Advanced search
Combine gene, variant, phenotype, region and year filters
Every result shows the extracted entities next to the sentences that support them; rows for the searched entities come first.
Transparent by designEvery result links extracted entities to its source sentence and publication identifier.
Knowledge-base search
About your search
KCNQ1 and Ehlers-Danlos syndrome are reported together in 1 article.
Gene
KCNQ1
- HGNC
- HGNC:6294
24articles
24mentions
6variants with confirmed gene link
Most co-reported phenotypes (articles)
long QT syndrome 9arrhythmia 8diabetes mellitus 8hearing loss 4Ehlers-Danlos syndrome 1Turner syndrome 1congenital myopathy 1coronary artery disease 1
Reported variants (articles · ClinVar status)
Phenotype
Ehlers-Danlos syndrome
19articles
19mentions
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 60Clinical utility of chromosomal microarray and whole exome sequencing in evaluating genetic causes for pregnancy loss using products of conception specimens.
PMID 41331780 | DOI 10.1515/jpm-2025-0240 · Journal of perinatal medicine · 2026 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | KCNQ1 | “WES detected pathogenic or likely pathogenic mutations in 21 genes (e.g., KCNQ1, KCNE1, COL1A2, ROBO1) in 18 cases, adding a 10.46 % diagnostic yield.” | 0.98 | hgnc_dict_v1 |
| phenotype | Ehlers-Danlos syndrome | “K-means clustering grouped 17 of these genes into three pathways: chondrocyte differentiation, fibrin clot formation, and Ehlers-Danlos syndrome.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | KCNE1 | “WES detected pathogenic or likely pathogenic mutations in 21 genes (e.g., KCNQ1, KCNE1, COL1A2, ROBO1) in 18 cases, adding a 10.46 % diagnostic yield.” | 0.98 | hgnc_dict_v1 |
| gene | COL1A2 | “WES detected pathogenic or likely pathogenic mutations in 21 genes (e.g., KCNQ1, KCNE1, COL1A2, ROBO1) in 18 cases, adding a 10.46 % diagnostic yield.” | 0.98 | hgnc_dict_v1 |