Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
AMELOGENESIS IMPERFECTA	C0002452 MONDO:0019507 MESH:D000567	AMELX	Causal	—	Disgenet	Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Post-translational protein phosphorylation
		COL17A1	Causal	—	Disgenet, GenCC	Protein digestion and absorption Collagen biosynthesis and modifying enzymes Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell +3 more
		DLX3	Causal	—	Disgenet	—
		ENAM	Causal	15649948 17652207	CTD, Disgenet	Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Post-translational protein phosphorylation
		GPR68	Causal	—	Disgenet	Class A/1 (Rhodopsin-like receptors) G alpha (q) signalling events
		KLK4	Causal	—	Disgenet	—
		LAMB3	Causal	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +11 more
		LTBP3	Causal	25669657	CTD, Disgenet	Molecules associated with elastic fibres
		RELT	Causal	—	Disgenet	Cytokine-cytokine receptor interaction
		SLC24A4	Causal	—	Disgenet	Olfactory transduction Sodium/Calcium exchangers Defective SLC24A4 causes hypomineralized amelogenesis imperfecta (AI)
		SP6	Causal	—	Disgenet	—
		WDR72	Causal	18249014 19853237 21196691 25008349 25690803 26247047 30028003 33033857 34434372	ClinGen, Disgenet, GWAS catalog	—
		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 - HYPOPLASTIC AUTOSOMAL DOMINANT - LOCAL		ENAM	Causal	—	ClinVar	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 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 HYPOMATURATION TYPE 2A2	MONDO:0012926	MMP20	Causal	12393861 15557396 16246936 18096894 21597265 23625376	ClinVar, Disgenet	Collagen degradation Degradation of the extracellular matrix Assembly of collagen fibrils and other multimeric structures
AMELOGENESIS IMPERFECTA HYPOMATURATION TYPE 2A3	MONDO:0013181	WDR72	Causal	19853237 20938048 21597265 25008349	ClinVar, GWAS catalog	—
AMELOGENESIS IMPERFECTA HYPOMATURATION TYPE 2A4	MONDO:0013906	ODAPH	Causal	22901946 27558265	ClinVar, GWAS catalog	—
AMELOGENESIS IMPERFECTA HYPOMATURATION TYPE 2A5	MONDO:0014385	SLC24A4	Causal	23375655 24532815 24621671	CTD, ClinVar	Olfactory transduction Sodium/Calcium exchangers Defective SLC24A4 causes hypomineralized amelogenesis imperfecta (AI)
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 1A	MONDO:0007094	LAMB3	Causal	23632796 23958762 24494736 25769099	ClinVar, GenCC	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +11 more
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 1C	MONDO:0008770	ENAM	Causal	10463726 14684688 16246937 17125728 171778 19329462 20439930	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 TYPE 1E	MONDO:0010521	AMELX	Causal	—	ClinVar, 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 1F	MONDO:0014560	AMBN	Causal	15583034 19375505 24858907 25373699 26502894	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 TYPE 1G	MONDO:0008771	FAM20A	Causal	21549343	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 TYPE 1H	MONDO:0014540	ITGB6	Causal	23264742 24305999 24319098 25431241	ClinVar, Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +10 more
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 2A1	MONDO:0008772	KLK4	Causal	15235027 19578120 21597265 23355523 26124219	ClinVar, Disgenet	—
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, IIA6	617217 C4310665 MONDO:0014971 OMIM:617217	GPR68	Causal	12955148 27693231	CTD, ClinVar, Disgenet, GWAS catalog, HPO	Class A/1 (Rhodopsin-like receptors) G alpha (q) signalling events
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, IIA 1K	MONDO:0031084	SP6	Causal	18297738 32167558 33652941	ClinVar, Disgenet	—
AMELOGENESIS IMPERFECTA, TYPE 1J	MONDO:0015008	ACP4	Causal	—	ClinVar	—
AMELOGENESIS IMPERFECTA, TYPE 3A	MONDO:0007538	FAM83H	Causal	18252228 18484629 187230 19220331 19407157 21118793 21597265 22414746 26788537 30247735	ClinVar, GWAS catalog	—
		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 3C	MONDO:0032717	RELT	Causal	30506946	ClinVar, GWAS catalog	Cytokine-cytokine receptor interaction
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