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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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QDPR and epilepsy are reported together in 1 article.
Gene
QDPR
- HGNC
- HGNC:9752
2articles
2mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Epilepsy
- HPO
- HP:0001250
2,084articles
2,084mentions
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 60Localization of the gene for a novel autosomal recessive neurodegenerative Huntington-like disorder to 4p15.3.
PMID 10677304 | PMCID PMC1288097 | DOI 10.1086/302744 · American journal of human genetics · 2000 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | QDPR | “Among the three known genes residing in the linked interval (ACOX3, DRD5, QDPR), the most likely candidate, DRD5, encoding the dopamine receptor D5, was excluded, since all five affected family members were heterozygous for an intragenic dinucleotide repeat.” | 0.98 | hgnc_dict_v1 |
| phenotype | epilepsy | “The disease manifests at approximately 3-4 years and is characterized by both pyramidal and extrapyramidal abnormalities, including chorea, dystonia, ataxia, gait instability, spasticity, seizures, mutism, and intellectual impairment.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | ACOX3 | “Among the three known genes residing in the linked interval (ACOX3, DRD5, QDPR), the most likely candidate, DRD5, encoding the dopamine receptor D5, was excluded, since all five affected family members were heterozygous for an intragenic dinucleotide repeat.” | 0.98 | hgnc_dict_v1 |
| gene | DRD5 | “Among the three known genes residing in the linked interval (ACOX3, DRD5, QDPR), the most likely candidate, DRD5, encoding the dopamine receptor D5, was excluded, since all five affected family members were heterozygous for an intragenic dinucleotide repeat.” | 0.98 | hgnc_dict_v1 |