galactosemia Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores
Category disease or phenotype associations
Type disease
Description A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues. (Human Disease Ontology, DOID_9870)
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Genes

81 genes co-occuring with the disease galactosemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
GALT galactose-1-phosphate uridylyltransferase 4.10312
GALK1 galactokinase 1 3.05687
GALE UDP-galactose-4-epimerase 2.67093
LGALS1 lectin, galactoside-binding, soluble, 1 2.15976
AKR1B1 aldo-keto reductase family 1, member B1 (aldose reductase) 1.8459
PAPSS1 3'-phosphoadenosine 5'-phosphosulfate synthase 1 1.43947
UGP2 UDP-glucose pyrophosphorylase 2 1.35594
SLC25A13 solute carrier family 25 (aspartate/glutamate carrier), member 13 1.28392
IMPA1 inositol(myo)-1(or 4)-monophosphatase 1 1.16821
PMM2 phosphomannomutase 2 1.1524
GDF9 growth differentiation factor 9 1.01512
BTD biotinidase 0.976323
SLC2A2 solute carrier family 2 (facilitated glucose transporter), member 2 0.888438
GALP galanin-like peptide 0.795821
GALK2 galactokinase 2 0.786394
SORD sorbitol dehydrogenase 0.778204
SUV420H2 suppressor of variegation 4-20 homolog 2 (Drosophila) 0.754527
MPI mannose phosphate isomerase 0.706754
DNAH8 dynein, axonemal, heavy chain 8 0.691094
HADH hydroxyacyl-CoA dehydrogenase 0.691094
BMP15 bone morphogenetic protein 15 0.683093
B3GALT4 UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4 0.66755
SUOX sulfite oxidase 0.643009
IL11RA interleukin 11 receptor, alpha 0.627672
TALDO1 transaldolase 1 0.622575
SLC25A37 solute carrier family 25 (mitochondrial iron transporter), member 37 0.60342
UAP1 UDP-N-acetylglucosamine pyrophosphorylase 1 0.584719
ALPPL2 alkaline phosphatase, placental-like 2 0.580828
ALPP alkaline phosphatase, placental 0.580439
ALPL alkaline phosphatase, liver/bone/kidney 0.579661
AMH anti-Mullerian hormone 0.503824
NR0B1 nuclear receptor subfamily 0, group B, member 1 0.496175
TF transferrin 0.496175
SUCLG1 succinate-CoA ligase, alpha subunit 0.479807
GSR glutathione reductase 0.479807
MVK mevalonate kinase 0.472225
UGDH UDP-glucose 6-dehydrogenase 0.457487
LCT lactase 0.42814
ACP2 acid phosphatase 2, lysosomal 0.391513
GATA1 GATA binding protein 1 (globin transcription factor 1) 0.376661
INS insulin 0.368888
DECR1 2,4-dienoyl CoA reductase 1, mitochondrial 0.362239
BGLAP bone gamma-carboxyglutamate (gla) protein 0.361133
MANBA mannosidase, beta A, lysosomal 0.34384
HBA1 hemoglobin, alpha 1 0.342739
FSHR follicle stimulating hormone receptor 0.330295
HINT1 histidine triad nucleotide binding protein 1 0.322637
HBA2 hemoglobin, alpha 2 0.321545
G6PD glucose-6-phosphate dehydrogenase 0.315729
GGT1 gamma-glutamyltransferase 1 0.312464
MMD monocyte to macrophage differentiation-associated 0.305226
ARSH arylsulfatase family, member H 0.303059
IL11 interleukin 11 0.293334
CNR1 cannabinoid receptor 1 (brain) 0.28616
KIF21A kinesin family member 21A 0.284371
MARCH7 membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase 0.279724
DLD dihydrolipoamide dehydrogenase 0.271174
HSH2D hematopoietic SH2 domain containing 0.261952
FMR1 fragile X mental retardation 1 0.251366
GPX5 glutathione peroxidase 5 0.249608
GPX4 glutathione peroxidase 4 0.246799
GJA8 gap junction protein, alpha 8, 50kDa 0.241895
GPX1 glutathione peroxidase 1 0.232489
CRYBB2 crystallin, beta B2 0.230063
ALB albumin 0.22937
PAH phenylalanine hydroxylase 0.223165
SOD2 superoxide dismutase 2, mitochondrial 0.222822
RPIA ribose 5-phosphate isomerase A 0.211261
APTX aprataxin 0.206913
ROM1 retinal outer segment membrane protein 1 0.196459
IMMT inner membrane protein, mitochondrial 0.191408
CYGB cytoglobin 0.190168
GJA4 gap junction protein, alpha 4, 37kDa 0.179802
IFITM2 interferon induced transmembrane protein 2 0.176215
CAT catalase 0.174617
HTN3 histatin 3 0.173571
FHIT fragile histidine triad 0.172544
MGMT O-6-methylguanine-DNA methyltransferase 0.15574
SP1 Sp1 transcription factor 0.149076
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 0.14539
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1 0.143738