All genes

17 entries on 1 page. Showing entries 1 - 17.
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AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2 5 q35.3 1 99 79 2023-07-07 EDS, EDSDERMS
AEBP1 AE binding protein 1 7 p13 1 38 32 2023-07-21 EDSCLL2
B3GALT6 beta-1,3-galactosyltransferase 6 1 p36.33 1 101 63 2023-04-16 ALGAZ, EDSSPD2, SEMDJL1
B4GALT7 beta-1,4-galactosyltransferase 7 5 q35.3 1 86 44 2023-07-07 EDS, EDSSPD, EDSSPD1, ID, LRS
C1R complement component 1, r subcomponent 12 p13.31 1 51 39 2023-07-21 C1SD, EDSPD1
C1S complement component 1, s subcomponent 12 p13 1 45 31 2023-06-26 C1SD, EDSPD2
CHST14 carbohydrate sulfotransferase 14 15 q15.1 1 51 32 2023-04-16 EDSMC, EDSMC1
COL1A1 collagen type I alpha 1 chain 17 q21.33 1 4491 1549 2023-07-07 CAFYD, EDS, EDS7A, EDSARTH2, OI, OI1, OI2, OI3, OI4, osteoporosis
COL1A2 collagen type I alpha 2 chain 7 q21.3 1 1649 858 2023-07-07 EDS, EDSARTH2, EDSCV, OI, OI2, OI3, OI4, osteoporosis
COL3A1 collagen type III alpha 1 chain 2 q32.2 1 1592 930 2023-07-07 acrogeria, EDS, EDSVASC, IS1, PMGEDSV, SCAD
COL5A1 collagen type V alpha 1 chain 9 q34.3 2 790 585 2023-07-07 EDS, EDSCL1
COL5A2 collagen type V alpha 2 chain 2 q32.2 1 268 202 2023-07-21 EDS, EDSCL2
DSE dermatan sulfate epimerase 6 q22.1 1 43 32 2023-07-07 EDSMC, EDSMC2
FKBP14 FKBP prolyl isomerase 14 7 p14.3 1 58 16 2023-04-16 EDS, EDSKSCL2
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 1 p36.22 1 269 164 2023-07-07 EDS, EDS5, EDSKSCL1, Gastroschisis, MYP
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 7 q22.1 1 58 54 2023-07-07 Lysyl hydroxylase 3 deficiency
TNXB tenascin XB 6 p21.33-p21.32 1 602 439 2023-07-21 adrenal hyperplasia, EDS, EDSCLL, EDSHMB, VUR8
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