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X-linked spermatogenic failure 1
Summary
- Synonym
-
- SPGFX1
- Definition
- A Sertoli cell-only syndrome characterized by X-linked inheritance.
- Super Class
- Sertoli cell-only syndrome
External Links
- Disease Ontology
- DOID:0070189
- Mondo Disease Ontology
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 1583 | CYP11A1 | cytochrome P450 family 11 subfamily A member 1 | |
| 1586 | CYP17A1 | cytochrome P450 family 17 subfamily A member 1 | |
| 1588 | CYP19A1 | cytochrome P450 family 19 subfamily A member 1 | |
| 2597 | GAPDH | glyceraldehyde-3-phosphate dehydrogenase | |
| 3284 | HSD3B2 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 | |
| 5223 | PGAM1 | phosphoglycerate mutase 1 | |
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| 5291 | PIK3CB | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | |
| 5293 | PIK3CD | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | |
| 5294 | PIK3CG | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma |
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0011961 | Non-obstructive azoospermia |
| HP:0008669 | Abnormal spermatogenesis |
| HP:0011962 | Obstructive azoospermia |
| HP:0000027 | Azoospermia |
| HP:0000837 | Increased circulating gonadotropin level |
| HP:0008734 | Decreased testicular size |
| HP:0000118 | Phenotypic abnormality |
