Pathways column key: KEGG Reactome

Disease Term	Gene Symbol	Classification	References	Source	Pathways
complex neurodevelopmental disorder	ANK2	Causal	25363768 30564305 33004838 31981491 33057194 30755392 22542183 28554332 27479843	ClinGen	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
	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
	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
	CSDE1	Unknown	—	ClinGen	—
	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	—
	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
	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
	GIGYF1	Unknown	—	ClinGen	—
	GNAI1	Unknown	—	ClinGen	Rap1 signaling pathway cGMP-PKG signaling pathway cAMP signaling pathway +47 more
	GNB2	Unknown	—	ClinGen	Ras signaling pathway Chemokine signaling pathway Hormone signaling +43 more
	GRIA1	Unknown	—	ClinGen	cAMP signaling pathway Neuroactive ligand-receptor interaction Circadian entrainment +18 more
	GRIK2	Unknown	—	ClinGen	Neuroactive ligand-receptor interaction Glutamatergic synapse Activation of Na-permeable kainate receptors +1 more
	GRIN1	Unknown	—	ClinGen	Ras signaling pathway Rap1 signaling pathway Calcium signaling pathway +20 more

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complex neurodevelopmental disorder

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