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
Publications
1 records shown · first 60Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindred.
PMID 27475985 | PMCID PMC4967317 | DOI 10.1186/s12881-016-0314-2 · BMC medical genetics · 2016 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | p.Ala710Val | “Sequencing of GUCY2D identified a novel missense mutation (c.2129C>T; p.Ala710Val) resulting in substitution of alanine by valine at position 710 within the protein kinase domain of the retina-specific enzyme guanylate cyclase 1 (GC1) encoded by GUCY2D.” | 0.95 | hgvs_regex_v1 |
| gene | GUCY2D | “Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindred.” | 0.98 | hgnc_dict_v1 |
| phenotype | Leber congenital amaurosis | “Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindred.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | congenital cataract | “Cataract was found in 5 of 16 eyes.” | 0.93 | phenotype_alias_lexicon_v2 |