26027498	CTD, Disgenet, HPO	Platelet degranulation Nuclear signaling by ERBB4 ECM proteoglycans +1 more
OSTEOGENESIS IMPERFECTA, TYPE XVIII	617952 C4693736	TENT5A	Unknown	—	Disgenet, HPO	—
OSTEOGENESIS IMPERFECTA, TYPE XX	618644 C5231439	MESD	Unknown	31564437	Disgenet, HPO	—
OSTEOGENESIS IMPERFECTA, TYPE XXI	619131 C5436875	KDELR2	Unknown	33053334	Disgenet, HPO	Vibrio cholerae infection COPI-mediated anterograde transport COPI-dependent Golgi-to-ER retrograde traffic
OSTEOGENESIS IMPERFECTA, TYPE XXII	619795 C5676943	CCDC134	Unknown	—	Disgenet, HPO	—
OSTEOGENESIS IMPERFECTA, TYPE XXIII	620639 C5882757	PHLDB1	Unknown	—	Disgenet, HPO	—

Osteogenesis imperfecta

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