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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 |
|---|---|---|---|
| 2720 | GLB1 | galactosidase beta 1 | |
| 2731 | GLDC | glycine decarboxylase | |
| 2821 | GPI | glucose-6-phosphate isomerase | |
| 3339 | HSPG2 | heparan sulfate proteoglycan 2 | |
| 4968 | OGG1 | 8-oxoguanine DNA glycosylase | |
| 4973 | OLR1 | oxidized low density lipoprotein receptor 1 | |
| 5130 | PCYT1A | phosphate cytidylyltransferase 1A, choline | |
| 5224 | PGAM2 | phosphoglycerate mutase 2 | |
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| 5291 | PIK3CB | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta |
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 |
