carbohydrate metabolic disorder Gene Set

Dataset DISEASES Curated Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description An inherited metabolic disorder that affect the catabolism and anabolism of carbohydrates. (Human Disease Ontology, DOID_2978)
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Genes

85 genes involed in the disease carbohydrate metabolic disorder from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

Symbol Name
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
AGXT alanine-glyoxylate aminotransferase
ALDOA aldolase A, fructose-bisphosphate
ALDOB aldolase B, fructose-bisphosphate
ALG1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
ALG11 ALG11, alpha-1,2-mannosyltransferase
ALG12 ALG12, alpha-1,6-mannosyltransferase
ALG13 ALG13, UDP-N-acetylglucosaminyltransferase subunit
ALG2 ALG2, alpha-1,3/1,6-mannosyltransferase
ALG3 ALG3, alpha-1,3- mannosyltransferase
ALG6 ALG6, alpha-1,3-glucosyltransferase
ALG8 ALG8, alpha-1,3-glucosyltransferase
ALG9 ALG9, alpha-1,2-mannosyltransferase
B3GALTL beta 1,3-galactosyltransferase-like
B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
BTD biotinidase
COG1 component of oligomeric golgi complex 1
COG4 component of oligomeric golgi complex 4
COG5 component of oligomeric golgi complex 5
COG6 component of oligomeric golgi complex 6
COG7 component of oligomeric golgi complex 7
DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)
DLAT dihydrolipoamide S-acetyltransferase
DOLK dolichol kinase
DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
DPM2 dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
DPM3 dolichyl-phosphate mannosyltransferase polypeptide 3
ENO3 enolase 3 (beta, muscle)
G6PC glucose-6-phosphatase, catalytic subunit
G6PD glucose-6-phosphate dehydrogenase
GAA glucosidase, alpha; acid
GALE UDP-galactose-4-epimerase
GALK1 galactokinase 1
GALT galactose-1-phosphate uridylyltransferase
GBE1 glucan (1,4-alpha-), branching enzyme 1
GCK glucokinase (hexokinase 4)
GLUD1 glutamate dehydrogenase 1
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GNPTG N-acetylglucosamine-1-phosphate transferase, gamma subunit
GRHPR glyoxylate reductase/hydroxypyruvate reductase
GYG1 glycogenin 1
GYS2 glycogen synthase 2 (liver)
HADH hydroxyacyl-CoA dehydrogenase
HLCS holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
HNF1A HNF1 homeobox A
HNF4A hepatocyte nuclear factor 4, alpha
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11
LAMP2 lysosomal-associated membrane protein 2
LCT lactase
LDHA lactate dehydrogenase A
MCM6 minichromosome maintenance complex component 6
MCOLN1 mucolipin 1
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MPDU1 mannose-P-dolichol utilization defect 1
MPI mannose phosphate isomerase
NGLY1 N-glycanase 1
NUS1 nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae)
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1
PDHB pyruvate dehydrogenase (lipoamide) beta
PDHX pyruvate dehydrogenase complex, component X
PDP1 pyruvate dehyrogenase phosphatase catalytic subunit 1
PFKM phosphofructokinase, muscle
PGAM2 phosphoglycerate mutase 2 (muscle)
PGM1 phosphoglucomutase 1
PHKA1 phosphorylase kinase, alpha 1 (muscle)
PHKA2 phosphorylase kinase, alpha 2 (liver)
PHKB phosphorylase kinase, beta
PHKG2 phosphorylase kinase, gamma 2 (testis)
PMM2 phosphomannomutase 2
PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit
PYGL phosphorylase, glycogen, liver
PYGM phosphorylase, glycogen, muscle
RFT1 RFT1 homolog (S. cerevisiae)
SLC16A1 solute carrier family 16 (monocarboxylate transporter), member 1
SLC35A1 solute carrier family 35 (CMP-sialic acid transporter), member A1
SLC35A2 solute carrier family 35 (UDP-galactose transporter), member A2
SLC35C1 solute carrier family 35 (GDP-fucose transporter), member C1
SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4
SRD5A3 steroid 5 alpha-reductase 3
STT3A STT3A, subunit of the oligosaccharyltransferase complex (catalytic)
STT3B STT3B, subunit of the oligosaccharyltransferase complex (catalytic)
TMEM165 transmembrane protein 165
UCP2 uncoupling protein 2 (mitochondrial, proton carrier)