Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
ANGELMAN SYNDROME	C0162635 MESH:D017204 105830 MONDO:0007113	CDKL5	Causal	19241098	CTD Disgenet
		GABRG3	Causal	—	Disgenet
		MECP2	Causal	—	Disgenet
		TPP1	Causal	—	Disgenet
		UBE3A	Causal	1338769 8988171 7905534 15878204	CTD ClinGen ClinVar Disgenet GWAS catalog HPO
		GABRB3	Unknown	15878204	CTD Disgenet
		SNRPN	Unknown	—	CTD ClinVar Disgenet HPO
		SNURF	Unknown	—	Disgenet
ANGELMAN SYNDROME DUE TO A POINT MUTATION	411511 C5681146	UBE3A	Unknown	20301323 22670133 24876791 25212744	Disgenet Orphanet
ANGELMAN SYNDROME DUE TO IMPRINTING DEFECT IN 15Q11-Q13	411515 C5681834	ATP10A	Unknown	11326269 17347796	Disgenet Orphanet
		SNRPN	Unknown	17347796 20301323 22670133 24876791 25212744	Disgenet Orphanet
		UBE3A	Unknown	17347796 20301323 22670133 24876791 25212744	Disgenet Orphanet
ANGELMAN SYNDROME DUE TO MATERNAL 15Q11Q13 DELETION	98794	OCA2	Unknown	10905897 20301323	Orphanet
ANGELMAN SYNDROME DUE TO MATERNAL 15Q11Q13 DELETION	98794	UBE3A	Unknown	20301323 22670133 24876791 25212744	Orphanet
ANGELMAN SYNDROME DUE TO MATERNAL MONOSOMY 15Q11Q13	C5566334	OCA2	Unknown	—	Disgenet
ANGELMAN SYNDROME DUE TO MATERNAL MONOSOMY 15Q11Q13	C5566334	UBE3A	Unknown	—	Disgenet
ANGELMAN SYNDROME DUE TO PATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 15	98795	UBE3A	Unknown	20301323 22670133 24876791 25212744	Orphanet
ANGELMAN SYNDROME-LIKE		CDKL5	Causal	—	ClinVar

Angelman syndrome