UniProt | Protein Name |
---|---|
Q86X52 |
|
GO Term | Evidence Code | PMID |
---|---|---|
proximal/distal pattern formation | ||
negative regulation of ossification | ||
bone morphogenesis |
GO Term | Evidence Code | PMID |
---|---|---|
extracellular region | ||
membrane | ||
Golgi cisterna membrane | ||
Golgi membrane |
GO Term | Evidence Code | PMID |
---|---|---|
glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity | ||
N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity | ||
metal ion binding |
Species | Protein | mRNA |
---|---|---|
Rattus norvegicus | XP_218759 | XM_218759 |
Drosophila melanogaster | NP_996440 | NM_206717 |
Caenorhabditis elegans | BAC76780 | AB088397 |
Mus musculus | XP_194358 | XM_194358 |
DO ID | Disease Name | Source |
---|---|---|
DOID:0110483 | autosomal recessive nonsyndromic deafness 25 | |
DOID:0110484 | autosomal recessive nonsyndromic deafness 26 | |
DOID:0110485 | autosomal recessive nonsyndromic deafness 27 | |
DOID:0110486 | autosomal recessive nonsyndromic deafness 28 | |
DOID:0110487 | autosomal recessive nonsyndromic deafness 29 | |
DOID:0110488 | autosomal recessive nonsyndromic deafness 3 | |
DOID:0110489 | autosomal recessive nonsyndromic deafness 30 | |
DOID:0110490 | autosomal recessive nonsyndromic deafness 31 | |
DOID:0110491 | autosomal recessive nonsyndromic deafness 32 | |
DOID:0110492 | autosomal recessive nonsyndromic deafness 33 |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000160 | Narrow mouth |
HP:0000164 | Abnormality of the dentition |
HP:0000175 | Cleft palate |
HP:0000311 | Round face |
HP:0000316 | Hypertelorism |
HP:0000327 | Hypoplasia of the maxilla |
HP:0000347 | Micrognathia |
HP:0000369 | Low-set ears |
HP:0000517 | Abnormal lens morphology |
Disease ID | Disease Name |
---|---|
OMIM:605282 |
|
ORPHA:363417 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
292999 | RGD:1311904 | RATNO18427 | |
100716479 | CAVPO06905 | ||
100020781 | MONDO08518 | ||
102459255 | PELSI13534 | ||
114035711 | VOMUR03609 | ||
113879489 | BOBOX36518 | ||
105871286 | MICMU12071 | ||
100966770 | OTOGA12837 | ||
101067591 | TAKRU00621 | ||
115251938 | TAKRU00621 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024