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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.

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PEX7 and epilepsy are reported together in 1 article.

Gene

PEX7

2articles

2mentions

0variants with confirmed gene link

Most co-reported phenotypes (articles)

Phenotype

2,084articles

2,084mentions

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 33337545 | DOI 10.1002/jimd.12349 · Journal of inherited metabolic disease · 2021 · 8 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	PEX7	“Rhizomelic chondrodysplasia punctata (RCDP) is a heterogenous group of disorders due to defects in genes encoding peroxisomal proteins required for plasmalogen (PL) biosynthesis, specifically PEX7 and PEX5 receptors, or GNPAT, AGPS and FAR1 enzymes.”	0.98	hgnc_dict_v1
phenotype	epilepsy	“Other major symptoms were learning disability (87%), behavioral issues (56%), seizures (43%), and cardiac defects (31%).”	0.93	phenotype_alias_lexicon_v2
gene	PEX5	“Rhizomelic chondrodysplasia punctata (RCDP) is a heterogenous group of disorders due to defects in genes encoding peroxisomal proteins required for plasmalogen (PL) biosynthesis, specifically PEX7 and PEX5 receptors, or GNPAT, AGPS and FAR1 enzymes.”	0.98	hgnc_dict_v1
gene	GNPAT	“Rhizomelic chondrodysplasia punctata (RCDP) is a heterogenous group of disorders due to defects in genes encoding peroxisomal proteins required for plasmalogen (PL) biosynthesis, specifically PEX7 and PEX5 receptors, or GNPAT, AGPS and FAR1 enzymes.”	0.98	hgnc_dict_v1