Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
INTELLECTUAL DEVELOPMENTAL DISORDER 59	MONDO:0032795	CAMK2G	Causal	30184290 23033978	ClinGen, ClinVar, GWAS catalog	ErbB signaling pathway Calcium signaling pathway cAMP signaling pathway +44 more
INTELLECTUAL DEVELOPMENTAL DISORDER 61	MONDO:0032485	MED13	Causal	—	ClinVar, GenCC	Thyroid hormone signaling pathway PPARA activates gene expression Generic Transcription Pathway +1 more
INTELLECTUAL DEVELOPMENTAL DISORDER 62	MONDO:0032919	DLG4	Causal	—	ClinVar, GenCC	Hippo signaling pathway Glutamatergic synapse Huntington disease +10 more
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 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 DOMINANT 59	618522 C5193190	CAMK2G	Unknown	23033978 30184290	Disgenet, HPO	ErbB signaling pathway Calcium signaling pathway cAMP signaling pathway +44 more
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61	618009 C5231400	MED13	Unknown	—	Disgenet, HPO	Thyroid hormone signaling pathway PPARA activates gene expression Generic Transcription Pathway +1 more
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62	618793 C5394083	DLG4	Unknown	—	Disgenet, HPO	Hippo signaling pathway Glutamatergic synapse Huntington disease +10 more
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY	618825 C5394205 MONDO:0032939	TRIO	Causal	26235986 27418539 32109419 28928363	ClinVar, Disgenet, GWAS catalog, HPO	NRAGE signals death through JNK Rho GTPase cycle G alpha (q) signalling events +2 more
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 66	619910 C5677000 MONDO:0030891	ATP2B1	Causal	15178683 28135719 28191890 31785789 33077954 35358416	ClinVar, Disgenet, GWAS catalog, HPO	Calcium signaling pathway cGMP-PKG signaling pathway cAMP signaling pathway +9 more
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 5	C1970199	SYNGAP1	Unknown	—	Disgenet	Ras signaling pathway Regulation of RAS by GAPs
INTELLECTUAL DISABILITY	C3714756 MESH:D008607 MONDO:0001071	AUTS2	Causal	—	Disgenet	Polycomb repressive complex RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
		BCL11A	Causal	—	Disgenet	—
		CTCF	Causal	—	Disgenet	—
		DLG4	Causal	—	Disgenet	Hippo signaling pathway Glutamatergic synapse Huntington disease +10 more
		EEF1A2	Causal	—	Disgenet	Nucleocytoplasmic transport Legionellosis Leishmaniasis
		GNB1	Causal	—	Disgenet	Ras signaling pathway Chemokine signaling pathway Hormone signaling +47 more
		GRIN2A	Causal	—	Disgenet	Ras signaling pathway Rap1 signaling pathway Calcium signaling pathway +19 more
		HIVEP2	Causal	—	Disgenet	—
		KMT2D	Causal	—	Disgenet	Lysine degradation Metabolic pathways Cushing syndrome +4 more
		KMT5B	Causal	—	Disgenet	Lysine degradation Metabolic pathways PKMTs methylate histone lysines
		MBD5	Causal	—	Disgenet	Polycomb repressive complex UCH proteinases
		MYT1L	Causal	—	Disgenet	—
		NAA15	Causal	28191889	CTD, Disgenet	—
		SCN2A	Causal	30062040	Disgenet	Taste transduction Phase 0 - rapid depolarisation
		SETBP1	Causal	20436468 25217958	CTD, Disgenet	—
		SETD5	Causal	24680889 25138099 27375234 28263952 28549204 28881385 28905509 31656537 34169511 35132768 36335838 37797428	Disgenet	—
		SMARCA2	Causal	—	Disgenet	ATP-dependent chromatin remodeling Thermogenesis Hepatocellular carcinoma +2 more
		SYNGAP1	Causal	21076407	CTD, Disgenet	Ras signaling pathway Regulation of RAS by GAPs
		TBL1XR1	Causal	—	Disgenet	Wnt signaling pathway RORA activates gene expression PPARA activates gene expression +11 more
		TRIO	Causal	—	Disgenet	NRAGE signals death through JNK Rho GTPase cycle G alpha (q) signalling events +2 more
		ZBTB18	Causal	—	Disgenet	—
		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 1	MONDO:0007974	MBD5	Causal	23422940 23587880	ClinVar, GWAS catalog	Polycomb repressive complex UCH proteinases
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 22	MONDO:0012869	ZBTB18	Causal	22095278 23020937 24193349 25613900 26740508 27598823	ClinVar, GWAS catalog	—
INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 29	MONDO:0014482	SETBP1	Causal	—	ClinVar, GenCC	—
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 30	MONDO:0014486	ZMYND11	Causal	—	ClinVar, GenCC	—
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 38	MONDO:0014617	EEF1A2	Causal	—	ClinVar	Nucleocytoplasmic transport Legionellosis Leishmaniasis
INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 39	MONDO:0014678	MYT1L	Causal	28859103 34748075 32065501 33622623 30796847	ClinVar, GWAS catalog	—
INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 41	MONDO:0014842	TBL1XR1	Causal	23160955 25425123 29777588 25102098 32524419 35611576 37171308 37683765	ClinVar	Wnt signaling pathway RORA activates gene expression PPARA activates gene expression +11 more
INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 42	MONDO:0014855	GNB1	Causal	27108799 28087732 30194818 36405774	ClinGen, ClinVar, GWAS catalog	Ras signaling pathway Chemokine signaling pathway Hormone signaling +47 more
INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 43	MONDO:0014858	HIVEP2	Causal	27003583 26153216	ClinVar, GWAS catalog	—
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 5	MONDO:0012960	SYNGAP1	Causal	23708187 21237447 19196676 23141534 23033978 23161826 31395010 30800045 30685520 30572772 30556619 29381230 28721930 28576131 26989088 26110312 26079862 20188038 21480541 30875700 30901256 31302919 32472547 32913957 33639450 34573	ClinVar, GWAS catalog	Ras signaling pathway Regulation of RAS by GAPs
INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 50	MONDO:0030916	NAA15	Causal	—	ClinVar, GenCC	—
INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 51	MONDO:0030917	KMT5B	Causal	29276005 28135719	ClinVar, GWAS catalog	Lysine degradation Metabolic pathways PKMTs methylate histone lysines
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 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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