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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
Lysosomal storage disease
- HPO
- HP:0003541
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.
Publications
1 records shown · first 60Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis.
PMID 15365997 | DOI 10.1002/humu.9279 · Human mutation · 2004 · 8 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | lysosomal storage disease | “GM1-gangliosidosis is a lysosomal storage disorder caused by a deficiency of beta-galactosidase.” | 0.93 | phenotype_alias_lexicon_v2 |
| variant | c.145C>T | “This mutation was found in the heteroallelic state in a patient from Saudi Arabia, the second mutation being the previously described c.145C>T mutation.” | 0.95 | hgvs_regex_v1 |
| gene | GLB1 | “We have identified four novel mutations and one previously reported mutation in the GLB1 gene.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “We have performed molecular analysis of five patients with the infantile form of GM1-gangliosidosis originating from the Middle East (two from Saudi Arabia and three from the United Arab Emirates). The first novel mutation found in the homoallelic state in a patient from Saudi Arabia, is a c.171C>G transversion in exon 2 which creates a premature stop codon. This mutation was found in the heteroallelic state in a patient from Saudi Arabia, the second mutation being the previously described c.145C>T mutation.” | 0.95 | saudi_context_rules_v1 |