Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
OROFACIAL CLEFT	C3266076 MONDO_0000358 MONDO:0000358	GDF11	Causal	—	Disgenet	Cytokine-cytokine receptor interaction
		LRP6	Causal	—	Disgenet	mTOR signaling pathway Wnt signaling pathway Parathyroid hormone synthesis, secretion and action +10 more
		PPP1R13L	Causal	—	Disgenet	NF-kappa B signaling pathway p53 signaling pathway Regulation of TP53 Activity through Association with Co-factors
		ABCA4	Unknown	22863734 27033726 28054174	GWAS catalog	ABC transporters Retinoid cycle disease events The canonical retinoid cycle in rods (twilight vision) +1 more
		ACOT12	Unknown	22863734	GWAS catalog	Pyruvate metabolism Metabolic pathways Mitochondrial Fatty Acid Beta-Oxidation
		ACSS2	Unknown	—	Disgenet	Glycolysis / Gluconeogenesis Pyruvate metabolism Glyoxylate and dicarboxylate metabolism +5 more
		ADGRF1	Unknown	27033726	GWAS catalog	—
		ADTRP	Unknown	21618603	GWAS catalog	—
		AGAP1	Unknown	34689653	GWAS catalog	Endocytosis
		AMBP	Unknown	34689653	GWAS catalog	Scavenging of heme from plasma
		AMOTL1	Unknown	34689653	Disgenet, GWAS catalog, GenCC	Tight junction Signaling by Hippo
		ANKDD1B	Unknown	34689653	GWAS catalog	—
		ANKFN1	Unknown	20023658	GWAS catalog	—
		ARHGAP29	Unknown	23008150 25512736 25704602 27350171 28029220 28817352 32698641	ClinGen, Disgenet, Orphanet	Adherens junction Rho GTPase cycle
		ARHGAP8	Unknown	22863734	GWAS catalog	Rho GTPase cycle
		ARHGEF18	Unknown	41075272	GWAS catalog	Tight junction NRAGE signals death through JNK Rho GTPase cycle +2 more
		ASCL2	Unknown	34689653	GWAS catalog	—
		ATXN3	Unknown	22419666	GWAS catalog	Protein processing in endoplasmic reticulum Spinocerebellar ataxia Pathways of neurodegeneration - multiple diseases +2 more
		AURKB	Unknown	27033726	GWAS catalog	Polycomb repressive complex Cell cycle Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal +8 more
		AXIN2	Unknown	—	Disgenet	Wnt signaling pathway Hippo signaling pathway Signaling pathways regulating pluripotency of stem cells +15 more
		BCAS3	Unknown	34689653	GWAS catalog	—
		BCL11B	Unknown	34689653	GWAS catalog	Transcriptional misregulation in cancer
		BEST3	Unknown	22863734	GWAS catalog	Stimuli-sensing channels
		BMP4	Unknown	—	Disgenet	Cytokine-cytokine receptor interaction TGF-beta signaling pathway Hippo signaling pathway +8 more
		BMP6	Unknown	22419666	GWAS catalog	Cytokine-cytokine receptor interaction TGF-beta signaling pathway Hippo signaling pathway +1 more
		C11ORF21	Unknown	34689653	GWAS catalog	—
		C17ORF67	Unknown	20023658 22863734 27033726	GWAS catalog	—
		CACNG3	Unknown	35223824	GWAS catalog	MAPK signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +8 more
		CADM1	Unknown	22863734	GWAS catalog	Cell adhesion molecules Adherens junctions interactions Nectin/Necl trans heterodimerization
		CDH13	Unknown	34689653	GWAS catalog	Adherens junctions interactions
		CGGBP1	Unknown	34689653	GWAS catalog	—
		CHPT1	Unknown	33137956	GWAS catalog	Phosphonate and phosphinate metabolism Glycerophospholipid metabolism Ether lipid metabolism +3 more
		CHRNA7	Unknown	34689653	GWAS catalog	Calcium signaling pathway Neuroactive ligand-receptor interaction Cholinergic synapse +5 more
		CMSS1	Unknown	22863734	GWAS catalog	—
		COL12A1	Unknown	34689653	GWAS catalog	Protein digestion and absorption Collagen degradation Collagen biosynthesis and modifying enzymes +2 more
		CYRIA	Unknown	22863734 28054174 33137956 41075272	GWAS catalog	Regulation of actin cytoskeleton
		DCAF4L2	Unknown	22863734 28054174 33137956 41075272	GWAS catalog	—
		EEF1E1	Unknown	41075272	GWAS catalog	Cytosolic tRNA aminoacylation
		EPHA3	Unknown	22863734	GWAS catalog	Axon guidance EPH-Ephrin signaling EPHA-mediated growth cone collapse +1 more
		ETS1	Unknown	34689653	GWAS catalog	Ras signaling pathway Cellular senescence Human T-cell leukemia virus 1 infection +3 more
		EXPH5	Unknown	34689653	GWAS catalog	—
		FHIT	Unknown	22419666	GWAS catalog	Purine metabolism Metabolic pathways Small cell lung cancer +1 more
		FILIP1L	Unknown	22863734	GWAS catalog	—
		FLNA	Unknown	—	Disgenet	MAPK signaling pathway Focal adhesion Salmonella infection +6 more
		FMN1	Unknown	20023658 22863734 41075272	GWAS catalog	—
		FOXE1	Unknown	28054174 33137956	GWAS catalog	—
		FST	Unknown	—	Disgenet	TGF-beta signaling pathway Antagonism of Activin by Follistatin
		IRF6	Unknown	19270707 22863734 27033726 28054174	GWAS catalog	Interferon gamma signaling Interferon alpha/beta signaling
		MAFB	Unknown	22863734 28054174 41075272	GWAS catalog	Parathyroid hormone synthesis, secretion and action
		TP63	Unknown	28054174 41075272	GWAS catalog	MicroRNAs in cancer Activation of PUMA and translocation to mitochondria TP53 Regulates Metabolic Genes +5 more
OROFACIAL CLEFT 1	C1861537	MAFB	Causal	—	Disgenet	Parathyroid hormone synthesis, secretion and action
OROFACIAL CLEFT 10	C1866070	IRF6	Unknown	—	Disgenet	Interferon gamma signaling Interferon alpha/beta signaling
OROFACIAL CLEFT 11	600625 C2677434 MESH:C567410 MONDO:0010906	BMP4	Causal	19249007 21340693	CTD, ClinVar, Disgenet, GWAS catalog, HPO	Cytokine-cytokine receptor interaction TGF-beta signaling pathway Hippo signaling pathway +8 more
OROFACIAL CLEFT 6, SUSCEPTIBILITY TO	MONDO:0012141 OMIM:608864	IRF6	Causal	28361103	CTD, ClinVar, GWAS catalog	Interferon gamma signaling Interferon alpha/beta signaling
OROFACIAL CLEFT 8	618149 C1851878 MONDO:0029145	TP63	Causal	—	ClinVar, Disgenet, HPO	MicroRNAs in cancer Activation of PUMA and translocation to mitochondria TP53 Regulates Metabolic Genes +5 more

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Orofacial cleft

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