FKBP10, FKBP prolyl isomerase 10, 60681

N. diseases: 86; N. variants: 14
Disease: Bruck syndrome 1 ×
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 		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: 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: rs387906960
rs387906960
Entrez Id: 60681
Gene Symbol: FKBP10
FKBP10
CUI: C1850168
Disease:
Bruck syndrome 1 		A 0.800 CausalMutation CLINVAR