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Phenotype
Niemann-Pick disease
21articles
21mentions
9co-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 60The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations.
PMID 12369017 | PMCID PMC378582 | DOI 10.1086/345074 · American journal of human genetics · 2002 · 12 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | Niemann-Pick disease | “The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | L549P | “Among these were the L137P, fsP189, and L549P mutations, which accounted for approximately 75% of the alleles in Turkish patients, the H421Y and K576N mutations, which accounted for approximately 85% of the alleles in Saudi Arabian patients, the S379P, R441X, R474W, and F480L mutations, which accounted for approximately 55% of the alleles in Portuguese/Brazilian patients, and the A196P mutation, which accounted for approximately 42% of the alleles in Scottish/English patients.” | 0.82 | literature_variant_regex_v2 |
| gene | SMPD1 | “Mutation analysis of the acid sphingomyelinase (ASM) gene (designated "SMPD1") was performed on 228 patients (324 unique alleles), and several novel, "common" mutations were found.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “We have collected demographic and/or mutation information on a worldwide sample of 394 patients with type B Niemann-Pick disease (NPD). Among these were the L137P, fsP189, and L549P mutations, which accounted for approximately 75% of the alleles in Turkish patients, the H421Y and K576N mutations, which accounted for approximately 85% of the alleles in Saudi Arabian patients, the S379P, R441X, R474W, and F480L mutations, which accounted for approximately 55% of the alleles in Portuguese/Brazilian patients, and the A196P mutation, which accounted for approximately 42% of the alleles in Scottish/English patients. In particular, the L137P, A196P, and R474W mutations were consistent with a less severe form of type B NPD, whereas the H421Y and K576N mutations led to an early-onset, more severe form that was specific to Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |