Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1	C1969562 156200	CDH15	Unknown	—	Disgenet	Cell adhesion molecules Adherens junctions interactions Myogenesis
		CIC	Unknown	—	Disgenet	Spinocerebellar ataxia
		ITSN1	Unknown	—	Disgenet	NRAGE signals death through JNK Rho GTPase cycle EPHB-mediated forward signaling +3 more
		MBD5	Unknown	—	Disgenet, HPO	Polycomb repressive complex UCH proteinases
		SCN2A	Unknown	—	Disgenet	Taste transduction Phase 0 - rapid depolarisation
		SMARCA2	Unknown	—	Disgenet	ATP-dependent chromatin remodeling Thermogenesis Hepatocellular carcinoma +2 more
		TAOK1	Unknown	—	Disgenet	MAPK signaling pathway Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal Separation of Sister Chromatids +4 more
		WDFY3	Unknown	—	Disgenet	Autophagy - animal
		ZMYND11	Unknown	—	Disgenet	—
		ZNF462	Unknown	—	Disgenet	—
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 10	614256 C3280284 OMIM:614256	CACNG2	Unknown	—	CTD, Disgenet, HPO	MAPK signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +9 more
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 11	C3280285	EPB41L1	Unknown	—	Disgenet	Trafficking of AMPA receptors Neurexins and neuroligins
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 2	C3279842	DOCK8	Unknown	—	Disgenet	Factors involved in megakaryocyte development and platelet production
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 21	615502 C3809686 OMIM:615502	CTCF	Unknown	—	CTD, Disgenet, HPO	—
		GRIN2A	Unknown	—	Disgenet	Ras signaling pathway Rap1 signaling pathway Calcium signaling pathway +19 more
		KIF11	Unknown	—	Disgenet	Motor proteins MHC class II antigen presentation COPI-dependent Golgi-to-ER retrograde traffic +1 more
		MPDZ	Unknown	—	Disgenet	Tight junction
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 22	612337 OMIM:612337	ZBTB18	Unknown	—	CTD, HPO	—
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 23	615761 C3810406 OMIM:615761	SETD5	Unknown	—	CTD, Disgenet, HPO	—
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 26	615834 C4014435 OMIM:615834	AUTS2	Unknown	—	CTD, Disgenet, HPO	Polycomb repressive complex RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
		KMT2D	Unknown	—	Disgenet	Lysine degradation Metabolic pathways Cushing syndrome +4 more
		MYCBP2	Unknown	—	Disgenet	—
		RYR1	Unknown	—	Disgenet	Calcium signaling pathway Apelin signaling pathway Circadian entrainment +7 more
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 29	616078 C4015141 OMIM:616078	SETBP1	Unknown	—	CTD, Disgenet, HPO	—
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 3	612580	CDH15	Unknown	—	HPO	Cell adhesion molecules Adherens junctions interactions Myogenesis
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 30, WITH SPEECH DELAY AND BEHAVIORAL ABNORMALITIES	C4015167 616083 OMIM:616083	ATP2B1	Unknown	—	Disgenet	Calcium signaling pathway cGMP-PKG signaling pathway cAMP signaling pathway +9 more
	C4015167 616083 OMIM:616083	ZMYND11	Unknown	—	CTD, Disgenet, HPO	—
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 33	616311 C4225375 OMIM:616311	DPP6	Unknown	—	CTD, Disgenet, HPO	—
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 34	C4225156	CERT1	Unknown	—	Disgenet	Sphingolipid de novo biosynthesis
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 34	C4225156	POLK	Unknown	—	Disgenet	Fanconi anemia pathway Epstein-Barr virus infection Pathways in cancer +21 more
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 35	C5779996	MEA1	Unknown	—	Disgenet	—
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 35	C5779996	PPP2R5D	Unknown	—	Disgenet	mRNA surveillance pathway Sphingolipid signaling pathway Cell cycle +32 more
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 38	616393 C4225343 OMIM:616393	EEF1A2	Unknown	—	CTD, Disgenet, HPO	Nucleocytoplasmic transport Legionellosis Leishmaniasis
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 39	616521 C4225296 OMIM:616521	MYT1L	Unknown	—	CTD, Disgenet, HPO	—
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 41	616944 C4310784 OMIM:616944	TBL1XR1	Unknown	—	CTD, Disgenet, HPO	Wnt signaling pathway RORA activates gene expression PPARA activates gene expression +11 more
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 42	616973 C4310774 OMIM:616973	GNB1	Unknown	—	CTD, Disgenet, HPO	Ras signaling pathway Chemokine signaling pathway Hormone signaling +47 more
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 43	616977 C4310771 OMIM:616977	HIVEP2	Unknown	—	CTD, Disgenet, HPO	—
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 43	616977 C4310771 OMIM:616977	QARS1	Unknown	—	Disgenet	Aminoacyl-tRNA biosynthesis Metabolic pathways Cytosolic tRNA aminoacylation +1 more
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY	617061 C4310740 OMIM:617061	TRIO	Unknown	—	CTD, Disgenet, HPO	NRAGE signals death through JNK Rho GTPase cycle G alpha (q) signalling events +2 more
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 45	C4539848 617600	BCL11A	Unknown	—	Disgenet	—
		CIC	Unknown	—	Disgenet, HPO	Spinocerebellar ataxia
		PAFAH1B3	Unknown	—	Disgenet	Ether lipid metabolism Metabolic pathways COPI-independent Golgi-to-ER retrograde traffic
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 46	617601 C4539851	KCNQ5	Unknown	—	Disgenet, HPO	Cholinergic synapse Voltage gated Potassium channels
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 47	617635 C4539951	STAG1	Unknown	—	Disgenet, HPO	Cell cycle Separation of Sister Chromatids Establishment of Sister Chromatid Cohesion +4 more
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 48	617751 C4540321	RAC1	Unknown	—	Disgenet, HPO	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +89 more
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 48	617751 C4540321	RARB	Unknown	—	Disgenet	Pathways in cancer Small cell lung cancer Non-small cell lung cancer +3 more
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 5	612621 C2675473	SYNGAP1	Unknown	—	Disgenet, HPO	Ras signaling pathway Regulation of RAS by GAPs
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 50, WITH BEHAVIORAL ABNORMALITIES	617787 C4540470	NAA15	Unknown	—	Disgenet, HPO	—
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 51	617788 C4540474	KMT5B	Unknown	—	Disgenet, HPO	Lysine degradation Metabolic pathways PKMTs methylate histone lysines
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 52	617796 C4540478	ASH1L	Unknown	—	Disgenet, HPO	Lysine degradation Metabolic pathways PKMTs methylate histone lysines
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 53	617798 C4540481	CAMK2A	Unknown	—	Disgenet, HPO	ErbB signaling pathway Calcium signaling pathway cAMP signaling pathway +45 more
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 54	617799 C4540484	CAMK2B	Unknown	—	Disgenet, HPO	ErbB signaling pathway Calcium signaling pathway cAMP signaling pathway +44 more
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 55, WITH SEIZURES	617831 C4693371	NUS1	Unknown	—	Disgenet, HPO	Terpenoid backbone biosynthesis Synthesis of Dolichyl-phosphate Defective DHDDS causes retinitis pigmentosa 59
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 57	C4748003	AUTS2	Unknown	—	Disgenet	Polycomb repressive complex RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 5	C1970199	SYNGAP1	Unknown	—	Disgenet	Ras signaling pathway Regulation of RAS by GAPs
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 63	618095 C4748167	CAMK2A	Unknown	—	Disgenet, HPO	ErbB signaling pathway Calcium signaling pathway cAMP signaling pathway +45 more
INTELLECTUAL DISABILITY	C3714756 MONDO:0001071 MESH:D008607	ASH1L	Unknown	—	Disgenet	Lysine degradation Metabolic pathways PKMTs methylate histone lysines
		CDH15	Unknown	—	ClinGen, Disgenet	Cell adhesion molecules Adherens junctions interactions Myogenesis
		CIC	Unknown	21076407 28288114	CTD	Spinocerebellar ataxia
		DOCK8	Unknown	18060736	CTD, Disgenet	Factors involved in megakaryocyte development and platelet production
		KCNQ5	Unknown	—	Disgenet	Cholinergic synapse Voltage gated Potassium channels
		MEA1	Unknown	—	Disgenet	—
		PPP2R5D	Unknown	—	Disgenet	mRNA surveillance pathway Sphingolipid signaling pathway Cell cycle +32 more
		STAG1	Unknown	28191889	CTD, Disgenet	Cell cycle Separation of Sister Chromatids Establishment of Sister Chromatid Cohesion +4 more
INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 10	MONDO:0013657	CACNG2	Unknown	—	ClinVar, GenCC	MAPK signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +9 more
INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 11	MONDO:0013658	EPB41L1	Unknown	21376300	ClinVar, GWAS catalog	Trafficking of AMPA receptors Neurexins and neuroligins
INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 3	MONDO:0012946	CDH15	Unknown	19012874 26506440	ClinVar, GWAS catalog	Cell adhesion molecules Adherens junctions interactions Myogenesis
INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 40	MONDO:0014699	CAMK2B	Unknown	25127391 29100089 29560374 32875707 33019657 33796307	GWAS catalog	ErbB signaling pathway Calcium signaling pathway cAMP signaling pathway +44 more
INTELLECTUAL IMPAIRMENT	C0683322	SCN2A	Unknown	—	Disgenet	Taste transduction Phase 0 - rapid depolarisation
MENTAL RETARDATION	C0025362	DOCK8	Unknown	—	Disgenet	Factors involved in megakaryocyte development and platelet production
		NAA15	Unknown	—	Disgenet	—
		SETBP1	Unknown	—	Disgenet	—
		STAG1	Unknown	—	Disgenet	Cell cycle Separation of Sister Chromatids Establishment of Sister Chromatid Cohesion +4 more
		SYNGAP1	Unknown	—	Disgenet	Ras signaling pathway Regulation of RAS by GAPs
MENTAL RETARDATION, AUTOSOMAL DOMINANT 1	MESH:C566947	MBD5	Unknown	—	CTD	Polycomb repressive complex UCH proteinases
MENTAL RETARDATION, AUTOSOMAL DOMINANT 3	C2675488 MESH:C567241	CDH15	Unknown	19012874 26506440	CTD, Disgenet	Cell adhesion molecules Adherens junctions interactions Myogenesis
MENTAL RETARDATION, AUTOSOMAL DOMINANT 5	MESH:C567234	SYNGAP1	Unknown	19196676 20188038 21237447 21480541 23033978 23141534 23161826 23708187 26079862 26110312 26989088 28576131 28721930 29381230 30556619 30572772 30685520 30800045 30875700 30901256 31302919 31395010 32472547 32913957 33639450 34573249 34856666 34924933	CTD	Ras signaling pathway Regulation of RAS by GAPs

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Intellectual developmental disorder

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