Congenital disorder of glycosylation

Disease Term Disease ID Gene Symbol References
Carbohydrate deficient glycoprotein syndrome type 1o C4510743 DPM3 28357185
Carbohydrate deficient glycoprotein syndrome type 2k C3553571 TMEM165 27604308, 22683087, 23575229, 23430531
Congenital disorder of glycosylation type 1r C3281084 DDOST 22305527
Congenital disorder of glycosylation type 1J C2931004 DPAGT1 30388443, 22492991, 12872255, 25500013, 30653653, 27604308
Congenital disorder of glycosylation type 2D C2931009 B4GALT1 11901181, 21920538, 27604308
Congenital disorder of glycosylation type 1w C3810062 STT3A 23842455
Congenital disorder of glycosylation type 2A C2931008 MGAT2 8808595, 27604308, 11228641, 19419693
Congenital Disorders of Glycosylation C0282577 MPI 9585601
PMM2
SLC35A2
MOGS
DPM1
MPDU1
SLC35A1
DOLK 22242004, 28816422
ALG1 26931382, 25956699, 14973782, 14709599, 27172925, 28554332, 27325525, 14973778
SRD5A3
MAGT1
FCSK 30503518
SRD5A3-AS1
Congenital disorder of glycosylation type 1B C1865145 MPI 26206375, 18928705, 11350186, 27604308, 12414827, 24508628, 28928705, 9525984, 24421398, 12357336, 10980531, 11134235, 9585601
Congenital disorder of glycosylation type 1q C4317224 MPI 3080572
PMM2 21937992
MOGS
DPM1 10642597
MPDU1 11733564
SLC35A1 15576474
DOLK 22242004
SRD5A3 20637498, 24433453, 20852264, 22304929, 18271001, 27480077, 27604308
SRD5A3-AS1
Congenital disorder of glycosylation type 1A C0349653 PMM2 24037084, 25497157, 9140401, 11156536, 11409861, 10527672, 15714316, 10571956, 12607543, 11134235, 15844218, 24739649, 10066032, 26014514, 11058896, 23137060, 23045520, 20638314, 28139241, 23430838, 21228398, 13129599, 19235233, 16825284, 21539312, 11875054, 27415628, 9497260, 16085795, 17920054, 10386614, 15272470, 12626389, 17307006, 21541725, 12357336, 17166182, 19396570, 19357119, 11058895, 10602363, 28425223, 17451957, 26206375, 11715002, 26629787, 16376131, 19862844, 26488408, 22012410, 29229467, 25525159, 25355454, 17308246, 22649348, 18948042, 10801058, 17186415, 15277997, 15645285, 9781039, 26502900, 11350185, 16540464, 28954837, 12705494, 26805780, 22801829, 28122681, 27604308, 10922383, 21949237, 11589167, 23806237, 24498599, 7670249, 11517108, 18571450
Congenital disorder of glycosylation type 1y C4012395 SSR4 24218363, 26264460
Solute carrier family 35 member A2 congenital disorder of glycosylation C3806688 SLC35A2 23561849, 30746764, 30817854, 24115232
Congenital Disorder Of Glycosylation, Type IIB C1853736 MOGS 10788335, 4716661, 27604308, 24716661, 26805780
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie C1837396 DPM1 10642597, 10642602, 15669674, 27604308, 23856421, 26729507
ADNP-AS1 26729507, 23856421
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu C3554385 DPM2 23109149, 19901254, 26453362
Congenital disorder of glycosylation, type 2G C2931011 COG1 27604308, 19008299
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If C1836669 MPDU1 11733564, 11733556, 27604308
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip C3150913 UTP14C
ALG11 22213132, 27604308, 20080937
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id C1832736 ALG3 10581255, 16006436, 27604308, 19862844, 15840742
COG5 congenital disorder of glycosylation C3150876 COG5 28960046, 19690088, 23228021, 27604308
Congenital Disorder Of Glycosylation, Type IIF C1970344 SLC35A1 25552652, 30115659, 28856833
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq C4479353 COG2 24784932
Congenital Disorder Of Glycosylation, Type Im C1835849 DOLK 22242004, 23890587, 27604308, 28816422, 17273964, 24144945
Congenital disorder of glycosylation type 1L C2931006 ATP6V0A2 19321599
ALG9 15148656, 27604308, 31420886, 25966638, 15945070
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj C3150736 COG4 21185756, 19494034, 25529582, 19651599, 27604308, 11980916
Congenital disorder of glycosylation type 1C C2930997 ALG6 11106564, 27287710, 26453362, 10359825, 20447155, 14517965, 10914684, 15771971, 25525159, 27604308, 12357336, 16007612, 10924277, 12855228, 10852543, 23044053, 23430515, 19862844, 11134235
Congenital Disorder of Glycosylation, Type Io C2752007 DPM3 19576565, 10835346, 28803818
Congenital disorder of glycosylation, type 2C C0398739 SLC35C1 24403049, 11326280, 11326279, 27604308, 12476046
Congenital disorder of glycosylation type 1K C2931005 ALG1 14973778, 14709599, 27172925, 22966035, 28554332, 26931382, 27604308, 14973782, 26453362, 20679665, 27325525
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl C3553230 COG6 27604308, 20605848, 26260076, 11980916, 29709711, 23430903
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn C4225234 SLC39A8 26637978, 26637979, 27604308, 29903433
XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation C4750849 XYLT1 23982343
Congenital disorder of glycosylation type 1H C2931002 ALG8 19688606, 15235028, 31420886, 27604308
Congenital disorder of glycosylation type 1G C2931001 ALG12 17506107, 11983712, 12217961, 12736397, 12093361, 27604308
Congenital disorder of glycosylation type 1s C4317295 ALG13 23934111
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo C4225191 CCDC115 26833332
Congenital Disorder Of Glycosylation, Type IIH C1970021 COG8 27604308, 17331980, 11980916, 17220172
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii C1842836 ALG2 23404334, 12684507, 27604308
Congenital Disorder Of Glycosylation, Type In C2677590 RFT1 18313027, 23111317, 27604308, 19701946
Congenital disorder of glycosylation type 2E C2931010 COG7 19577670, 27604308, 17356545, 15107842
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa C4310727 NUS1 25066056, 30348779
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp C4225190 TMEM199 26833330
Congenital disorder of glycosylation type 1X C2931007 STT3B 23842455
RFT1-CDG 244310 RFT1
COG4-CDG 263501 COG4
COG1-CDG 263508 COG1
DPM3-CDG 263494 DPM3
COG5-CDG 263487 COG5
ALG11-CDG 280071 ALG11
SLC35A1-CDG 238459 SLC35A1
SRD5A3-CDG 324737 SRD5A3
ALG13-CDG 324422 ALG13
PGM1-CDG 319646 PGM1
TMEM165-CDG 314667 TMEM165
STT3A-CDG 370921 STT3A
STT3B-CDG 370924 STT3B
SSR4-CDG 370927 SSR4
XYLT1-CDG 370930 XYLT1
SLC35A2-CDG 356961 SLC35A2
DDOST-CDG 300536 DDOST
COG6-CGD 464443 COG6
CAD-CDG 448010 CAD
CCDC115-CDG 468684 CCDC115
SLC39A8-CDG 468699 SLC39A8
MAN1B1-CDG 397941 MAN1B1
COG2-CDG 435934 COG2
PGM3-CDG 443811 PGM3
DK1-CDG 91131 DOLK
COG7-CDG 79333 COG7
B4GALT1-CDG 79332 B4GALT1
MOGS-CDG 79330 MOGS
MGAT2-CDG 79329 MGAT2
ALG9-CDG 79328 ALG9
ALG1-CDG 79327 ALG1
ALG2-CDG 79326 ALG2
ALG8-CDG 79325 ALG8
ALG12-CDG 79324 ALG12
MPDU1-CDG 79323 MPDU1
DPM1-CDG 79322 DPM1
ALG3-CDG 79321 ALG3
ALG6-CDG 79320 ALG6
MPI-CDG 79319 MPI
PMM2-CDG 79318 PMM2
DPAGT1-CDG 86309 DPAGT1
COG8-CDG 95428 COG8
GSD IV, Neuromuscular Form, Congenital C1856304 GBE1