Williams syndrome | Gene-Disease Associations & Pathways | GeDiPNet

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Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
WILLIAMS SYNDROME	904 C0175702 MESH:D018980 MONDO:0008678	ELN	Causal	20301427	CTD, ClinVar, Disgenet, Orphanet	Cytoskeleton in muscle cells Protein digestion and absorption Degradation of the extracellular matrix +2 more
		BAZ1B	Unknown	—	CTD, Disgenet, Orphanet	ATP-dependent chromatin remodeling B-WICH complex positively regulates rRNA expression Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
		BUD23	Unknown	22036171 17159124 21855841 12605447 30414627 21671373 32976914 33559318 30323018	Disgenet, Orphanet	rRNA modification in the nucleus and cytosol Major pathway of rRNA processing in the nucleolus and cytosol
		CLIP2	Unknown	19703992 22795537 24818805 25810209	Disgenet, Orphanet	—
		DLG4	Unknown	—	CTD, Disgenet	Hippo signaling pathway Glutamatergic synapse Huntington disease +10 more
		DNAJC30	Unknown	16448863 20301427	Disgenet, Orphanet	—
		EIF4H	Unknown	11978965	Disgenet, Orphanet	L13a-mediated translational silencing of Ceruloplasmin expression Translation initiation complex formation Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S +2 more
		FKBP6	Unknown	20952458	Disgenet, Orphanet	—
		FZD3	Unknown	—	Disgenet	mTOR signaling pathway Wnt signaling pathway Axon guidance +17 more
		GTF2I	Unknown	8812460	CTD, Disgenet, Orphanet	Basal transcription factors cGMP-PKG signaling pathway
		GTF2IRD1	Unknown	20301427	CTD, Disgenet, Orphanet	—
		GTF2IRD2	Unknown	9782077	Disgenet, Orphanet	—
		LAT2	Unknown	—	Disgenet	Natural killer cell mediated cytotoxicity Role of LAT2/NTAL/LAB on calcium mobilization
		LIMK1	Unknown	20007321 21328569 20301427	Disgenet, Orphanet	Axon guidance Fc gamma R-mediated phagocytosis Regulation of actin cytoskeleton +5 more
		METTL27	Unknown	20007321 20301427	Disgenet, Orphanet	—
		MLXIPL	Unknown	15243160	CTD, ClinVar, Disgenet	Insulin resistance Non-alcoholic fatty liver disease PKA-mediated phosphorylation of key metabolic factors +1 more
		NCF1	Unknown	—	Disgenet, Orphanet	Chemokine signaling pathway Phagosome Osteoclast differentiation +14 more
		RCC1L	Unknown	20301427	Disgenet	—
		RFC2	Unknown	18398435	Disgenet, Orphanet	DNA replication Base excision repair Nucleotide excision repair +21 more
		RNF157	Unknown	—	Disgenet	—
		STX1A	Unknown	9311751	Disgenet, Orphanet	SNARE interactions in vesicular transport Synaptic vesicle cycle Insulin secretion +13 more
		TBL2	Unknown	—	Disgenet, Orphanet	—
		TMEM270	Unknown	20301427	Disgenet, Orphanet	—
		VPS37D	Unknown	—	Disgenet, Orphanet	Endocytosis Budding and maturation of HIV virion Membrane binding and targetting of GAG proteins +2 more
WILLIAMS-BEUREN SYNDROME	194050	ELN	Unknown	9311751	HPO	Cytoskeleton in muscle cells Protein digestion and absorption Degradation of the extracellular matrix +2 more
WILLIAMS-BEUREN SYNDROME	194050	MLXIPL	Unknown	20301427	HPO	Insulin resistance Non-alcoholic fatty liver disease PKA-mediated phosphorylation of key metabolic factors +1 more