Advanced search
Combine gene, variant, phenotype, region and year filters
Every result shows the extracted entities next to the sentences that support them; rows for the searched entities come first.
Transparent by designEvery result links extracted entities to its source sentence and publication identifier.
Knowledge-base search
About your search
IGHMBP2 and spinal muscular atrophy are reported together in 2 articles.
Gene
IGHMBP2
- HGNC
- HGNC:5542
3articles
3mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Spinal muscular atrophy
45articles
45mentions
12co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
2 records shown · first 60Spinal Muscular Atrophy with Respiratory Distress<br /> Type 1: A Novel Variant of IGHMBP2 Gene.
PMID 34794294 | DOI 10.29271/jcpsp.2021.12.1494 · Journal of the College of Physicians and Surgeons--Pakistan : JCPSP · 2021 · 2 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | IGHMBP2 | “Spinal Muscular Atrophy with Respiratory Distress<br /> Type 1: A Novel Variant of IGHMBP2 Gene.” | 0.98 | hgnc_dict_v1 |
| phenotype | spinal muscular atrophy | “Spinal Muscular Atrophy with Respiratory Distress<br /> Type 1: A Novel Variant of IGHMBP2 Gene.” | 0.98 | phenotype_alias_lexicon_v2 |
Infantile spinal muscular atrophy with respiratory distress type 1: a case report.
PMID 20197267 | DOI 10.1177/0883073809344121 · Journal of child neurology · 2010 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | IGHMBP2 | “The defective gene, the immunoglobulin mu-binding protein 2 (IGHMBP2 gene), of this autosomal recessive disorder is located on chromosome 11q13 and encodes immunoglobulin mu-binding protein 2.” | 0.98 | hgnc_dict_v1 |
| phenotype | spinal muscular atrophy | “Infantile spinal muscular atrophy with respiratory distress type 1: a case report.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “The authors present the first genetically proven case of spinal muscular atrophy with respiratory distress type 1 to be reported from Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |