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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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HEXB and lysosomal storage disease are reported together in 1 article.

Gene

HEXB

2articles

2mentions

0variants with confirmed gene link

Most co-reported phenotypes (articles)

Phenotype

50articles

50mentions

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 31852446 | PMCID PMC6921424 | DOI 10.1186/s12881-019-0907-7 · BMC medical genetics · 2019 · 8 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	HEXB	“Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families.”	0.98	hgnc_dict_v1
phenotype	lysosomal storage disease	“RESULTS: We identified a homozygous splice site variant (NM_000521:c.445 + 1G > T) in the hexosaminidase B (HEXB) gene confirming a diagnosis of Sandhoff disease (SD; type II GM2-gangliosidosis), an autosomal recessive lysosomal storage disorder caused by deficiency of hexosaminidases in a single family.”	0.93	phenotype_alias_lexicon_v2
gene	MBOAT7	“Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families.”	0.98	hgnc_dict_v1
phenotype	intellectual disability	“MBOAT7 gene variants have recently been identified as a cause of intellectual disability (ID), seizures and autistic features.”	0.98	phenotype_alias_lexicon_v2