rs387906960
×
Entrez Id:
60681
Gene Symbol:
FKBP10
FKBP10
Bruck syndrome 1
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
rs397514674
×
Entrez Id:
60681
Gene Symbol:
FKBP10
FKBP10
Bruck syndrome 1
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
rs387906960
×
Entrez Id:
60681
Gene Symbol:
FKBP10
FKBP10
Bruck syndrome 1
0.800
GeneticVariation
UNIPROT
Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome.
20839288
2011
rs397514674
×
Entrez Id:
60681
Gene Symbol:
FKBP10
FKBP10
Bruck syndrome 1
0.800
GeneticVariation
UNIPROT
Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome.
20839288
2011
rs387906960
×
Entrez Id:
60681
Gene Symbol:
FKBP10
FKBP10
Bruck syndrome 1
A
0.800
CausalMutation
CLINVAR
rs397514674
×
Entrez Id:
60681
Gene Symbol:
FKBP10
FKBP10
Bruck syndrome 1
A
0.800
CausalMutation
CLINVAR
rs869025223
×
Entrez Id:
60681
Gene Symbol:
FKBP10
FKBP10
OSTEOGENESIS IMPERFECTA, TYPE XI
G
0.700
CausalMutation
CLINVAR
Novel FKBP10 Mutation in a Patient with Osteogenesis Imperfecta Type XI.
27362741
2016
rs797044852
×
Entrez Id:
60681
Gene Symbol:
FKBP10
FKBP10
Multiple congenital anomalies
A
0.700
CausalMutation
CLINVAR
Bruck syndrome - a rare syndrome of bone fragility and joint contracture and novel homozygous FKBP10 mutation.
25931047
2015
rs782653042
×
Entrez Id:
60681
Gene Symbol:
FKBP10
FKBP10
Bruck syndrome 1
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
rs797044852
×
Entrez Id:
60681
Gene Symbol:
FKBP10
FKBP10
Multiple congenital anomalies
A
0.700
CausalMutation
CLINVAR
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
rs782653042
×
Entrez Id:
60681
Gene Symbol:
FKBP10
FKBP10
Bruck syndrome 1
0.700
GeneticVariation
UNIPROT
Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome.
20839288
2011
rs797044852
×
Entrez Id:
60681
Gene Symbol:
FKBP10
FKBP10
Multiple congenital anomalies
A
0.700
CausalMutation
CLINVAR
Mutations in FKBP10 can cause a severe form of isolated Osteogenesis imperfecta.
22107750
2011
rs797044852
×
Entrez Id:
60681
Gene Symbol:
FKBP10
FKBP10
Multiple congenital anomalies
A
0.700
CausalMutation
CLINVAR
Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome.
20839288
2011
rs797044852
×
Entrez Id:
60681
Gene Symbol:
FKBP10
FKBP10
Multiple congenital anomalies
A
0.700
CausalMutation
CLINVAR
Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans.
21567934
2011
rs797044852
×
Entrez Id:
60681
Gene Symbol:
FKBP10
FKBP10
Multiple congenital anomalies
A
0.700
CausalMutation
CLINVAR
Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta.
20362275
2010
rs797044852
×
Entrez Id:
60681
Gene Symbol:
FKBP10
FKBP10
Multiple congenital anomalies
A
0.700
CausalMutation
CLINVAR
FKBP10 and Bruck syndrome: phenotypic heterogeneity or call for reclassification?
20696291
2010
rs137853883
×
Entrez Id:
60681
Gene Symbol:
FKBP10
FKBP10
Bruck syndrome 1
TC
0.700
CausalMutation
CLINVAR
rs137853883
×
Entrez Id:
60681
Gene Symbol:
FKBP10
FKBP10
Kyphosis deformity of spine
TC
0.700
CausalMutation
CLINVAR
rs137853883
×
Entrez Id:
60681
Gene Symbol:
FKBP10
FKBP10
Short stature
TC
0.700
CausalMutation
CLINVAR
rs137853883
×
Entrez Id:
60681
Gene Symbol:
FKBP10
FKBP10
OSTEOGENESIS IMPERFECTA, TYPE XII
TC
0.700
CausalMutation
CLINVAR
rs137853883
×
Entrez Id:
60681
Gene Symbol:
FKBP10
FKBP10
OSTEOGENESIS IMPERFECTA, TYPE XI
TC
0.700
CausalMutation
CLINVAR
rs1555616552
×
Entrez Id:
60681
Gene Symbol:
FKBP10
FKBP10
Bruck syndrome 1
TC
0.700
CausalMutation
CLINVAR
rs1567855132
×
Entrez Id:
60681
Gene Symbol:
FKBP10
FKBP10
OSTEOGENESIS IMPERFECTA, TYPE XI
TTGATGGAC
0.700
CausalMutation
CLINVAR
rs1567856056
×
Entrez Id:
60681
Gene Symbol:
FKBP10
FKBP10
Bruck syndrome 1
GC
0.700
CausalMutation
CLINVAR
rs372896892
×
Entrez Id:
60681
Gene Symbol:
FKBP10
FKBP10
OSTEOGENESIS IMPERFECTA, TYPE XII
T
0.700
CausalMutation
CLINVAR