Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
DEVELOPMENTAL ABSENCE OF TOOTH	C0399352	BMP2	Unknown	—	Disgenet	Cytokine-cytokine receptor interaction TGF-beta signaling pathway Hippo signaling pathway +5 more
		BMP4	Unknown	—	Disgenet	Cytokine-cytokine receptor interaction TGF-beta signaling pathway Hippo signaling pathway +8 more
		DKK1	Unknown	—	Disgenet	Wnt signaling pathway Alzheimer disease Pathways of neurodegeneration - multiple diseases +2 more
		EDA	Unknown	—	Disgenet	Cytokine-cytokine receptor interaction NF-kappa B signaling pathway TNFs bind their physiological receptors
		GLI3	Unknown	—	Disgenet	cAMP signaling pathway Hedgehog signaling pathway Pathways in cancer +5 more
		GREM2	Unknown	—	Disgenet	TGF-beta signaling pathway Signaling by BMP
		IRX5	Unknown	—	Disgenet	—
		LRP6	Unknown	—	Disgenet	mTOR signaling pathway Wnt signaling pathway Parathyroid hormone synthesis, secretion and action +10 more
		LTBP3	Unknown	—	Disgenet	Molecules associated with elastic fibres
		MMP13	Unknown	—	Disgenet	IL-17 signaling pathway Relaxin signaling pathway Parathyroid hormone synthesis, secretion and action +5 more
		MMP9	Unknown	—	Disgenet	Endocrine resistance IL-17 signaling pathway TNF signaling pathway +22 more
		MSX1	Unknown	—	Disgenet	Human T-cell leukemia virus 1 infection
		PAX9	Unknown	—	Disgenet	—
		TSPEAR	Unknown	—	Disgenet	—
		WNT10A	Unknown	—	Disgenet	mTOR signaling pathway Wnt signaling pathway Hippo signaling pathway +13 more
		WNT10B	Unknown	—	Disgenet	mTOR signaling pathway Wnt signaling pathway Hippo signaling pathway +13 more
TOOTH AGENESIS	C4024202 MONDO:0005486 EFO_0005410	EDARADD	Causal	—	Disgenet, GenCC	NF-kappa B signaling pathway TNFs bind their physiological receptors
		LRP6	Causal	26387593 26963285 33164649 34285199	Disgenet, GWAS catalog	mTOR signaling pathway Wnt signaling pathway Parathyroid hormone synthesis, secretion and action +10 more
		AAK1	Unknown	—	Disgenet	Cargo recognition for clathrin-mediated endocytosis Clathrin-mediated endocytosis
		ANKRD30B	Unknown	—	Disgenet	—
		ARHGAP15	Unknown	29364747	GWAS catalog	Rho GTPase cycle
		AXIN2	Unknown	—	GenCC	Wnt signaling pathway Hippo signaling pathway Signaling pathways regulating pluripotency of stem cells +15 more
		BMP4	Unknown	—	Disgenet	Cytokine-cytokine receptor interaction TGF-beta signaling pathway Hippo signaling pathway +8 more
		CACNA1S	Unknown	29364747	GWAS catalog	MAPK signaling pathway Calcium signaling pathway cGMP-PKG signaling pathway +26 more
		CHCHD5	Unknown	36267138	GWAS catalog	—
		EDA	Unknown	29364747	GWAS catalog, GenCC	Cytokine-cytokine receptor interaction NF-kappa B signaling pathway TNFs bind their physiological receptors
		FGFR1	Unknown	—	GenCC	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +32 more
		FOXI3	Unknown	29364747	GWAS catalog	—
		FOXP1	Unknown	29364747	GWAS catalog	MicroRNAs in cancer Transcriptional regulation of pluripotent stem cells
		IRF6	Unknown	—	GenCC	Interferon gamma signaling Interferon alpha/beta signaling
		LIMS1	Unknown	34878701	GWAS catalog	Cell-extracellular matrix interactions Regulation of cytoskeletal remodeling and cell spreading by IPP complex components
		MSX1	Unknown	—	GenCC	Human T-cell leukemia virus 1 infection
		MSX2	Unknown	36267138	GWAS catalog	Human T-cell leukemia virus 1 infection
		NALF2	Unknown	29364747	GWAS catalog	—
		NOL11	Unknown	29364747	GWAS catalog	Major pathway of rRNA processing in the nucleolus and cytosol
		PAPOLG	Unknown	36267138	GWAS catalog	mRNA surveillance pathway
		PAX9	Unknown	—	GenCC	—
		RFX2	Unknown	—	Disgenet	—
		ROBO1	Unknown	36267138	GWAS catalog	Axon guidance Signaling by ROBO receptors Regulation of commissural axon pathfinding by SLIT and ROBO +3 more
		SEH1L	Unknown	—	Disgenet	Nucleocytoplasmic transport mTOR signaling pathway Amyotrophic lateral sclerosis +34 more
		SMAD2	Unknown	36267138	GWAS catalog	Cell cycle Endocytosis Cellular senescence +30 more
		TGFA	Unknown	—	GenCC	EGFR tyrosine kinase inhibitor resistance MAPK signaling pathway ErbB signaling pathway +31 more
		THSD7B	Unknown	24172245	GWAS catalog	Defective B3GALTL causes Peters-plus syndrome (PpS) O-glycosylation of TSR domain-containing proteins
		VPS54	Unknown	—	Disgenet	Retrograde transport at the Trans-Golgi-Network
		WNT10A	Unknown	29364747 34878701	Disgenet, GWAS catalog, GenCC	mTOR signaling pathway Wnt signaling pathway Hippo signaling pathway +13 more
		WNT10B	Unknown	27321946	GWAS catalog	mTOR signaling pathway Wnt signaling pathway Hippo signaling pathway +13 more
TOOTH AGENESIS, FAMILIAL	C3489529	AXIN2	Unknown	—	Disgenet	Wnt signaling pathway Hippo signaling pathway Signaling pathways regulating pluripotency of stem cells +15 more
		BMPR2	Unknown	—	Disgenet	Cytokine-cytokine receptor interaction TGF-beta signaling pathway Axon guidance +5 more
		MSX1	Unknown	—	Disgenet	Human T-cell leukemia virus 1 infection
TOOTH AGENESIS, SELECTIVE, 1	106600 MONDO:0007129	MSX1	Causal	10742093 12097313 15264286 16651263 22813217 33419968 7914451 8696335	ClinGen, ClinVar, Disgenet, HPO	Human T-cell leukemia virus 1 infection
TOOTH AGENESIS, SELECTIVE, 10	620173 C5774277 MONDO:0859339	TSPEAR	Causal	—	ClinVar, Disgenet, HPO	—
TOOTH AGENESIS, SELECTIVE, 2	C1865092	EDA	Causal	—	Disgenet	Cytokine-cytokine receptor interaction NF-kappa B signaling pathway TNFs bind their physiological receptors
		EVC2	Unknown	—	Disgenet	Hedgehog signaling pathway Hedgehog 'on' state Activation of SMO
		WNT10A	Unknown	—	Disgenet	mTOR signaling pathway Wnt signaling pathway Hippo signaling pathway +13 more
TOOTH AGENESIS, SELECTIVE, 3	604625 C1970291 MESH:C567036 MONDO:0011477	PAX9	Causal	—	CTD, ClinGen, ClinVar, Disgenet, GenCC, HPO	—
TOOTH AGENESIS, SELECTIVE, 4	150400 C1835492 MESH:C563634 MONDO:0007881	WNT10A	Causal	17847007 22581971 23991204 24043634 25629078	CTD, ClinVar, Disgenet, HPO, Orphanet	mTOR signaling pathway Wnt signaling pathway Hippo signaling pathway +13 more
TOOTH AGENESIS, SELECTIVE, 6	MESH:C567755	LTBP3	Unknown	—	CTD	Molecules associated with elastic fibres
TOOTH AGENESIS, SELECTIVE, 7	616724 C4225231 MONDO:0014749 OMIM:616724	LRP6	Causal	26387593	CTD, ClinVar, Disgenet, GWAS catalog, HPO	mTOR signaling pathway Wnt signaling pathway Parathyroid hormone synthesis, secretion and action +10 more
TOOTH AGENESIS, SELECTIVE, 8	617073 C4310730 MONDO:0014901 OMIM:617073	WNT10B	Causal	—	CTD, ClinVar, Disgenet, GenCC, HPO	mTOR signaling pathway Wnt signaling pathway Hippo signaling pathway +13 more
TOOTH AGENESIS, SELECTIVE, 9	617275 C4310638 MONDO:0014999 OMIM:617275	GREM2	Causal	15039429 19073177 24686385 26416033 28992378	CTD, ClinGen, ClinVar, Disgenet, HPO	TGF-beta signaling pathway Signaling by BMP
TOOTH AGENESIS, SELECTIVE, X-LINKED, 1	313500 C1970757 MESH:C567060 MONDO:0010741	EDA	Causal	17256800 18657636 16583127	CTD, ClinVar, Disgenet, HPO	Cytokine-cytokine receptor interaction NF-kappa B signaling pathway TNFs bind their physiological receptors

Tooth agenesis

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