Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
INTELLECTUAL DISABILITY	C3714756 MESH:D008607 MONDO:0001071	AP4M1	Causal	21937992	CTD, Disgenet	Lysosome Lysosome Vesicle Biogenesis
		AP4S1	Causal	—	Disgenet	Lysosome Lysosome Vesicle Biogenesis
		AQP4	Causal	—	Disgenet, GenCC	Vasopressin-regulated water reabsorption Bile secretion Vasopressin regulates renal water homeostasis via Aquaporins +1 more
		ARF3	Causal	—	Disgenet	Endocytosis Synthesis of PIPs at the Golgi membrane COPI-mediated anterograde transport +1 more
		ARFGEF1	Causal	—	Disgenet	Endocytosis
		ARID1B	Causal	—	Disgenet	ATP-dependent chromatin remodeling Thermogenesis Hepatocellular carcinoma +2 more
		ARSA	Causal	—	Disgenet	Sphingolipid metabolism Metabolic pathways Lysosome +3 more
		ARX	Causal	—	Disgenet	—
		ASH2L	Causal	—	Disgenet	Cushing syndrome Formation of the beta-catenin:TCF transactivating complex PKMTs methylate histone lysines +2 more
		ASPM	Causal	—	Disgenet	—
		ASXL3	Causal	—	Disgenet	Polycomb repressive complex
		ATP1A1	Causal	—	Disgenet	cGMP-PKG signaling pathway cAMP signaling pathway Cardiac muscle contraction +18 more
		ATRX	Causal	—	Disgenet	Cell cycle
		AUTS2	Causal	—	Disgenet	Polycomb repressive complex RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
		BCKDK	Causal	—	Disgenet	Branched-chain amino acid catabolism
		BCL11A	Causal	—	Disgenet	—
		BCORL1	Causal	—	Disgenet	Polycomb repressive complex
		BCS1L	Causal	—	Disgenet	—
		BICRA	Causal	—	Disgenet	ATP-dependent chromatin remodeling
		BPTF	Causal	—	Disgenet	ATP-dependent chromatin remodeling
		BRCA2	Causal	—	Disgenet	Homologous recombination Fanconi anemia pathway Pathways in cancer +7 more
		BRD4	Causal	—	Disgenet	—
		BRPF1	Causal	—	Disgenet	HATs acetylate histones Regulation of TP53 Activity through Acetylation
		BRWD3	Causal	17668385 24462886 30628072 31714006 36414205 36514184	Disgenet	—
		BTD	Causal	—	Disgenet	Biotin metabolism Metabolic pathways Vitamin digestion and absorption +2 more
		C19ORF12	Causal	—	Disgenet	—
		CACNA1A	Causal	—	Disgenet	MAPK signaling pathway Calcium signaling pathway Synaptic vesicle cycle +15 more
		CACNA1C	Causal	—	Disgenet, GenCC	MAPK signaling pathway Calcium signaling pathway cGMP-PKG signaling pathway +34 more
		CACNG7	Causal	—	Disgenet	MAPK signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +6 more
		CAMK2A	Causal	—	Disgenet	ErbB signaling pathway Calcium signaling pathway cAMP signaling pathway +45 more
		CAMK2B	Causal	—	Disgenet	ErbB signaling pathway Calcium signaling pathway cAMP signaling pathway +44 more
		CAMK4	Causal	—	Disgenet	Calcium signaling pathway cAMP signaling pathway Longevity regulating pathway +12 more
		CAMTA1	Causal	—	Disgenet	—
		CAPZA2	Causal	—	Disgenet	Endocytosis Motor proteins Cytoskeleton in muscle cells +6 more
		CARNMT1	Causal	—	Disgenet	Histidine metabolism Metabolic pathways Histidine catabolism
		CASK	Causal	—	Disgenet	Dopamine Neurotransmitter Release Cycle Neurexins and neuroligins
		CBS	Causal	—	Disgenet	Glycine, serine and threonine metabolism Cysteine and methionine metabolism One carbon pool by folate +3 more
		CCDC82	Causal	—	Disgenet	—
		CDKL5	Causal	—	Disgenet	—
		CELSR2	Causal	—	Disgenet	—
		CEP290	Causal	—	Disgenet	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +5 more
		CEP97	Causal	—	Disgenet	Anchoring of the basal body to the plasma membrane
		CHAF1B	Causal	—	Disgenet, GenCC	—
		CHAMP1	Causal	—	Disgenet	—
		CHD2	Causal	—	Disgenet	—
		CHD3	Causal	—	Disgenet	ATP-dependent chromatin remodeling HDACs deacetylate histones SUMOylation of chromatin organization proteins +3 more
		CHD5	Causal	—	Disgenet	—
		CHD8	Causal	30670789	CTD, Disgenet, GenCC	Wnt signaling pathway Deactivation of the beta-catenin transactivating complex
		CINP	Causal	—	Disgenet	—
		CKAP2L	Causal	—	Disgenet	—
INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 40	MONDO:0014699	CHAMP1	Causal	26340335 26751395 27148580 35271727 36106092	ClinVar, GWAS catalog	—
INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 53	MONDO:0030919	CAMK2A	Causal	1321493 1378648 25143599 28130356 29100089 29560374	ClinVar, GWAS catalog	ErbB signaling pathway Calcium signaling pathway cAMP signaling pathway +45 more
INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 54	MONDO:0030920	CAMK2B	Causal	29100089 29560374	ClinVar, GWAS catalog	ErbB signaling pathway Calcium signaling pathway cAMP signaling pathway +44 more
INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 63	MONDO:0054861	CAMK2A	Causal	—	ClinVar, GenCC	ErbB signaling pathway Calcium signaling pathway cAMP signaling pathway +45 more

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Intellectual developmental disorder

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