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Phenotype
Nephrotic syndrome
108articles
108mentions
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 60Recessive Mutations in SYNPO2 as a Candidate of Monogenic Nephrotic Syndrome.
PMID 33615072 | PMCID PMC7879128 | DOI 10.1016/j.ekir.2020.10.040 · Kidney international reports · 2021 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | nephrotic syndrome | “Recessive Mutations in SYNPO2 as a Candidate of Monogenic Nephrotic Syndrome.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | p.Ala1134Thr | “RESULTS: We discovered homozygous truncating and homozygous missense mutation in SYNPO2 (synaptopodin-2) (p.Lys1124∗ and p.Ala1134Thr) in 2 patients with childhood-onset NS.” | 0.95 | hgvs_regex_v1 |
| gene | SYNPO2 | “Recessive Mutations in SYNPO2 as a Candidate of Monogenic Nephrotic Syndrome.” | 0.98 | hgnc_dict_v1 |