Angelman 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
ANGELMAN SYNDROME	C0162635 MESH:D017204 105830 MONDO:0007113	CDKL5	Causal	19241098	CTD, Disgenet	—
		GABRG3	Causal	—	Disgenet	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling GABAergic synapse +3 more
		MECP2	Causal	25212744 9585605 11283202	Disgenet	Transcriptional Regulation by MECP2 Loss of MECP2 binding ability to 5hmC-DNA Loss of MECP2 binding ability to 5mC-DNA +2 more
		TPP1	Causal	—	Disgenet	Lysosome XBP1(S) activates chaperone genes
		UBE3A	Causal	1338769 8988171 7905534 15878204	CTD, ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	Ubiquitin mediated proteolysis Human papillomavirus infection Viral carcinogenesis +1 more
		GABRB3	Unknown	15878204	CTD, Disgenet	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling Serotonergic synapse +4 more
		SNRPN	Unknown	—	CTD, ClinVar, Disgenet, HPO	mRNA Splicing - Major Pathway
		SNURF	Unknown	—	Disgenet	mRNA Splicing - Major Pathway
ANGELMAN SYNDROME DUE TO A POINT MUTATION	411511 C5681146	UBE3A	Unknown	20301323 22670133 24876791 25212744	Disgenet, Orphanet	Ubiquitin mediated proteolysis Human papillomavirus infection Viral carcinogenesis +1 more
ANGELMAN SYNDROME DUE TO IMPRINTING DEFECT IN 15Q11-Q13	411515 C5681834	ATP10A	Unknown	11326269 17347796	Disgenet, Orphanet	Ion transport by P-type ATPases
		SNRPN	Unknown	17347796 20301323 22670133 24876791 25212744	Disgenet, Orphanet	mRNA Splicing - Major Pathway
		UBE3A	Unknown	17347796 20301323 22670133 24876791 25212744	Disgenet, Orphanet	Ubiquitin mediated proteolysis Human papillomavirus infection Viral carcinogenesis +1 more
ANGELMAN SYNDROME DUE TO MATERNAL 15Q11Q13 DELETION	98794	OCA2	Unknown	10905897 20301323	Orphanet	Melanin biosynthesis
ANGELMAN SYNDROME DUE TO MATERNAL 15Q11Q13 DELETION	98794	UBE3A	Unknown	20301323 22670133 24876791 25212744	Orphanet	Ubiquitin mediated proteolysis Human papillomavirus infection Viral carcinogenesis +1 more
ANGELMAN SYNDROME DUE TO MATERNAL MONOSOMY 15Q11Q13	C5566334	OCA2	Unknown	—	Disgenet	Melanin biosynthesis
ANGELMAN SYNDROME DUE TO MATERNAL MONOSOMY 15Q11Q13	C5566334	UBE3A	Unknown	—	Disgenet	Ubiquitin mediated proteolysis Human papillomavirus infection Viral carcinogenesis +1 more
ANGELMAN SYNDROME DUE TO PATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 15	98795	UBE3A	Unknown	20301323 22670133 24876791 25212744	Orphanet, ClinGen	Ubiquitin mediated proteolysis Human papillomavirus infection Viral carcinogenesis +1 more
ANGELMAN SYNDROME-LIKE		CDKL5	Causal	—	ClinVar	—