UniProt | Protein Name |
---|---|
O75787 |
|
GO Term | Evidence Code | PMID |
---|---|---|
vacuolar acidification |
|
|
proton transmembrane transport |
|
|
positive regulation of canonical Wnt signaling pathway | ||
positive regulation of Wnt signaling pathway | ||
rostrocaudal neural tube patterning |
GO Term | Evidence Code | PMID |
---|---|---|
autophagosome membrane | ||
clathrin-coated vesicle membrane | ||
vacuolar proton-transporting V-type ATPase, V0 domain | ||
external side of plasma membrane | ||
axon |
GO Term | Evidence Code | PMID |
---|---|---|
signaling receptor activity | ||
protein binding |
HPO ID | HPO Term |
---|---|
HP:0002650 | Scoliosis |
HP:0002719 | Recurrent infections |
HP:0002910 | Elevated circulating hepatic transaminase concentration |
HP:0003438 | Absent Achilles reflex |
HP:0003487 | Babinski sign |
HP:0003593 | Infantile onset |
HP:0003596 | Middle age onset |
HP:0003621 | Juvenile onset |
HP:0003623 | Neonatal onset |
HP:0003677 | Slowly progressive |
Disease ID | Disease Name |
---|---|
ORPHA:363654 |
|
OMIM:300911 |
|
OMIM:301045 |
|
OMIM:300423 |
|
ORPHA:93952 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
174109 | WB:WBGene00020500 | ||
181526 | WB:WBGene00010993 | ||
41104 | FB:FBgn0037671 | ||
103183828 | CALMI03163 | ||
102360219 | LATCH14143 | ||
406296 | ZFIN:ZDB-GENE-040426-1960 | DANRE22794 | |
103046401 | ASTMX10533 | ||
108259516 | ICTPU22329 | ||
100195062 | SALSA77940 | ||
115156323 | SALTR09087 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024