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:0110493 | autosomal recessive nonsyndromic deafness 35 | |
DOID:0110494 | autosomal recessive nonsyndromic deafness 36 | |
DOID:0110495 | autosomal recessive nonsyndromic deafness 37 | |
DOID:0110496 | autosomal recessive nonsyndromic deafness 38 | |
DOID:0110497 | autosomal recessive nonsyndromic deafness 39 | |
DOID:0110498 | autosomal recessive nonsyndromic deafness 4 | |
DOID:0110499 | autosomal recessive nonsyndromic deafness 40 | |
DOID:0110500 | autosomal recessive nonsyndromic deafness 42 | |
DOID:0110501 | autosomal recessive nonsyndromic deafness 44 | |
DOID:0110502 | autosomal recessive nonsyndromic deafness 45 |
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 |
---|---|---|---|
114583955 | PODMU02555 | ||
107553812 | SINGR49310 | ||
107562679 | SINGR14049 | ||
106839479 | EQUAS12875 | ||
116816659 | CHEAB03730 | ||
115041583 | ECHNA23204 | ||
115388945 | SALFA54482 | ||
113484080 | ATHCN14150 | ||
109056738 | CYPCA06829 | ||
109088690 | CYPCA11774 |
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GlyCosmos Portal v4.0.0
Last updated: August 19, 2024