NPC1
HGNC:7897 · SaudiVarKB evidence summary derived from retained literature mentions.
7Gene mentions
7Publications
1Linked variants
6Associated phenotypes
Associated phenotypes
Co-mentioned in NPC1 publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| Niemann-Pick disease | — | 6 | 6 |
| obesity | HP:0001513 | 2 | 2 |
| diabetes mellitus | — | 2 | 2 |
| lysosomal storage disease | HP:0003541 | 2 | 2 |
| inflammatory bowel disease | — | 1 | 1 |
| Crohn disease | — | 1 | 1 |
Linked variants
Variants normalized to NPC1| Variant | HGVS / rsID | Articles | Mentions |
|---|---|---|---|
| rs1805081 | rs1805081 | 1 | 1 |
Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|---|---|---|
| Saudi Arabia | — | — | 2 |
| Saudi Arabia | — | 492 | 1 |
| Not specified | — | 2,020 | 1 |
Supporting publications
7 records- 2026Targeting Pathways Implicated in Cholesterol Metabolism for Novel Cancer Therapy.CancersPubMed ↗
- 2024CffDNA screening for Niemann-pick disease, type C1: a case series.Frontiers in medicinePubMed ↗
- 2023An overview of the role of Niemann-pick C1 (NPC1) in viral infections and inhibition of viral infections through NPC1 inhibitor.Cell communication and signaling : CCSPubMed ↗
- 2022Anti-TNF therapy for inflammatory bowel disease in patients with neurodegenerative Niemann-Pick disease Type C.Wellcome open researchPubMed ↗
- 2022A Niemann-Pick Disease Type C2 with Severe Pulmonary Involvement and Limited Therapeutic Options: A Case Report.Children (Basel, Switzerland)PubMed ↗
- 2018Association of Uncoupling Protein 1 (UCP1) gene polymorphism with obesity: a case-control study.BMC medical geneticsPubMed ↗
- 2012Mammalian NPC1 genes may undergo positive selection and human polymorphisms associate with type 2 diabetes.BMC medicinePubMed ↗