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PLCE1 and renal failure are reported together in 3 articles.
Gene
PLCE1
- HGNC
- HGNC:17175
12articles
12mentions
1variants with confirmed gene link
Most co-reported phenotypes (articles)
Reported variants (articles · ClinVar status)
Phenotype
Renal failure
523articles
523mentions
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
3 records shown · first 60Copy number variation analysis in 138 families with steroid-resistant nephrotic syndrome identifies causal homozygous deletions in PLCE1 and NPHS2 in two families.
PMID 37670083 | PMCID PMC10979458 | DOI 10.1007/s00467-023-06134-2 · Pediatric nephrology (Berlin, Germany) · 2024 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PLCE1 | “Copy number variation analysis in 138 families with steroid-resistant nephrotic syndrome identifies causal homozygous deletions in PLCE1 and NPHS2 in two families.” | 0.98 | hgnc_dict_v1 |
| phenotype | renal failure | “BACKGROUND: Steroid-resistant nephrotic syndrome (SRNS) is the second most common cause of kidney failure in children and adults under the age of 20 years.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | NPHS2 | “Copy number variation analysis in 138 families with steroid-resistant nephrotic syndrome identifies causal homozygous deletions in PLCE1 and NPHS2 in two families.” | 0.98 | hgnc_dict_v1 |
| phenotype | nephrotic syndrome | “Copy number variation analysis in 138 families with steroid-resistant nephrotic syndrome identifies causal homozygous deletions in PLCE1 and NPHS2 in two families.” | 0.98 | phenotype_alias_lexicon_v2 |
Analysis of chronic kidney disease patients by targeted next-generation sequencing identifies novel variants in kidney-related genes.
PMID 36035137 | PMCID PMC9407681 | DOI 10.3389/fgene.2022.886038 · Frontiers in genetics · 2022 · 14 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PLCE1 | “A total of 13 genetic variants were found to be significantly associated with ESRD in PLCE1, CLCN5, ATP6V1B1, LAMB2, INVS, FRAS1, C5orf42, SLC12A3, COL4A6, SLC3A1, RET, WNK1, and BICC1, including four novel variants that were not previously reported in any other population.” | 0.98 | hgnc_dict_v1 |
| phenotype | renal failure | “Analysis of chronic kidney disease patients by targeted next-generation sequencing identifies novel variants in kidney-related genes.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | CLCN5 | “A total of 13 genetic variants were found to be significantly associated with ESRD in PLCE1, CLCN5, ATP6V1B1, LAMB2, INVS, FRAS1, C5orf42, SLC12A3, COL4A6, SLC3A1, RET, WNK1, and BICC1, including four novel variants that were not previously reported in any other population.” | 0.98 | hgnc_dict_v1 |
| gene | ATP6V1B1 | “A total of 13 genetic variants were found to be significantly associated with ESRD in PLCE1, CLCN5, ATP6V1B1, LAMB2, INVS, FRAS1, C5orf42, SLC12A3, COL4A6, SLC3A1, RET, WNK1, and BICC1, including four novel variants that were not previously reported in any other population.” | 0.98 | hgnc_dict_v1 |
Advillin acts upstream of phospholipase C ϵ1 in steroid-resistant nephrotic syndrome.
PMID 29058690 | PMCID PMC5707164 | DOI 10.1172/JCI94138 · The Journal of clinical investigation · 2017 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PLCE1 | “Additionally, AVIL colocalized and interacted with the phospholipase enzyme PLCE1 and with the ARP2/3 actin-modulating complex.” | 0.98 | hgnc_dict_v1 |
| phenotype | renal failure | “Steroid-resistant nephrotic syndrome (SRNS) is a frequent cause of chronic kidney disease.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | AVIL | “Here, we identified recessive mutations in the gene encoding the actin-binding protein advillin (AVIL) in 3 unrelated families with SRNS.” | 0.98 | hgnc_dict_v1 |
| phenotype | nephrotic syndrome | “Advillin acts upstream of phospholipase C ϵ1 in steroid-resistant nephrotic syndrome.” | 0.98 | phenotype_alias_lexicon_v2 |