Congenital disorder of glycosylation

Disease Term Disease ID Gene Symbol Classification References Source
Congenital disorder of glycosylation type 1H C2931002 ALG8 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15235028, 19688606, 27604308, 31420886 -
ALG9-CDG 79328 ALG9 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Congenital disorder of glycosylation type 1L C2931006 ALG9 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15148656, 15945070, 25966638, 27604308, 31420886 -
ATP6V0A2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19321599 -
B4GALT1-CDG 79332 B4GALT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Congenital disorder of glycosylation type 2D C2931009 B4GALT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11901181, 21920538, 27604308 -
CAD-CDG 448010 CAD Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
COG6-CGD 464443 COG6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl C3553230 COG6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11980916, 20605848, 23430903, 26260076, 27604308, 29709711 -
Congenital disorder of glycosylation type 1q C4317224 DOLK Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22242004 -
MOGS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MPDU1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11733564 -
MPI Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 3080572 -
SLC35A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15576474 -
SRD5A3-AS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Congenital Disorder Of Glycosylation, Type Im C1835849 DOLK Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17273964, 22242004, 23890587, 24144945, 27604308, 28816422 -
Congenital Disorders of Glycosylation C0282577 DOLK Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22242004, 28816422 -
FCSK Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 30503518 -
MOGS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MPDU1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MPI Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9585601 -
SLC35A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SLC35A2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SRD5A3-AS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
DK1-CDG 91131 DOLK Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu C3554385 DPM2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19901254, 23109149, 26453362 -
Carbohydrate deficient glycoprotein syndrome type 1o C4510743 DPM3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28357185 -
Congenital Disorder of Glycosylation, Type Io C2752007 DPM3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10835346, 19576565, 28803818 -
DPM3-CDG 263494 DPM3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
GSD IV, Neuromuscular Form, Congenital C1856304 GBE1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MAN1B1-CDG 397941 MAN1B1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Congenital disorder of glycosylation type 2A C2931008 MGAT2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8808595, 11228641, 19419693, 27604308 -
MGAT2-CDG 79329 MGAT2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Congenital Disorder Of Glycosylation, Type IIB C1853736 MOGS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 4716661, 10788335, 24716661, 26805780, 27604308 -
MOGS-CDG 79330 MOGS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If C1836669 MPDU1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11733556, 11733564, 27604308 -
MPDU1-CDG 79323 MPDU1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Congenital disorder of glycosylation type 1B C1865145 MPI Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9525984, 9585601, 10980531, 11134235, 11350186, 12357336, 12414827, 18928705, 24421398, 24508628, 26206375, 27604308, 28928705 -
MPI-CDG 79319 MPI Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PGM1-CDG 319646 PGM1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PGM3-CDG 443811 PGM3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Congenital Disorder Of Glycosylation, Type In C2677590 RFT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18313027, 19701946, 23111317, 27604308 -
RFT1-CDG 244310 RFT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Congenital Disorder Of Glycosylation, Type IIF C1970344 SLC35A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25552652, 28856833, 30115659 -
SLC35A1-CDG 238459 SLC35A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SLC35A2-CDG 356961 SLC35A2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Solute carrier family 35 member A2 congenital disorder of glycosylation C3806688 SLC35A2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23561849, 24115232, 30746764, 30817854 -
Congenital disorder of glycosylation, type 2C C0398739 SLC35C1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11326279, 11326280, 12476046, 24403049, 27604308 -
Congenital disorder of glycosylation type 1y C4012395 SSR4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24218363, 26264460 -
SSR4-CDG 370927 SSR4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -