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CYP51A1 and developmental delay are reported together in 1 article.
Gene
CYP51A1
- HGNC
- HGNC:2649
6articles
6mentions
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 60Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract.
PMID 27878435 | PMCID PMC5783298 | DOI 10.1007/s00439-016-1747-6 · Human genetics · 2017 · 10 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CYP51A1 | “We also highlight a recognizable syndrome that resembles galactosemia (a fulminant infantile liver disease with cataract) caused by biallelic mutations in CYP51A1.” | 0.98 | hgnc_dict_v1 |
| phenotype | developmental delay | “GEMIN4 was independently mutated in families with a syndrome of cataract, global developmental delay with or without renal involvement.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | GEMIN4 | “GEMIN4 was independently mutated in families with a syndrome of cataract, global developmental delay with or without renal involvement.” | 0.98 | hgnc_dict_v1 |
| gene | RIC1 | “A founder mutation in RIC1 (KIAA1432) was identified in patients with cataract, brain atrophy, microcephaly with or without cleft lip and palate.” | 0.98 | hgnc_dict_v1 |