TBCE, tubulin folding cofactor E, 6905

N. diseases: 146; N. variants: 15
Disease: KENNY-CAFFEY SYNDROME, TYPE 1 ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs758937799
rs758937799 		0.925 0.280 1 235401545 frameshift variant AG/- del 3.2E-05
CUI: C1855648
Disease: KENNY-CAFFEY SYNDROME, TYPE 1
KENNY-CAFFEY SYNDROME, TYPE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2002 2002
dbSNP: rs767004810
rs767004810 		0.925 0.280 1 235401553 inframe deletion GCCACGAAGGGA/- delins 1.4E-05
CUI: C1855648
Disease: KENNY-CAFFEY SYNDROME, TYPE 1
KENNY-CAFFEY SYNDROME, TYPE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0