Sphingomyelinase deficiency

Disease Term Disease ID Gene Symbol Classification References Source
Niemann-Pick Disease, Type C1 C3179455 NPC1 Causal Pathogenic evidence from ClinVar 3378364, 9211849, 9211850, 9245994, 9634529, 9802331, 9927649, 10480349, 10521290, 10521297, 11182931, 11333381, 11349231, 11479732, 11545687, 11754101, 12205649, 12401890, 12408188, 12554680, 12719428, 12955717, 12974729, 14639697, 15130691, 15347664, 15459971, 15465421, 15774455, 15937921, 16086131, 16098014, 16126423, 16138904, 16778374, 16802107, 17003072, 17160617, 17989072, 18216017, 19013089, 19206179, 19223215, 19252935, 19307542, 19609713, 19718781, 19744920, 19900398, 20521171, 20525256, 20718790, 20826119, 21245028, 22065762, 22216111, 22326530, 22476655, 22505584, 22676771, 22704015, 22750297, 23142039, 23146215, 23183285, 23427322, 23430855, 23433426, 23453666, 23593294, 23597521, 23653225, 23773996, 23774949, 23791518, 24001525, 24035292, 24135395, 24386122, 24506780, 24570279, 24676439, 24767253, 24915861, 25131710, 25149939, 25236789, 25239094, 25326637, 25349751, 25425405, 25637190, 25764212, 26019327, 26108224, 26206375, 26338816, 26666848, 26937389, 26939636, 26981555, 26984608, 27139891, 2 ClinVar
LIPA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20557099 -
Niemann-Pick Disease, Type D C0268247 NPC1 Causal Pathogenic evidence from ClinVar 9802331, 22216111 ClinVar
LIPA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20557099 -
Niemann-Pick Diseases C0028064 SMPD1 Causal Pathogenic evidence from ClinVar 12369017, 12631268, 12694237, 14681755, 15545621, 15877209, 17011332, 25920558 ClinVar