| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.700 | GermlineCausalMutation | disease | ORPHANET | Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen. | 22949511 | 2013 | ||||
|
0.700 | GeneticVariation | disease | UNIPROT | Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen. | 22949511 | 2013 | ||||
|
0.700 | GermlineCausalMutation | disease | ORPHANET | A novel homozygous 5 bp deletion in FKBP10 causes clinically Bruck syndrome in an Indonesian patient. | 22085994 | 2012 | ||||
|
0.700 | GermlineCausalMutation | disease | ORPHANET | Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum. | 22689593 | 2012 | ||||
|
0.700 | GeneticVariation | disease | UNIPROT | Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome. | 20839288 | 2011 | ||||
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND | FKBP10 and Bruck syndrome: phenotypic heterogeneity or call for reclassification? | 20696291 | 2010 | ||||
|
0.700 | CausalMutation | disease | CLINVAR | |||||||
|
0.700 | Biomarker | disease | CTD_human | |||||||
|
0.300 | GermlineCausalMutation | disease | ORPHANET | Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum. | 22689593 | 2012 | ||||
|
0.300 | GermlineCausalMutation | disease | ORPHANET | Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2. | 15523624 | 2004 |