CLPP
HGNC:2084 · SaudiVarKB evidence summary derived from retained literature mentions.
3Gene mentions
3Publications
0Linked variants
6Associated phenotypes
Associated phenotypes
Co-mentioned in CLPP publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| obesity | HP:0001513 | 1 | 1 |
| Alzheimer disease | — | 1 | 1 |
| intellectual disability | HP:0001249 | 1 | 1 |
| hearing loss | HP:0000365 | 1 | 1 |
| Down syndrome | — | 1 | 1 |
| infertility | — | 1 | 1 |
Linked variants
Variants normalized to CLPP| Variant | HGVS / rsID | Articles | Mentions |
|---|
No normalized variants are linked to this gene.
Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|---|---|---|
| Saudi Arabia | — | — | 1 |
| Not specified | — | 387 | 1 |
Supporting publications
3 records- 2024Aging exacerbates oxidative stress and liver fibrosis in an animal model of Down Syndrome.AgingPubMed ↗
- 2018Primary Ovarian Insufficiency and Azoospermia in Carriers of a Homozygous PSMC3IP Stop Gain Mutation.The Journal of clinical endocrinology and metabolismPubMed ↗
- 2015Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical spectrum of Perrault Syndrome type-3.Journal of the neurological sciencesPubMed ↗