Pathways column key: KEGG Reactome

Disease Term	Gene Symbol	Classification	References	Source	Pathways
complex neurodevelopmental disorder	GRIN2A	Unknown	—	ClinGen	Ras signaling pathway Rap1 signaling pathway Calcium signaling pathway +19 more
complex neurodevelopmental disorder	GRIN2D	Unknown	—	ClinGen	Calcium signaling pathway cAMP signaling pathway Neuroactive ligand-receptor interaction +16 more
complex neurodevelopmental disorder	HCN2	Unknown	—	ClinGen	cAMP signaling pathway GnRH secretion HCN channels
complex neurodevelopmental disorder	HECW2	Unknown	—	ClinGen	Antigen processing: Ubiquitination & Proteasome degradation
complex neurodevelopmental disorder	HNRNPD	Unknown	—	ClinGen	AUF1 (hnRNP D0) binds and destabilizes mRNA mRNA Splicing - Major Pathway Processing of Capped Intron-Containing Pre-mRNA
complex neurodevelopmental disorder	HNRNPU	Unknown	—	ClinGen	Spliceosome mRNA Splicing - Major Pathway Processing of Capped Intron-Containing Pre-mRNA
complex neurodevelopmental disorder	IQSEC1	Unknown	—	ClinGen	Endocytosis
complex neurodevelopmental disorder	KCNB1	Unknown	—	ClinGen	Voltage gated Potassium channels Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
complex neurodevelopmental disorder	KCNC1	Unknown	—	ClinGen	Voltage gated Potassium channels
complex neurodevelopmental disorder	KCNQ3	Unknown	—	ClinGen	Cholinergic synapse Voltage gated Potassium channels
complex neurodevelopmental disorder	KCNT2	Unknown	—	ClinGen	—
complex neurodevelopmental disorder	KLHL20	Unknown	—	ClinGen	Neddylation Antigen processing: Ubiquitination & Proteasome degradation
complex neurodevelopmental disorder	KMT2E	Unknown	—	ClinGen	Lysine degradation Metabolic pathways PKMTs methylate histone lysines +1 more
complex neurodevelopmental disorder	KMT5B	Unknown	—	ClinGen	Lysine degradation Metabolic pathways PKMTs methylate histone lysines
complex neurodevelopmental disorder	KPTN	Unknown	—	ClinGen	Amino acids regulate mTORC1
complex neurodevelopmental disorder	LHX2	Unknown	—	ClinGen	—
complex neurodevelopmental disorder	LINS1	Unknown	—	ClinGen	—
complex neurodevelopmental disorder	MBD5	Unknown	—	ClinGen	Polycomb repressive complex UCH proteinases
complex neurodevelopmental disorder	MBOAT7	Unknown	—	ClinGen	Glycerophospholipid metabolism Acyl chain remodelling of PI
complex neurodevelopmental disorder	MED13	Unknown	—	ClinGen	Thyroid hormone signaling pathway PPARA activates gene expression Generic Transcription Pathway +1 more
complex neurodevelopmental disorder	MEF2C	Unknown	—	ClinGen	MAPK signaling pathway cGMP-PKG signaling pathway Apelin signaling pathway +7 more
complex neurodevelopmental disorder	NBEA	Unknown	—	ClinGen	—
complex neurodevelopmental disorder	NCKAP1	Unknown	—	ClinGen	Regulation of actin cytoskeleton Pathogenic Escherichia coli infection Salmonella infection +4 more
complex neurodevelopmental disorder	NOVA2	Unknown	—	ClinGen	—
complex neurodevelopmental disorder	NRXN1	Unknown	—	ClinGen	Cell adhesion molecules Neurexins and neuroligins
complex neurodevelopmental disorder	NRXN2	Unknown	—	ClinGen	Cell adhesion molecules Neurexins and neuroligins
complex neurodevelopmental disorder	NTNG1	Unknown	—	ClinGen	Axon guidance Cell adhesion molecules Post-translational modification: synthesis of GPI-anchored proteins
complex neurodevelopmental disorder	OTUD7A	Unknown	—	ClinGen	Ovarian tumor domain proteases
complex neurodevelopmental disorder	PHF12	Unknown	33057194 28135719 27479843 28263302	ClinGen	—
complex neurodevelopmental disorder	PHF21A	Unknown	—	ClinGen	HDACs deacetylate histones Factors involved in megakaryocyte development and platelet production
complex neurodevelopmental disorder	PIGA	Unknown	—	ClinGen	Glycosylphosphatidylinositol (GPI)-anchor biosynthesis Metabolic pathways Synthesis of glycosylphosphatidylinositol (GPI)
complex neurodevelopmental disorder	PIGO	Unknown	—	ClinGen	Glycosylphosphatidylinositol (GPI)-anchor biosynthesis Metabolic pathways
complex neurodevelopmental disorder	POU3F3	Unknown	—	ClinGen	—
complex neurodevelopmental disorder	PPP2CA	Unknown	—	ClinGen	mRNA surveillance pathway Sphingolipid signaling pathway Cell cycle +47 more
complex neurodevelopmental disorder	PPP2R1A	Unknown	—	ClinGen	mRNA surveillance pathway Sphingolipid signaling pathway Cell cycle +52 more
complex neurodevelopmental disorder	PPP2R5C	Unknown	—	ClinGen	mRNA surveillance pathway Sphingolipid signaling pathway Cell cycle +30 more
complex neurodevelopmental disorder	PPP2R5D	Unknown	—	ClinGen	mRNA surveillance pathway Sphingolipid signaling pathway Cell cycle +32 more
complex neurodevelopmental disorder	PRICKLE2	Unknown	—	ClinGen	Wnt signaling pathway
complex neurodevelopmental disorder	PURA	Unknown	—	ClinGen	—
complex neurodevelopmental disorder	RALA	Unknown	—	ClinGen	Ras signaling pathway Rap1 signaling pathway Phospholipase D signaling pathway +5 more
complex neurodevelopmental disorder	RFX3	Unknown	25844147 31981491 35982159 37717291 33658631 21792059 27525107	ClinGen	—
complex neurodevelopmental disorder	RFX7	Unknown	—	ClinGen	—
complex neurodevelopmental disorder	RHOBTB2	Unknown	—	ClinGen	Ubiquitin mediated proteolysis Rho GTPase cycle
complex neurodevelopmental disorder	RORB	Unknown	—	ClinGen	Circadian rhythm
complex neurodevelopmental disorder	RSRC1	Unknown	—	ClinGen	—
complex neurodevelopmental disorder	SATB1	Unknown	—	ClinGen	Apoptotic cleavage of cellular proteins SUMOylation of chromatin organization proteins
complex neurodevelopmental disorder	SETBP1	Unknown	—	ClinGen	—
complex neurodevelopmental disorder	SETD1B	Unknown	—	ClinGen	Lysine degradation Metabolic pathways PKMTs methylate histone lysines +1 more
complex neurodevelopmental disorder	SHANK1	Unknown	—	ClinGen	Glutamatergic synapse Neurexins and neuroligins
complex neurodevelopmental disorder	SHANK2	Unknown	—	ClinGen	Glutamatergic synapse Neurexins and neuroligins

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complex neurodevelopmental disorder

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