Pathways column key: KEGG Reactome

Disease Term	Gene Symbol	Classification	References	Source	Pathways
complex neurodevelopmental disorder	KMT2E	Unknown	—	ClinGen	Lysine degradation Metabolic pathways PKMTs methylate histone lysines +1 more
	KMT5B	Unknown	—	ClinGen	Lysine degradation Metabolic pathways PKMTs methylate histone lysines
	KPTN	Unknown	—	ClinGen	Amino acids regulate mTORC1
	LHX2	Unknown	—	ClinGen	—
	LINS1	Unknown	—	ClinGen	—
	MBD5	Unknown	—	ClinGen	Polycomb repressive complex UCH proteinases
	MBOAT7	Unknown	—	ClinGen	Glycerophospholipid metabolism Acyl chain remodelling of PI
	MED13	Unknown	—	ClinGen	Thyroid hormone signaling pathway PPARA activates gene expression Generic Transcription Pathway +1 more
	MEF2C	Unknown	—	ClinGen	MAPK signaling pathway cGMP-PKG signaling pathway Apelin signaling pathway +7 more
	NBEA	Unknown	—	ClinGen	—
	NCKAP1	Unknown	—	ClinGen	Regulation of actin cytoskeleton Pathogenic Escherichia coli infection Salmonella infection +4 more
	NOVA2	Unknown	—	ClinGen	—
	NRXN1	Unknown	—	ClinGen	Cell adhesion molecules Neurexins and neuroligins
	NRXN2	Unknown	—	ClinGen	Cell adhesion molecules Neurexins and neuroligins
	NTNG1	Unknown	—	ClinGen	Axon guidance Cell adhesion molecules Post-translational modification: synthesis of GPI-anchored proteins
	OTUD7A	Unknown	—	ClinGen	Ovarian tumor domain proteases
	PHF12	Unknown	33057194 28135719 27479843 28263302	ClinGen	—
	PHF21A	Unknown	—	ClinGen	HDACs deacetylate histones Factors involved in megakaryocyte development and platelet production
	PIGA	Unknown	—	ClinGen	Glycosylphosphatidylinositol (GPI)-anchor biosynthesis Metabolic pathways Synthesis of glycosylphosphatidylinositol (GPI)
	PIGO	Unknown	—	ClinGen	Glycosylphosphatidylinositol (GPI)-anchor biosynthesis Metabolic pathways
	POU3F3	Unknown	—	ClinGen	—
	PPP2CA	Unknown	—	ClinGen	mRNA surveillance pathway Sphingolipid signaling pathway Cell cycle +47 more
	PPP2R1A	Unknown	—	ClinGen	mRNA surveillance pathway Sphingolipid signaling pathway Cell cycle +52 more
	PPP2R5C	Unknown	—	ClinGen	mRNA surveillance pathway Sphingolipid signaling pathway Cell cycle +30 more
	PPP2R5D	Unknown	—	ClinGen	mRNA surveillance pathway Sphingolipid signaling pathway Cell cycle +32 more
	PRICKLE2	Unknown	—	ClinGen	Wnt signaling pathway
	PURA	Unknown	—	ClinGen	—
	RALA	Unknown	—	ClinGen	Ras signaling pathway Rap1 signaling pathway Phospholipase D signaling pathway +5 more
	RFX3	Unknown	25844147 31981491 35982159 37717291 33658631 21792059 27525107	ClinGen	—
	RFX7	Unknown	—	ClinGen	—
	RHOBTB2	Unknown	—	ClinGen	Ubiquitin mediated proteolysis Rho GTPase cycle
	RORB	Unknown	—	ClinGen	Circadian rhythm
	RSRC1	Unknown	—	ClinGen	—
	SATB1	Unknown	—	ClinGen	Apoptotic cleavage of cellular proteins SUMOylation of chromatin organization proteins
	SETBP1	Unknown	—	ClinGen	—
	SETD1B	Unknown	—	ClinGen	Lysine degradation Metabolic pathways PKMTs methylate histone lysines +1 more
	SHANK1	Unknown	—	ClinGen	Glutamatergic synapse Neurexins and neuroligins
	SHANK2	Unknown	—	ClinGen	Glutamatergic synapse Neurexins and neuroligins
	SLC4A10	Unknown	—	ClinGen	Bicarbonate transporters
	SLC7A5	Unknown	—	ClinGen	mTOR signaling pathway Central carbon metabolism in cancer Basigin interactions +2 more
	SMARCA5	Unknown	—	ClinGen	ATP-dependent chromatin remodeling B-WICH complex positively regulates rRNA expression Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks +1 more
	SOX6	Unknown	—	ClinGen	Deactivation of the beta-catenin transactivating complex
	ST3GAL3	Unknown	—	ClinGen	Various types of N-glycan biosynthesis Other types of O-glycan biosynthesis Mannose type O-glycan biosynthesis +8 more
	STAG1	Unknown	—	ClinGen	Cell cycle Separation of Sister Chromatids Establishment of Sister Chromatid Cohesion +4 more
	TBL1XR1	Unknown	—	ClinGen	Wnt signaling pathway RORA activates gene expression PPARA activates gene expression +11 more
	TBR1	Unknown	—	ClinGen	—
	TCF7L2	Unknown	—	ClinGen	Wnt signaling pathway Hippo signaling pathway Adherens junction +26 more
	TLK2	Unknown	—	ClinGen	—
	TNRC6B	Unknown	—	ClinGen	Pre-NOTCH Transcription and Translation Oxidative Stress Induced Senescence Oncogene Induced Senescence +12 more
	TRIP12	Unknown	—	ClinGen	Ubiquitin mediated proteolysis Antigen processing: Ubiquitination & Proteasome degradation

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complex neurodevelopmental disorder

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