Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 59	617323 C4310619 OMIM:617323	IMPA1	Unknown	—	CTD, Disgenet, HPO	Inositol phosphate metabolism Metabolic pathways Phosphatidylinositol signaling system +1 more
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 6	611092 C1970198	GRIK2	Unknown	—	Disgenet, HPO	Neuroactive ligand-receptor interaction Glutamatergic synapse Activation of Na-permeable kainate receptors +1 more
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 60	617432 C4479476 OMIM:617432	TAF13	Unknown	—	CTD, Disgenet, HPO	Basal transcription factors RNA Polymerase II Pre-transcription Events Regulation of TP53 Activity through Phosphorylation +5 more
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 61	617773 C4540424	RUSC2	Unknown	—	Disgenet, HPO	—
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 64	618103	LINGO1	Unknown	—	HPO	Axonal growth inhibition (RHOA activation)
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 65	618109 C4748219	KDM5B	Unknown	—	Disgenet, HPO	HDMs demethylate histones TFAP2 (AP-2) family regulates transcription of cell cycle factors
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 66	618221 C4748732	FERRY3	Unknown	—	Disgenet, HPO	—
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 79	620393 C5830553 MONDO:0957288	TPR	Unknown	24082139 25363768 28191890 34494102	ClinVar, Disgenet, GWAS catalog, HPO	Nucleocytoplasmic transport Amyotrophic lateral sclerosis Pathways in cancer +27 more
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 83	621100 MONDO:0976231	KICS2	Unknown	—	ClinVar, HPO	—
INTELLECTUAL DEVELOPMENTAL DISORDER, FRA12A TYPE	136630	DIP2B	Unknown	—	HPO	—
INTELLECTUAL DISABILITY	C3714756 MONDO:0001071 MESH:D008607	ABCD1	Unknown	—	Disgenet	ABC transporters Peroxisome ABC transporters in lipid homeostasis +5 more
		ACOT4	Unknown	—	Disgenet	Fatty acid elongation Biosynthesis of unsaturated fatty acids Metabolic pathways +3 more
		ACTL6A	Unknown	28649782	Disgenet	ATP-dependent chromatin remodeling Thermogenesis Hepatocellular carcinoma +4 more
		ACTR2	Unknown	—	Disgenet	Endocytosis Tight junction Fc gamma R-mediated phagocytosis +12 more
		ADGRG6	Unknown	—	Disgenet, GenCC	EGR2 and SOX10-mediated initiation of Schwann cell myelination
		ADK	Unknown	21937992	CTD	Purine metabolism Metabolic pathways Nucleotide metabolism +1 more
		ADRA2B	Unknown	21937992	CTD	cGMP-PKG signaling pathway Neuroactive ligand-receptor interaction Hormone signaling +4 more
		AFF3	Unknown	38811945	Disgenet	—
		AGA	Unknown	—	Disgenet	Other glycan degradation Lysosome Neutrophil degranulation
		AHCTF1	Unknown	—	Disgenet	Nucleocytoplasmic transport Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal Separation of Sister Chromatids +5 more
		AHI1	Unknown	21937992	CTD, Disgenet	Anchoring of the basal body to the plasma membrane
		ALDH4A1	Unknown	—	Disgenet	Alanine, aspartate and glutamate metabolism Arginine and proline metabolism Metabolic pathways +2 more
		ALDH5A1	Unknown	23825041	CTD, Disgenet	Alanine, aspartate and glutamate metabolism Butanoate metabolism Metabolic pathways +1 more
		ALDH7A1	Unknown	—	Disgenet	Glycolysis / Gluconeogenesis Ascorbate and aldarate metabolism Fatty acid degradation +14 more
		ALG3	Unknown	—	Disgenet	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +2 more
		AMPD2	Unknown	—	Disgenet	Purine metabolism Metabolic pathways Nucleotide metabolism +2 more
		ANGPT2	Unknown	—	Disgenet	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +4 more
		ANK2	Unknown	—	Disgenet	Cytoskeleton in muscle cells Proteoglycans in cancer Interaction between L1 and Ankyrins +1 more
		ANKH	Unknown	—	Disgenet	Miscellaneous transport and binding events
		AP3B1	Unknown	—	Disgenet	Lysosome Golgi Associated Vesicle Biogenesis Signaling by BRAF and RAF fusions
		AP4E1	Unknown	21937992	CTD	Lysosome Lysosome Vesicle Biogenesis Golgi Associated Vesicle Biogenesis
		APC	Unknown	8071957	CTD	Wnt signaling pathway Hippo signaling pathway Signaling pathways regulating pluripotency of stem cells +28 more
		ARFGEF2	Unknown	—	Disgenet	Endocytosis
		ARHGAP4	Unknown	—	Disgenet, GenCC	Rho GTPase cycle
		ARHGEF9	Unknown	—	Disgenet	NRAGE signals death through JNK Rho GTPase cycle G alpha (12/13) signalling events +1 more
		ARID1A	Unknown	—	Disgenet	ATP-dependent chromatin remodeling Thermogenesis Hepatocellular carcinoma +2 more
		ARL14EP	Unknown	21937992	CTD	—
		ARMCX5-GPRASP2	Unknown	—	Disgenet	—
		ASCC3	Unknown	21937992	CTD, Disgenet, GenCC	ALKBH3 mediated reversal of alkylation damage
		ASCL1	Unknown	21937992	CTD	NGF-stimulated transcription
		ASPA	Unknown	—	Disgenet	Alanine, aspartate and glutamate metabolism Histidine metabolism Metabolic pathways +1 more
		ASTN2	Unknown	—	Disgenet, GenCC	—
		ASXL1	Unknown	—	Disgenet	Polycomb repressive complex UCH proteinases
		ATP2B3	Unknown	—	Disgenet	Calcium signaling pathway cGMP-PKG signaling pathway cAMP signaling pathway +9 more
		ATP6V0A1	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Lysosome +13 more
		AURKA	Unknown	—	Disgenet, GenCC	Oocyte meiosis Progesterone-mediated oocyte maturation APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1 +6 more
		B3GALNT2	Unknown	—	Disgenet, GenCC	Mannose type O-glycan biosynthesis Metabolic pathways O-linked glycosylation
		BBS10	Unknown	—	Disgenet	BBSome-mediated cargo-targeting to cilium
		BBS7	Unknown	21937992	CTD	BBSome-mediated cargo-targeting to cilium
		BCKDHA	Unknown	—	Disgenet	Valine, leucine and isoleucine degradation Propanoate metabolism Lipoic acid metabolism +4 more
		KDM5B	Unknown	22020125 26077434 29276005 30409806 34573379	ClinGen, Disgenet	HDMs demethylate histones TFAP2 (AP-2) family regulates transcription of cell cycle factors
		TPR	Unknown	—	Disgenet	Nucleocytoplasmic transport Amyotrophic lateral sclerosis Pathways in cancer +27 more
MENTAL RETARDATION	C0025362	ADK	Unknown	11997462 21937992 21963049 27903722 30771478 33309011 34765398 39899686	Disgenet	Purine metabolism Metabolic pathways Nucleotide metabolism +1 more
		ADRA2B	Unknown	21937992	Disgenet	cGMP-PKG signaling pathway Neuroactive ligand-receptor interaction Hormone signaling +4 more
		AHI1	Unknown	—	Disgenet	Anchoring of the basal body to the plasma membrane
		ALDH5A1	Unknown	—	Disgenet	Alanine, aspartate and glutamate metabolism Butanoate metabolism Metabolic pathways +1 more
		AP4E1	Unknown	—	Disgenet	Lysosome Lysosome Vesicle Biogenesis Golgi Associated Vesicle Biogenesis
		APC	Unknown	—	Disgenet	Wnt signaling pathway Hippo signaling pathway Signaling pathways regulating pluripotency of stem cells +28 more
		ARL14EP	Unknown	21937992	Disgenet	—
		ASCC3	Unknown	21937992	Disgenet	ALKBH3 mediated reversal of alkylation damage
		ASCL1	Unknown	21937992	Disgenet	NGF-stimulated transcription
		BBS7	Unknown	—	Disgenet	BBSome-mediated cargo-targeting to cilium
		IMPA1	Unknown	—	Disgenet	Inositol phosphate metabolism Metabolic pathways Phosphatidylinositol signaling system +1 more
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6	MESH:C567017	GRIK2	Unknown	17847003	CTD	Neuroactive ligand-receptor interaction Glutamatergic synapse Activation of Na-permeable kainate receptors +1 more
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 64	C4748192	LINGO1	Unknown	—	Disgenet	Axonal growth inhibition (RHOA activation)
MENTAL RETARDATION, FRA12A TYPE	C1969893 MESH:C566980	DIP2B	Unknown	—	CTD, Disgenet	—

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Intellectual developmental disorder

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