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
MERTK and retinal dystrophy are reported together in 2 articles.
Gene
MERTK
- HGNC
- HGNC:7027
5articles
5mentions
1variants with confirmed gene link
Most co-reported phenotypes (articles)
Reported variants (articles · ClinVar status)
Phenotype
Retinal dystrophy
- HPO
- HP:0000556
121articles
121mentions
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 60PHENOTYPE-GUIDED GENETIC TESTING OF PEDIATRIC INHERITED RETINAL DISEASE IN THE UNITED ARAB EMIRATES.
PMID 31725702 | DOI 10.1097/IAE.0000000000002675 · Retina (Philadelphia, Pa.) · 2020 · 11 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | MERTK | “Recurrent specific gene mutations included ABCA4 p.Gly1961Glu/p.Leu857Pro, KCNV2 p.Glu143*, MERTK p.Cys738Trpfs*32, and RS1 c.52+3A>G.” | 0.98 | hgnc_dict_v1 |
| phenotype | retinal dystrophy | “PHENOTYPE-GUIDED GENETIC TESTING OF PEDIATRIC INHERITED RETINAL DISEASE IN THE UNITED ARAB EMIRATES.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | ABCA4 | “The most frequently mutated genes (and number of probands) were ABCA4 (14), KCNV2 (8), CRB1 (6), and CNGA3 (5).” | 0.98 | hgnc_dict_v1 |
| gene | KCNV2 | “The most frequently mutated genes (and number of probands) were ABCA4 (14), KCNV2 (8), CRB1 (6), and CNGA3 (5).” | 0.98 | hgnc_dict_v1 |
Novel mutations in MERTK associated with childhood onset rod-cone dystrophy.
PMID 20300561 | PMCID PMC2838735 · Molecular vision · 2010 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | MERTK | “Novel mutations in MERTK associated with childhood onset rod-cone dystrophy.” | 0.98 | hgnc_dict_v1 |
| phenotype | retinal dystrophy | “PURPOSE: To report the clinical phenotype in patients with a retinal dystrophy associated with novel mutations in the MER tyrosine kinase (MERTK) gene.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | RGR | “The positional candidate genes protocadherin 21 (PCDH21), retinal G protein-coupled receptor (RGR), and MERTK were polymerase chain reaction (PCR) amplified and sequenced.” | 0.98 | hgnc_dict_v1 |
| phenotype | Leber congenital amaurosis | “Two hundred and ninety-two probands with autosomal recessive, childhood onset, retinal dystrophies were analyzed using the Asper Ophthalmics Leber congenital amaurosis chip to screen for known MERTK mutations.” | 0.98 | phenotype_alias_lexicon_v2 |