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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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Phenotype

Developmental delay

480articles

480mentions

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 19733163 | DOI 10.1016/j.clinbiochem.2009.08.017 · Clinical biochemistry · 2009 · 4 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
phenotype	developmental delay	“CONCLUSION: This NP missense mutation reported here is associated with recurrent infection, developmental delay, and primary immunodeficiency combined with normal uric acid levels in the affected child most likely due to a residual PNP enzyme activity.”	0.98	phenotype_alias_lexicon_v2
variant	S163P	“RESULT: The sequencing analysis showed a novel homozygous missense mutation, c.487T>C in the NP gene, resulting in a substitution of serine by proline at residue 163 (S163P) in the mature NP protein.”	0.82	literature_variant_regex_v2
gene	PNP	“BACKGROUND: Purine nucleoside phosphorylase (PNP) deficiency is an autosomal recessive disease in which affected children present with recurrent infection and may present with failure to thrive, neurological impairment, autoimmunity, or malignancy.”	0.98	hgnc_dict_v1
variant	c.487T>C	“RESULT: The sequencing analysis showed a novel homozygous missense mutation, c.487T>C in the NP gene, resulting in a substitution of serine by proline at residue 163 (S163P) in the mature NP protein.”	0.95	hgvs_regex_v1