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
AR and developmental delay are reported together in 1 article.
Gene
AR
- HGNC
- HGNC:644
61articles
61mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Developmental delay
- HPO
- HP:0001263
480articles
480mentions
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 60A novel X-linked disorder with developmental delay and autistic features.
PMID 22213401 | DOI 10.1002/ana.22673 · Annals of neurology · 2012 · 9 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | AR | “INTERPRETATION: Xq12-q13.3 duplication is a novel global developmental delay and autism-predisposing chromosomal aberration; pathogenesis of which may be mediated by increased dosage of genes contained in the duplication, including NLGN3, OPHN1, AR, EFNB1, TAF1, GJB1, and MED12.” | 0.98 | hgnc_dict_v1 |
| phenotype | developmental delay | “A novel X-linked disorder with developmental delay and autistic features.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | NLGN3 | “INTERPRETATION: Xq12-q13.3 duplication is a novel global developmental delay and autism-predisposing chromosomal aberration; pathogenesis of which may be mediated by increased dosage of genes contained in the duplication, including NLGN3, OPHN1, AR, EFNB1, TAF1, GJB1, and MED12.” | 0.98 | hgnc_dict_v1 |
| gene | OPHN1 | “INTERPRETATION: Xq12-q13.3 duplication is a novel global developmental delay and autism-predisposing chromosomal aberration; pathogenesis of which may be mediated by increased dosage of genes contained in the duplication, including NLGN3, OPHN1, AR, EFNB1, TAF1, GJB1, and MED12.” | 0.98 | hgnc_dict_v1 |