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
dbSNP: rs387906960
rs387906960
Entrez Id: 60681
Gene Symbol: FKBP10
FKBP10
CUI: C1850168
Disease:
Bruck syndrome 1 		A 0.800 CausalMutation CLINVAR
dbSNP: rs397514674
rs397514674
Entrez Id: 60681
Gene Symbol: FKBP10
FKBP10
CUI: C1850168
Disease:
Bruck syndrome 1 		A 0.800 CausalMutation CLINVAR
dbSNP: rs137853883
rs137853883
Entrez Id: 60681
Gene Symbol: FKBP10
FKBP10
CUI: C1850168
Disease:
Bruck syndrome 1 		TC 0.700 CausalMutation CLINVAR
dbSNP: rs137853883
rs137853883
Entrez Id: 60681
Gene Symbol: FKBP10
FKBP10
CUI: C0022821
Disease:
Kyphosis deformity of spine 		TC 0.700 CausalMutation CLINVAR
dbSNP: rs137853883
rs137853883
Entrez Id: 60681
Gene Symbol: FKBP10
FKBP10
CUI: C0349588
Disease:
Short stature 		TC 0.700 CausalMutation CLINVAR
dbSNP: rs137853883
rs137853883
Entrez Id: 60681
Gene Symbol: FKBP10
FKBP10
CUI: C3151433
Disease:
OSTEOGENESIS IMPERFECTA, TYPE XII 		TC 0.700 CausalMutation CLINVAR
dbSNP: rs137853883
rs137853883
Entrez Id: 60681
Gene Symbol: FKBP10
FKBP10
CUI: C3151218
Disease:
OSTEOGENESIS IMPERFECTA, TYPE XI 		TC 0.700 CausalMutation CLINVAR
dbSNP: rs1555616552
rs1555616552
Entrez Id: 60681
Gene Symbol: FKBP10
FKBP10
CUI: C1850168
Disease:
Bruck syndrome 1 		TC 0.700 CausalMutation CLINVAR
dbSNP: rs1567855132
rs1567855132
Entrez Id: 60681
Gene Symbol: FKBP10
FKBP10
CUI: C3151218
Disease:
OSTEOGENESIS IMPERFECTA, TYPE XI 		TTGATGGAC 0.700 CausalMutation CLINVAR
dbSNP: rs1567856056
rs1567856056
Entrez Id: 60681
Gene Symbol: FKBP10
FKBP10
CUI: C1850168
Disease:
Bruck syndrome 1 		GC 0.700 CausalMutation CLINVAR
dbSNP: rs372896892
rs372896892
Entrez Id: 60681
Gene Symbol: FKBP10
FKBP10
CUI: C3151433
Disease:
OSTEOGENESIS IMPERFECTA, TYPE XII 		T 0.700 CausalMutation CLINVAR
dbSNP: rs387907325
rs387907325
Entrez Id: 60681
Gene Symbol: FKBP10
FKBP10
CUI: C3151433
Disease:
OSTEOGENESIS IMPERFECTA, TYPE XII 		AT 0.700 CausalMutation CLINVAR
dbSNP: rs397509383
rs397509383
Entrez Id: 60681
Gene Symbol: FKBP10
FKBP10
CUI: C1850168
Disease:
Bruck syndrome 1 		A 0.700 CausalMutation CLINVAR
dbSNP: rs397509383
rs397509383
Entrez Id: 60681
Gene Symbol: FKBP10
FKBP10
CUI: C3151433
Disease:
OSTEOGENESIS IMPERFECTA, TYPE XII 		A 0.700 CausalMutation CLINVAR
dbSNP: rs869320752
rs869320752
Entrez Id: 60681
Gene Symbol: FKBP10
FKBP10
CUI: C1850168
Disease:
Bruck syndrome 1 		C 0.700 CausalMutation CLINVAR
dbSNP: rs797044852
rs797044852
Entrez Id: 60681
Gene Symbol: FKBP10
FKBP10
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. 20362275 2010
dbSNP: rs797044852
rs797044852
Entrez Id: 60681
Gene Symbol: FKBP10
FKBP10
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR FKBP10 and Bruck syndrome: phenotypic heterogeneity or call for reclassification? 20696291 2010
dbSNP: rs387906960
rs387906960
Entrez Id: 60681
Gene Symbol: FKBP10
FKBP10
CUI: C1850168
Disease:
Bruck syndrome 1 		0.800 GeneticVariation UNIPROT Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome. 20839288 2011
dbSNP: rs397514674
rs397514674
Entrez Id: 60681
Gene Symbol: FKBP10
FKBP10
CUI: C1850168
Disease:
Bruck syndrome 1 		0.800 GeneticVariation UNIPROT Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome. 20839288 2011
dbSNP: rs782653042
rs782653042
Entrez Id: 60681
Gene Symbol: FKBP10
FKBP10
CUI: C1850168
Disease:
Bruck syndrome 1 		0.700 GeneticVariation UNIPROT Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome. 20839288 2011
dbSNP: rs797044852
rs797044852
Entrez Id: 60681
Gene Symbol: FKBP10
FKBP10
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Mutations in FKBP10 can cause a severe form of isolated Osteogenesis imperfecta. 22107750 2011
dbSNP: rs797044852
rs797044852
Entrez Id: 60681
Gene Symbol: FKBP10
FKBP10
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome. 20839288 2011
dbSNP: rs797044852
rs797044852
Entrez Id: 60681
Gene Symbol: FKBP10
FKBP10
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans. 21567934 2011
dbSNP: rs387906960
rs387906960
Entrez Id: 60681
Gene Symbol: FKBP10
FKBP10
CUI: C1850168
Disease:
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
dbSNP: rs397514674
rs397514674
Entrez Id: 60681
Gene Symbol: FKBP10
FKBP10
CUI: C1850168
Disease:
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