UniProt | Protein Name |
---|---|
O60931 |
|
I3L4A9 |
|
A0A0S2Z3K3 |
|
A0A0S2Z3I9 |
|
GO Term | Evidence Code | PMID |
---|---|---|
thyroid gland development | ||
brain development | ||
glutathione metabolic process | ||
ion transport |
|
|
L-cystine transport |
GO Term | Evidence Code | PMID |
---|---|---|
intracellular membrane-bounded organelle | ||
melanosome | ||
plasma membrane | ||
lysosomal membrane | ||
early endosome |
DO ID | Disease Name | Source |
---|---|---|
DOID:11105 | fundus albipunctatus | |
DOID:11155 | hypohidrosis | |
DOID:11156 | anhidrosis | |
DOID:11541 | recurrent corneal erosion | |
DOID:11719 | oculopharyngeal muscular dystrophy | |
DOID:11720 | distal myopathy | |
DOID:11724 | limb-girdle muscular dystrophy | |
DOID:11727 | facioscapulohumeral muscular dystrophy | |
DOID:11870 | Pick's disease | |
DOID:1222 | cartilage disease |
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 |
---|---|---|---|
115151763 | SALTR114289 | ||
115158176 | SALTR108843 | ||
115556067 | GADMO07736 | ||
100705865 | ORENI25850 | ||
115591521 | SPAAU69462 | ||
431937 | Xenbase:XB-GENE-1006271 | ||
780074 | Xenbase:XB-GENE-1006266 | ||
109317206 | CROPO22232 | ||
100547035 | MELGA07038 | ||
103820152 | SERCA16243 |
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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