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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 60NPHS2 gene mutations in azerbaijani children with steroid-resistant nephrotic syndrome.
PMID 32129207 | DOI 10.4103/1319-2442.279934 · Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia · 2020 · 9 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | nephrotic syndrome | “NPHS2 gene mutations in azerbaijani children with steroid-resistant nephrotic syndrome.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | p.Arg168His | “Two patients had p.Val290Met homozygous mutation; two had p.Arg229Gln homozygous mutations; and one each had p.Pro20Leu homozygote, p.Leu169Pro homozygote, p.Arg138Gln homozygote, and p.Arg168His homozygous mutations.” | 0.95 | hgvs_regex_v1 |
| gene | NPHS2 | “NPHS2 gene mutations in azerbaijani children with steroid-resistant nephrotic syndrome.” | 0.98 | hgnc_dict_v1 |
| phenotype | renal failure | “Steroid- resistant NS (SRNS) is defined by resistance to standard steroid therapy, and it continues to be one of the most common causes of chronic renal failure.” | 0.98 | phenotype_alias_lexicon_v2 |