Disease Term Disease ID Gene Symbol References
Prader-Willi Syndrome C0032897 IPW
NDN
SNRPN 8723064
MKRN3
HERC2
MKRN3-AS1
NPAP1
MAGEL2 29588991, 24076603
MRAP2 26795956
PWAR1
SNORD115-1
PWRN1
SNORD116-1
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 177901 SNRPN
MAGEL2
NDN
OCA2
SNORD116@
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 177904 SNRPN
MAGEL2
NDN
OCA2
SNORD116@
Prader-Willi syndrome due to translocation 177907 SNRPN
Prader-Willi syndrome due to imprinting mutation 177910 SNRPN
MAGEL2
NDN
SNORD116@
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 98754 SNRPN
MAGEL2
NDN
OCA2