UniProt | Protein Name |
---|---|
Q5H8C1 |
|
GO Term | Evidence Code | PMID |
---|---|---|
cell communication | ||
cell-matrix adhesion | ||
craniofacial suture morphogenesis | ||
anatomical structure morphogenesis |
GO Term | Evidence Code | PMID |
---|---|---|
extracellular region | ||
basement membrane | ||
collagen-containing extracellular matrix | ||
membrane |
GO Term | Evidence Code | PMID |
---|---|---|
metal ion binding | ||
carbohydrate binding | ||
protein binding |
DO ID | Disease Name | Source |
---|---|---|
DOID:0060229 | Baraitser-Winter syndrome | |
DOID:0060232 | branchiootic syndrome | |
DOID:0060316 | orofaciodigital syndrome I | |
DOID:0060321 | umbilical hernia | |
DOID:0060327 | omphalocele | |
DOID:0060359 | Sakati-Nyhan syndrome | |
DOID:0060380 | orofaciodigital syndrome X | |
DOID:0060390 | distal 10q deletion syndrome | |
DOID:0060391 | chromosome 13q14 deletion syndrome | |
DOID:0060394 | chromosome 15q13.3 microdeletion syndrome |
HPO ID | HPO Term |
---|---|
HP:0000006 | Autosomal dominant inheritance |
HP:0000007 | Autosomal recessive inheritance |
HP:0000104 | Renal agenesis |
HP:0000122 | Unilateral renal agenesis |
HP:0000143 | Rectovaginal fistula |
HP:0000148 | Vaginal atresia |
HP:0000200 | Short lingual frenulum |
HP:0000243 | Trigonocephaly |
HP:0000248 | Brachycephaly |
HP:0000252 | Microcephaly |
Disease ID | Disease Name |
---|---|
ORPHA:217266 |
|
OMIM:608980 |
|
ORPHA:3366 |
|
OMIM:614485 |
|
ORPHA:2717 |
|
OMIM:248450 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
103177741 | CALMI13662 | ||
102349857 | LATCH05287 | ||
100216326 | ZFIN:ZDB-GENE-081119-1 | DANRE41732 | |
557221 | ZFIN:ZDB-GENE-050208-783 | ||
108268187 | ICTPU32960 | ||
113580476 | ELEEL26806 | ||
100380660 | SALSA89806 | ||
115194232 | SALTR88980 | ||
101171475 | ORYLA19590 | ||
100690162 | ORENI51880 |
GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.
Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
This work is licensed under Creative Commons Attribution 4.0 International
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Last updated: August 19, 2024