CNP
HGNC:2158 · SaudiVarKB evidence summary derived from retained literature mentions.
2Gene mentions
2Publications
1Linked variants
2Associated phenotypes
Associated phenotypes
Co-mentioned in CNP publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| epilepsy | HP:0001250 | 1 | 1 |
| multiple sclerosis | — | 1 | 1 |
Linked variants
Variants normalized to CNP| Variant | HGVS / rsID | Articles | Mentions |
|---|---|---|---|
| p.Glu99* | p.Glu99* | 1 | 1 |
Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|---|---|---|
| Not specified | — | — | 1 |
Supporting publications
2 records- 2025Case Report: Hypomyelinating Leukodystrophy Type 20 (HLD20) With Novel CNP Gene Variant.American journal of medical genetics. Part APubMed ↗
- 2020CNP deficiency causes severe hypomyelinating leukodystrophy in humans.Human geneticsPubMed ↗