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	—
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 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 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 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 2A1	MONDO:0008772	KLK4	Causal	15235027 19578120 21597265 23355523 26124219	ClinVar, Disgenet	—
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, 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	—
AMELOGENESIS IMPERFECTA, TYPE 3C	MONDO:0032717	RELT	Causal	30506946	ClinVar, GWAS catalog	Cytokine-cytokine receptor interaction

Amelogenesis imperfecta

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