Disease #01481 (OI1 (osteogenesis imperfecta, type I (OI1)), OMIM:166200)

Official abbreviation OI1
Name osteogenesis imperfecta, type I (OI1)
OMIM ID 166200
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 1440
Phenotype entries for this disease 102
Associated with 1 gene COL1A1
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-05-16 21:56:46 +02:00 (CEST)


Individuals

1440 entries on 15 pages. Showing entries 1 - 100.
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VIP     
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Genes screened
Variants in genes
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Owner     
00079996 - - - M no Azerbaijan white - - - - OI1 - COL1A1 COL1A1 1 1 Nicolai Kohlschmidt
00131877 - - - - - Germany - - - - - OI1 - COL1A2 COL1A2 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00231402 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - F no Japan Japanese - - - - OI1 mild; no blue sclera (-HP:0000592); no deformities lower extremity; recurrent fractures (HP:0002757); - COL1A1 1 1 Yousuke Higuchi
00231403 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - M no Japan Japanese - - - - OI1 mild; blue sclera (HP:0000592); dentinogenesis imperfecta (HP:0000703); deafness (HP:0000365); no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) - COL1A1 1 1 Yousuke Higuchi
00231404 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - F no Japan Japanese - - - - OI1 mild; blue sclera (HP:0000592); dentinogenesis imperfecta (HP:0000703); no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) - COL1A1 1 1 Yousuke Higuchi
00231405 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - M no Japan Japanese - - - - OI1 mild; no deformities lower extremity; recurrent fractures (HP:0002757); - COL1A1 1 1 Yousuke Higuchi
00231406 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - F no Japan Japanese - - - - OI1 mild; blue sclera (HP:0000592); no dentinogenesis imperfecta (-HP:0000703); no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) - COL1A1 1 2 Yousuke Higuchi
00231407 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - F no Japan Japanese - - - - OI1 mild; blue sclera (HP:0000592); no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) - COL1A1 1 2 Yousuke Higuchi
00231408 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - F no Japan Japanese - - - - OI1 mild; blue sclera (HP:0000592); no deformities lower extremity; recurrent fractures (HP:0002757); - COL1A1 1 1 Yousuke Higuchi
00231409 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - F no Japan Japanese - - - - OI1 mild; blue sclera (HP:0000592); no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) - COL1A1 1 1 Yousuke Higuchi
00231410 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - M no Japan Japanese - - - - OI1 mild; blue sclera (HP:0000592); no deformities lower extremity; no recurrent fractures (-HP:0002757); no bone fragility (-HP:0002659) - COL1A1 1 1 Yousuke Higuchi
00231411 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - M no Japan Japanese - - - - OI1 mild; blue sclera (HP:0000592); no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) - COL1A1 1 1 Yousuke Higuchi
00260782 III-11 - - M no China chinese >08y - yes alendronate OI1, SSOAOD (HP:0004322) Short stature, 1 fracture, (HP:0000703) Dentinogenesis imperfecta, (HP:0002980) Femoral bowing, (HP:0000592) Blue sclerae ACAN, COL1A1 ACAN, COL1A1 2 13 Wenjuan Qiu
00260851 III-9 - - F no China chinese - - yes - OI1, SSOAOD 2 fracture, short stature (HP:0004322) ACAN, COL1A1 ACAN, COL1A1 2 1 Wenjuan Qiu
00261189 lsz - - F no China chinese - - yes - OI1 - COL1A1 COL1A1 2 1 Wenjuan Qiu
00261190 I-2 - - F no China chinese - - yes - OI1 - COL1A1 COL1A1 1 1 Wenjuan Qiu
00261191 II-1 - - M no China chinese - - yes - OI1 - COL1A1 COL1A1 1 1 Wenjuan Qiu
00261192 II-5 - - M no China chinese - - yes - OI1 - COL1A1 COL1A1 1 1 Wenjuan Qiu
00261193 III-1 - - M no China chinese - - yes - OI1 - COL1A1 COL1A1 1 1 Wenjuan Qiu
00295738 - - - - - Portugal - - - - - OI1 - - COL1A1 1 1 Andre Travessa
00299748 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - F no Japan Japanese - - - - OI1 mild; blue sclera (HP:0000592); no deformities lower extremity; no recurrent fractures (-HP:0002757); no bone fragility (-HP:0002659) COL1A1 COL1A1 1 1 Yousuke Higuchi
00299749 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - M no Japan Japanese - - - - OI1 mild; blue sclera (HP:0000592); dentinogenesis imperfecta (HP:0000703); no deafness (-HP:0000365); no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) COL1A1 COL1A1 1 1 Yousuke Higuchi
00299750 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - M no Japan Japanese - - - - OI1 mild; blue sclera (HP:0000592); no dentinogenesis imperfecta (-HP:0000703); no deafness (-HP:0000365); no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) COL1A1 COL1A1 1 2 Yousuke Higuchi
00299751 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - M no Japan Japanese - - - - OI1 mild; blue sclera (HP:0000592); no dentinogenesis imperfecta (-HP:0000703); deafness (HP:0000365); no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) COL1A1 COL1A1 1 1 Yousuke Higuchi
00299752 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - F no Japan Japanese - - - - OI1 mild; blue sclera (HP:0000592); dentinogenesis imperfecta (HP:0000703); deafness (HP:0000365); no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) COL1A1 COL1A1 1 1 Yousuke Higuchi
00299753 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - F - Japan Japanese - - - - OI1 mild; blue sclera (HP:0000592); no dentinogenesis imperfecta (-HP:0000703); no deafness (-HP:0000365); no deformities lower extremity; no recurrent fractures (-HP:0002757); no bone fragility (-HP:0002659) COL1A1 COL1A1 1 3 Yousuke Higuchi
00299754 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - F no Japan Japanese - - - - OI1 mild; blue sclera (HP:0000592); no dentinogenesis imperfecta (-HP:0000703); no deafness (-HP:0000365); no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) COL1A1 COL1A1 1 1 Yousuke Higuchi
00299755 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - F no Japan Japanese - - - - OI1 mild; no deformities lower extremity; COL1A1 COL1A1 1 2 Yousuke Higuchi
00299756 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - M no Japan Japanese - - - - OI1 mild; blue sclera (HP:0000592); no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) COL1A1 COL1A1 1 1 Yousuke Higuchi
00299757 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - M no Japan Japanese - - - - OI1 mild; blue sclera (HP:0000592); no dentinogenesis imperfecta (-HP:0000703); no deformities lower extremity; no recurrent fractures (-HP:0002757); bone fragility (-HP:0002659) COL1A1 COL1A1 1 1 Yousuke Higuchi
00299758 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - M no Japan Japanese - - - - OI1 mild; blue sclera (HP:0000592); no deformities lower extremity; no recurrent fractures (-HP:0002757); no bone fragility (-HP:0002659) COL1A1 COL1A1 1 2 Yousuke Higuchi
00299759 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - M no Japan Japanese - - - - OI1 mild; blue sclera (HP:0000592); no dentinogenesis imperfecta (-HP:0000703); no deafness (-HP:0000365); no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) COL1A1 COL1A1 1 1 Yousuke Higuchi
00299760 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - F no Japan Japanese - - - - OI1 mild; no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) COL1A1 COL1A1 1 1 Yousuke Higuchi
00299761 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - F no Japan Japanese - - - - OI1 mild; blue sclera (HP:0000592); no deafness (-HP:0000365); no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) COL1A1 COL1A1 1 2 Yousuke Higuchi
00299762 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - M no Japan - - - - - OI1 mild; blue sclera (HP:0000592); no deformities lower extremity; no recurrent fractures (-HP:0002757); bone fragility (-HP:0002659) COL1A1 COL1A1 1 2 Yousuke Higuchi
00299763 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - M - Japan Japanese - - - - OI1 mild; blue sclera (HP:0000592); dentinogenesis imperfecta (HP:0000703); no deformities lower extremity; no recurrent fractures (-HP:0002757); bone fragility (-HP:0002659) COL1A1 COL1A1 1 2 Yousuke Higuchi
00299764 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - F no Japan Japanese - - - - OI1 mild; no deformities lower extremity; COL1A1 COL1A1 1 1 Yousuke Higuchi
00299765 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - M no Japan Japanese - - - - OI1 mild; blue sclera (HP:0000592); dentinogenesis imperfecta (HP:0000703); no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) COL1A1 COL1A1 1 2 Yousuke Higuchi
00299766 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - M no Japan Japanese - - - - OI1 mild; blue sclera (HP:0000592); no deformities lower extremity; no recurrent fractures (-HP:0002757); bone fragility (-HP:0002659) COL1A1 COL1A1 1 1 Yousuke Higuchi
00299767 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - M no Japan Japanese - - - - OI1 mild; blue sclera (HP:0000592); no dentinogenesis imperfecta (-HP:0000703); no deafness (-HP:0000365); no deformities lower extremity; recurrent fractures (HP:0002757); COL1A1 COL1A1 1 2 Yousuke Higuchi
00299768 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - M no Japan Japanese - - - - OI1 mild; blue sclera (HP:0000592); no deformities lower extremity; no recurrent fractures (-HP:0002757); no bone fragility (-HP:0002659) COL1A1 COL1A1 1 3 Yousuke Higuchi
00299769 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - F no Japan Japanese - - - - OI1 mild; no deformities lower extremity; no recurrent fractures (-HP:0002757); no bone fragility (-HP:0002659) COL1A1 COL1A1 1 1 Yousuke Higuchi
00299770 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - M no Japan Japanese - - - - OI1 mild; blue sclera (HP:0000592); no dentinogenesis imperfecta (-HP:0000703); no deafness (-HP:0000365); no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) COL1A1 COL1A1 1 3 Yousuke Higuchi
00299771 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - M no Japan Japanese - - - - OI1 mild; blue sclera (HP:0000592); no dentinogenesis imperfecta (-HP:0000703); no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) COL1A1 COL1A1 1 2 Yousuke Higuchi
00299772 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - F no Japan Japanese - - - - OI1 mild; blue sclera (HP:0000592); no dentinogenesis imperfecta (-HP:0000703); deafness (HP:0000365); no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) COL1A1 COL1A1 1 1 Yousuke Higuchi
00299774 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - M no Japan Japanese - - - - OI1 mild; blue sclera (HP:0000592); no dentinogenesis imperfecta (-HP:0000703); no deafness (-HP:0000365); no deformities lower extremity; recurrent fractures (HP:0002757); COL1A1 COL1A1 1 5 Yousuke Higuchi
00299775 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - M no Japan Japanese - - - - OI1 mild; blue sclera (HP:0000592); no dentinogenesis imperfecta (-HP:0000703); no deafness (-HP:0000365); no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) COL1A1 COL1A1 1 1 Yousuke Higuchi
00299776 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - M no Japan Japanese - - - - OI1 mild; blue sclera (HP:0000592); no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) COL1A1 COL1A1 1 1 Yousuke Higuchi
00299777 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - M no Japan Japanese - - - - OI1 mild; blue sclera (HP:0000592); no dentinogenesis imperfecta (-HP:0000703); no deafness (-HP:0000365); no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) COL1A1 COL1A1 1 1 Yousuke Higuchi
00299778 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - M no Japan Japanese - - - - OI1 mild; blue sclera (HP:0000592); dentinogenesis imperfecta (HP:0000703); no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) COL1A1 COL1A1 1 3 Yousuke Higuchi
00299779 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - M no Japan Japanese - - - - OI1 mild; blue sclera (HP:0000592); no dentinogenesis imperfecta (-HP:0000703); no deformities lower extremity; recurrent fractures (HP:0002757); COL1A1 COL1A1 1 2 Yousuke Higuchi
00299780 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - F no Japan Japanese - - - - OI1 mild; blue sclera (HP:0000592); no deformities lower extremity; no recurrent fractures (-HP:0002757); bone fragility (-HP:0002659) COL1A1 COL1A1 1 2 Yousuke Higuchi
00299781 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - F no Japan Japanese - - - - OI1 mild; no deformities lower extremity; COL1A1 COL1A1 1 2 Yousuke Higuchi
00299782 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - F - Japan Japanese - - - - OI1 mild; blue sclera (HP:0000592); dentinogenesis imperfecta (HP:0000703); no deafness (-HP:0000365); no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) COL1A1 COL1A1 1 4 Yousuke Higuchi
00299930 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - M - Japan Japanese - - - - OI1 mild; blue sclera (HP:0000592); dentinogenesis imperfecta (HP:0000703); no deafness (-HP:0000365); no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) COL1A1 COL1A1 1 1 Yousuke Higuchi
00299931 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - F - Japan Japanese - - - - OI1 mild; blue sclera (HP:0000592); no dentinogenesis imperfecta (-HP:0000703); no deafness (-HP:0000365); no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) COL1A1 COL1A1 1 1 Yousuke Higuchi
00299932 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - M - Japan Japanese - - - - OI1 mild; blue sclera (HP:0000592); no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) COL1A1 COL1A1 1 1 Yousuke Higuchi
00299933 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - M - Japan Japanese - - - - OI1 mild; blue sclera (HP:0000592); no dentinogenesis imperfecta (-HP:0000703); no deafness (-HP:0000365); no deformities lower extremity; recurrent fractures (HP:0002757); no bone fragility (-HP:0002659) COL1A1 COL1A1 1 1 Yousuke Higuchi
00299934 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - M - Japan Japanese - - - - OI1 mild; no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) COL1A1 COL1A1 1 1 Yousuke Higuchi
00299935 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - M - Japan Japanese - - - - OI1 mild; blue sclera (HP:0000592); no dentinogenesis imperfecta (-HP:0000703); no deafness (-HP:0000365); no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) COL1A1 COL1A1 1 1 Yousuke Higuchi
00299936 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - F - Japan Japanese - - - - OI1 mild; blue sclera (HP:0000592); no dentinogenesis imperfecta (-HP:0000703); no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) COL1A1 COL1A1 1 1 Yousuke Higuchi
00299937 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - M - Japan Japanese - - - - OI1 mild; blue sclera (HP:0000592); no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) COL1A1 COL1A1 1 1 Yousuke Higuchi
00299938 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - F - Japan Japanese - - - - OI1 mild; blue sclera (HP:0000592); no deafness (-HP:0000365); no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) COL1A2 COL1A2 1 2 Yousuke Higuchi
00299939 - PubMed: Higuchi 2021, Journal: Higuchi 2021 - M - Japan Japanese - - - - OI1 mild; blue sclera (HP:0000592); no dentinogenesis imperfecta (-HP:0000703); no deafness (-HP:0000365); no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) COL1A2 COL1A2 1 1 Yousuke Higuchi
00320461 - PubMed: Bardai et al., 2016 The deletion in this patient spans 47 genes including COL1A1.The technique used was the custom NGS Gene panel. - - - - - - - - OI, OI1 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320463 - - - - - - - - - - - OI, OI1 - COL1A1 COL1A1 1 1 Isabel Mandy Nesbitt
00320464 - PubMed: van Dijk et al., 2010 This is patient I.1 in family 4 in {PMID21113976:van Dijk et al., 2010} - - - - - - - - OI, OI1 - COL1A1 COL1A1 1 1 Gerard Pals
00320465 - PubMed: van Dijk et al., 2010 This is patient I.2 in family 2 in {PMID21113976:van Dijk et al., 2010} - - - - - - - - OI, OI1 - COL1A1 COL1A1 1 1 Gerard Pals
00320466 - - Amsterdam patient ID: VU3 - - - - - - - - OI, OI1 - COL1A1 COL1A1 1 1 Gerard Pals
00320467 - PubMed: van Dijk et al., 2010 This is patient I.2 in family 3 in {PMID21113976:van Dijk et al., 2010} - - - - - - - - OI, OI1 - COL1A1 COL1A1 1 1 Gerard Pals
00320468 - PubMed: van Dijk et al., 2010 This patient II.1 in family 1 in {PMID21113976:van Dijk et al., 2010} - - - - - - - - OI, OI1 - COL1A1 COL1A1 1 1 Gerard Pals
00320469 - PubMed: Mannstadt et al., 2014 The patient has a 1.035 Mb deletion encompassing at least 28 genes including COL1A1. - - - - - - - - OI, OI1 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320471 - PubMed: Pollitt et al., 2006 This patient also had micrognathia and cleft palate (Robin sequence), marfanoid features, blue sclerae and had a fracture at birth with osteopaenia on X-rays.The deletion was demonstrated by FISH analysis, but the identities of the non-hybridising probes are not given. - - - - - - - - OI, OI1 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320472 - PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - OI, OI1 mild phenotype with typical hearing loss, classified as type I OI COL1A1 COL1A1 1 1 Xiuli Zhao
00320475 - PubMed: Bardai et al., 2016 The deletion in this patient spans 34 genes including COL1A1.The technique used was the custom NGS Gene panel. - - - - - - - - OI, OI1 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320476 - PubMed: Bardai et al., 2016 The deletion in this patient spans 4 genes including COL1A1.The technique used was the custom NGS Gene panel. - - - - - - - - OI, OI1 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320477 - PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - OI, OI1 - COL1A1 COL1A1 1 1 Xiuli Zhao
00320478 - PubMed: Bardai et al., 2016 The deletion in this patient spans 4 genes including COL1A1.The technique used was the custom NGS Gene panel. - - - - - - - - OI, OI1 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320479 - PubMed: Bardai et al., 2016 The deletion in this patient spans just COL1A1.The technique used was the custom NGS Gene panel. - - - - - - - - OI, OI1 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320481 UA32 PubMed: Zhytnik 2019 - - - Ukraine - - - - - OI, OI1 - COL1A1 COL1A1 1 1 Lidiia Zhytnik
00320482 - - - - - - white - - - - OI, OI1 - COL1A1 COL1A1 1 1 Giacomo Venturi, Massimiliano Corradi, Alberto Gandini
00320483 - - - - - - white - - - - OI, OI1 Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta), COL1A1 COL1A1 1 1 Giacomo Venturi, Massimiliano Corradi, Alberto Gandini
00320484 - - - - - - - - - - - OI, OI1 - COL1A1 COL1A1 1 1 Peter Roughley
00320485 - - - - - - - - - - - OI, OI1 - COL1A1 COL1A1 1 1 Margherita Maioli
00320486 - PubMed: Cho et al., 2015 The protein-level consequence of the sequence variant is incorrectly reported as p.Met1Arg. - - - Korean - - - - OI, OI1 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320488 - PubMed: Bardai et al., 2016 - - - - - - - - - OI, OI1 - COL1A1 COL1A1 1 1 Ghalib Bardai, Patrizia Mason
00320489 - PubMed: Rauch et al., 2014 - - - - - - - - - OI, OI1 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320496 - - - - - - white - - - - OI, OI1 - COL1A1 COL1A1 1 1 Giacomo Venturi, Massimiliano Corradi, Alberto Gandini
00320498 - - - - - - - - - - - OI, OI1 - COL1A1 COL1A1 1 1 Ken Poole
00320499 - PubMed: Hartikka et al., 2004 - - - - - - - - - OI, OI1 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320500 - - - - - - - - - - - OI, OI1 - COL1A1 COL1A1 1 1 Margherita Maioli
00320502 - PubMed: Ho Duy et al., 2016 - - - - Vietnamese - - - - OI, OI1 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320503 - PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - OI, OI1 - COL1A1 COL1A1 1 1 Xiuli Zhao
00320506 - PubMed: Hartikka et al., 2004 - - - - - - - - - OI, OI1 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320509 - PubMed: Zhang et al., 2014 - - - - Chinese - - - - OI, OI1 - COL1A1 COL1A1 1 1 Raymond Dalgleish
00320510 - - - - - - - - - - - OI, OI1 - COL1A1 COL1A1 1 1 Gerard Pals
00320511 - PubMed: Lindahl et al., 2015 - - - - Swedish - - - - OI, OI1 Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta), COL1A1 COL1A1 1 1 Katarina Lindahl
00320512 - - - - - - - - - - - OI, OI1 - COL1A1 COL1A1 1 1 Margherita Maioli
00320513 - - - - - - - - - - - OI, OI1 - COL1A1 COL1A1 1 1 Margherita Maioli
00320514 - PubMed: Hruskova et al., 2016 - - - - Czech - - - - OI, OI1 Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta), COL1A1 COL1A1 1 1 Raymond Dalgleish
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