Complex neurodevelopmental disorder | Gene-Disease Associations & Pathways | GeDiPNet

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Subtype of: Neurodevelopmental disorder

Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
complex neurodevelopmental disorder	MONDO_0100038 MONDO:0100038	ANK2	Causal	25363768 30564305 33004838 31981491 33057194 30755392 22542183 28554332 27479843	ClinGen, Open Targets	Cytoskeleton in muscle cells Proteoglycans in cancer Interaction between L1 and Ankyrins +1 more
		CHD2	Causal	—	ClinGen	—
		CUL3	Causal	—	ClinGen	Ubiquitin mediated proteolysis Hedgehog signaling pathway Degradation of DVL +4 more
		DYRK1A	Causal	—	ClinGen	G0 and Early G1
		EEF1A2	Causal	—	ClinGen	Nucleocytoplasmic transport Legionellosis Leishmaniasis
		GRIN2B	Causal	—	ClinGen	Ras signaling pathway Rap1 signaling pathway Calcium signaling pathway +22 more
		KCNQ2	Causal	—	ClinGen	Cholinergic synapse Voltage gated Potassium channels
		NR4A2	Causal	—	ClinGen	Aldosterone synthesis and secretion Parathyroid hormone synthesis, secretion and action Nuclear Receptor transcription pathway
		SCAF4	Causal	—	ClinGen	—
		SCN2A	Causal	—	ClinGen	Taste transduction Phase 0 - rapid depolarisation
		SCN8A	Causal	—	ClinGen	Phase 0 - rapid depolarisation
		SYNGAP1	Causal	—	ClinGen	Ras signaling pathway Regulation of RAS by GAPs