All genes

25 entries on 1 page. Showing entries 1 - 25.
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AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
BMP1 bone morphogenetic protein 1 8 p21.3 1 102 86 2022-06-17 OI, OI13
CCDC134 coiled-coil domain containing 134 22 q13.2 1 5 3 2022-05-09 OI
COL1A1 collagen type I alpha 1 chain 17 q21.33 1 4226 1425 2022-08-13 CAFYD, EDS, EDS7A, EDSARTH2, OI, OI1, OI2, OI3, OI4, osteoporosis
COL1A2 collagen type I alpha 2 chain 7 q21.3 1 1495 788 2022-06-14 EDS, EDSARTH2, EDSCV, OI, OI2, OI3, OI4, osteoporosis
CREB3L1 cAMP responsive element binding protein 3-like 1 11 q11.2 1 34 30 2022-05-09 OI, OI16
CRTAP cartilage associated protein 3 p22.3 1 71 51 2022-06-17 OI, OI7
FAM46A family with sequence similarity 46, member A 6 q14.1 1 11 9 2022-05-09 OI, OI18
FKBP10 FKBP prolyl isomerase 10 17 q21.2 1 201 81 2022-05-16 BRKS, BRKS1, OI, OI11
IFITM5 interferon induced transmembrane protein 5 11 p15.5 1 82 11 2022-05-31 OI, OI5
KDELR2 KDEL endoplasmic reticulum protein retention receptor 2 7 p22.1 2 15 7 2022-05-09 OI, OI21
LRP5 low density lipoprotein receptor-related protein 5 11 q13.4 1 502 294 2022-07-22 BMND1, EVR4, EVR;FEVR, OPPG, OPTA, OPTA1, PCLD4, VBCH2, hyperostosis, endosteal (Worth disease), osteoporosis
MBTPS2 membrane-bound transcription factor peptidase, site 2 X p22.12-p22.11 1 153 64 2022-05-09 ID, KFSD, KFSDX, OI, OI19, IFAP syndrome with/without BRESHECK syndrome, Olmsted syndrome, X-linked
MESDC2 mesoderm development candidate 2 15 q13 1 5 4 2022-02-08 OI, OI20
P3H1 prolyl 3-hydroxylase 1 1 p34.2 1 189 108 2022-05-16 OI, OI8
P4HB prolyl 4-hydroxylase subunit beta 17 q25.3 1 19 16 2022-05-09 CLCRP, CLCRP1
PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 3 q24 1 64 44 2022-05-09 BRKS, BRKS2
PLS3 plastin 3 X q23 1 58 45 2022-05-09 BMND18
PPIB peptidylprolyl isomerase B 15 q22.31 1 24 20 2022-04-26 OI9
SEC24D SEC24 homolog D, COPII coat complex component 4 q26 1 44 37 2022-05-09 CLCRP, CLCRP2
SERPINF1 serpin family F member 1 17 p13.3 1 129 82 2022-06-17 OI, OI6
SERPINH1 serpin family H member 1 11 q13.5 1 40 29 2022-05-09 OI, OI10, PPROM
SP7 Sp7 transcription factor 12 q13.13 1 19 17 2021-09-17 OI, OI12
SPARC secreted protein acidic and cysteine rich 5 q33.1 1 7 7 2022-01-23 OI, OI17
TMEM38B transmembrane protein 38B 9 q31.2 1 48 16 2022-05-09 OI, OI14
WNT1 Wnt family member 1 12 q13.12 1 139 65 2022-05-09 BMND, BMND16, OI, OI15
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