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 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 64	C5543067 619188 MONDO:0030934	MLIP	Causal	—	Disgenet	—
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64	C5543067 619188 MONDO:0030934	ZNF292	Causal	22495311 25849321 27824329 28191890 29158550 29904178 30564305 31723249	ClinVar, Disgenet, GWAS catalog, HPO	—
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65	619320 C5543371 MONDO:0023657	KDM4B	Causal	27257017 28407358 29844188 33232677	ClinGen, ClinVar, Disgenet, HPO	HDMs demethylate histones Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks Estrogen-dependent gene expression
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 DOMINANT 67	619927 C5677006 MONDO:0030964	GRIA1	Causal	35675825	ClinVar, Disgenet, GWAS catalog, HPO	cAMP signaling pathway Neuroactive ligand-receptor interaction Circadian entrainment +18 more
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 68	619934 C5677008 MONDO:0030969	KMT2B	Causal	25405613	ClinVar, Disgenet, GWAS catalog, HPO	Lysine degradation Metabolic pathways PKMTs methylate histone lysines +1 more
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 69	617863 C5676896 MONDO:0029465	LMAN2L	Causal	31020005	ClinVar, Disgenet, HPO	COPII-mediated vesicle transport Cargo concentration in the ER
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 70	620157 C5774271 MONDO:0859333	SETD2	Causal	—	ClinVar, Disgenet, GenCC, HPO	Lysine degradation Metabolic pathways PKMTs methylate histone lysines
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES	620330 C5830437 MONDO:0957228	RFX7	Causal	25363768 28135719 28191890 29717269 33658631	ClinVar, Disgenet, GWAS catalog, HPO	—
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 72	620439 C5830612 MONDO:0957397	SRRM2	Causal	—	ClinVar, Disgenet, GenCC, HPO	mRNA Splicing - Major Pathway
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73	620450 C5830636 MONDO:0957536	TAF4	Causal	28191890 33875846 35904126	ClinVar, Disgenet, GWAS catalog, HPO	Basal transcription factors Huntington disease RNA Polymerase II Pre-transcription Events +5 more
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 74	620688 C5882749 MONDO:0958203	HNRNPC	Causal	—	ClinVar, Disgenet, HPO	Spliceosome SUMOylation of RNA binding proteins mRNA Splicing - Major Pathway +1 more
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 75	620988 MONDO:0975838	DHX9	Causal	37467750	ClinVar, GWAS catalog, HPO	RIP-mediated NFkB activation via ZBP1 DEx/H-box helicases activate type I IFN and inflammatory cytokines production mRNA Splicing - Major Pathway
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 76	621285	MARK2	Causal	—	ClinVar	—
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 67	618295 C4749019 MONDO:0032662	EIF3F	Causal	30409806	ClinVar, Disgenet, GWAS catalog, HPO	L13a-mediated translational silencing of Ceruloplasmin expression Translation initiation complex formation Formation of a pool of free 40S subunits +3 more
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68	618302 C4749033 MONDO:0032665	TRMT1	Causal	—	ClinVar, Disgenet, GenCC, HPO	tRNA modification in the nucleus and cytosol
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 69	C5193067 MONDO:0032715	ZBTB11	Causal	29893856	ClinVar, Disgenet, GWAS catalog	—
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 70	618402 C5193077 MONDO:0032729	RSRC1	Causal	32227164 29522154 28640246	ClinVar, Disgenet, GWAS catalog, HPO	—
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 71	618504 C5193133 MONDO:0032789	ALKBH8	Causal	34757492 33544954 31079898	ClinVar, Disgenet, GWAS catalog, HPO	—
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72	618665 C5231452 MONDO:0032860	METTL5	Causal	27457812 28097321 28940097	ClinVar, Disgenet, GWAS catalog, HPO	—
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73	619717 C5676902 MONDO:0030533	NAA20	Causal	34230638	ClinVar, Disgenet, GWAS catalog, HPO	—
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 74	617169 C4310684 MONDO:0014951	APC2	Causal	25753423	ClinVar, Disgenet, GWAS catalog, HPO	Wnt signaling pathway Hippo signaling pathway Signaling pathways regulating pluripotency of stem cells +13 more
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY	619827 C5676961 MONDO:0030785	PIDD1	Causal	28397838 29302074 33414379 34163010	ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	NF-kappa B signaling pathway p53 signaling pathway Apoptosis +1 more
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 76	619931 C5677007 MONDO:0030968	GRIA1	Causal	—	ClinVar, Disgenet, GenCC, HPO	cAMP signaling pathway Neuroactive ligand-receptor interaction Circadian entrainment +18 more
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 77	619988 C5774193 MONDO:0031031	CEP104	Causal	—	ClinVar, Disgenet, HPO	—
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 78	620237 C5830269 MONDO:0859373	WDR11	Causal	34413497	ClinVar, Disgenet, GWAS catalog, HPO	—
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 80, WITH VARIANT LISSENCEPHALY	620653 C5882733 MONDO:0957999	CASP2	Causal	21937992 37880421	ClinVar, Disgenet, GWAS catalog, HPO	Apoptosis NOD1/2 Signaling Pathway NADE modulates death signalling +1 more
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81	620700 C5882758 MONDO:0958204	ASCC3	Causal	21937992	ClinVar, Disgenet, GWAS catalog, HPO	ALKBH3 mediated reversal of alkylation damage
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 82	620779 C5935601 MONDO:0968944	NSUN6	Causal	—	ClinVar, Disgenet, HPO	tRNA modification in the nucleus and cytosol
INTELLECTUAL DISABILITY	C3714756 MESH:D008607 MONDO:0001071	ACBD6	Causal	21937992	CTD, Disgenet, GenCC	Mitochondrial Fatty Acid Beta-Oxidation
		ACSL4	Causal	—	Disgenet	Fatty acid biosynthesis Fatty acid degradation Metabolic pathways +8 more
		ACTB	Causal	—	Disgenet	ATP-dependent chromatin remodeling Rap1 signaling pathway Phagosome +54 more
		ACTL6B	Causal	—	Disgenet	ATP-dependent chromatin remodeling Thermogenesis Hepatocellular carcinoma +2 more
		ADGRL1	Causal	—	Disgenet	—
		ADNP	Causal	—	Disgenet	—
		AFF2	Causal	—	Disgenet	—
		AFG3L2	Causal	—	Disgenet	Spinocerebellar ataxia Processing of SMDT1
		AGO1	Causal	—	Disgenet	Pre-NOTCH Transcription and Translation MicroRNA (miRNA) biogenesis Oxidative Stress Induced Senescence +15 more
		AGPAT3	Causal	—	Disgenet	Glycerolipid metabolism Glycerophospholipid metabolism Metabolic pathways +3 more
		AHDC1	Causal	—	Disgenet	—
		ALDH18A1	Causal	—	Disgenet	Arginine and proline metabolism Metabolic pathways Biosynthesis of amino acids +1 more
		ALG13	Causal	—	Disgenet	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +2 more
		ALMS1	Causal	—	Disgenet	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +4 more
		ANKLE2	Causal	—	Disgenet	Initiation of Nuclear Envelope (NE) Reformation
		ANKRD11	Causal	—	Disgenet	—
		ANKRD17	Causal	—	Disgenet	—
		AP4B1	Causal	—	Disgenet	Lysosome Lysosome Vesicle Biogenesis Golgi Associated Vesicle Biogenesis
		DLG4	Causal	—	Disgenet	Hippo signaling pathway Glutamatergic synapse Huntington disease +10 more
		EIF3F	Causal	—	Disgenet	L13a-mediated translational silencing of Ceruloplasmin expression Translation initiation complex formation Formation of a pool of free 40S subunits +3 more
		GRIA1	Causal	—	Disgenet	cAMP signaling pathway Neuroactive ligand-receptor interaction Circadian entrainment +18 more
		MARK2	Causal	—	Disgenet	—
		PIDD1	Causal	—	Disgenet	NF-kappa B signaling pathway p53 signaling pathway Apoptosis +1 more
		SETD2	Causal	—	Disgenet	Lysine degradation Metabolic pathways PKMTs methylate histone lysines
		TRIO	Causal	—	Disgenet	NRAGE signals death through JNK Rho GTPase cycle G alpha (q) signalling events +2 more
		ZNF292	Causal	—	Disgenet	—
INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 52	MONDO:0014815	LMAN2L	Causal	—	ClinVar, GenCC	COPII-mediated vesicle transport Cargo concentration in the ER

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Intellectual developmental disorder

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