rs1555222973, CREB3L1

N. diseases: 6
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Aplasia/hypoplasia of the extremities
CUI: C4551464
Disease: Aplasia/hypoplasia of the extremities
1 0.851 0.160 11 46312636 inframe deletion AAG/- delins 0.700 0
Blue sclera
CUI: C0542514
Disease: Blue sclera
13 0.851 0.160 11 46312636 inframe deletion AAG/- delins 0.700 0
Increased susceptibility to fractures
CUI: C1390474
Disease: Increased susceptibility to fractures
5 0.851 0.160 11 46312636 inframe deletion AAG/- delins 0.700 0
Osteogenesis Imperfecta
CUI: C0029434
Disease: Osteogenesis Imperfecta
91 0.851 0.160 11 46312636 inframe deletion AAG/- delins 0.700 0
OSTEOGENESIS IMPERFECTA, TYPE XVI
CUI: C4015610
Disease: OSTEOGENESIS IMPERFECTA, TYPE XVI
2 0.851 0.160 11 46312636 inframe deletion AAG/- delins 0.700 0
Osteopenia
CUI: C0029453
Disease: Osteopenia
61 0.851 0.160 11 46312636 inframe deletion AAG/- delins 0.700 0