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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 60X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.
PMID 30389958 | PMCID PMC6214919 | DOI 10.1038/s41598-018-34262-5 · Scientific reports · 2018 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | infertility | “We performed whole exome sequencing to identify an unknown genetic cause of azoospermia and male infertility in a large Pakistani family.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | p.Arg814* | “We considered novel nonsense variant c.2440C > T(p.Arg814*) in X-linked gene ADGRG2 as biologically most plausible.” | 0.95 | hgvs_regex_v1 |
| gene | ADGRG2 | “X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.” | 0.98 | hgnc_dict_v1 |
| gene | CFTR | “Three infertile males were subjected to semen analysis, hormone testing, testicular histology, ultrasonography, karyotyping, Y-chromosome microdeletion and CFTR testing.” | 0.98 | hgnc_dict_v1 |