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
ALKBH8 and neurodevelopmental disorder are reported together in 1 article.
Gene
ALKBH8
- HGNC
- HGNC:25189
5articles
5mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Neurodevelopmental disorder
- HPO
- HP:0012759
450articles
450mentions
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 60Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant.
PMID 33544954 | PMCID PMC8450764 | DOI 10.1002/ajmg.a.62100 · American journal of medical genetics. Part A · 2021 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | ALKBH8 | “Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant.” | 0.98 | hgnc_dict_v1 |
| phenotype | neurodevelopmental disorder | “Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | intellectual disability | “Two affected siblings in this family exhibit global developmental delay and intellectual disability as shared characteristic features of MRT71 syndrome, and we further characterize their observed dysmorphic features and brain MRI findings.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | developmental delay | “Two affected siblings in this family exhibit global developmental delay and intellectual disability as shared characteristic features of MRT71 syndrome, and we further characterize their observed dysmorphic features and brain MRI findings.” | 0.98 | phenotype_alias_lexicon_v2 |