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PTS and phenylketonuria are reported together in 1 article.
Gene
PTS
- HGNC
- HGNC:9689
3articles
3mentions
1variants with confirmed gene link
Most co-reported phenotypes (articles)
Reported variants (articles · ClinVar status)
Phenotype
Phenylketonuria
29articles
29mentions
6co-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 60BH4-deficient hyperphenylalaninemia in Russia.
PMID 33822819 | PMCID PMC8023510 | DOI 10.1371/journal.pone.0249608 · PloS one · 2021 · 9 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PTS | “The mutation spectrum for the PTS gene was defined, the most common variants in Russia were p.Thr106Met-32%, p.Asn72Lys-20%, p.Arg9His-8%, p.Ser32Gly-6%.” | 0.98 | hgnc_dict_v1 |
| phenotype | phenylketonuria | “Often HPABH4 patients receive the same therapy as phenylalanine hydroxylase (PAH) -deficiency (phenylketonuria) patients-dietary treatment-and do not receive substitutive BH4 therapy until the diagnosis is confirmed by molecular genetic means.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | PAH | “Often HPABH4 patients receive the same therapy as phenylalanine hydroxylase (PAH) -deficiency (phenylketonuria) patients-dietary treatment-and do not receive substitutive BH4 therapy until the diagnosis is confirmed by molecular genetic means.” | 0.98 | hgnc_dict_v1 |
| gene | QDPR | “We also detected 7 novel PTS variants and 3 novel QDPR variants.” | 0.98 | hgnc_dict_v1 |