GO Term | Evidence Code | PMID |
---|---|---|
regulation of fat cell apoptotic process | ||
sphingomyelin biosynthetic process | ||
ceramide biosynthetic process | ||
positive regulation of lipophagy | ||
sphingosine biosynthetic process |
GO Term | Evidence Code | PMID |
---|---|---|
endoplasmic reticulum | ||
SPOTS complex | ||
serine C-palmitoyltransferase complex | ||
endoplasmic reticulum membrane |
GO Term | Evidence Code | PMID |
---|---|---|
pyridoxal phosphate binding | ||
protein binding | ||
serine C-palmitoyltransferase activity |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0050387 | nonpapillary renal cell carcinoma | |
DOID:0050539 | Charcot-Marie-Tooth disease type 2 | |
DOID:0050548 | hereditary sensory neuropathy | |
DOID:0050635 | alternating hemiplegia of childhood | |
DOID:0060600 | obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum | |
DOID:0060672 | Grn-related frontotemporal lobar degeneration with Tdp43 inclusions | |
DOID:0060843 | hereditary neuropathy with liability to pressure palsies | |
DOID:0070145 | hereditary sensory and autonomic neuropathy type 5 | |
DOID:0070146 | hereditary sensory neuropathy type 4 | |
DOID:0070152 | hereditary sensory and autonomic neuropathy type 1A |
HPO ID | HPO Term |
---|---|
HP:0000006 | Autosomal dominant inheritance |
HP:0000020 | Urinary incontinence |
HP:0000252 | Microcephaly |
HP:0000365 | Hearing impairment |
HP:0000407 | Sensorineural hearing impairment |
HP:0000518 | Cataract |
HP:0000605 | Supranuclear gaze palsy |
HP:0000639 | Nystagmus |
HP:0000708 | Atypical behavior |
HP:0000726 | Dementia |
Disease ID | Disease Name |
---|---|
OMIM:620285 |
|
ORPHA:300605 |
|
ORPHA:36386 |
|
OMIM:162400 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
173389 | WB:WBGene00016020 | ||
36448 | FB:FBgn0086532 | ||
103182864 | CALMI25985 | ||
553981 | ZFIN:ZDB-GENE-050522-61 | DANRE00091 | |
103027964 | ASTMX10588 | ||
108277334 | ICTPU08739 | ||
113576733 | ELEEL20090 | ||
115160119 | SALTR70404 | ||
101173642 | ORYLA02960 | ||
100701522 | ORENI68566 |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024