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
		ADGRL1	Unknown	—	ClinGen	—
		AGO1	Unknown	—	ClinGen	Pre-NOTCH Transcription and Translation MicroRNA (miRNA) biogenesis Oxidative Stress Induced Senescence +15 more
		ANKS1B	Unknown	38129387 31388001	Open Targets	—
		AP1G1	Unknown	—	ClinGen	Lysosome Human immunodeficiency virus 1 infection Nef mediated downregulation of MHC class I complex cell surface expression +3 more
		AP2M1	Unknown	—	ClinGen	Endocytosis Synaptic vesicle cycle Endocrine and other factor-regulated calcium reabsorption +17 more
		BAZ2B	Unknown	—	ClinGen	ATP-dependent chromatin remodeling
		BHLHE22	Unknown	39502664	Open Targets	—
		BRSK2	Unknown	—	ClinGen	—
		CACNA1D	Unknown	—	ClinGen	MAPK signaling pathway Calcium signaling pathway cGMP-PKG signaling pathway +35 more
		CACNA2D2	Unknown	—	ClinGen	MAPK signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +8 more
		CACNG2	Unknown	—	ClinGen	MAPK signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +9 more
		CAMK2A	Unknown	—	ClinGen	ErbB signaling pathway Calcium signaling pathway cAMP signaling pathway +45 more
		CC2D1A	Unknown	—	ClinGen	—
		CHAMP1	Unknown	—	ClinGen	—
		CHD1	Unknown	—	ClinGen	Estrogen-dependent gene expression
		CHD8	Unknown	—	ClinGen	Wnt signaling pathway Deactivation of the beta-catenin transactivating complex
		CIC	Unknown	—	ClinGen	Spinocerebellar ataxia
		CNOT1	Unknown	—	ClinGen	RNA degradation Deadenylation of mRNA TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain
		CNOT3	Unknown	—	ClinGen	RNA degradation Deadenylation of mRNA TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain
		CNOT9	Unknown	—	ClinGen	RNA degradation Deadenylation of mRNA TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain
		CNTN2	Unknown	—	ClinGen	Cell adhesion molecules
		CNTNAP2	Unknown	—	ClinGen	Cell adhesion molecules
		CRNKL1	Unknown	40857589	Open Targets	Spliceosome mRNA Splicing - Major Pathway
		CSDE1	Unknown	—	ClinGen	—
		CSMD1	Unknown	38816421	Open Targets	—
		CYFIP2	Unknown	—	ClinGen	Regulation of actin cytoskeleton Pathogenic Escherichia coli infection Salmonella infection +4 more
		DDX23	Unknown	—	ClinGen	Spliceosome mRNA Splicing - Major Pathway mRNA Splicing - Minor Pathway
		DENND5B	Unknown	—	ClinGen	RAB GEFs exchange GTP for GDP on RABs
		DLG4	Unknown	—	ClinGen	Hippo signaling pathway Glutamatergic synapse Huntington disease +10 more
		DLGAP2	Unknown	—	ClinGen	—
		EIF3A	Unknown	41033306	Open Targets	L13a-mediated translational silencing of Ceruloplasmin expression Translation initiation complex formation Formation of a pool of free 40S subunits +3 more
		EPB41L1	Unknown	—	ClinGen	Trafficking of AMPA receptors Neurexins and neuroligins
		EXOC2	Unknown	—	ClinGen	Ras signaling pathway Salmonella infection Insulin processing +1 more
		EXOC7	Unknown	—	ClinGen	Insulin signaling pathway Salmonella infection Insulin processing +1 more
		GABBR2	Unknown	—	ClinGen	cAMP signaling pathway Neuroactive ligand-receptor interaction GABAergic synapse +9 more
		GABRA4	Unknown	38565639	Open Targets	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling GABAergic synapse +4 more
		GABRB2	Unknown	—	ClinGen	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling Serotonergic synapse +4 more
		GABRD	Unknown	—	ClinGen	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling GABAergic synapse +2 more

Complex neurodevelopmental disorder

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