All genes

20 entries on 1 page. Showing entries 1 - 20.
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AscendingSymbol     

HGNC ID     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
ADAMTS2 HGNC:218 ADAM metallopeptidase with thrombospondin type 1 motif, 2 5 q35.3 1 110 89 2024-04-19 EDS, EDSDERMS
AEBP1 HGNC:303 AE binding protein 1 7 p13 1 43 37 2024-04-19 EDSCLL2
B3GALT6 HGNC:17978 beta-1,3-galactosyltransferase 6 1 p36.33 1 102 64 2024-02-26 ALGAZ, EDSSPD2, SEMDJL1
B4GALT7 HGNC:930 beta-1,4-galactosyltransferase 7 5 q35.3 1 90 47 2024-04-19 EDS, EDSSPD, EDSSPD1, ID, LRS
C1R HGNC:1246 complement component 1, r subcomponent 12 p13.31 1 56 43 2024-04-19 C1SD, EDSPD1
C1S HGNC:1247 complement component 1, s subcomponent 12 p13 1 47 33 2023-11-27 C1SD, EDSPD2
CHST14 HGNC:24464 carbohydrate sulfotransferase 14 15 q15.1 1 54 35 2024-04-19 EDSMC, EDSMC1
COL12A1 HGNC:2188 collagen, type XII, alpha 1 6 q12-q13 1 213 172 2024-04-19 BTHLM, BTHLM2, UCMD2
COL1A1 HGNC:2197 collagen type I alpha 1 chain 17 q21.33 1 4538 1583 2024-05-30 CAFYD, EDS, EDS7A, EDSARTH2, OI, OI1, OI2, OI3, OI4, osteoporosis
COL1A2 HGNC:2198 collagen type I alpha 2 chain 7 q21.3 1 1693 887 2024-05-29 EDS, EDSARTH2, EDSCV, OI, OI2, OI3, OI4, osteoporosis
COL3A1 HGNC:2201 collagen type III alpha 1 chain 2 q32.2 1 1647 973 2024-05-22 acrogeria, EDS, EDSVASC, IS1, PMGEDSV, SCAD
COL5A1 HGNC:2209 collagen type V alpha 1 chain 9 q34.3 2 873 643 2024-05-22 EDS, EDSCL1
COL5A2 HGNC:2210 collagen type V alpha 2 chain 2 q32.2 1 280 211 2024-03-27 EDS, EDSCL2
DSE HGNC:21144 dermatan sulfate epimerase 6 q22.1 1 46 34 2024-04-19 EDSMC, EDSMC2
FKBP14 HGNC:18625 FKBP prolyl isomerase 14 7 p14.3 1 60 16 2024-04-19 EDS, EDSKSCL2
PLOD1 HGNC:9081 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 1 p36.22 1 289 177 2024-02-26 EDS, EDSKSCL1
PRDM5 HGNC:9349 PR domain containing 5 4 q25-q26 1 56 41 2024-05-26 BCS, BCS2, EDS
SLC39A13 HGNC:20859 solute carrier family 39 (zinc transporter), member 13 11 p11.2 1 26 21 2024-04-19 EDS, EDSSPD3
TNXB HGNC:11976 tenascin XB 6 p21.33-p21.32 1 638 460 2024-04-19 EDS, EDSCLL, EDSHMB, VUR8
ZNF469 HGNC:23216 zinc finger protein 469 16 q24 1 66 62 2024-04-19 BCS, BCS1
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