Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
DEVELOPMENTAL DELAY	C0424605	ASXL1	Causal	—	Disgenet	Polycomb repressive complex UCH proteinases
DEVELOPMENTAL DELAY	C0424605	CDKL5	Causal	—	Disgenet	—
DEVELOPMENTAL DELAY	C0424605	GNAO1	Causal	—	Disgenet	Rap1 signaling pathway Hormone signaling Circadian entrainment +21 more
DEVELOPMENTAL DELAY	C0424605	GRIN2B	Causal	—	Disgenet	Ras signaling pathway Rap1 signaling pathway Calcium signaling pathway +22 more
DEVELOPMENTAL DELAY	C0424605	LMBRD2	Causal	—	Disgenet	—
DEVELOPMENTAL DELAY	C0424605	NCOR1	Causal	—	Disgenet	Endocrine resistance TGF-beta signaling pathway Thyroid hormone signaling pathway +16 more
DEVELOPMENTAL DELAY	C0424605	NUP214	Causal	29483668 30758658 31178128	Disgenet	Nucleocytoplasmic transport Amyotrophic lateral sclerosis ISG15 antiviral mechanism +26 more
DEVELOPMENTAL DELAY	C0424605	PARP10	Causal	—	Disgenet	Nicotinamide salvaging
DEVELOPMENTAL DELAY	C0424605	SCN3A	Causal	—	Disgenet	Taste transduction Phase 0 - rapid depolarisation
DEVELOPMENTAL DELAY	C0424605	SOX4	Causal	—	Disgenet	MicroRNAs in cancer Deactivation of the beta-catenin transactivating complex
DEVELOPMENTAL DELAY	C0424605	SRCAP	Causal	—	Disgenet	ATP-dependent chromatin remodeling
DEVELOPMENTAL DELAY	C0424605	TANC2	Causal	—	Disgenet	—
DEVELOPMENTAL DELAY	C0424605	TCF12	Causal	—	Disgenet	Myogenesis RUNX1 regulates transcription of genes involved in differentiation of HSCs NGF-stimulated transcription
DEVELOPMENTAL DELAY	C0424605	UBE3A	Causal	—	Disgenet	Ubiquitin mediated proteolysis Human papillomavirus infection Viral carcinogenesis +1 more
DEVELOPMENTAL DELAY	C0424605	WWOX	Causal	—	Disgenet	Nuclear signaling by ERBB4 Negative regulation of activity of TFAP2 (AP-2) family transcription factors Activation of the TFAP2 (AP-2) family of transcription factors
DEVELOPMENTAL DELAY	C0424605	ZBTB18	Causal	—	Disgenet	—
DEVELOPMENTAL DELAY	C0424605	BRWD3	Unknown	—	Disgenet	—
DEVELOPMENTAL DELAY	C0424605	CEP128	Unknown	—	Disgenet	—
DEVELOPMENTAL DELAY	C0424605	CHD8	Unknown	—	Disgenet	Wnt signaling pathway Deactivation of the beta-catenin transactivating complex
DEVELOPMENTAL DELAY	C0424605	COX3	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +12 more
DEVELOPMENTAL DELAY	C0424605	CYTB	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +11 more
DEVELOPMENTAL DELAY	C0424605	FBXW7	Unknown	—	Disgenet	Ubiquitin mediated proteolysis Constitutive Signaling by NOTCH1 PEST Domain Mutants Loss of Function of FBXW7 in Cancer and NOTCH1 Signaling +3 more
DEVELOPMENTAL DELAY	C0424605	FLNA	Unknown	—	Disgenet	MAPK signaling pathway Focal adhesion Salmonella infection +6 more
DEVELOPMENTAL DELAY	C0424605	FOXRED1	Unknown	—	Disgenet	—
DEVELOPMENTAL DELAY	C0424605	KAT6A	Unknown	—	Disgenet	Signaling pathways regulating pluripotency of stem cells HATs acetylate histones Regulation of TP53 Activity through Acetylation
DEVELOPMENTAL DELAY	C0424605	KAT6B	Unknown	—	Disgenet	HATs acetylate histones
DEVELOPMENTAL DELAY	C0424605	MED13L	Unknown	—	Disgenet	Thyroid hormone signaling pathway PPARA activates gene expression Transcriptional regulation of white adipocyte differentiation
DEVELOPMENTAL DELAY	C0424605	ND2	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Thermogenesis +11 more
DEVELOPMENTAL DELAY	C0424605	ND4	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Thermogenesis +11 more
DEVELOPMENTAL DELAY	C0424605	ND5	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Thermogenesis +11 more
DEVELOPMENTAL DELAY	C0424605	SETD1B	Unknown	—	Disgenet	Lysine degradation Metabolic pathways PKMTs methylate histone lysines +1 more
DEVELOPMENTAL DELAY	C0424605	SLC25A22	Unknown	—	Disgenet	Organic anion transporters
DEVELOPMENTAL DELAY	C0424605	TRIO	Unknown	—	Disgenet	NRAGE signals death through JNK Rho GTPase cycle G alpha (q) signalling events +2 more
DEVELOPMENTAL DELAY	C0424605	TSHR	Unknown	—	Disgenet	cAMP signaling pathway Neuroactive ligand-receptor interaction Hormone signaling +6 more
DEVELOPMENTAL DELAY	C0424605	USP9X	Unknown	—	Disgenet	Downregulation of SMAD2/3:SMAD4 transcriptional activity Ub-specific processing proteases Synthesis of active ubiquitin: roles of E1 and E2 enzymes +2 more
DEVELOPMENTAL DELAY	C0424605	VWA8	Unknown	—	Disgenet	—
DEVELOPMENTAL DELAY	C0424605	WARS1	Unknown	—	Disgenet	Aminoacyl-tRNA biosynthesis Cytosolic tRNA aminoacylation
DEVELOPMENTAL DELAY	C0424605	WDR37	Unknown	—	Disgenet	—

Developmental delay

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