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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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IPO8 and intellectual disability are reported together in 1 article.
Gene
IPO8
- HGNC
- HGNC:9853
4articles
4mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Intellectual disability
- HPO
- HP:0001249
736articles
736mentions
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 60Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders.
PMID 33875846 | PMCID PMC8354858 | DOI 10.1038/s41436-021-01159-0 · Genetics in medicine : official journal of the American College of Medical Genetics · 2021 · 8 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | IPO8 | “RESULTS: We propose six novel gene-disease associations based on 38 patients with variants in the BLOC1S1, IPO8, MMP15, PLK1, RAP1GDS1, and ZNF699 genes.” | 0.98 | hgnc_dict_v1 |
| phenotype | intellectual disability | “For the latter, we focused on de novo variants in patients that presented with neurodevelopmental delay (NDD) and/or intellectual disability (ID), which are the most common reasons for genetic testing referrals.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | BLOC1S1 | “RESULTS: We propose six novel gene-disease associations based on 38 patients with variants in the BLOC1S1, IPO8, MMP15, PLK1, RAP1GDS1, and ZNF699 genes.” | 0.98 | hgnc_dict_v1 |
| gene | MMP15 | “RESULTS: We propose six novel gene-disease associations based on 38 patients with variants in the BLOC1S1, IPO8, MMP15, PLK1, RAP1GDS1, and ZNF699 genes.” | 0.98 | hgnc_dict_v1 |