eDiPNet

Subtype of: Intellectual disability

Include the contents of this disease's 10 subtypes in the table below

Show the subtypes

Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
syndromic intellectual disability	MONDO_0044302 MONDO_0014558 MONDO_0000508	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)

Syndromic intellectual disability