Anophthalmia/microphthalmia-esophageal atresia syndrome | Gene-Disease Associations & Pathways | GeDiPNet

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Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
ANOPHTHALMIA-MICROPHTHALMIA SYNDROME	C5680330 MONDO:0020147ORPHA98555	OTX2	Causal	—	ClinVar, Disgenet	—
		PORCN	Causal	—	ClinVar	Wnt signaling pathway WNT ligand secretion is abrogated by the PORCN inhibitor LGK974
		PTCH1	Causal	—	Disgenet	cAMP signaling pathway Hedgehog signaling pathway Axon guidance +7 more
		STRA6	Causal	—	Disgenet	Retinoid cycle disease events The canonical retinoid cycle in rods (twilight vision)
		VSX2	Causal	—	Disgenet	—
		WNT7B	Causal	—	Disgenet	mTOR signaling pathway Wnt signaling pathway Hippo signaling pathway +13 more
		BMP4	Unknown	—	ClinVar	Cytokine-cytokine receptor interaction TGF-beta signaling pathway Hippo signaling pathway +8 more
		C14ORF39	Unknown	—	Disgenet	—
		CRYBA4	Unknown	—	ClinVar	—
		DACH1	Unknown	—	ClinVar	—
		ELP4	Unknown	—	Disgenet	—
		GATD3	Unknown	—	ClinVar	—
		HESX1	Unknown	—	ClinVar	Signaling pathways regulating pluripotency of stem cells
		IKBKG	Unknown	—	ClinVar	Antifolate resistance MAPK signaling pathway Ras signaling pathway +76 more
		NHS	Unknown	—	ClinVar	—
		PAX2	Unknown	—	ClinVar	—
		PAX6	Unknown	—	ClinVar, Disgenet	Signaling pathways regulating pluripotency of stem cells Maturity onset diabetes of the young Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1) +1 more
		PITX2	Unknown	—	ClinVar	TGF-beta signaling pathway TFAP2 (AP-2) family regulates transcription of other transcription factors
		PITX3	Unknown	—	ClinVar	—
		RAX	Unknown	—	ClinVar, Disgenet	—
		SIX3	Unknown	—	ClinVar	—
		SIX6	Unknown	—	Disgenet	—
		TFAP2A	Unknown	—	ClinVar	Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors Negative regulation of activity of TFAP2 (AP-2) family transcription factors TFAP2 (AP-2) family regulates transcription of other transcription factors +4 more
		VAX1	Unknown	—	ClinVar	—
ANOPHTHALMIA/MICROPHTHALMIA-ESOPHAGEAL ATRESIA SYNDROME	77298 MONDO:0008799	SOX2	Causal	16145681 21919124 16283891 19254784 18831064 21326281 15812812 12002146 15389708 16932809 12612584 16470798 15346919 16543359 17219395 24033328	CTD, ClinVar, Orphanet	Hippo signaling pathway Signaling pathways regulating pluripotency of stem cells POU5F1 (OCT4), SOX2, NANOG repress genes related to differentiation +4 more
ANOPHTHALMIA/MICROPHTHALMIA-ESOPHAGEAL ATRESIA SYNDROME	77298 MONDO:0008799	SIX6	Unknown	—	ClinVar	—