Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
syndromic intellectual disability	MONDO_0044302 MONDO_0014558 MONDO_0000508 MONDO_0014946 MONDO_0032760	BRD4	Causal	—	ClinGen	—
		CDK13	Causal	27479907 28807008 29021403 29222009 29393965 31883531 35063350 35651941 36599938 37351084	ClinGen, Open Targets	TP53 Regulates Transcription of DNA Repair Genes Neutrophil degranulation
		KAT6A	Causal	25728775 25728777	ClinGen, Open Targets	Signaling pathways regulating pluripotency of stem cells HATs acetylate histones Regulation of TP53 Activity through Acetylation
		KIF1A	Causal	—	ClinGen	Motor proteins COPI-dependent Golgi-to-ER retrograde traffic Kinesins
		MTSS2	Causal	36067766	Open Targets	—
		NSD2	Causal	—	ClinGen	Lysine degradation Metabolic pathways Transcriptional misregulation in cancer +5 more
		PIGL	Causal	—	ClinGen	Glycosylphosphatidylinositol (GPI)-anchor biosynthesis Metabolic pathways Synthesis of glycosylphosphatidylinositol (GPI)
		ASXL2	Unknown	—	ClinGen	Polycomb repressive complex UCH proteinases
		ASXL3	Unknown	—	ClinGen	Polycomb repressive complex
		AUTS2	Unknown	23332918 23650183 24459036 25205402 25851617 26545289 27075013 27531620 31788251 33346930 33562463 33577136 34273950 34573342	ClinGen, Open Targets	Polycomb repressive complex RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
		BPTF	Unknown	—	ClinGen	ATP-dependent chromatin remodeling
		CCDC22	Unknown	24916641 36073196	Open Targets	Neddylation
		CDK8	Unknown	30905399	Open Targets	PPARA activates gene expression Generic Transcription Pathway SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription +3 more
		CDK9	Unknown	29302074 33640901 26633546 30237576	Open Targets	Viral life cycle - HIV-1 Transcriptional misregulation in cancer Formation of RNA Pol II elongation complex +8 more
		CHD4	Unknown	27479907 27616479 31388190 33423261 34109749	ClinGen, Open Targets	ATP-dependent chromatin remodeling Human papillomavirus infection Viral carcinogenesis +5 more
		CRADD	Unknown	—	ClinGen	TP53 Regulates Transcription of Caspase Activators and Caspases
		CSNK2A1	Unknown	—	ClinGen	Ribosome biogenesis in eukaryotes NF-kappa B signaling pathway Mitophagy - animal +16 more
		CTCF	Unknown	—	ClinGen	—
		EIF3F	Unknown	—	ClinGen	L13a-mediated translational silencing of Ceruloplasmin expression Translation initiation complex formation Formation of a pool of free 40S subunits +3 more
		FAM149B1	Unknown	30905400	Open Targets	—
		FBXW11	Unknown	31402090	Open Targets	Oocyte meiosis Ubiquitin mediated proteolysis Cellular senescence +16 more
		GNAI2	Unknown	27787898 31036916 39298586	Open Targets	Rap1 signaling pathway cGMP-PKG signaling pathway cAMP signaling pathway +47 more
		H1-4	Unknown	—	ClinGen	Apoptosis induced DNA fragmentation Formation of Senescence-Associated Heterochromatin Foci (SAHF)
		HNRNPH1	Unknown	—	ClinGen	FGFR2 alternative splicing mRNA Splicing - Major Pathway Processing of Capped Intron-Containing Pre-mRNA
		HNRNPR	Unknown	—	ClinGen	mRNA Splicing - Major Pathway Processing of Capped Intron-Containing Pre-mRNA
		HOXA1	Unknown	—	ClinGen	Signaling pathways regulating pluripotency of stem cells
		KDM3B	Unknown	—	ClinGen	Thermogenesis HDMs demethylate histones
		KDM6B	Unknown	—	ClinGen	Oxidative Stress Induced Senescence HDMs demethylate histones
		KMT2C	Unknown	—	ClinGen	Lysine degradation Metabolic pathways PKMTs methylate histone lysines +1 more
		MED13L	Unknown	—	ClinGen	Thyroid hormone signaling pathway PPARA activates gene expression Transcriptional regulation of white adipocyte differentiation
		MED23	Unknown	—	ClinGen	PPARA activates gene expression Generic Transcription Pathway Transcriptional regulation of white adipocyte differentiation
		MED25	Unknown	30800049 25792360 25527630	Open Targets	PPARA activates gene expression Generic Transcription Pathway Transcriptional regulation of white adipocyte differentiation
		MEIS2	Unknown	—	ClinGen	—
		NAA15	Unknown	—	ClinGen	—
		NAA20	Unknown	—	ClinGen	—
		NONO	Unknown	26571461 27329731 36426740 27550220	Open Targets	—
		NSUN2	Unknown	—	ClinGen	tRNA modification in the nucleus and cytosol
		OTUD6B	Unknown	—	ClinGen	—
		POLR2A	Unknown	31353023 33665635 35461703	Open Targets	RNA polymerase Nucleotide excision repair Huntington disease +25 more
		PPM1D	Unknown	—	ClinGen	p53 signaling pathway Transcriptional regulation by RUNX2
		PUF60	Unknown	27804958 24140112 28327570	ClinGen	Spliceosome mRNA Splicing - Major Pathway
		RAC1	Unknown	—	ClinGen	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +89 more
		RAP1B	Unknown	32627184 26280580 35451551	Open Targets	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +25 more
		SIN3A	Unknown	27399968 30267900 33437032 25529582 28135719	Open Targets	TGF-beta signaling pathway Thyroid hormone signaling pathway Huntington disease +7 more
		SMARCD1	Unknown	30879640 38114583 39389935	Open Targets	ATP-dependent chromatin remodeling Thermogenesis Hepatocellular carcinoma +2 more
		SOBP	Unknown	—	ClinGen	—
		STAG1	Unknown	28119487 30158690	Open Targets	Cell cycle Separation of Sister Chromatids Establishment of Sister Chromatid Cohesion +4 more
		TAOK1	Unknown	—	ClinGen	MAPK signaling pathway Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal Separation of Sister Chromatids +4 more
		TRIO	Unknown	—	ClinGen	NRAGE signals death through JNK Rho GTPase cycle G alpha (q) signalling events +2 more
		TRRAP	Unknown	30424743 30827496	Open Targets	ATP-dependent chromatin remodeling Human T-cell leukemia virus 1 infection Formation of the beta-catenin:TCF transactivating complex +1 more

Syndromic intellectual disability

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