Prader-willi syndrome
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 |