Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Cockayne syndrome
Summary
- Synonym
-
- Neill-Dingwall syndrome
- Definition
- A syndrome that is characterized by an abnormally small head size (microcephaly), a failure to gain weight and grow at the expected rate (failure to thrive) leading to very short stature, and delayed development.
- Super Class
- autosomal recessive disease syndrome
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 847 | CAT | catalase | |
| 952 | CD38 | CD38 molecule | |
| 1312 | COMT | catechol-O-methyltransferase | |
| 1577 | CYP3A5 | cytochrome P450 family 3 subfamily A member 5 | |
| 1583 | CYP11A1 | cytochrome P450 family 11 subfamily A member 1 | |
| 1605 | DAG1 | dystroglycan 1 | |
| 1634 | DCN | decorin | |
| 2348 | FOLR1 | folate receptor alpha | |
| 2597 | GAPDH | glyceraldehyde-3-phosphate dehydrogenase | |
| 2653 | GCSH | glycine cleavage system protein H |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9H1B5 | Xylosyltransferase 2 | |
| Q9UBV7 | Beta-1,4-galactosyltransferase 7 | |
| Q9UEF7 | Klotho | |
| Q9UQE7 | Structural maintenance of chromosomes protein 3 |
