obsolete infantile epileptic encephalopathy

Summary
External Links
Disease Ontology
DOID:2481
Related Genes
Displaying entries 21 - 30 of 41 in total
Gene ID Gene Symbol Description Source
8867 SYNJ1 synaptojanin 1
9091 PIGQ phosphatidylinositol glycan anchor biosynthesis class Q
9524 TECR trans-2,3-enoyl-CoA reductase
10195 ALG3 ALG3 alpha-1,3- mannosyltransferase
11253 MAN1B1 mannosidase alpha class 1B member 1
23236 PLCB1 phospholipase C beta 1
26275 HIBCH 3-hydroxyisobutyryl-CoA hydrolase
51227 PIGP phosphatidylinositol glycan anchor biosynthesis class P
55768 NGLY1 N-glycanase 1
64116 SLC39A8 solute carrier family 39 member 8

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024