syndromic intellectual disability | Gene-Disease Associations & Pathways | GeDiPNet

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Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
syndromic intellectual disability		BRD4	Causal	—	ClinGen	—
		CDK13	Causal	—	ClinGen	TP53 Regulates Transcription of DNA Repair Genes Neutrophil degranulation
		KAT6A	Causal	—	ClinGen	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
		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	Polycomb repressive complex RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
		BPTF	Unknown	—	ClinGen	ATP-dependent chromatin remodeling
		CHD4	Unknown	—	ClinGen	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
		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
		MEIS2	Unknown	—	ClinGen	—
		NAA15	Unknown	—	ClinGen	—
		NAA20	Unknown	—	ClinGen	—
		NSUN2	Unknown	—	ClinGen	tRNA modification in the nucleus and cytosol
		OTUD6B	Unknown	—	ClinGen	—
		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
		SOBP	Unknown	—	ClinGen	—
		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
		WDFY3	Unknown	—	ClinGen	Autophagy - animal