UniProt | Protein Name |
---|---|
Q75T13 |
|
GO Term | Evidence Code | PMID |
---|---|---|
positive regulation of ER to Golgi vesicle-mediated transport | ||
embryonic pattern specification | ||
sensory perception of sound | ||
GPI anchor metabolic process | ||
anterior/posterior axis specification |
GO Term | Evidence Code | PMID |
---|---|---|
endoplasmic reticulum | ||
endoplasmic reticulum membrane |
|
GO Term | Evidence Code | PMID |
---|---|---|
phosphatidylinositol deacylase activity | ||
hydrolase activity, acting on ester bonds |
|
DO ID | Disease Name | Source |
---|---|---|
DOID:0060284 | paroxysmal nocturnal hemoglobinuria | |
DOID:0060308 | autosomal recessive intellectual developmental disorder | |
DOID:0060810 | syndromic X-linked intellectual disability type 10 | |
DOID:0060823 | syndromic X-linked intellectual disability 94 | |
DOID:0110881 | holoprosencephaly 1 | |
DOID:1059 | intellectual disability | |
DOID:10907 | microcephaly | |
DOID:11832 | visual epilepsy | |
DOID:12139 | dysthymic disorder | |
DOID:12859 | choreatic disease |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000154 | Wide mouth |
HP:0000164 | Abnormality of the dentition |
HP:0000193 | Bifid uvula |
HP:0000252 | Microcephaly |
HP:0000294 | Low anterior hairline |
HP:0000395 | Prominent antihelix |
HP:0000400 | Macrotia |
HP:0000470 | Short neck |
HP:0000490 | Deeply set eye |
Disease ID | Disease Name |
---|---|
OMIM:615802 |
|
ORPHA:401820 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
179556 | WB:WBGene00011835 | ||
31487 | FB:FBgn0029789 | ||
103176553 | CALMI10750 | ||
100147850 | ZFIN:ZDB-GENE-090313-216 | ||
108266695 | ICTPU31399 | ||
115160628 | SALTR15051 | ||
103461932 | POERE23482 | ||
101174236 | ORYLA10048 | ||
100692117 | ORENI23358 | ||
102306148 | HAPBU22755 |
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GlyCosmos Portal v4.0.0
Last updated: August 19, 2024