Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
AMELOGENESIS IMPERFECTA	C0002452 MESH:D000567	ACP4	Unknown	—	Disgenet	—
		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
		ARHGAP6	Unknown	—	Disgenet	Rho GTPase cycle
		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
		FAM20C	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	18484629 19407157	CTD, Disgenet	—
		ITGB6	Unknown	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +10 more
		MMP20	Unknown	—	Disgenet	Collagen degradation Degradation of the extracellular matrix Assembly of collagen fibrils and other multimeric structures
		ODAPH	Unknown	—	Disgenet	—
AMELOGENESIS IMPERFECTA HYPOMATURATION TYPE	C0399372	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
		GPR68	Unknown	—	Disgenet	Class A/1 (Rhodopsin-like receptors) G alpha (q) signalling events
		KLK4	Unknown	—	Disgenet	—
		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	—
AMELOGENESIS IMPERFECTA LOCAL HYPOPLASTIC FORM	C0399367 MESH:C538240	ACP4	Unknown	—	Disgenet	—
		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
		COL7A1	Unknown	—	Disgenet	Protein digestion and absorption Collagen degradation Extracellular matrix organization +8 more
		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
		ITGB6	Unknown	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +10 more
		LAMB3	Unknown	—	CTD, Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +11 more
		LAMC2	Unknown	37228816 26956061	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +11 more
		RELT	Unknown	—	Disgenet	Cytokine-cytokine receptor interaction
		SP6	Unknown	—	Disgenet	—
AMELOGENESIS IMPERFECTA NEPHROCALCINOSIS	C2931783	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
AMELOGENESIS IMPERFECTA NEPHROCALCINOSIS	C2931783	PRKAR1A	Unknown	—	Disgenet	Insulin signaling pathway PKA activation PKA activation in glucagon signalling +7 more
AMELOGENESIS IMPERFECTA PIGMENTED HYPOMATURATION TYPE	MESH:C538242	KLK4	Unknown	—	CTD	—
AMELOGENESIS IMPERFECTA TYPE 1	MONDO:0015047	ACP4	Unknown	27843125	Disgenet	—
		AMBN	Unknown	24858907	GWAS catalog	Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Post-translational protein phosphorylation
		ENAM	Unknown	11978766 14684688	Disgenet	Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Post-translational protein phosphorylation
		ITGB6	Unknown	24305999	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +10 more
		LAMB3	Unknown	23632796	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +11 more
		RELT	Unknown	30506946	GWAS catalog	Cytokine-cytokine receptor interaction
AMELOGENESIS IMPERFECTA TYPE 1B	MONDO:0007092	ENAM	Unknown	—	GenCC	Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Post-translational protein phosphorylation
AMELOGENESIS IMPERFECTA TYPE 2	MONDO:0015048	AMELX	Unknown	23251683	GWAS catalog	Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Post-translational protein phosphorylation
		GPR68	Unknown	27693231	Orphanet	Class A/1 (Rhodopsin-like receptors) G alpha (q) signalling events
		KLK4	Unknown	21597265	GWAS catalog	—
		MMP20	Unknown	15744043	GWAS catalog	Collagen degradation Degradation of the extracellular matrix Assembly of collagen fibrils and other multimeric structures
		ODAPH	Unknown	22901946	GWAS catalog	—
		SLC24A4	Unknown	24621671	GWAS catalog	Olfactory transduction Sodium/Calcium exchangers Defective SLC24A4 causes hypomineralized amelogenesis imperfecta (AI)
		WDR72	Unknown	19853237	GWAS catalog	—
AMELOGENESIS IMPERFECTA TYPE 3B	MONDO:0021547	AMTN	Unknown	25715379 26620968 27412008	ClinVar, GWAS catalog	Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Post-translational protein phosphorylation
AMELOGENESIS IMPERFECTA, HYPOMATURATION HYPOPLASIA TYPE WITH TAURODONTISM	C0399373	DLX3	Unknown	—	Disgenet	—
AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA1	204700 C2673922	KLK4	Unknown	—	Disgenet, HPO	—
AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA2	612529 C2675858 MESH:C567279	MMP20	Unknown	—	CTD, Disgenet, HPO	Collagen degradation Degradation of the extracellular matrix Assembly of collagen fibrils and other multimeric structures
AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA3	613211 C2750771 MESH:C567706	WDR72	Unknown	—	CTD, Disgenet, HPO, ClinGen	—
AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA4	614832 C3553830 OMIM:614832	ODAPH	Unknown	—	CTD, Disgenet, HPO	—
AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA5	615887 C4014578 OMIM:615887	SLC24A4	Unknown	—	CTD, Disgenet, HPO	Olfactory transduction Sodium/Calcium exchangers Defective SLC24A4 causes hypomineralized amelogenesis imperfecta (AI)
AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, WITH SNOW-CAPPED TEETH	C1845053	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
	C1845053	ARHGAP6	Unknown	—	Disgenet	Rho GTPase cycle
AMELOGENESIS IMPERFECTA, HYPOPLASTIC-HYPOMATURATION, X-LINKED 1	MESH:C538243	AMELX	Unknown	—	CTD	Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Post-translational protein phosphorylation
AMELOGENESIS IMPERFECTA, TYPE 3A	MONDO:0007538	AMTN	Unknown	27412008	GWAS catalog	Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Post-translational protein phosphorylation
		ITGB6	Unknown	24319098	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +10 more
		SLC24A4	Unknown	23375655	CTD	Olfactory transduction Sodium/Calcium exchangers Defective SLC24A4 causes hypomineralized amelogenesis imperfecta (AI)
AMELOGENESIS IMPERFECTA, TYPE IA	C4011403 104530	COL17A1	Unknown	—	Disgenet	Protein digestion and absorption Collagen biosynthesis and modifying enzymes Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell +3 more
AMELOGENESIS IMPERFECTA, TYPE IA	C4011403 104530	LAMB3	Unknown	—	Disgenet, HPO	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +11 more
AMELOGENESIS IMPERFECTA, TYPE IB	C0399368 104500 MESH:C562879	COL17A1	Unknown	—	Disgenet	Protein digestion and absorption Collagen biosynthesis and modifying enzymes Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell +3 more
AMELOGENESIS IMPERFECTA, TYPE IB	C0399368 104500 MESH:C562879	ENAM	Unknown	—	CTD, Disgenet, HPO	Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Post-translational protein phosphorylation
AMELOGENESIS IMPERFECTA, TYPE IC	204650 C2673923 MESH:C567147	ENAM	Unknown	—	CTD, Disgenet, HPO	Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Post-translational protein phosphorylation
AMELOGENESIS IMPERFECTA, TYPE IE	301200	AMELX	Unknown	—	HPO	Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Post-translational protein phosphorylation
AMELOGENESIS IMPERFECTA, TYPE IF	616270 C4225394 OMIM:616270	AMBN	Unknown	—	CTD, Disgenet, HPO	Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Post-translational protein phosphorylation
AMELOGENESIS IMPERFECTA, TYPE IG	204690 OMIM:204690	FAM20A	Unknown	—	CTD, HPO	Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Post-translational protein phosphorylation
AMELOGENESIS IMPERFECTA, TYPE IH	616221 C4015557 OMIM:616221	ITGB6	Unknown	—	CTD, Disgenet, HPO	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +10 more
AMELOGENESIS IMPERFECTA, TYPE III	C0399376 MESH:C562880	AMTN	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	—	CTD, Disgenet	—
		ITGB6	Unknown	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +10 more
		SLC24A4	Unknown	—	Disgenet	Olfactory transduction Sodium/Calcium exchangers Defective SLC24A4 causes hypomineralized amelogenesis imperfecta (AI)
AMELOGENESIS IMPERFECTA, TYPE IIIA	C5886770 130900	AMTN	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, HPO	—
		ITGB6	Unknown	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +10 more
		SLC24A4	Unknown	23375655	Disgenet	Olfactory transduction Sodium/Calcium exchangers Defective SLC24A4 causes hypomineralized amelogenesis imperfecta (AI)
AMELOGENESIS IMPERFECTA, TYPE IIIB	617607 C4539891	AMTN	Unknown	27412008	Disgenet, HPO	Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Post-translational protein phosphorylation
AMELOGENESIS IMPERFECTA, TYPE IIIC	618386 C5193069	RELT	Unknown	—	Disgenet, HPO	Cytokine-cytokine receptor interaction
AMELOGENESIS IMPERFECTA, TYPE IJ	617297 C4310630 OMIM:617297	ACP4	Unknown	—	CTD, Disgenet, HPO	—
AMELOGENESIS IMPERFECTA, TYPE IK	620104 C5774246	SP6	Unknown	33652941 18156176 18297738 22676574 32167558	Disgenet, HPO	—
AMELOGENESIS IMPERFECTA, TYPE IV	104510 C1863012 MESH:C566293	DLX3	Unknown	—	CTD, Disgenet, HPO	—

Amelogenesis imperfecta

Bookmark This Disease