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
Phenotype
Skeletal dysplasia
49articles
49mentions
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 60Liver disease and other comorbidities in Wolcott-Rallison syndrome: different phenotype and variable associations in a large cohort.
PMID 25659842 | PMCID PMC4464042 | DOI 10.1159/000369804 · Hormone research in paediatrics · 2015 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | skeletal dysplasia | “BACKGROUND: Wolcott-Rallison syndrome (WRS) is caused by recessive EIF2AK3 mutations and characterized by early-onset diabetes and skeletal dysplasia.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | p.I650T | “The p.S991N mutation was associated with prolonged survival and p.I650T with delayed onset.” | 0.95 | hgvs_regex_v1 |
| gene | EIF2AK3 | “BACKGROUND: Wolcott-Rallison syndrome (WRS) is caused by recessive EIF2AK3 mutations and characterized by early-onset diabetes and skeletal dysplasia.” | 0.98 | hgnc_dict_v1 |
| phenotype | diabetes mellitus | “BACKGROUND: Wolcott-Rallison syndrome (WRS) is caused by recessive EIF2AK3 mutations and characterized by early-onset diabetes and skeletal dysplasia.” | 0.93 | phenotype_alias_lexicon_v2 |