Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
INTELLECTUAL DISABILITY	C3714756 MESH:D008607	FTSJ1	Causal	—	Disgenet	tRNA modification in the nucleus and cytosol
		FXR1	Causal	—	Disgenet	Signaling by BRAF and RAF fusions
		GABBR1	Causal	—	Disgenet	cAMP signaling pathway Neuroactive ligand-receptor interaction GABAergic synapse +9 more
		GABBR2	Causal	—	Disgenet	cAMP signaling pathway Neuroactive ligand-receptor interaction GABAergic synapse +9 more
		GABRA1	Causal	—	Disgenet	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling GABAergic synapse +4 more
		GABRB2	Causal	—	Disgenet	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling Serotonergic synapse +4 more
		GABRB3	Causal	—	Disgenet	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling Serotonergic synapse +4 more
		GABRG2	Causal	—	Disgenet	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling GABAergic synapse +3 more
		GAMT	Causal	15651030	CTD	Glycine, serine and threonine metabolism Arginine and proline metabolism Metabolic pathways +1 more
		GAN	Causal	—	Disgenet	Neddylation Antigen processing: Ubiquitination & Proteasome degradation
		GARNL3	Causal	—	Disgenet	—
		GATAD2B	Causal	—	Disgenet	ATP-dependent chromatin remodeling HDACs deacetylate histones Regulation of TP53 Activity through Acetylation +2 more
		GDI1	Causal	—	Disgenet	Rho GTPase cycle RAB GEFs exchange GTP for GDP on RABs
		GJA1	Causal	—	Disgenet	Gap junction Arrhythmogenic right ventricular cardiomyopathy Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane +4 more
		GNAS	Causal	11583302	CTD, Disgenet	Endocrine resistance Rap1 signaling pathway Calcium signaling pathway +58 more
		GNB1	Causal	—	Disgenet	Ras signaling pathway Chemokine signaling pathway Hormone signaling +47 more
		GRAMD1B	Causal	—	Disgenet	—
		GRIA3	Causal	17989220	Disgenet	cAMP signaling pathway Neuroactive ligand-receptor interaction Circadian entrainment +15 more
		GRIA4	Causal	—	Disgenet	cAMP signaling pathway Neuroactive ligand-receptor interaction Circadian entrainment +12 more
		GRIK2	Causal	—	Disgenet	Neuroactive ligand-receptor interaction Glutamatergic synapse Activation of Na-permeable kainate receptors +1 more
		GRIN1	Causal	—	Disgenet	Ras signaling pathway Rap1 signaling pathway Calcium signaling pathway +20 more
		GRIN2A	Causal	—	Disgenet	Ras signaling pathway Rap1 signaling pathway Calcium signaling pathway +19 more
		GRIN2B	Causal	20890276	CTD, Disgenet	Ras signaling pathway Rap1 signaling pathway Calcium signaling pathway +22 more
		H3-3A	Causal	—	Disgenet	Neutrophil extracellular trap formation Alcoholism Shigellosis +18 more
		H3-3B	Causal	—	Disgenet	Neutrophil extracellular trap formation Alcoholism Shigellosis +18 more
		HDAC8	Causal	—	Disgenet	Cell cycle Neutrophil extracellular trap formation Alcoholism +7 more
		HEXA	Causal	21937992	CTD, Disgenet	Other glycan degradation Various types of N-glycan biosynthesis Amino sugar and nucleotide sugar metabolism +11 more
		HIVEP2	Causal	—	Disgenet	—
		HNRNPK	Causal	—	Disgenet	Spliceosome Viral carcinogenesis MicroRNAs in cancer +4 more
		HNRNPU	Causal	—	Disgenet	Spliceosome mRNA Splicing - Major Pathway Processing of Capped Intron-Containing Pre-mRNA
		HUWE1	Causal	—	Disgenet	Ubiquitin mediated proteolysis Mitophagy - animal Neutrophil degranulation +1 more
		IGF1R	Causal	—	Disgenet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +31 more
		IL1RAPL1	Causal	—	Disgenet	Receptor-type tyrosine-protein phosphatases Interleukin-38 signaling
		INO80	Causal	—	Disgenet	ATP-dependent chromatin remodeling UCH proteinases DNA Damage Recognition in GG-NER
		INPP4A	Causal	21937992	CTD, Disgenet	Inositol phosphate metabolism Metabolic pathways Phosphatidylinositol signaling system +3 more
		IQSEC2	Causal	20473311 21686261 23674175 24306141 26733290 26793055 27665735 28295038 28815955 29026562 30206421 30666632 30842726 31415821 31439632 31490346 31829726 32529990 32564198 32761587 33494955 34484768 35347702 35446980 36012761 36267700 36444437 36684544	Disgenet	Endocytosis
		ITPR1	Causal	—	Disgenet	Calcium signaling pathway cGMP-PKG signaling pathway Phosphatidylinositol signaling system +53 more
		JARID2	Causal	—	Disgenet	Polycomb repressive complex Signaling pathways regulating pluripotency of stem cells PRC2 methylates histones and DNA
		KANSL1	Causal	22544363 22544367	CTD, Disgenet	HATs acetylate histones
		KAT6A	Causal	25728775 25728777 27133397 28649320 29899504 30105118 30245513 30775047 31754438 32041641 33386251 33552646 33770237 34039162 34295791 34439586 34748993 34930245 35892268 36070007 36453964 36573038 36672906 36880793 37269490 38143025	Disgenet	Signaling pathways regulating pluripotency of stem cells HATs acetylate histones Regulation of TP53 Activity through Acetylation
		KAT6B	Causal	—	Disgenet	HATs acetylate histones
		KCNA2	Causal	25751627	CTD, Disgenet	Voltage gated Potassium channels
		KCNB1	Causal	—	Disgenet	Voltage gated Potassium channels Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
		KCND3	Causal	—	Disgenet	Spinocerebellar ataxia Voltage gated Potassium channels Phase 1 - inactivation of fast Na+ channels
		KCNK4	Causal	—	Disgenet	TWIK related potassium channel (TREK) Phase 4 - resting membrane potential
		KCNMA1	Causal	—	Disgenet	cGMP-PKG signaling pathway Vascular smooth muscle contraction Insulin secretion +4 more
		KCNN2	Causal	—	Disgenet	Serotonergic synapse Insulin secretion GnRH secretion +2 more
		KCNQ2	Causal	—	Disgenet	Cholinergic synapse Voltage gated Potassium channels
		KCNQ3	Causal	—	Disgenet	Cholinergic synapse Voltage gated Potassium channels
		KDM1A	Causal	—	Disgenet	Thermogenesis HDACs deacetylate histones HDMs demethylate histones +4 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 6	MONDO:0013509	GRIN2B	Causal	23160955 20890276 23033978 23718928 24272827 27605359 28377535 28734458 30151416 31085877	ClinVar, Disgenet	Ras signaling pathway Rap1 signaling pathway Calcium signaling pathway +22 more
INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 6	MONDO:0012614	GRIK2	Causal	17847003	ClinVar, Orphanet	Neuroactive ligand-receptor interaction Glutamatergic synapse Activation of Na-permeable kainate receptors +1 more

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Intellectual developmental disorder

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