Human gene
PNKP polynucleotide kinase 3'-phosphatase
1 disease group in OMIA reaches this gene, through the animal gene that Ensembl gives as its ortholog. The page shows the chain. It does not say whether an animal is a model of a human disease.
Animal diseases
By each group's best natural-model score, highest first. How the score works.
| OMIA group | Name | Species | Animal gene | Ortholog | The chain reached | Best score |
|---|---|---|---|---|---|---|
| 2183 | Abortion, PNKP-related | pig | PNKP | one to one | Target evidence |
57.0
|
Target evidence
Each Open Targets association between this gene and a human disease that a disease group reached.
| Human disease | Mondo | Score | Evidence |
|---|---|---|---|
| microcephaly, seizures, and developmental delay | MONDO:0013254 | 0.80 | 178 |
| Charcot-Marie-Tooth disease type 2B2 | MONDO:0011570 | 0.62 | 30 |
Drugs
Each ChEMBL drug that acts on this gene.
No ChEMBL drug acts on this gene, among the genes with target evidence.