Advanced search

Combine gene, variant, phenotype, region and year filters

Every result shows the extracted entities next to the sentences that support them; rows for the searched entities come first.

Transparent by designEvery result links extracted entities to its source sentence and publication identifier.

Knowledge-base search

About your search

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.

1 records shown · first 60

PMID 27766963 | PMCID PMC5073987 | DOI 10.1186/s12881-016-0331-1 · BMC medical genetics · 2016 · 7 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
phenotype	infertility	“Previous reports documented a clear relationship between parents with chromosomal abnormalities and both recurrent miscarriages and infertility.”	0.98	phenotype_alias_lexicon_v2
variant	C677T	“Allelic polymorphisms of three thrombophilic genes (Factor V Leiden, Prothrombin A20210G, MTHFR C677T) were performed using PCR-RFLP (restriction fragment length polymorphism) and gel electrophoresis.”	0.82	literature_variant_regex_v2
gene	MTHFR	“Allelic polymorphisms of three thrombophilic genes (Factor V Leiden, Prothrombin A20210G, MTHFR C677T) were performed using PCR-RFLP (restriction fragment length polymorphism) and gel electrophoresis.”	0.98	hgnc_dict_v1
gene	PGD	“Given the high rate of consanguineous marriages in the Saudi population, these results underline the importance of systematic cytogenetic investigation and genetic counseling preferably at the premarital stage or at least during early pregnancy phase through preimplantation genetic diagnosis (PGD).”	0.98	hgnc_dict_v1