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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
Infertility
199articles
199mentions
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 60Pathogenic homozygous PLCZ1 mutation reduces sperm protein levels with a simulated reduction of PIP2 binding: a case report.
PMID 41818057 | PMCID PMC13034560 | DOI 10.1530/RAF-25-0085 · Reproduction & fertility · 2026 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | infertility | “Sperm PLCζ deficiency is linked to male infertility caused by oocyte activation deficiency.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | c.1154G>A | “The variant caused a guanine (G)-to-adenine (A) change at position 1,154 (c.1154G>A), resulting in an arginine (R)-to-glutamine (Q) change at amino acid 385 (p.Arg385Gln; R385Q), disrupting the local protein fold in the Y domain of the active site in a highly deleterious and pathogenic manner.” | 0.95 | hgvs_regex_v1 |
| gene | PLCZ1 | “Pathogenic homozygous PLCZ1 mutation reduces sperm protein levels with a simulated reduction of PIP2 binding: a case report.” | 0.98 | hgnc_dict_v1 |
| variant | p.Arg385Gln | “The variant caused a guanine (G)-to-adenine (A) change at position 1,154 (c.1154G>A), resulting in an arginine (R)-to-glutamine (Q) change at amino acid 385 (p.Arg385Gln; R385Q), disrupting the local protein fold in the Y domain of the active site in a highly deleterious and pathogenic manner.” | 0.95 | hgvs_regex_v1 |