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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Noonan syndrome
Summary
- Synonym
-
- Turner's phenotype, karyotype normal
- Definition
- A RASopathy that is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms.
- Super Class
- RASopathy monogenic disease
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 35 | ACADS | acyl-CoA dehydrogenase short chain | |
| 142 | PARP1 | poly(ADP-ribose) polymerase 1 | |
| 275 | AMT | aminomethyltransferase | |
| 410 | ARSA | arylsulfatase A | |
| 412 | STS | steroid sulfatase | |
| 414 | ARSD | arylsulfatase D | |
| 570 | BAAT | bile acid-CoA:amino acid N-acyltransferase | |
| 847 | CAT | catalase | |
| 1583 | CYP11A1 | cytochrome P450 family 11 subfamily A member 1 | |
| 1605 | DAG1 | dystroglycan 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q96FL9 | Polypeptide N-acetylgalactosaminyltransferase 14 | |
| Q9H1B5 | Xylosyltransferase 2 | |
| Q9UBV7 | Beta-1,4-galactosyltransferase 7 | |
| Q9UEF7 | Klotho | |
| Q9UQE7 | Structural maintenance of chromosomes protein 3 |
