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NPC2 and Niemann-Pick disease are reported together in 1 article.
Gene
NPC2
- HGNC
- HGNC:14537
1articles
1mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
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 60A Niemann-Pick Disease Type C2 with Severe Pulmonary Involvement and Limited Therapeutic Options: A Case Report.
PMID 36553254 | PMCID PMC9776807 | DOI 10.3390/children9121811 · Children (Basel, Switzerland) · 2022 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | NPC2 | “There are two types, NPC1, which is the predominant form (95%), and the rare NPC2, which represents less than 5% of the reported cases.” | 0.98 | hgnc_dict_v1 |
| phenotype | Niemann-Pick disease | “A Niemann-Pick Disease Type C2 with Severe Pulmonary Involvement and Limited Therapeutic Options: A Case Report.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | NPC1 | “There are two types, NPC1, which is the predominant form (95%), and the rare NPC2, which represents less than 5% of the reported cases.” | 0.98 | hgnc_dict_v1 |