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COL1A2 and osteogenesis imperfecta are reported together in 3 articles.
Gene
COL1A2
- HGNC
- HGNC:2198
10articles
10mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Osteogenesis imperfecta
27articles
27mentions
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
3 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 | COL1A2 | “Osteogenesis imperfecta is commonly associated with mutations of the genes encoding for type I collagen (COL1A1/COL1A2).” | 0.98 | hgnc_dict_v1 |
| phenotype | osteogenesis imperfecta | “Detection of a Recurrent TMEM38B Gene Deletion Associated with Recessive Osteogenesis Imperfecta.” | 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 | COL1A1 | “Osteogenesis imperfecta is commonly associated with mutations of the genes encoding for type I collagen (COL1A1/COL1A2).” | 0.98 | hgnc_dict_v1 |
Diagnostic utility of next-generation sequence genetic panel testing in children presenting with a clinically significant fracture history.
PMID 34091789 | DOI 10.1007/s11657-021-00943-4 · Archives of osteoporosis · 2021 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | COL1A2 | “In subjects with extra-skeletal clinical OI features, 69% were found to have pathogenic variants in COL1A1 or COL1A2.” | 0.98 | hgnc_dict_v1 |
| phenotype | osteogenesis imperfecta | “UNLABELLED: We assessed the diagnostic utility of genetic panel testing to detect pathogenic variants associated with osteogenesis imperfecta in children presenting with multiple fractures.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | COL1A1 | “In subjects with extra-skeletal clinical OI features, 69% were found to have pathogenic variants in COL1A1 or COL1A2.” | 0.98 | hgnc_dict_v1 |
| gene | PLS3 | “In children without extra-skeletal features, 14 of 70 (20%) had pathogenic variants, of which 7 were variants in type 1 collagen, and the remaining 7 variants were associated with osteoblast function or signaling (PLS3, SP7, LRP5).” | 0.98 | hgnc_dict_v1 |
Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation.
PMID 23054245 | DOI 10.1136/jmedgenet-2012-101142 · Journal of medical genetics · 2012 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | COL1A2 | “METHODS: We enrolled multiplex consanguineous families and simplex cases (also consanguineous) in which mutations in COL1A1 and COL1A2 had been excluded.” | 0.98 | hgnc_dict_v1 |
| phenotype | osteogenesis imperfecta | “Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | TMEM38B | “Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation.” | 0.98 | hgnc_dict_v1 |
| gene | AR | “An expanding list of genes that encode proteins related to collagen metabolism are now recognised as important causes of autosomal recessive (AR) OI.” | 0.98 | hgnc_dict_v1 |