Prader-willi 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
PRADER-WILLI SYNDROME	176270 C0032897 MESH:D011218 MONDO:0008300	HERC2	Causal	—	CTD, ClinVar, Disgenet, HPO	Ubiquitin mediated proteolysis SUMOylation of DNA damage response and repair proteins Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks +4 more
		MAGEL2	Causal	24076603	CTD, ClinVar, Disgenet, HPO	—
		-	Unknown	—	HPO	—
		MKRN3	Unknown	—	CTD, ClinVar, Disgenet, HPO	—
		NDN	Unknown	—	Disgenet	Interleukin-4 and Interleukin-13 signaling
		NPAP1	Unknown	—	CTD, ClinVar, HPO	—
		SNRPN	Unknown	8723064 28554868	Disgenet, GWAS catalog	mRNA Splicing - Major Pathway
PRADER-WILLI SYNDROME DUE TO IMPRINTING MUTATION	177910 C5680510	MAGEL2	Unknown	20301505	Disgenet, Orphanet	—
		NDN	Unknown	24039599	Disgenet, Orphanet	Interleukin-4 and Interleukin-13 signaling
		SNRPN	Unknown	9634532	Disgenet, Orphanet	mRNA Splicing - Major Pathway
PRADER-WILLI SYNDROME DUE TO MATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 15	98754	MAGEL2	Unknown	20301505	Orphanet	—
		NDN	Unknown	20301505	Orphanet	Interleukin-4 and Interleukin-13 signaling
		OCA2	Unknown	20301505	Orphanet	Melanin biosynthesis
		SNRPN	Unknown	20301505	Orphanet	mRNA Splicing - Major Pathway
PRADER-WILLI SYNDROME DUE TO PATERNAL DELETION OF 15Q11Q13 TYPE 1	177901 C5680507	MAGEL2	Unknown	20301505	Disgenet, Orphanet	—
		NDN	Unknown	20301505	Disgenet, Orphanet	Interleukin-4 and Interleukin-13 signaling
		OCA2	Unknown	20301505	Disgenet, Orphanet	Melanin biosynthesis
		SNRPN	Unknown	20301505	Disgenet, Orphanet	mRNA Splicing - Major Pathway
PRADER-WILLI SYNDROME DUE TO PATERNAL DELETION OF 15Q11Q13 TYPE 2	177904 C5680508	MAGEL2	Unknown	20301505	Disgenet, Orphanet	—
		NDN	Unknown	20301505	Disgenet, Orphanet	Interleukin-4 and Interleukin-13 signaling
		OCA2	Unknown	20301505	Disgenet, Orphanet	Melanin biosynthesis
		SNRPN	Unknown	20301505	Disgenet, Orphanet	mRNA Splicing - Major Pathway
PRADER-WILLI SYNDROME DUE TO TRANSLOCATION	177907 C5680509	SNRPN	Unknown	11159938 12154412 8845846	Disgenet, Orphanet	mRNA Splicing - Major Pathway
PRADER-WILLI-LIKE SYNDROME	C3809877	MAGEL2	Causal	—	Disgenet	—