Sphingomyelinase deficiency

Disease Term Disease ID Gene Symbol References
Niemann-Pick Disease, Type D C0268247 LIPA 20557099
NPC1 9802331, 22216111
Niemann-Pick Disease, Type C1 C3179455 LIPA 20557099
NPC1 26108224, 27139891, 26984608, 24915861, 22704015, 11479732, 22505584, 12401890, 28222799, 23146215, 24135395, 28130309, 11182931, 11545687, 10480349, 23142039, 9211850, 19744920, 21245028, 23433426, 28480683, 22216111, 23791518, 16126423, 25131710, 9211849, 25239094, 26939636, 27238017, 25349751, 16098014, 11349231, 24001525, 16138904, 17160617, 25236789, 20718790, 20525256, 10521297, 14639697, 19609713, 22676771, 11333381, 17003072, 22750297, 22065762, 25425405, 23427322, 10521290, 19307542, 23593294, 28193631, 15130691, 27378690, 26666848, 26338816, 23183285, 23597521, 24386122, 27928380, 15465421, 25637190, 28155026, 26981555, 19718781, 27366019, 11754101, 16802107, 24676439, 3378364, 17989072, 12408188, 24506780, 16778374, 15774455, 25326637, 25764212, 12955717, 15937921, 23453666, 15347664, 22326530, 27581084, 27549128, 23773996, 12205649, 30119649, 23653225, 19900398, 19013089, 26206375, 18216017, 12974729, 25149939, 26937389, 19223215, 27193329, 27959697, 28167839, 9634529, 12719428, 24035292, 19206179, 12554680, 9802331, 27706244, 23430855, 28802248, 9245994, 16086131, 24767253, 23774949, 19252935, 9927649, 27256227, 26019327, 15459971, 29197565, 27604308, 29100954, 20826119, 27900365, 24570279, 22476655, 20521171
Niemann-Pick Diseases C0028064 SMPD1 15877209, 12369017, 15545621, 12694237, 17011332, 25920558, 14681755, 12631268