PAX2
Developmental System · Morphogenesis & Embryonic Axis Patterning
Why can a developmental gene such as PAX2 matter after birth?
PAX2 makes a DNA-binding regulator that helps direct organ formation and maintain certain cells. A developmental role can therefore leave lasting effects on organ function rather than ending at birth.
- Common Gene Name
- paired box 2
- NCBI Gene ID
- 5076
- Chromosome
- 10
Clinical Evidence Status
Established disease relationship
These labels describe available evidence about a gene. They do not classify your variant or recommend a treatment.
Answer Sources
Explore supporting evidence (4 records)
| Condition or drug | Evidence | Grade / status | Context | Source |
|---|---|---|---|---|
| focal segmental glomerulosclerosis 7 | ClinGen gene-disease validity | Definitive | Autosomal dominant | View source 2021-09-13 |
| Renal coloboma syndrome | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2022-08 | |
| Coloboma | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2022-08 | |
| Congenital anomalies of kidney and urinary tract | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2022-08 |
Source snapshot: 2026-09-09. Consumer text updated: 2026-09-10. Source dates describe the cited records, not a new clinical review.
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