Developmental delay | Gene-Disease Associations & Pathways | GeDiPNet

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Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
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	—