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ALDH7A1 and neurodevelopmental disorder are reported together in 2 articles.
Gene
ALDH7A1
- HGNC
- HGNC:877
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
2 records shown · first 60Genomic analysis of multiplex consanguineous families reveals causes of neurodevelopmental disorders with epilepsy.
PMID 37393059 | DOI 10.1016/j.gene.2023.147599 · Gene · 2023 · 12 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | ALDH7A1 | “We identified four novel homozygous variants including nonsense andmissense variants in OCLN, ALDH7A1, IQSEC2 and COL3A1, segregating with the phenotypes in the participants of four families.” | 0.98 | hgnc_dict_v1 |
| phenotype | neurodevelopmental disorder | “Genomic analysis of multiplex consanguineous families reveals causes of neurodevelopmental disorders with epilepsy.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | OCLN | “We identified four novel homozygous variants including nonsense andmissense variants in OCLN, ALDH7A1, IQSEC2 and COL3A1, segregating with the phenotypes in the participants of four families.” | 0.98 | hgnc_dict_v1 |
| gene | IQSEC2 | “We identified four novel homozygous variants including nonsense andmissense variants in OCLN, ALDH7A1, IQSEC2 and COL3A1, segregating with the phenotypes in the participants of four families.” | 0.98 | hgnc_dict_v1 |
Prospect of genetic disorders in Saudi Arabia.
PMID 37799141 | PMCID PMC10548463 | DOI 10.3389/fgene.2023.1243518 · Frontiers in genetics · 2023 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | ALDH7A1 | “We illustrated the presence of rare treatable conditions in DNAJC12, SLC19A3, and ALDH7A1, and the presence of the founder effect variant in SKIC2.” | 0.98 | hgnc_dict_v1 |
| phenotype | neurodevelopmental disorder | “Neurodevelopmental disorders were the main phenotype for which genetics studies were required (35.7%).” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | DNAJC12 | “We illustrated the presence of rare treatable conditions in DNAJC12, SLC19A3, and ALDH7A1, and the presence of the founder effect variant in SKIC2.” | 0.98 | hgnc_dict_v1 |
| gene | SLC19A3 | “We illustrated the presence of rare treatable conditions in DNAJC12, SLC19A3, and ALDH7A1, and the presence of the founder effect variant in SKIC2.” | 0.98 | hgnc_dict_v1 |