Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
complex neurodevelopmental disorder	MONDO:0100038 MONDO_0100038	HNRNPD	Unknown	—	ClinGen	AUF1 (hnRNP D0) binds and destabilizes mRNA mRNA Splicing - Major Pathway Processing of Capped Intron-Containing Pre-mRNA
		HNRNPU	Unknown	—	ClinGen	Spliceosome mRNA Splicing - Major Pathway Processing of Capped Intron-Containing Pre-mRNA
		IQSEC1	Unknown	—	ClinGen	Endocytosis
		KCNB1	Unknown	—	ClinGen	Voltage gated Potassium channels Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
		KCNC1	Unknown	—	ClinGen	Voltage gated Potassium channels
		KCNQ3	Unknown	—	ClinGen	Cholinergic synapse Voltage gated Potassium channels
		KCNT2	Unknown	—	ClinGen	—
		KLHL20	Unknown	—	ClinGen	Neddylation Antigen processing: Ubiquitination & Proteasome degradation
		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	—
		LOC101927178	Unknown	25558065 38767059	Open Targets	—
		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, Open Targets	—
		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	39978342	ClinGen, Open Targets	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, Open Targets	—
		RFX4	Unknown	33658631 25961944	Open Targets	—
		RFX7	Unknown	—	ClinGen	—
		RHOBTB2	Unknown	—	ClinGen	Ubiquitin mediated proteolysis Rho GTPase cycle
		RORB	Unknown	—	ClinGen	Circadian rhythm
		RPS6KC1	Unknown	41130203	Open Targets	—
		RSRC1	Unknown	—	ClinGen	—
		RYBP	Unknown	39891528	Open Targets	Polycomb repressive complex RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known Transcriptional Regulation by E2F6
		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

Complex neurodevelopmental disorder

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