UniProt | Protein Name |
---|---|
A8MYS5 |
|
Q9UHJ9 |
|
A0A024RCD5 |
|
H0YDQ4 |
|
B7Z2X5 |
|
A0A0S2Z568 |
|
A0A0A0MS75 |
|
GO Term | Evidence Code | PMID |
---|---|---|
GPI anchor biosynthetic process |
GO Term | Evidence Code | PMID |
---|---|---|
endoplasmic reticulum membrane | ||
membrane |
|
|
Golgi membrane |
GO Term | Evidence Code | PMID |
---|---|---|
protein binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0050459 | hyperphosphatemia | |
DOID:0050841 | focal hand dystonia | |
DOID:0060216 | Cogan syndrome | |
DOID:0060249 | scoliosis | |
DOID:0060476 | Perlman syndrome | |
DOID:0060823 | syndromic X-linked intellectual disability 94 | |
DOID:0070435 | hyperphosphatasia with impaired intellectual development syndrome 3 | |
DOID:0080351 | CLOVES syndrome | |
DOID:0110213 | isolated cleft palate | |
DOID:10003 | sensorineural hearing loss |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000126 | Hydronephrosis |
HP:0000154 | Wide mouth |
HP:0000175 | Cleft palate |
HP:0000193 | Bifid uvula |
HP:0000218 | High palate |
HP:0000248 | Brachycephaly |
HP:0000252 | Microcephaly |
HP:0000280 | Coarse facial features |
HP:0000286 | Epicanthus |
Disease ID | Disease Name |
---|---|
OMIM:614207 |
|
ORPHA:247262 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
188041 | WB:WBGene00007045 | ||
33258 | FB:FBgn0031284 | ||
100180163 | CIOIN03763 | ||
541417 | ZFIN:ZDB-GENE-050320-119 | DANRE20456 | |
103040677 | ASTMX09339 | ||
100528111 | ICTPU11615 | ||
100195953 | SALSA120841 | ||
115155010 | SALTR102895 | ||
115546705 | GADMO55673 | ||
115594334 | SPAAU19786 |
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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