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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 |
|---|---|---|---|
| 5293 | PIK3CD | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | |
| 5294 | PIK3CG | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | |
| 5315 | PKM | pyruvate kinase M1/2 | |
| 5621 | PRNP | prion protein (Kanno blood group) | |
| 5728 | PTEN | phosphatase and tensin homolog | |
| 8658 | TNKS | tankyrase | |
| 8879 | SGPL1 | sphingosine-1-phosphate lyase 1 | |
| 9126 | SMC3 | structural maintenance of chromosomes 3 | |
| 9365 | KL | klotho | |
| 11285 | B4GALT7 | beta-1,4-galactosyltransferase 7 |
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 |
