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
PAX6 and congenital cataract are reported together in 2 articles.
Gene
PAX6
- HGNC
- HGNC:8620
12articles
12mentions
1variants with confirmed gene link
Most co-reported phenotypes (articles)
congenital cataract 2primary congenital glaucoma 2COVID-19 1diabetes mellitus 1intellectual disability 1
Reported variants (articles · ClinVar status)
Phenotype
Congenital cataract
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
2 records shown · first 60Congenital Aniridia and Ocular motility.
PMID 36375586 | DOI 10.1016/j.ajo.2022.11.003 · American journal of ophthalmology · 2023 · 2 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PAX6 | “PAX6 mutation was found in 56 patients (77%).” | 0.98 | hgnc_dict_v1 |
| phenotype | congenital cataract | “PURPOSE: To study the frequency and types of strabismus in congenital aniridia, the presence of associated nystagmus, foveal hypoplasia, and congenital cataracts.” | 0.93 | phenotype_alias_lexicon_v2 |
A novel syndrome of abnormal striatum and congenital cataract: evidence for linkage to chromosomes 11.
PMID 23181898 | DOI 10.1111/cge.12066 · Clinical genetics · 2013 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PAX6 | “Targeted sequencing of two candidate genes within the linkage interval (PAX6 and B3GALTL) as well as mtDNA genome sequencing did not reveal any putative mutations.” | 0.98 | hgnc_dict_v1 |
| phenotype | congenital cataract | “A novel syndrome of abnormal striatum and congenital cataract: evidence for linkage to chromosomes 11.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | intellectual disability | “The phenotype is strikingly similar between affected siblings with cognitive impairment, attention deficit hyperactivity disorder (ADHD), microcephaly, growth retardation, congenital cataract, and dystonia.” | 0.93 | phenotype_alias_lexicon_v2 |
| population | Population | “We report a consanguineous family of three girls and one boy affected with a novel syndrome involving the lens and the basal ganglia.” | 0.80 | saudi_context_rules_v1 |