Advanced search
Combine gene, variant, phenotype, region and year filters
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.
Knowledge-base search
About your search
NPC1 and Niemann-Pick disease are reported together in 6 articles.
Gene
NPC1
- HGNC
- HGNC:7897
7articles
7mentions
3variants with confirmed gene link
Most co-reported phenotypes (articles)
Niemann-Pick disease 6diabetes mellitus 2lysosomal storage disease 2obesity 2Crohn disease 1inflammatory bowel disease 1
Reported variants (articles · ClinVar status)
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
6 records shown · first 60Targeting Pathways Implicated in Cholesterol Metabolism for Novel Cancer Therapy.
PMID 41681900 | PMCID PMC12896992 | DOI 10.3390/cancers18030428 · Cancers · 2026 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | NPC1 | “Cholesterol acts as a metabolic cue that reshapes diverse signaling networks, including hedgehog and several sterol-regulated pathways orchestrated by key proteins, including sterol regulatory element-binding protein 2 (SREBP2), sterol O-acyltransferase 1 (SOAT1), Niemann-Pick type C1 (NPC1), and proprotein convertase subtilisin/kexin type 9 (PCSK9).” | 0.98 | hgnc_dict_v1 |
| phenotype | Niemann-Pick disease | “Cholesterol acts as a metabolic cue that reshapes diverse signaling networks, including hedgehog and several sterol-regulated pathways orchestrated by key proteins, including sterol regulatory element-binding protein 2 (SREBP2), sterol O-acyltransferase 1 (SOAT1), Niemann-Pick type C1 (NPC1), and proprotein convertase subtilisin/kexin type 9 (PCSK9).” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | SOAT1 | “Cholesterol acts as a metabolic cue that reshapes diverse signaling networks, including hedgehog and several sterol-regulated pathways orchestrated by key proteins, including sterol regulatory element-binding protein 2 (SREBP2), sterol O-acyltransferase 1 (SOAT1), Niemann-Pick type C1 (NPC1), and proprotein convertase subtilisin/kexin type 9 (PCSK9).” | 0.98 | hgnc_dict_v1 |
| gene | PCSK9 | “Cholesterol acts as a metabolic cue that reshapes diverse signaling networks, including hedgehog and several sterol-regulated pathways orchestrated by key proteins, including sterol regulatory element-binding protein 2 (SREBP2), sterol O-acyltransferase 1 (SOAT1), Niemann-Pick type C1 (NPC1), and proprotein convertase subtilisin/kexin type 9 (PCSK9).” | 0.98 | hgnc_dict_v1 |
CffDNA screening for Niemann-pick disease, type C1: a case series.
PMID 39161410 | PMCID PMC11330825 | DOI 10.3389/fmed.2024.1390693 · Frontiers in medicine · 2024 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | NPC1 | “This study introduces a novel proof-of-concept assay designed for autosomal recessive (AR) cffDNA screening, focusing on cases involving the NPC1 gene.” | 0.98 | hgnc_dict_v1 |
| phenotype | Niemann-Pick disease | “CffDNA screening for Niemann-pick disease, type C1: a case series.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | AR | “This study introduces a novel proof-of-concept assay designed for autosomal recessive (AR) cffDNA screening, focusing on cases involving the NPC1 gene.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “Three participants for this study were recruited and gave consent to a hospital in Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |
An overview of the role of Niemann-pick C1 (NPC1) in viral infections and inhibition of viral infections through NPC1 inhibitor.
PMID 38098077 | PMCID PMC10722723 | DOI 10.1186/s12964-023-01376-x · Cell communication and signaling : CCS · 2023 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | NPC1 | “An overview of the role of Niemann-pick C1 (NPC1) in viral infections and inhibition of viral infections through NPC1 inhibitor.” | 0.98 | hgnc_dict_v1 |
| phenotype | Niemann-Pick disease | “An overview of the role of Niemann-pick C1 (NPC1) in viral infections and inhibition of viral infections through NPC1 inhibitor.” | 0.93 | phenotype_alias_lexicon_v2 |
| phenotype | lysosomal storage disease | “Its human absence results in Niemann-Pick type C disease, a deadly lysosomal storage disorder.” | 0.93 | phenotype_alias_lexicon_v2 |
Anti-TNF therapy for inflammatory bowel disease in patients with neurodegenerative Niemann-Pick disease Type C.
PMID 35694196 | PMCID PMC9171292 | DOI 10.12688/wellcomeopenres.16986.1 · Wellcome open research · 2022 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | NPC1 | “Niemann-Pick disease Type C1 (NPC1) is a lysosomal storage disorder presenting in childhood with neurological deterioration, liver damage and respiratory infections.” | 0.98 | hgnc_dict_v1 |
| phenotype | Niemann-Pick disease | “Anti-TNF therapy for inflammatory bowel disease in patients with neurodegenerative Niemann-Pick disease Type C.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | inflammatory bowel disease | “Anti-TNF therapy for inflammatory bowel disease in patients with neurodegenerative Niemann-Pick disease Type C.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | Crohn disease | “Background: Blockade of tumour necrosis factor (anti-TNF) is effective in patients with Crohn's Disease but has been associated with infection risk and neurological complications such as demyelination.” | 0.93 | phenotype_alias_lexicon_v2 |
A 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 | 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 |
| 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 | 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 |
Association of Uncoupling Protein 1 (UCP1) gene polymorphism with obesity: a case-control study.
PMID 30458724 | PMCID PMC6247512 | DOI 10.1186/s12881-018-0715-5 · BMC medical genetics · 2018 · 13 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | NPC1 | “The aim of this study was to determine the effect of selected genetic polymorphisms in Uncoupling protein 1 (UCP1) and Niemann-Pick C1 (NPC1) genes in an obese population in Saudi Arabia.” | 0.98 | hgnc_dict_v1 |
| phenotype | Niemann-Pick disease | “The aim of this study was to determine the effect of selected genetic polymorphisms in Uncoupling protein 1 (UCP1) and Niemann-Pick C1 (NPC1) genes in an obese population in Saudi Arabia.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | UCP1 | “Association of Uncoupling Protein 1 (UCP1) gene polymorphism with obesity: a case-control study.” | 0.98 | hgnc_dict_v1 |
| phenotype | obesity | “Association of Uncoupling Protein 1 (UCP1) gene polymorphism with obesity: a case-control study.” | 0.98 | phenotype_alias_lexicon_v2 |