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Every result shows the extracted entities next to the sentences that support them; rows for the searched entities come first.
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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 60Does NPHS1 polymorphism modulate P118l mutation in NPHS2?
PMID 24231487 | DOI 10.4103/1319-2442.121300 · Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia · 2013 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | nephrotic syndrome | “Nephrotic syndrome (NS) in the first year of life is uncommon and makes up a heterogeneous group of disorders.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | P118L | “We report a child aged 4 months with steroid-resistant NS who had polymorphism of NPHS1 (E117K) and mutation of NPHS2 (P118L).” | 0.82 | literature_variant_regex_v2 |
| gene | NPHS1 | “Does NPHS1 polymorphism modulate P118l mutation in NPHS2?” | 0.98 | hgnc_dict_v1 |
| gene | NPHS2 | “Does NPHS1 polymorphism modulate P118l mutation in NPHS2?” | 0.98 | hgnc_dict_v1 |