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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.
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COL1A1 and developmental delay are reported together in 1 article.
Gene
COL1A1
- HGNC
- HGNC:2197
32articles
32mentions
10variants with confirmed gene link (top 10)
Most co-reported phenotypes (articles)
Ehlers-Danlos syndrome 3osteogenesis imperfecta 3Duchenne muscular dystrophy 1asthma 1cystic fibrosis 1developmental delay 1endometrial cancer 1hepatocellular carcinoma 1
Reported variants (articles · ClinVar status)
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 60Detection of a Recurrent TMEM38B Gene Deletion Associated with Recessive Osteogenesis Imperfecta.
PMID 34036147 | PMCID PMC8140756 | DOI 10.15190/d.2021.3 · Discoveries (Craiova, Romania) · 2021 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | COL1A1 | “Osteogenesis imperfecta is commonly associated with mutations of the genes encoding for type I collagen (COL1A1/COL1A2).” | 0.98 | hgnc_dict_v1 |
| phenotype | developmental delay | “Our patient was an eight-month-old child with short limbs, club feet, and lower limb deformities with developmental delay.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | TMEM38B | “Detection of a Recurrent TMEM38B Gene Deletion Associated with Recessive Osteogenesis Imperfecta.” | 0.98 | hgnc_dict_v1 |
| gene | COL1A2 | “Osteogenesis imperfecta is commonly associated with mutations of the genes encoding for type I collagen (COL1A1/COL1A2).” | 0.98 | hgnc_dict_v1 |