UniProt | Protein Name |
---|---|
P98160 |
|
GO Term | Evidence Code | PMID |
---|---|---|
animal organ regeneration | ||
brain development |
|
|
response to xenobiotic stimulus | ||
angiogenesis | ||
positive regulation of endothelial cell proliferation |
GO Term | Evidence Code | PMID |
---|---|---|
extracellular region | ||
Golgi lumen |
|
|
basement membrane |
|
|
plasma membrane |
|
|
focal adhesion |
GO Term | Evidence Code | PMID |
---|---|---|
low-density lipoprotein particle receptor binding |
|
|
amyloid-beta binding | ||
extracellular matrix structural constituent conferring compression resistance | ||
calcium ion binding | ||
protein binding |
DO ID | Disease Name | Source |
---|---|---|
DOID:0110282 | autosomal recessive limb-girdle muscular dystrophy type 2H | |
DOID:0110283 | autosomal recessive limb-girdle muscular dystrophy type 2J | |
DOID:0110284 | autosomal recessive limb-girdle muscular dystrophy type 2L | |
DOID:0110285 | autosomal recessive limb-girdle muscular dystrophy type 2Q | |
DOID:0110286 | obsolete autosomal recessive limb-girdle muscular dystrophy type 2R | |
DOID:0110287 | autosomal recessive limb-girdle muscular dystrophy type 2S | |
DOID:0110289 | autosomal recessive limb-girdle muscular dystrophy type 2Y | |
DOID:0110292 | autosomal recessive limb-girdle muscular dystrophy type 2O | |
DOID:0110293 | autosomal recessive limb-girdle muscular dystrophy type 2P | |
DOID:0110294 | autosomal recessive limb-girdle muscular dystrophy type 2T |
HPO ID | HPO Term |
---|---|
HP:0003577 | Congenital onset |
HP:0003593 | Infantile onset |
HP:0003712 | Skeletal muscle hypertrophy |
HP:0003731 | Quadriceps muscle weakness |
HP:0003811 | Neonatal death |
HP:0004209 | Clinodactyly of the 5th finger |
HP:0004322 | Short stature |
HP:0004325 | Decreased body weight |
HP:0004326 | Cachexia |
HP:0004374 | Hemiplegia/hemiparesis |
Disease ID | Disease Name |
---|---|
ORPHA:1606 |
|
ORPHA:800 |
|
ORPHA:1865 |
|
OMIM:255800 |
|
OMIM:224410 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
175126 | WB:WBGene00006787 | ||
45320 | FB:FBgn0284408 | ||
565429 | ZFIN:ZDB-GENE-080807-4 | DANRE24960 | |
100380784 | SALSA43220 | ||
115165633 | SALTR88020 | ||
103467813 | POERE30093 | ||
102290874 | HAPBU05628 | ||
113013483 | ASTCA20652 | ||
108696836 | Xenbase:XB-GENE-17341349 | ||
100494785 | Xenbase:XB-GENE-6465357 |
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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