UniProt | Protein Name |
---|---|
A0A0S2Z3K3 |
|
A0A0S2Z3I9 |
|
O60931 |
|
I3L4A9 |
|
GO Term | Evidence Code | PMID |
---|---|---|
transmembrane transport |
|
|
visual learning | ||
positive regulation of TORC1 signaling | ||
melanin biosynthetic process | ||
negative regulation of apoptotic process |
GO Term | Evidence Code | PMID |
---|---|---|
intracellular membrane-bounded organelle | ||
melanosome | ||
plasma membrane | ||
lysosomal membrane | ||
early endosome |
DO ID | Disease Name | Source |
---|---|---|
DOID:0014667 | disease of metabolism | |
DOID:0050336 | hypophosphatemia | |
DOID:0050572 | cone-rod dystrophy | |
DOID:0060891 | Parkinson's disease 19A | |
DOID:0060895 | Parkinson's disease 4 | |
DOID:0060896 | Parkinson's disease 23 | |
DOID:0080001 | bone disease | |
DOID:0080348 | Alzheimer's disease 1 | |
DOID:0110035 | Alzheimer's disease 2 | |
DOID:0110037 | Alzheimer's disease 5 |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000026 | Male hypogonadism |
HP:0000083 | Renal insufficiency |
HP:0000093 | Proteinuria |
HP:0000103 | Polyuria |
HP:0000114 | Proximal tubulopathy |
HP:0000117 | Renal phosphate wasting |
HP:0000124 | Renal tubular dysfunction |
HP:0000479 | Abnormal retinal morphology |
HP:0000481 | Abnormal cornea morphology |
Disease ID | Disease Name |
---|---|
OMIM:219800 |
|
ORPHA:411629 |
|
OMIM:219900 |
|
ORPHA:411641 |
|
ORPHA:411634 |
|
OMIM:219750 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
174308 | WB:WBGene00008052 | ||
42723 | FB:FBgn0039045 | ||
100187335 | CIOIN10021 | ||
103183486 | CALMI27654 | ||
553594 | ZFIN:ZDB-GENE-050522-352 | DANRE02414 | |
103043999 | ASTMX02927 | ||
108271312 | ICTPU01685 | ||
113574465 | ELEEL14498 | ||
106613706 | SALSA48757 | ||
115151763 | SALTR114289 |
GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.
Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
This work is licensed under Creative Commons Attribution 4.0 International
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Last updated: August 19, 2024