GO Term | Evidence Code | PMID |
---|---|---|
positive regulation of autophagy | ||
membrane organization |
|
|
cell migration | ||
positive regulation of cell migration involved in sprouting angiogenesis | ||
vascular associated smooth muscle contraction |
|
GO Term | Evidence Code | PMID |
---|---|---|
clathrin binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0110300 | obsolete autosomal dominant limb-girdle muscular dystrophy type 1A | |
DOID:0110301 | obsolete autosomal dominant limb-girdle muscular dystrophy type 1B | |
DOID:0110302 | obsolete autosomal dominant limb-girdle muscular dystrophy type 1C | |
DOID:0110303 | autosomal dominant limb-girdle muscular dystrophy type 1H | |
DOID:0110304 | autosomal dominant limb-girdle muscular dystrophy type 2 | |
DOID:0110305 | autosomal dominant limb-girdle muscular dystrophy type 1 | |
DOID:0110306 | autosomal dominant limb-girdle muscular dystrophy type 3 | |
DOID:0111078 | tibial muscular dystrophy | |
DOID:10003 | sensorineural hearing loss | |
DOID:1029 | familial periodic paralysis |
HPO ID | HPO Term |
---|---|
HP:0004322 | Short stature |
HP:0005257 | Thoracic hypoplasia |
HP:0005280 | Depressed nasal bridge |
HP:0006297 | Enamel hypoplasia |
HP:0006989 | Dysplastic corpus callosum |
HP:0007042 | Focal white matter lesions |
HP:0008155 | Mucopolysacchariduria |
HP:0009237 | Short 5th finger |
HP:0009928 | Thick nasal alae |
HP:0010663 | Abnormal thalamus morphology |
Disease ID | Disease Name |
---|---|
OMIM:618440 |
|
ORPHA:557003 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
181618 | WB:WBGene00009552 | ||
39329 | FB:FBgn0015278 | ||
103174900 | CALMI06426 | ||
102346693 | LATCH17395 | ||
571356 | ZFIN:ZDB-GENE-030328-39 | DANRE49790 | |
113576605 | ELEEL19029 | ||
105018471 | ESOLU57744 | ||
106584631 | SALSA86476 | ||
115192791 | SALTR31003 | ||
115197088 | SALTR12683 |
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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