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 inflammatory bowel disease are reported together in 1 article.
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
Inflammatory bowel disease
693articles
693mentions
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 60Anti-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 | 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 | 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 | 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 |