Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
INTELLECTUAL DISABILITY	C3714756 MESH:D008607 MONDO:0001071	RALGAPB	Causal	—	Disgenet	Ras signaling pathway
		RBFOX1	Causal	—	Disgenet	—
		RDH14	Causal	—	Disgenet	RA biosynthesis pathway
		RPS6KA3	Causal	—	Disgenet	MAPK signaling pathway Oocyte meiosis mTOR signaling pathway +13 more
		SAMD9L	Causal	—	Disgenet	—
		SATB2	Causal	—	Disgenet	SUMOylation of chromatin organization proteins
		SBDS	Causal	—	Disgenet	Ribosome biogenesis in eukaryotes
		SCAF4	Causal	—	Disgenet	—
		SCN1A	Causal	28191889	CTD, Disgenet	Dopaminergic synapse Phase 0 - rapid depolarisation
		SCN2A	Causal	30062040	Disgenet	Taste transduction Phase 0 - rapid depolarisation
		SCN8A	Causal	16236810	CTD, Disgenet	Phase 0 - rapid depolarisation
		SEMA6B	Causal	32169168 35604360	Disgenet, HPO	Axon guidance
		SET	Causal	20800572 21515671 25356899 28263302 28966118 29688601 29749127 29907757 31238879 33287870	ClinGen, Disgenet, GWAS catalog	Condensation of Prophase Chromosomes HuR (ELAVL1) binds and stabilizes mRNA
		SETBP1	Causal	20436468 25217958	CTD, Disgenet	—
		SETD1A	Causal	—	Disgenet	Lysine degradation Metabolic pathways PKMTs methylate histone lysines +1 more
		SETD5	Causal	24680889 25138099 27375234 28263952 28549204 28881385 28905509 31656537 34169511 35132768 36335838 37797428	Disgenet	—
		SGSH	Causal	—	Disgenet	Glycosaminoglycan degradation Metabolic pathways Lysosome +2 more
		SHANK1	Causal	—	Disgenet	Glutamatergic synapse Neurexins and neuroligins
		SHANK2	Causal	20473310	CTD, Disgenet	Glutamatergic synapse Neurexins and neuroligins
		SHANK3	Causal	16284256	CTD, Disgenet	Glutamatergic synapse
		SIN3A	Causal	27399968	CTD	TGF-beta signaling pathway Thyroid hormone signaling pathway Huntington disease +7 more
		SKI	Causal	—	Disgenet	TGF-beta signaling pathway Signaling by BMP Downregulation of SMAD2/3:SMAD4 transcriptional activity
		SLC16A2	Causal	—	Disgenet	Hormone signaling Thyroid hormone signaling pathway Transport of organic anions
		SLC2A1	Causal	21937992	CTD, Disgenet	HIF-1 signaling pathway Efferocytosis Insulin secretion +15 more
		SLC32A1	Causal	—	Disgenet	Synaptic vesicle cycle Retrograde endocannabinoid signaling GABAergic synapse +4 more
		SLC6A1	Causal	—	Disgenet	Synaptic vesicle cycle GABAergic synapse Na+/Cl- dependent neurotransmitter transporters +1 more
		SLC6A8	Causal	—	Disgenet	Creatine metabolism
		SLC9A6	Causal	—	Disgenet	Cardiac muscle contraction Sodium/Proton exchangers Defective SLC9A6 causes X-linked, syndromic mental retardation,, Christianson type (MRXSCH)
		SLITRK2	Causal	—	Disgenet	Cell adhesion molecules Receptor-type tyrosine-protein phosphatases
		SLITRK3	Causal	—	Disgenet	Cell adhesion molecules Receptor-type tyrosine-protein phosphatases
		SMAD4	Causal	—	Disgenet	FoxO signaling pathway Hormone signaling Cell cycle +30 more
		SMARCA2	Causal	—	Disgenet	ATP-dependent chromatin remodeling Thermogenesis Hepatocellular carcinoma +2 more
		SMARCA4	Causal	—	Disgenet	ATP-dependent chromatin remodeling Thermogenesis Hepatocellular carcinoma +6 more
		SMARCA5	Causal	—	Disgenet	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
		SMC1A	Causal	—	Disgenet	Cell cycle Oocyte meiosis Separation of Sister Chromatids +5 more
		SMC3	Causal	—	Disgenet	Cell cycle Oocyte meiosis Separation of Sister Chromatids +5 more
		SMPD1	Causal	—	Disgenet	Sphingolipid metabolism Metabolic pathways Sphingolipid signaling pathway +3 more
		SMS	Causal	—	Disgenet	Cysteine and methionine metabolism Arginine and proline metabolism Glutathione metabolism +2 more
		SNAP25	Causal	—	Disgenet	Synaptic vesicle cycle Insulin secretion Serotonin Neurotransmitter Release Cycle +10 more
		SNRPB	Causal	—	Disgenet	Spliceosome Systemic lupus erythematosus SLBP independent Processing of Histone Pre-mRNAs +5 more
		SON	Causal	—	Disgenet	—
		SOX4	Causal	—	Disgenet	MicroRNAs in cancer Deactivation of the beta-catenin transactivating complex
		SOX5	Causal	—	Disgenet	—
		SOX6	Causal	—	Disgenet	Deactivation of the beta-catenin transactivating complex
		SP9	Causal	—	Disgenet	—
		SPG7	Causal	—	Disgenet	Processing of SMDT1
		SPR	Causal	—	Disgenet	Folate biosynthesis Metabolic pathways Biosynthesis of cofactors +2 more
		SPTBN2	Causal	—	Disgenet	Cytoskeleton in muscle cells Spinocerebellar ataxia Pathways of neurodegeneration - multiple diseases +5 more
		SRSF1	Causal	—	Disgenet	Spliceosome IL-17 signaling pathway Herpes simplex virus 1 infection +5 more
		ST3GAL5	Causal	—	Disgenet	Glycosphingolipid biosynthesis - ganglio series Metabolic pathways Sialic acid metabolism
INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 16	MONDO:0013821	SMARCA4	Causal	24700502 30973214 31160358	ClinVar, GWAS catalog	ATP-dependent chromatin remodeling Thermogenesis Hepatocellular carcinoma +6 more
INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 29	MONDO:0014482	SETBP1	Causal	—	ClinVar, GenCC	—
INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 58	MONDO:0020847	SET	Causal	28135719 29688601 29907757 35122673	ClinVar, GenCC	Condensation of Prophase Chromosomes HuR (ELAVL1) binds and stabilizes mRNA

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Intellectual developmental disorder

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