Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME	MESH:C536063 259770 2788 MONDO:0009820	ALPL	Unknown	—	CTD	Thiamine metabolism Folate biosynthesis Metabolic pathways +2 more
		AMBN	Unknown	—	CTD	Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Post-translational protein phosphorylation
		B3GALT6	Unknown	—	CTD	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate Glycosaminoglycan biosynthesis - heparan sulfate / heparin Metabolic pathways +2 more
		B3GAT3	Unknown	—	CTD	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate Glycosaminoglycan biosynthesis - heparan sulfate / heparin Metabolic pathways +2 more
		B4GALT7	Unknown	—	CTD	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate Glycosaminoglycan biosynthesis - heparan sulfate / heparin Metabolic pathways +2 more
		BMP1	Unknown	—	CTD	Degradation of the extracellular matrix Collagen biosynthesis and modifying enzymes Anchoring fibril formation +2 more
		CCDC134	Unknown	—	CTD	—
		CHST3	Unknown	—	CTD	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate Chondroitin sulfate biosynthesis Defective CHST3 causes SEDCJD
		COL1A1	Unknown	—	CTD	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +26 more
		COL1A2	Unknown	—	CTD	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +27 more
		COPB2	Unknown	—	CTD	COPI-mediated anterograde transport COPI-dependent Golgi-to-ER retrograde traffic
		CREB3L1	Unknown	—	CTD	cGMP-PKG signaling pathway cAMP signaling pathway PI3K-Akt signaling pathway +32 more
		CRTAP	Unknown	—	CTD	Collagen biosynthesis and modifying enzymes
		DSPP	Unknown	—	CTD	ECM-receptor interaction ECM proteoglycans
		EMILIN1	Unknown	—	CTD	Molecules associated with elastic fibres
		FKBP10	Unknown	—	CTD	—
		GORAB	Unknown	—	CTD	p53 signaling pathway
		IFITM5	Unknown	—	CTD	—
		KDELR2	Unknown	—	CTD	Vibrio cholerae infection COPI-mediated anterograde transport COPI-dependent Golgi-to-ER retrograde traffic
		KIF5B	Unknown	—	CTD	Endocytosis Dopaminergic synapse Motor proteins +12 more
		LIFR	Unknown	—	CTD	Cytokine-cytokine receptor interaction Signaling pathways regulating pluripotency of stem cells JAK-STAT signaling pathway +2 more
		LRP5	Unknown	11719191 20034086 15346351 16679074 16929062 17353424 17437160 18825883 16252235 21407258	CTD, Disgenet, HPO, Orphanet	mTOR signaling pathway Wnt signaling pathway Parathyroid hormone synthesis, secretion and action +11 more
		MBTPS2	Unknown	—	CTD	Protein processing in endoplasmic reticulum Regulation of cholesterol biosynthesis by SREBP (SREBF) ATF6 (ATF6-alpha) activates chaperones +1 more
		MESD	Unknown	—	CTD	—
		MIA3	Unknown	—	CTD	Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Cargo concentration in the ER Post-translational protein phosphorylation
		NBAS	Unknown	—	CTD	COPI-dependent Golgi-to-ER retrograde traffic
		P3H1	Unknown	—	CTD	Collagen biosynthesis and modifying enzymes
		P4HA1	Unknown	—	CTD	Arginine and proline metabolism Metabolic pathways Collagen biosynthesis and modifying enzymes
		P4HB	Unknown	—	CTD	Protein processing in endoplasmic reticulum Collagen biosynthesis and modifying enzymes Detoxification of Reactive Oxygen Species +7 more
		PHLDB1	Unknown	—	CTD	—
		PLOD2	Unknown	—	CTD	Lysine degradation Metabolic pathways Collagen biosynthesis and modifying enzymes
		PLOD3	Unknown	—	CTD	Lysine degradation Other types of O-glycan biosynthesis Metabolic pathways +1 more
		PLS3	Unknown	—	CTD	—
		PPIB	Unknown	—	CTD	Collagen biosynthesis and modifying enzymes
		SEC16B	Unknown	—	CTD	COPII-mediated vesicle transport
		SEC24D	Unknown	—	CTD	Protein processing in endoplasmic reticulum Pathogenic Escherichia coli infection COPII-mediated vesicle transport +3 more
		SERPINF1	Unknown	—	CTD	Wnt signaling pathway
		SERPINH1	Unknown	—	CTD	Collagen biosynthesis and modifying enzymes
		SGMS2	Unknown	—	CTD	Glycerophospholipid metabolism Sphingolipid metabolism Metabolic pathways +2 more
		SLC10A7	Unknown	—	CTD	—
		SP7	Unknown	—	CTD	—
		SPARC	Unknown	—	CTD	Platelet degranulation Nuclear signaling by ERBB4 ECM proteoglycans +1 more
		TAPT1	Unknown	—	CTD	—
		TENT5A	Unknown	—	CTD	—
		TMEM38B	Unknown	—	CTD	—
		WNT1	Unknown	—	CTD	mTOR signaling pathway Wnt signaling pathway Hippo signaling pathway +17 more
		WNT11	Unknown	—	CTD	mTOR signaling pathway Wnt signaling pathway Hippo signaling pathway +15 more
		XYLT1	Unknown	—	CTD	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate Glycosaminoglycan biosynthesis - heparan sulfate / heparin Metabolic pathways +1 more
		XYLT2	Unknown	—	CTD	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate Glycosaminoglycan biosynthesis - heparan sulfate / heparin Metabolic pathways +1 more

Osteoporosis-pseudoglioma syndrome

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