NDUFV1
HGNC:7716 · SaudiVarKB evidence summary derived from retained literature mentions.
2Gene mentions
2Publications
0Linked variants
2Associated phenotypes
Associated phenotypes
Co-mentioned in NDUFV1 publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| cardiomyopathy | HP:0001638 | 2 | 2 |
| Alzheimer disease | — | 1 | 1 |
Linked variants
Variants normalized to NDUFV1| 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 |
|---|
No structured population context is available.
Supporting publications
2 records- 2025Mitochondrial complex I deficiency in a 4-year-old boy due to compound heterozygous NDUFV1 mutation: a case report of a new pathogenic variant.Oxford medical case reports1 mentions
- 2016Integrated Left Ventricular Global Transcriptome and Proteome Profiling in Human End-Stage Dilated Cardiomyopathy.PloS one1 mentions