Dentinogenesis imperfecta | Gene-Disease Associations & Pathways | GeDiPNet

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Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
DENTINOGENESIS IMPERFECTA	C0011436 MESH:D003811 MONDO:0018849	COL1A2	Causal	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +27 more
		DSPP	Causal	11175790 12721295 15241678 15592686 15690376 17686168 18456718 23509818	CTD, ClinGen, Disgenet, GenCC	ECM-receptor interaction ECM proteoglycans
		AMBN	Unknown	—	Disgenet	Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Post-translational protein phosphorylation
		AMELX	Unknown	—	Disgenet	Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Post-translational protein phosphorylation
		COL1A1	Unknown	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +26 more
		DLX3	Unknown	—	Disgenet	—
		ENAM	Unknown	—	Disgenet	Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Post-translational protein phosphorylation
		FAM20A	Unknown	—	Disgenet	Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Post-translational protein phosphorylation
		FAM83H	Unknown	—	Disgenet	—
		ITGB6	Unknown	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +10 more
		KLK4	Unknown	—	Disgenet	—
		LAMB3	Unknown	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +11 more
		MMP20	Unknown	—	Disgenet	Collagen degradation Degradation of the extracellular matrix Assembly of collagen fibrils and other multimeric structures
		ODAPH	Unknown	—	Disgenet	—
		SLC24A4	Unknown	—	Disgenet	Olfactory transduction Sodium/Calcium exchangers Defective SLC24A4 causes hypomineralized amelogenesis imperfecta (AI)
		WDR72	Unknown	—	Disgenet	—
DENTINOGENESIS IMPERFECTA - SHIELDS TYPE III	C0399378	DSPP	Unknown	—	Disgenet	ECM-receptor interaction ECM proteoglycans
DENTINOGENESIS IMPERFECTA 1	125490	DSPP	Unknown	—	HPO	ECM-receptor interaction ECM proteoglycans
DENTINOGENESIS IMPERFECTA TYPE 2	166260 MONDO:0007441	DSPP	Causal	18456718 11175790 14758537 11175779	ClinVar, GWAS catalog, Orphanet	ECM-receptor interaction ECM proteoglycans
DENTINOGENESIS IMPERFECTA TYPE 3	166265 MONDO:0007442	DSPP	Causal	11175779 11175790 12721295 15592686 20949630 21736673 22310900 25118030 30302137 30393383	ClinVar, GWAS catalog, Orphanet	ECM-receptor interaction ECM proteoglycans
DENTINOGENESIS IMPERFECTA WITHOUT OSTEOGENESIS IMPERFECTA	C2973527	DSPP	Unknown	—	Disgenet	ECM-receptor interaction ECM proteoglycans
DENTINOGENESIS IMPERFECTA, SHIELDS TYPE 3	MESH:C538216	DSPP	Unknown	—	CTD	ECM-receptor interaction ECM proteoglycans
DENTINOGENESIS IMPERFECTA, SHIELDS TYPE III	125500	DSPP	Unknown	—	HPO, ClinGen	ECM-receptor interaction ECM proteoglycans