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PTEN and spinal muscular atrophy are reported together in 1 article.
Gene
PTEN
- HGNC
- HGNC:9588
132articles
132mentions
3variants with confirmed gene link
Most co-reported phenotypes (articles)
colorectal cancer 17breast cancer 14prostate cancer 13thyroid cancer 7diabetes mellitus 6lung cancer 5Alzheimer disease 4hepatocellular carcinoma 3
Reported variants (articles · ClinVar status)
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
1 records shown · first 60PTEN depletion decreases disease severity and modestly prolongs survival in a mouse model of spinal muscular atrophy.
PMID 25369768 | PMCID PMC4445616 | DOI 10.1038/mt.2014.209 · Molecular therapy : the journal of the American Society of Gene Therapy · 2015 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PTEN | “PTEN depletion decreases disease severity and modestly prolongs survival in a mouse model of spinal muscular atrophy.” | 0.98 | hgnc_dict_v1 |
| phenotype | spinal muscular atrophy | “PTEN depletion decreases disease severity and modestly prolongs survival in a mouse model of spinal muscular atrophy.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | SMN1 | “SMA is caused by mutations in the survival motor neuron 1 (SMN1) gene.” | 0.98 | hgnc_dict_v1 |