GO Term | Evidence Code | PMID |
---|---|---|
protein O-linked glycosylation | ||
nervous system development |
|
|
muscle organ development |
|
|
negative regulation of cell population proliferation | ||
regulation of protein glycosylation |
|
GO Term | Evidence Code | PMID |
---|---|---|
Golgi membrane |
Species | Protein | mRNA |
---|---|---|
Rattus norvegicus | XP_342839 | XM_342838 |
Caenorhabditis elegans | NP_497236 | NM_064835 |
Mus musculus | NP_647470 | NM_139309 |
DO ID | Disease Name | Source |
---|---|---|
DOID:0110438 | dilated cardiomyopathy 1JJ | |
DOID:11211 | buphthalmos | |
DOID:0110278 | autosomal recessive limb-girdle muscular dystrophy type 2D | |
DOID:0110279 | autosomal recessive limb-girdle muscular dystrophy type 2E | |
DOID:0110280 | autosomal recessive limb-girdle muscular dystrophy type 2F | |
DOID:0110281 | autosomal recessive limb-girdle muscular dystrophy type 2G | |
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 |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000028 | Cryptorchidism |
HP:0000050 | Hypoplastic male external genitalia |
HP:0000110 | Renal dysplasia |
HP:0000175 | Cleft palate |
HP:0000176 | Submucous cleft hard palate |
HP:0000193 | Bifid uvula |
HP:0000204 | Cleft upper lip |
HP:0000238 | Hydrocephalus |
HP:0000248 | Brachycephaly |
Disease ID | Disease Name |
---|---|
ORPHA:370980 |
|
ORPHA:154 |
|
ORPHA:899 |
|
OMIM:613152 |
|
ORPHA:272 |
|
OMIM:236670 |
|
OMIM:253800 |
|
OMIM:611588 |
|
ORPHA:588 |
|
OMIM:611615 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
100722995 | CAVPO12518 | ||
101592708 | OCTDE15603 | ||
101701255 | HETGA16584 | ||
101879516 | MELUD01263 | ||
100016678 | MONDO30393 | ||
102449717 | PELSI14241 | ||
100559733 | ANOCA17162 | ||
103678546 | URSMA15761 | ||
113897621 | BOBOX31384 | ||
100965786 | OTOGA15736 |
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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