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AR and osteogenesis imperfecta are reported together in 1 article.
Gene
AR
- HGNC
- HGNC:644
61articles
61mentions
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
1 records shown · first 60Study 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 | 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 |
| 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 | COL1A1 | “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 |