Galactosemia Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores 2025
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

293 genes co-occuring with the disease Galactosemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Symbol Name Standardized Value
GALT galactose-1-phosphate uridylyltransferase 3.861
GALK1 galactokinase 1 3.695
GALE UDP-galactose-4-epimerase 3.212
GALM galactose mutarotase (aldose 1-epimerase) 2.976
AKR1B1 aldo-keto reductase family 1, member B1 (aldose reductase) 2.577
SLC25A13 solute carrier family 25 (aspartate/glutamate carrier), member 13 2.441
UGP2 UDP-glucose pyrophosphorylase 2 2.404
GALK2 galactokinase 2 2.4
AMH anti-Mullerian hormone 2.343
GDF9 growth differentiation factor 9 2.289
ALG2 ALG2, alpha-1,3/1,6-mannosyltransferase 2.25
BTD biotinidase 2.221
BMP15 bone morphogenetic protein 15 2.147
PMM2 phosphomannomutase 2 2.13
SLC2A2 solute carrier family 2 (facilitated glucose transporter), member 2 2.074
FOXL2 forkhead box L2 2.032
HMGCL 3-hydroxymethyl-3-methylglutaryl-CoA lyase 2.03
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit 2.021
CRYGS crystallin, gamma S 2.013
PGM1 phosphoglucomutase 1 1.992
MPI mannose phosphate isomerase 1.949
POLG polymerase (DNA directed), gamma 1.934
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 1.914
BFSP2 beaded filament structural protein 2, phakinin 1.903
ACADM acyl-CoA dehydrogenase, C-4 to C-12 straight chain 1.903
GPT glutamic-pyruvate transaminase (alanine aminotransferase) 1.901
PAH phenylalanine hydroxylase 1.88
SORD sorbitol dehydrogenase 1.878
UGDH UDP-glucose 6-dehydrogenase 1.875
ACADVL acyl-CoA dehydrogenase, very long chain 1.854
GJA8 gap junction protein, alpha 8, 50kDa 1.836
G6PD glucose-6-phosphate dehydrogenase 1.823
LGALS7B lectin, galactoside-binding, soluble, 7B 1.816
LGALS7 lectin, galactoside-binding, soluble, 7 1.815
FMR1 fragile X mental retardation 1 1.808
MPV17 MpV17 mitochondrial inner membrane protein 1.795
FSHR follicle stimulating hormone receptor 1.79
ALB albumin 1.779
OCRL oculocerebrorenal syndrome of Lowe 1.771
GJA3 gap junction protein, alpha 3, 46kDa 1.76
CRYBB2 crystallin, beta B2 1.753
DGUOK deoxyguanosine kinase 1.749
SLC16A12 solute carrier family 16, member 12 1.745
PITX3 paired-like homeodomain 3 1.739
BFSP1 beaded filament structural protein 1, filensin 1.738
CRYGD crystallin, gamma D 1.735
HADH hydroxyacyl-CoA dehydrogenase 1.725
B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 1.724
OTC ornithine carbamoyltransferase 1.717
INS insulin 1.702
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 1.702
PYGL phosphorylase, glycogen, liver 1.697
FIGLA folliculogenesis specific basic helix-loop-helix 1.696
FOXP2 forkhead box P2 1.686
SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 1.679
H6PD hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) 1.678
NOBOX NOBOX oogenesis homeobox 1.678
CLC Charcot-Leyden crystal galectin 1.676
PYGB phosphorylase, glycogen; brain 1.672
PYGM phosphorylase, glycogen, muscle 1.666
FOXE3 forkhead box E3 1.659
CRYBB3 crystallin, beta B3 1.645
F2 coagulation factor II (thrombin) 1.636
CRYAA crystallin, alpha A 1.612
ALG6 ALG6, alpha-1,3-glucosyltransferase 1.61
TDRD7 tudor domain containing 7 1.609
ALG1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase 1.608
DIAPH2 diaphanous-related formin 2 1.604
MAN1B1 mannosidase, alpha, class 1B, member 1 1.602
ASS1 argininosuccinate synthase 1 1.6
UAP1 UDP-N-acetylglucosamine pyrophosphorylase 1 1.593
CCDC169-SOHLH2 CCDC169-SOHLH2 readthrough 1.593
GAMT guanidinoacetate N-methyltransferase 1.589
SOHLH2 spermatogenesis and oogenesis specific basic helix-loop-helix 2 1.583
CRYBB1 crystallin, beta B1 1.579
CPT2 carnitine palmitoyltransferase 2 1.574
ADSL adenylosuccinate lyase 1.562
EIF2B2 eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa 1.557
MPDU1 mannose-P-dolichol utilization defect 1 1.553
MCM8 minichromosome maintenance complex component 8 1.553
PC pyruvate carboxylase 1.55
HSF4 heat shock transcription factor 4 1.547
BCKDHB branched chain keto acid dehydrogenase E1, beta polypeptide 1.544
ALDOB aldolase B, fructose-bisphosphate 1.531
SLC35A1 solute carrier family 35 (CMP-sialic acid transporter), member A1 1.527
CTNS cystinosin, lysosomal cystine transporter 1.511
AFP alpha-fetoprotein 1.506
CRYBA1 crystallin, beta A1 1.49
GATM glycine amidinotransferase (L-arginine:glycine amidinotransferase) 1.483
SYCE1 synaptonemal complex central element protein 1 1.47
MAT1A methionine adenosyltransferase I, alpha 1.469
HINT3 histidine triad nucleotide binding protein 3 1.468
IGF1 insulin-like growth factor 1 (somatomedin C) 1.467
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase 1.462
TMEM165 transmembrane protein 165 1.462
LIM2 lens intrinsic membrane protein 2, 19kDa 1.456
STAG3 stromal antigen 3 1.455
G6PC3 glucose 6 phosphatase, catalytic, 3 1.455
SMN2 survival of motor neuron 2, centromeric 1.452
G6PC2 glucose-6-phosphatase, catalytic, 2 1.448
LHX8 LIM homeobox 8 1.447
ATP8B1 ATPase, aminophospholipid transporter, class I, type 8B, member 1 1.444
COG7 component of oligomeric golgi complex 7 1.444
HNF1A HNF1 homeobox A 1.443
TALDO1 transaldolase 1 1.441
HFM1 HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) 1.436
GPT2 glutamic pyruvate transaminase (alanine aminotransferase) 2 1.433
SLC22A5 solute carrier family 22 (organic cation/carnitine transporter), member 5 1.429
RIC1 RAB6A GEF complex partner 1 1.421
SMN1 survival of motor neuron 1, telomeric 1.42
WDR87 WD repeat domain 87 1.418
MCM9 minichromosome maintenance complex component 9 1.412
GCK glucokinase (hexokinase 4) 1.411
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2 1.4
COG1 component of oligomeric golgi complex 1 1.393
SLC35A2 solute carrier family 35 (UDP-galactose transporter), member A2 1.389
SLC35C1 solute carrier family 35 (GDP-fucose transporter), member C1 1.383
COG4 component of oligomeric golgi complex 4 1.38
DOLK dolichol kinase 1.376
NAGS N-acetylglutamate synthase 1.371
TYR tyrosinase 1.369
SLC5A1 solute carrier family 5 (sodium/glucose cotransporter), member 1 1.365
IDUA iduronidase, alpha-L- 1.362
MIP major intrinsic protein of lens fiber 1.359
NR5A1 nuclear receptor subfamily 5, group A, member 1 1.358
MTHFR methylenetetrahydrofolate reductase (NAD(P)H) 1.356
ALG3 ALG3, alpha-1,3- mannosyltransferase 1.354
NR0B1 nuclear receptor subfamily 0, group B, member 1 1.346
AIRE autoimmune regulator 1.344
TWNK twinkle mtDNA helicase 1.342
GNRH1 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone) 1.341
ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4 1.337
PAX6 paired box 6 1.333
GCDH glutaryl-CoA dehydrogenase 1.333
PCCA propionyl CoA carboxylase, alpha polypeptide 1.326
FRMPD4 FERM and PDZ domain containing 4 1.32
FYCO1 FYVE and coiled-coil domain containing 1 1.317
ETFDH electron-transferring-flavoprotein dehydrogenase 1.317
ATP6AP1 ATPase, H+ transporting, lysosomal accessory protein 1 1.317
ASL argininosuccinate lyase 1.311
COG2 component of oligomeric golgi complex 2 1.3
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase) 1.3
DYDC2 DPY30 domain containing 2 1.299
EPHA2 EPH receptor A2 1.298
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8 1.295
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 1.291
BCKDHA branched chain keto acid dehydrogenase E1, alpha polypeptide 1.287
ALG8 ALG8, alpha-1,3-glucosyltransferase 1.282
MVK mevalonate kinase 1.275
SLC25A20 solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 1.273
XYLB xylulokinase homolog (H. influenzae) 1.273
ALG11 ALG11, alpha-1,2-mannosyltransferase 1.269
ATP7B ATPase, Cu++ transporting, beta polypeptide 1.268
KCTD3 potassium channel tetramerization domain containing 3 1.268
AGXT alanine-glyoxylate aminotransferase 1.264
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11 1.262
DACH2 dachshund family transcription factor 2 1.259
PEX6 peroxisomal biogenesis factor 6 1.251
KHK ketohexokinase (fructokinase) 1.25
WFS1 Wolfram syndrome 1 (wolframin) 1.25
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4 1.244
CKM creatine kinase, muscle 1.24
APTX aprataxin 1.237
ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11 1.236
SPATA16 spermatogenesis associated 16 1.235
HBA2 hemoglobin, alpha 2 1.235
STT3B STT3B, subunit of the oligosaccharyltransferase complex (catalytic) 1.234
SLC5A3 solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 1.234
DMRT2 doublesex and mab-3 related transcription factor 2 1.231
TAPT1 transmembrane anterior posterior transformation 1 1.231
LARS2 leucyl-tRNA synthetase 2, mitochondrial 1.231
GCG glucagon 1.23
NANOS1 nanos homolog 1 (Drosophila) 1.228
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1 1.227
ZP3 zona pellucida glycoprotein 3 (sperm receptor) 1.227
HBA1 hemoglobin, alpha 1 1.225
MSH4 mutS homolog 4 1.224
F3 coagulation factor III (thromboplastin, tissue factor) 1.222
CRYAB crystallin, alpha B 1.222
FSHB follicle stimulating hormone, beta polypeptide 1.217
MMAA methylmalonic aciduria (cobalamin deficiency) cblA type 1.216
SERPINA7 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 1.216
MFSD6L major facilitator superfamily domain containing 6-like 1.215
PCCB propionyl CoA carboxylase, beta polypeptide 1.209
LCT lactase 1.209
TMEM114 transmembrane protein 114 1.208
CKMT2 creatine kinase, mitochondrial 2 (sarcomeric) 1.205
CKMT1B creatine kinase, mitochondrial 1B 1.204
GALNS galactosamine (N-acetyl)-6-sulfatase 1.203
CKB creatine kinase, brain 1.202
GJB2 gap junction protein, beta 2, 26kDa 1.202
JAG1 jagged 1 1.201
NANOS3 nanos homolog 3 (Drosophila) 1.198
NPC2 Niemann-Pick disease, type C2 1.198
SLC5A9 solute carrier family 5 (sodium/sugar cotransporter), member 9 1.196
CD109 CD109 molecule 1.194
CRYBA4 crystallin, beta A4 1.18
UNC13D unc-13 homolog D (C. elegans) 1.177
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria 1.177
CLCN5 chloride channel, voltage-sensitive 5 1.175
FAM124B family with sequence similarity 124B 1.171
SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member 3 1.168
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1 1.164
EYA1 EYA transcriptional coactivator and phosphatase 1 1.161
MGAM maltase-glucoamylase 1.156
GCNT2 glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) 1.155
ALG13 ALG13, UDP-N-acetylglucosaminyltransferase subunit 1.155
IER3IP1 immediate early response 3 interacting protein 1 1.152
DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic) 1.151
AMDHD2 amidohydrolase domain containing 2 1.151
EIF4ENIF1 eukaryotic translation initiation factor 4E nuclear import factor 1 1.149
SRD5A3 steroid 5 alpha-reductase 3 1.145
MOGS mannosyl-oligosaccharide glucosidase 1.142
PIGO phosphatidylinositol glycan anchor biosynthesis, class O 1.141
DDC dopa decarboxylase (aromatic L-amino acid decarboxylase) 1.14
DIRAS3 DIRAS family, GTP-binding RAS-like 3 1.14
SLC34A1 solute carrier family 34 (type II sodium/phosphate cotransporter), member 1 1.138
TKFC triokinase/FMN cyclase 1.137
HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 1.137
IVD isovaleryl-CoA dehydrogenase 1.135
PSMC3IP PSMC3 interacting protein 1.135
SUCLG1 succinate-CoA ligase, alpha subunit 1.132
COG8 component of oligomeric golgi complex 8 1.131
APOC3 apolipoprotein C-III 1.13
VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog 1.13
CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4 1.124
GMPPA GDP-mannose pyrophosphorylase A 1.123
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal 1.119
DHDDS dehydrodolichyl diphosphate synthase 1.111
ALPG alkaline phosphatase, germ cell 1.107
RUSC2 RUN and SH3 domain containing 2 1.105
GALC galactosylceramidase 1.102
GBA2 glucosidase, beta (bile acid) 2 1.102
AFF2 AF4/FMR2 family, member 2 1.097
PGD phosphogluconate dehydrogenase 1.096
ARX aristaless related homeobox 1.093
EIF2B4 eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa 1.093
ASPA aspartoacylase 1.093
AKT1 v-akt murine thymoma viral oncogene homolog 1 1.09
HAO1 hydroxyacid oxidase (glycolate oxidase) 1 1.089
NUP188 nucleoporin 188kDa 1.087
TJP2 tight junction protein 2 1.086
NANS N-acetylneuraminic acid synthase 1.082
ALPI alkaline phosphatase, intestinal 1.078
CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit 1.078
DNAH8 dynein, axonemal, heavy chain 8 1.073
NOP53 NOP53 ribosome biogenesis factor 1.072
SI sucrase-isomaltase (alpha-glucosidase) 1.072
GLIS3 GLIS family zinc finger 3 1.072
LALBA lactalbumin, alpha- 1.071
CRP C-reactive protein, pentraxin-related 1.07
WNT4 wingless-type MMTV integration site family, member 4 1.069
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 1.068
PPA2 pyrophosphatase (inorganic) 2 1.068
AKR1D1 aldo-keto reductase family 1, member D1 1.058
MAF v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog 1.057
SLC19A2 solute carrier family 19 (thiamine transporter), member 2 1.057
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 1.054
SLC2A5 solute carrier family 2 (facilitated glucose/fructose transporter), member 5 1.051
RPP30 ribonuclease P/MRP 30kDa subunit 1.05
SUOX sulfite oxidase 1.045
SLC7A7 solute carrier family 7 (amino acid transporter light chain, y+L system), member 7 1.044
LSS lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) 1.04
ETHE1 ethylmalonic encephalopathy 1 1.036
ALPP alkaline phosphatase, placental 1.035
COG5 component of oligomeric golgi complex 5 1.033
ATP12A ATPase, H+/K+ transporting, nongastric, alpha polypeptide 1.033
ATP4A ATPase, H+/K+ exchanging, alpha polypeptide 1.033
GLA galactosidase, alpha 1.033
IDS iduronate 2-sulfatase 1.032
PAX2 paired box 2 1.031
COL4A5 collagen, type IV, alpha 5 1.031
ARCN1 archain 1 1.029
ALPL alkaline phosphatase, liver/bone/kidney 1.028
IGFBP3 insulin-like growth factor binding protein 3 1.027
POMT1 protein-O-mannosyltransferase 1 1.024
CLRN1 clarin 1 1.022
AMHR2 anti-Mullerian hormone receptor, type II 1.022
CA2 carbonic anhydrase II 1.02
ACAD8 acyl-CoA dehydrogenase family, member 8 1.019
MRPL38 mitochondrial ribosomal protein L38 1.015
EHHADH enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase 1.013
STXBP2 syntaxin binding protein 2 1.013
DMRT1 doublesex and mab-3 related transcription factor 1 1.012
ZP1 zona pellucida glycoprotein 1 (sperm receptor) 1.011
PMVK phosphomevalonate kinase 1.01
DPY19L2 dpy-19-like 2 (C. elegans) 1.009
ZBTB11 zinc finger and BTB domain containing 11 1.009
TAF1A TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa 1.006
DMC1 DNA meiotic recombinase 1 1.003
SLC25A12 solute carrier family 25 (aspartate/glutamate carrier), member 12 1.003
EIF2B3 eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa 1.001
ALG12 ALG12, alpha-1,6-mannosyltransferase 1.001