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Phenotype
Arrhythmia
555articles
555mentions
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 60In Silico Characterization of Pathogenic Homeodomain Missense Mutations in the PITX2 Gene.
PMID 38802693 | DOI 10.1007/s10528-024-10836-z · Biochemical genetics · 2025 · 17 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | arrhythmia | “Mutations in PITX2 are consistently reported in association with Axenfeld-Rieger syndrome, an autosomal dominant genetic disorder and atrial fibrillation, a common cardiac arrhythmia.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | R86K | “Fifteen homeodomain mutations G42V, G42R, R45W, S49Y, R53W, E53D, E55V, R62H, P65S, R69H, G75R, R84G, R86K, R87W, R91P were found to be highly pathogenic by both SIFT, PolyPhen2 were further functionally characterized using I-Mutant 2.0, Consurf, MutPred and Project Hope.” | 0.82 | literature_variant_regex_v2 |
| gene | PITX2 | “In Silico Characterization of Pathogenic Homeodomain Missense Mutations in the PITX2 Gene.” | 0.98 | hgnc_dict_v1 |
| variant | G42V | “Fifteen homeodomain mutations G42V, G42R, R45W, S49Y, R53W, E53D, E55V, R62H, P65S, R69H, G75R, R84G, R86K, R87W, R91P were found to be highly pathogenic by both SIFT, PolyPhen2 were further functionally characterized using I-Mutant 2.0, Consurf, MutPred and Project Hope.” | 0.82 | literature_variant_regex_v2 |