Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
INTELLECTUAL DISABILITY	C3714756 MONDO:0001071 MESH:D008607	STX1A	Causal	—	Disgenet	SNARE interactions in vesicular transport Synaptic vesicle cycle Insulin secretion +13 more
		STXBP1	Causal	—	Disgenet, GenCC	Synaptic vesicle cycle Serotonin Neurotransmitter Release Cycle Norepinephrine Neurotransmitter Release Cycle +4 more
		SVBP	Causal	—	Disgenet	—
		SYN1	Causal	—	Disgenet	Serotonin Neurotransmitter Release Cycle Dopamine Neurotransmitter Release Cycle
		SYNGAP1	Causal	21076407	CTD, Disgenet	Ras signaling pathway Regulation of RAS by GAPs
		TAF1	Causal	—	Disgenet	Basal transcription factors RNA Polymerase II Pre-transcription Events Regulation of TP53 Activity through Phosphorylation +4 more
		TANC2	Causal	—	Disgenet	—
		TANGO2	Causal	—	Disgenet	—
		TBCK	Causal	—	Disgenet	—
		TBL1XR1	Causal	—	Disgenet	Wnt signaling pathway RORA activates gene expression PPARA activates gene expression +11 more
		TBR1	Causal	—	Disgenet	—
		TBRG1	Causal	—	Disgenet	—
		TCF20	Causal	—	Disgenet	—
		TCF4	Causal	—	Disgenet, GenCC	Myogenesis
		TET3	Causal	—	Disgenet	—
		TFE3	Causal	—	Disgenet	Mitophagy - animal Transcriptional misregulation in cancer Renal cell carcinoma
		TLK2	Causal	—	Disgenet	—
		TRAPPC10	Causal	—	Disgenet	COPII-mediated vesicle transport RAB GEFs exchange GTP for GDP on RABs
		TRAPPC9	Causal	—	Disgenet	COPII-mediated vesicle transport RAB GEFs exchange GTP for GDP on RABs
		TRIP12	Causal	—	Disgenet	Ubiquitin mediated proteolysis Antigen processing: Ubiquitination & Proteasome degradation
		TRPM1	Causal	—	Disgenet	TRP channels
		TRPM3	Causal	—	Disgenet, GenCC	TRP channels
		TSC2	Causal	—	Disgenet	Phospholipase D signaling pathway p53 signaling pathway Autophagy - animal +19 more
		TSEN54	Causal	18711368	CTD, Disgenet	tRNA processing in the nucleus
		TUSC3	Causal	18455129 19717468 20152124 21739581 23806237 26077850 27148795 30500859	ClinGen, Disgenet	N-Glycan biosynthesis Various types of N-glycan biosynthesis Protein processing in endoplasmic reticulum +2 more
		UBE3A	Causal	—	Disgenet	Ubiquitin mediated proteolysis Human papillomavirus infection Viral carcinogenesis +1 more
		UNC80	Causal	—	Disgenet	Stimuli-sensing channels
		UPF1	Causal	—	Disgenet	Nucleocytoplasmic transport mRNA surveillance pathway Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) +1 more
		UPF3B	Causal	—	Disgenet	Nucleocytoplasmic transport mRNA surveillance pathway Transport of Mature mRNA derived from an Intron-Containing Transcript +4 more
		USP27X	Causal	—	Disgenet	—
		USP7	Causal	—	Disgenet	Polycomb repressive complex FoxO signaling pathway Epstein-Barr virus infection +9 more
		USP9X	Causal	—	Disgenet	Downregulation of SMAD2/3:SMAD4 transcriptional activity Ub-specific processing proteases Synthesis of active ubiquitin: roles of E1 and E2 enzymes +2 more
		WASF1	Causal	—	Disgenet	Adherens junction Fc gamma R-mediated phagocytosis Regulation of actin cytoskeleton +8 more
		WDR26	Causal	—	Disgenet	—
		WDR45	Causal	—	Disgenet	Autophagy - animal Macroautophagy
		WDR62	Causal	21937992	CTD, Disgenet	—
		YY1	Causal	21076407	CTD, Disgenet	ATP-dependent chromatin remodeling Polycomb repressive complex UCH proteinases +3 more
		ZBTB18	Causal	—	Disgenet	—
		ZBTB20	Causal	—	Disgenet	—
		ZDHHC9	Causal	—	Disgenet	—
		ZEB2	Causal	—	Disgenet	MicroRNAs in cancer
		ZFYVE26	Causal	—	Disgenet	—
		ZNF142	Causal	—	Disgenet	—
		ZNF148	Causal	—	Disgenet	—
		ZNF526	Causal	21937992	CTD, Disgenet	—
		ZNF711	Causal	—	Disgenet	Generic Transcription Pathway
INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 14	MONDO:0013819	ARID1A	Causal	—	ClinVar, GenCC	ATP-dependent chromatin remodeling Thermogenesis Hepatocellular carcinoma +2 more
INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 15	MONDO:0013820	SMARCB1	Causal	22426308 22726846 23815551 23906836 23929686 25249037 29907796	ClinVar, GWAS catalog	ATP-dependent chromatin remodeling Viral life cycle - HIV-1 Thermogenesis +3 more
INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 22	MONDO:0012869	ZBTB18	Causal	22095278 23020937 24193349 25613900 26740508 27598823	ClinVar, GWAS catalog	—
INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 24	MONDO:0014357	DEAF1	Causal	21076407 24726472	ClinVar, Disgenet	—
INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 30	MONDO:0014486	ZMYND11	Causal	—	ClinVar, GenCC	—
INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 41	MONDO:0014842	TBL1XR1	Causal	23160955 25425123 29777588 25102098 32524419 35611576 37171308 37683765	ClinVar	Wnt signaling pathway RORA activates gene expression PPARA activates gene expression +11 more
INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 5	MONDO:0012960	SYNGAP1	Causal	23708187 21237447 19196676 23141534 23033978 23161826 31395010 30800045 30685520 30572772 30556619 29381230 28721930 28576131 26989088 26110312 26079862 20188038 21480541 30875700 30901256 31302919 32472547 32913957 33639450 34573	ClinVar, GWAS catalog	Ras signaling pathway Regulation of RAS by GAPs
INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 57	MONDO:0054837	TLK2	Causal	27479843 29861108	ClinVar, GenCC	—
INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 13	MONDO:0013173	TRAPPC9	Causal	20004764 17120046 20004763 22549410 20004765 22989526 29031008 30853973 31703139 32162493 33513295 33719327 33921338 34983975 35042660 36158060 36348459 36574751 38058760	ClinVar, GWAS catalog	COPII-mediated vesicle transport RAB GEFs exchange GTP for GDP on RABs
INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 7	MONDO:0012615	TUSC3	Causal	18455129 21739581	ClinVar	N-Glycan biosynthesis Various types of N-glycan biosynthesis Protein processing in endoplasmic reticulum +2 more

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Intellectual developmental disorder

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