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APTX and familial hypercholesterolemia are reported together in 1 article.
Gene
APTX
- HGNC
- HGNC:15984
3articles
3mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Familial hypercholesterolemia
- HPO
- HP:0003124
- OMIM
- 143890
165articles
165mentions
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 60Ataxia with oculomotor apraxia type 1 associated with mutation in the APTX gene: A case study and literature review.
PMID 36382100 | PMCID PMC9638520 | DOI 10.3892/etm.2022.11645 · Experimental and therapeutic medicine · 2022 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | APTX | “Ataxia with oculomotor apraxia type 1 associated with mutation in the APTX gene: A case study and literature review.” | 0.98 | hgnc_dict_v1 |
| phenotype | familial hypercholesterolemia | “Ocular apraxia is most prominent in the early stages of the disease, while hypoalbuminemia, hypercholesterolemia and cognitive impairment are common symptoms in the adult stage.” | 0.93 | phenotype_alias_lexicon_v2 |
| phenotype | intellectual disability | “Ocular apraxia is most prominent in the early stages of the disease, while hypoalbuminemia, hypercholesterolemia and cognitive impairment are common symptoms in the adult stage.” | 0.93 | phenotype_alias_lexicon_v2 |
| variant | c.751C>T | “Mutations in the APTX gene c.751C>T p.(His251Tyr) were detected with probable homozygosity in the APTX gene (chromosome 9) that encodes a nuclear protein called aprataxin that is involved in DNA repair.” | 0.95 | hgvs_regex_v1 |