IGHMBP2
HGNC:5542 · SaudiVarKB evidence summary derived from retained literature mentions.
3Gene mentions
3Publications
0Linked variants
2Associated phenotypes
Associated phenotypes
Co-mentioned in IGHMBP2 publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| spinal muscular atrophy | — | 2 | 2 |
| COVID-19 | — | 1 | 1 |
Linked variants
Variants normalized to IGHMBP2| 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 | — | 19 | 1 |
Supporting publications
3 records- 2025Identification of Novel Genomic Variants in COVID-19 Patients Using Whole-Exome Sequencing: Exploring the Plausible Targets of Functional Genomics.Biochemical geneticsPubMed ↗
- 2021Spinal Muscular Atrophy with Respiratory Distress<br /> Type 1: A Novel Variant of IGHMBP2 Gene.Journal of the College of Physicians and Surgeons--Pakistan : JCPSPPubMed ↗
- 2010Infantile spinal muscular atrophy with respiratory distress type 1: a case report.Journal of child neurologyPubMed ↗