FKBP10, FKBP prolyl isomerase 10, 60681
N. diseases: 86; N. variants: 14
Source: ALL
| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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0.800 | GeneticVariation | 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 | |||||||
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0.800 | GeneticVariation | 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 | |||||||
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0.800 | GeneticVariation | UNIPROT | Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome. | 20839288 | 2011 | |||||||
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0.800 | GeneticVariation | UNIPROT | Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome. | 20839288 | 2011 | |||||||
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A | 0.800 | CausalMutation | CLINVAR | |||||||||
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A | 0.800 | CausalMutation | CLINVAR | |||||||||
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0.700 | GeneticVariation | 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 | |||||||
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0.700 | GeneticVariation | UNIPROT | Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome. | 20839288 | 2011 | |||||||
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TC | 0.700 | CausalMutation | CLINVAR | |||||||||
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TC | 0.700 | CausalMutation | CLINVAR | |||||||||
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GC | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR |