abnormal sphingomyelin level Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description deviation in the expected amount of any of a group of phospholipids that are found especially in, but not restricted to, nerve tissue and yield sphingosine, choline, a fatty acid, and phosphoric acid upon hydrolysis (Mammalian Phenotype Ontology, MP_0009823)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0009823
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5 gene mutations causing the abnormal sphingomyelin level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ELOVL1 ELOVL fatty acid elongase 1
GALC galactosylceramidase
NPC1 Niemann-Pick disease, type C1
SGMS2 sphingomyelin synthase 2
SPTLC2 serine palmitoyltransferase, long chain base subunit 2