Niemann-pick disease

Disease Term Disease ID Gene Symbol References
Niemann-Pick disease type A 77292 SMPD1
Niemann-Pick disease type B 77293 SMPD1
Niemann-Pick disease type C, adult neurologic onset 216986 NPC1
NPC2
Niemann-Pick disease type C, juvenile neurologic onset 216981 NPC1
NPC2
Niemann-Pick disease type C, late infantile neurologic onset 216978 NPC1
NPC2
Niemann-Pick disease type C, severe early infantile neurologic onset 216975 NPC1
NPC2
Niemann-Pick disease type C, severe perinatal form 216972 NPC1
NPC2
Niemann-Pick Disease, Type A C0268242 SMPD1 22818240, 12712061, 1391960, 8053910, 26913189, 8693491, 27338287, 16264060, 22796693, 15221801, 28600779, 15612058, 12369017, 17360762, 15877209, 27238910, 12694237, 17011332, 7762557, 23430949, 16151905, 21098024, 26084044, 1618760, 24446175, 8407868, 18815062, 16642440, 19405096, 27604308, 16434659, 20386867, 16010684, 23188845, 15545621, 26499107, 23252888, 25834946, 2023926, 1840600, 8664904, 1885770, 23356216, 10694919, 9266408, 8680412, 14681755, 17876723, 24767253, 12556236, 1718266, 16623786, 8499909, 15241805, 26851525, 23430884, 18625664, 15305357, 26169695, 15234149, 18052040, 8401540, 8225311, 23412609, 23430512, 27725636, 12607113, 23535491, 24718843
Niemann-Pick Disease, Type B C0268243 SMPD1 27659707, 15221801, 22796693, 15877209, 12556236, 21621718, 23430512, 2023926, 1391960, 16623786, 17011332, 15241805, 26499107, 16472269, 26981555, 9266408, 20386867, 18815062, 21454466, 1885770, 16642440, 16010684, 22613662, 1301192, 23252888, 28600779, 8401540, 12694237, 17876723, 22818240, 12712061, 10694919, 19405096, 8664904, 23188845, 12369017, 8680412, 27338287, 23356216, 19050888, 8051942, 24767253, 1618760, 21502868, 26084044, 27604308, 8225311, 15234149, 15545621, 26913189, 25920558, 12607113
Niemann-Pick Disease, Type C C0220756 LIPA 20557099
NPC1 19252935, 17003072, 11333381, 23773996, 11349231, 12955717, 19223215, 22216111, 10521297, 19744920, 23433426, 23430855, 26981555, 18216017, 16126423, 22676771, 11545687, 11182931, 23597521, 24570279, 26830282, 22476655, 9802331, 25236789, 11754101, 10521290, 23821321, 10480349, 9211849
NPC2 17470133, 11567215, 12955717, 23433426, 25236789, 11125141
NIEMANN-PICK DISEASE, TYPE C2 C1843366 NPC2 12955717, 12447927, 22073306, 16126423, 11567215, 11125141, 17470133, 21084287, 23433426, 15937921, 16757520, 25772320, 11333381, 25038260, 28105569, 27604308, 18772377
Niemann-Pick Disease, Type E C0268248 SMPD1