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
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P08842 | Steryl-sulfatase | |
| P09874 | Poly [ADP-ribose] polymerase 1 | |
| P14618 | Pyruvate kinase PKM | |
| P15121 | Aldo-keto reductase family 1 member B1 | |
| P15289 | Arylsulfatase A | |
| P15328 | Folate receptor alpha | |
| P16278 | Beta-galactosidase | |
| P20815 | Cytochrome P450 3A5 | |
| P21964 | Catechol O-methyltransferase | |
| P23434 | Glycine cleavage system H protein, mitochondrial |
