Osteogenesis Imperfecta(Brittle bone disease) Explore Disorder's Alias
An Autosomal dominant, Autosomal recessive, X-linked dominant mode(s) within the Bone disorders category
Candidate Gene Information
An Autosomal dominant, Autosomal recessive, X-linked dominant mode(s) within the Bone disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | P3H1/64175 | prolyl 3-hydroxylase 1 | 1p34.2 | Chr1, NC_000001.11 (42746374..42767028, complement) |
20655 nt | 16 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | FKBP10/60681 | FKBP prolyl isomerase 10 | 17q21.2 | Chr17, NC_000017.11 (41813004..41823213) |
10210 nt | 11 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | CRTAP/10491 | cartilage associated protein | 3p22.3 | Chr3, NC_000003.12 (33114014..33147773) |
33760 nt | 7 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | PPIB/5479 | peptidylprolyl isomerase B | 15q22.31 | Chr15, NC_000015.10 (64155817..64163022, complement) |
7206 nt | 5 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | COL1A2/1278 | collagen type I alpha 2 chain | 7q21.3 | Chr7, NC_000007.14 (94394895..94431227) |
36333 nt | 52 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 6 | COL1A1/1277 | collagen type I alpha 1 chain | 17q21.33 | Chr17, NC_000017.11 (50184101..50201631, complement) |
17531 nt | 51 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 7 | SERPINH1/871 | serpin family H member 1 | 11q13.5 | Chr11, NC_000011.10 (75562253..75572783) |
10531 nt | 7 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 8 | SERPINF1/5176 | serpin family F member 1 | 17p13.3 | Chr17, NC_000017.11 (1762060..1777565) |
15506 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 9 | BMP1/649 | bone morphogenetic protein 1 | 8p21.3 | Chr8, NC_000008.11 (22165372..22212326) |
46955 nt | 21 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 10 | TMEM38B/55151 | transmembrane protein 38B | 9q31.2 | Chr9, NC_000009.12 (105694541..105776629) |
82089 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 11 | WNT1/7471 | Wnt family member 1 | 12q13.12 | Chr12, NC_000012.12 (48978322..48982620) |
4299 nt | 4 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 12 | IFITM5/387733 | interferon induced transmembrane protein 5 | 11p15.5 | Chr11, NC_000011.10 (298200..299526, complement) |
1327 nt | 2 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 13 | SP7/121340 | Sp7 transcription factor | 12q13.13 | Chr12, NC_000012.12 (53326575..53344793, complement) |
18219 nt | 4 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 14 | SPARC/6678 | secreted protein acidic and cysteine rich | 5q33.1 | Chr5, NC_000005.10 (151661096..151686915, complement) |
25820 nt | 10 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 15 | TENT5A/55603 | terminal nucleotidyltransferase 5A | 6q14.1 | Chr6, NC_000006.12 (81745730..81752681, complement) |
6952 nt | 3 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 16 | MBTPS2/51360 | membrane bound transcription factor peptidase, site 2 | Xp22.12 | ChrX, NC_000023.11 (21839617..21885423) |
45807 nt | 11 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 17 | CREB3L1/90993 | cAMP responsive element binding protein 3 like 1 | 11p11.2 | Chr11, NC_000011.10 (46277662..46321409) |
43748 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 18 | SLC34A1/6569 | solute carrier family 34 member 1 | 5q35.3 | Chr5, NC_000005.10 (177384434..177398848) |
14415 nt | 14 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 19 | MESD/23184 | mesoderm development LRP chaperone | 15q25.1 | Chr15, NC_000015.10 (80946289..80989819, complement) |
43531 nt | 5 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 20 | KDELR2/11014 | KDEL endoplasmic reticulum protein retention receptor 2 | 7p22.1 | Chr7, NC_000007.14 (6461089..6484152, complement) |
23064 nt | 5 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 21 | GBE1/2632 | 1,4-alpha-glucan branching enzyme 1 | 3p12.2 | Chr3, NC_000003.12 (81489703..81761645, complement) |
271943 nt | 17 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 22 | LRP5/4041 | LDL receptor related protein 5 | 11q13.2 | Chr11, NC_000011.10 (68298412..68449275) |
150864 nt | 28 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 23 | XYLT2/64132 | xylosyltransferase 2 | 17q21.33 | Chr17, NC_000017.11 (50346126..50361185) |
15060 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 24 | PHLDB1/23187 | pleckstrin homology like domain family B member 1 | 11q23.3 | Chr11, NC_000011.10 (118606436..118658028) |
51593 nt | 35 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |