Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
INTELLECTUAL DISABILITY	C3714756 MONDO:0001071 MESH:D008607	CLCN4	Causal	—	Disgenet	Neutrophil extracellular trap formation Stimuli-sensing channels
		CLTC	Causal	—	Disgenet	Lysosome Endocytosis Synaptic vesicle cycle +18 more
		CNKSR2	Causal	—	Disgenet	MAP2K and MAPK activation Signaling by moderate kinase activity BRAF mutants Signaling by high-kinase activity BRAF mutants +3 more
		CNOT1	Causal	—	Disgenet	RNA degradation Deadenylation of mRNA TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain
		CNTNAP2	Causal	—	Disgenet	Cell adhesion molecules
		COG6	Causal	—	Disgenet	COPI-mediated anterograde transport Intra-Golgi traffic Retrograde transport at the Trans-Golgi-Network
		COL4A2	Causal	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +20 more
		COL9A2	Causal	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +10 more
		CRADD	Causal	—	Disgenet	TP53 Regulates Transcription of Caspase Activators and Caspases
		CREBBP	Causal	—	Disgenet	Polycomb repressive complex Viral life cycle - HIV-1 cAMP signaling pathway +52 more
		CSNK2A1	Causal	—	Disgenet	Ribosome biogenesis in eukaryotes NF-kappa B signaling pathway Mitophagy - animal +16 more
		CSNK2B	Causal	—	Disgenet	Ribosome biogenesis in eukaryotes Polycomb repressive complex NF-kappa B signaling pathway +18 more
		CTBP1	Causal	—	Disgenet	Wnt signaling pathway Notch signaling pathway Pathways in cancer +5 more
		CTCF	Causal	—	Disgenet	—
		CTNNB1	Causal	24614104 25326669 26968164 27915094 28514307 30929091 35880249	Disgenet	Rap1 signaling pathway Wnt signaling pathway Hippo signaling pathway +51 more
		CUL3	Causal	—	Disgenet	Ubiquitin mediated proteolysis Hedgehog signaling pathway Degradation of DVL +4 more
		CUL4B	Causal	—	Disgenet	Nucleotide excision repair Ubiquitin mediated proteolysis Human immunodeficiency virus 1 infection +9 more
		CWF19L1	Causal	—	Disgenet	—
		CYFIP2	Causal	—	Disgenet	Regulation of actin cytoskeleton Pathogenic Escherichia coli infection Salmonella infection +4 more
		CYP27A1	Causal	—	Disgenet	Primary bile acid biosynthesis Metabolic pathways PPAR signaling pathway +6 more
		CYP2U1	Causal	—	Disgenet	Fatty acid degradation Arachidonic acid metabolism Metabolic pathways +3 more
		DDX3X	Causal	26235985 29490693 30734472	Disgenet	RIG-I-like receptor signaling pathway Hepatitis B Viral carcinogenesis +1 more
		DDX54	Causal	—	Disgenet	—
		DEPDC5	Causal	—	Disgenet	mTOR signaling pathway Amino acids regulate mTORC1
		DHX16	Causal	—	Disgenet	Spliceosome mRNA Splicing - Major Pathway
		DHX30	Causal	—	Disgenet	—
		DHX34	Causal	31256877	CTD, Disgenet	—
		DHX37	Causal	—	Disgenet	Major pathway of rRNA processing in the nucleolus and cytosol
		DLG3	Causal	—	Disgenet	Hippo signaling pathway Tight junction Human papillomavirus infection +5 more
		DMAP1	Causal	—	Disgenet	ATP-dependent chromatin remodeling
		DNMT3A	Causal	24614070	CTD, Disgenet	Cysteine and methionine metabolism Metabolic pathways Efferocytosis +3 more
		DSG2	Causal	—	Disgenet	Cytoskeleton in muscle cells Arrhythmogenic right ventricular cardiomyopathy Apoptotic cleavage of cell adhesion proteins +2 more
		DYNC1H1	Causal	21076407	CTD, Disgenet	Phagosome Motor proteins Vasopressin-regulated water reabsorption +21 more
		DYRK1A	Causal	—	Disgenet	G0 and Early G1
		EBF3	Causal	—	Disgenet	—
		EEF1A2	Causal	—	Disgenet	Nucleocytoplasmic transport Legionellosis Leishmaniasis
		EEF1B2	Causal	21937992	CTD, Disgenet	Eukaryotic Translation Elongation
		EHMT1	Causal	—	Disgenet	Lysine degradation Metabolic pathways Longevity regulating pathway +5 more
		EI24	Causal	—	Disgenet	p53 signaling pathway
		EMC10	Causal	—	Disgenet	—
		EP300	Causal	—	Disgenet	Polycomb repressive complex Viral life cycle - HIV-1 cAMP signaling pathway +66 more
		EPRS1	Causal	—	Disgenet	Porphyrin metabolism Aminoacyl-tRNA biosynthesis Metabolic pathways +2 more
		FAM177A1	Causal	—	Disgenet	—
		FAM50A	Causal	—	Disgenet	—
		FBXO11	Causal	—	Disgenet	Neddylation Antigen processing: Ubiquitination & Proteasome degradation
		FERRY3	Causal	—	Disgenet	—
		FGD1	Causal	—	Disgenet	Regulation of actin cytoskeleton NRAGE signals death through JNK Rho GTPase cycle +1 more
		FMR1	Causal	15000256 20425835	CTD, Disgenet	—
		FOXG1	Causal	18627055	CTD, Disgenet	FoxO signaling pathway FOXO-mediated transcription of cell cycle genes
		FOXP1	Causal	—	Disgenet	MicroRNAs in cancer Transcriptional regulation of pluripotent stem cells
INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 13	MONDO:0013805	DYNC1H1	Causal	28193117 27331017 25609763 24307404 22368300 27754416 28395088 34092403 34786417 34803881 35099838 36175372 36636459 37181555 37903666	ClinVar, GWAS catalog	Phagosome Motor proteins Vasopressin-regulated water reabsorption +21 more
INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 38	MONDO:0014617	EEF1A2	Causal	—	ClinVar	Nucleocytoplasmic transport Legionellosis Leishmaniasis
INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 56	MONDO:0030922	CLTC	Causal	26795593 26822784 27479843 29100083	ClinVar, GWAS catalog	Lysosome Endocytosis Synaptic vesicle cycle +18 more
INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 34	MONDO:0013785	CRADD	Causal	22279524 27773430 28686357 30167849 30914828	ClinVar, GWAS catalog	TP53 Regulates Transcription of Caspase Activators and Caspases
INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 66	MONDO:0032605	FERRY3	Causal	25558065 27311568 28097321	ClinVar, GWAS catalog	—

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Intellectual developmental disorder

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