Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 33	MONDO:0014580	DPP6	Causal	—	ClinVar, GenCC	—
INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 34	MONDO:0014599	CERT1	Causal	25533962	ClinVar, GWAS catalog	Sphingolipid de novo biosynthesis
INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 4	MONDO:0012947	KIRREL3	Causal	19012874	Disgenet	Nephrin family interactions
INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 45	MONDO:0030910	CIC	Causal	19344873 21076407 24307393 28288114 32382396	ClinVar, GWAS catalog	Spinocerebellar ataxia
INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 46	MONDO:0030911	KCNQ5	Causal	28669405 30525188 31164858 32938993 35377796 35583973 36088682	ClinVar, GWAS catalog	Cholinergic synapse Voltage gated Potassium channels
INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 47	MONDO:0030912	STAG1	Causal	28119487 30158690	ClinVar, GWAS catalog	Cell cycle Separation of Sister Chromatids Establishment of Sister Chromatid Cohesion +4 more
INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 48	MONDO:0030913	RAC1	Causal	19007770 28886345 28928363 30042656	ClinVar, GWAS catalog	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +89 more
INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 52	MONDO:0030918	ASH1L	Causal	12702659 23033978 28191889 29276005	ClinVar, GWAS catalog	Lysine degradation Metabolic pathways PKMTs methylate histone lysines
INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 55, WITH SEIZURES	MONDO:0030921	NUS1	Causal	—	ClinVar, GenCC	Terpenoid backbone biosynthesis Synthesis of Dolichyl-phosphate Defective DHDDS causes retinitis pigmentosa 59
INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 9	MONDO:0013656	KIF1A	Causal	21376300 32096284 30385166 26486474 26354034 26125038 25265257 25253658 26410750 27034427 28834584 28970574 28985824 30582020 30862385 31488895 31796088 31805580 31813911 32652677 32737135 32746806 32935419 33880452 34121983 34247	ClinVar, GWAS catalog	Motor proteins COPI-dependent Golgi-to-ER retrograde traffic Kinesins
INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 1	MONDO:0009580	PRSS12	Causal	12459588	ClinVar, GWAS catalog	—
INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 12	MONDO:0012612	ST3GAL3	Causal	21907012 17120046	ClinVar, GWAS catalog	Various types of N-glycan biosynthesis Other types of O-glycan biosynthesis Mannose type O-glycan biosynthesis +8 more
INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 2	MONDO:0011828	CRBN	Causal	18414909	ClinVar	—
INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 3	MONDO:0012037	CC2D1A	Causal	16033914	ClinVar, Disgenet	—
INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 42	MONDO:0014348	PGAP1	Causal	10529425 17711852 19593386 23213481 24784135 25804403 25823418 26050939 27848944	ClinVar, GWAS catalog	Glycosylphosphatidylinositol (GPI)-anchor biosynthesis Metabolic pathways Attachment of GPI anchor to uPAR
INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 43	MONDO:0014354	WASHC4	Causal	—	ClinVar, GenCC	Endocytosis
INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 45	MONDO:0014430	FBXO31	Causal	—	ClinVar, GenCC	Neddylation Antigen processing: Ubiquitination & Proteasome degradation
INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 46	MONDO:0014499	NDST1	Causal	20807640 21937992 25125150 25767878 28211985 28600779 31164858	ClinVar	Glycosaminoglycan biosynthesis - heparan sulfate / heparin Metabolic pathways HS-GAG biosynthesis
INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 47	MONDO:0014524	FMN2	Causal	—	ClinVar, GenCC	Cytoskeleton in muscle cells
INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 50	MONDO:0014649	EDC3	Causal	25701870	ClinVar, Disgenet	RNA degradation mRNA decay by 5' to 3' exoribonuclease
INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 51	MONDO:0014759	HNMT	Causal	26206890	ClinVar, Disgenet	Histidine metabolism Metabolic pathways Histidine catabolism
INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 53	MONDO:0014832	PIGG	Causal	—	ClinVar, GenCC	Glycosylphosphatidylinositol (GPI)-anchor biosynthesis Metabolic pathways Synthesis of glycosylphosphatidylinositol (GPI)
INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 54	MONDO:0014876	TNIK	Causal	23035106 27106596	CTD, ClinVar	Oxidative Stress Induced Senescence
INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 58	MONDO:0014996	ELP2	Causal	21937992 25847581 32573669 33393008 33976153 34653680	ClinVar, GWAS catalog	—
INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 59	MONDO:0015020	IMPA1	Causal	—	ClinVar, GenCC	Inositol phosphate metabolism Metabolic pathways Phosphatidylinositol signaling system +1 more
INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 60	MONDO:0044313	TAF13	Causal	28257693	ClinVar, HPO	Basal transcription factors RNA Polymerase II Pre-transcription Events Regulation of TP53 Activity through Phosphorylation +5 more
INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 61	MONDO:0030915	RUSC2	Causal	27612186	ClinGen, ClinVar, GWAS catalog	—
INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 64	MONDO:0020846	LINGO1	Causal	—	ClinVar, GenCC	Axonal growth inhibition (RHOA activation)
INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 65	MONDO:0020850	KDM5B	Causal	23637629 29276005 30409806	ClinVar, GWAS catalog	HDMs demethylate histones TFAP2 (AP-2) family regulates transcription of cell cycle factors

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Intellectual developmental disorder

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