Phenylketonuria Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores 2025
Category disease or phenotype associations
Type disease
Description An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional. (Human Disease Ontology, DOID_9281)
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Genes

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

Symbol Name Standardized Value
PAH phenylalanine hydroxylase 4.0
QDPR quinoid dihydropteridine reductase 2.933
DNAJC12 DnaJ (Hsp40) homolog, subfamily C, member 12 2.782
PCBD1 pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha 2.459
SPR sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase) 2.405
ACADM acyl-CoA dehydrogenase, C-4 to C-12 straight chain 2.369
ADSL adenylosuccinate lyase 2.35
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase) 2.288
OTC ornithine carbamoyltransferase 2.275
GCDH glutaryl-CoA dehydrogenase 2.158
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 2.151
HMGCL 3-hydroxymethyl-3-methylglutaryl-CoA lyase 2.103
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria 2.099
ACADVL acyl-CoA dehydrogenase, very long chain 2.092
HPD 4-hydroxyphenylpyruvate dioxygenase 2.092
BTD biotinidase 2.069
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit 2.069
SLC25A13 solute carrier family 25 (aspartate/glutamate carrier), member 13 2.045
SLC22A5 solute carrier family 22 (organic cation/carnitine transporter), member 5 2.022
PTS 6-pyruvoyltetrahydropterin synthase 2.01
SMN2 survival of motor neuron 2, centromeric 2.007
GCH1 GTP cyclohydrolase 1 1.993
NAGS N-acetylglutamate synthase 1.985
AGMO alkylglycerol monooxygenase 1.984
CSN3 casein kappa 1.982
TH tyrosine hydroxylase 1.978
SMN1 survival of motor neuron 1, telomeric 1.975
PCCB propionyl CoA carboxylase, beta polypeptide 1.971
BCKDHB branched chain keto acid dehydrogenase E1, beta polypeptide 1.958
ACADS acyl-CoA dehydrogenase, C-2 to C-3 short chain 1.958
DDC dopa decarboxylase (aromatic L-amino acid decarboxylase) 1.942
TTR transthyretin 1.916
TYR tyrosinase 1.912
SLC6A19 solute carrier family 6 (neutral amino acid transporter), member 19 1.904
GJB2 gap junction protein, beta 2, 26kDa 1.9
GALT galactose-1-phosphate uridylyltransferase 1.899
GAMT guanidinoacetate N-methyltransferase 1.891
MTHFR methylenetetrahydrofolate reductase (NAD(P)H) 1.889
GPX6 glutathione peroxidase 6 1.872
GPX3 glutathione peroxidase 3 1.872
GPX5 glutathione peroxidase 5 1.871
ATP7B ATPase, Cu++ transporting, beta polypeptide 1.87
IDUA iduronidase, alpha-L- 1.87
GPX7 glutathione peroxidase 7 1.868
INS insulin 1.868
GPX8 glutathione peroxidase 8 (putative) 1.867
TPH1 tryptophan hydroxylase 1 1.86
GPX2 glutathione peroxidase 2 1.854
CBS cystathionine-beta-synthase 1.848
ALB albumin 1.844
GLA galactosidase, alpha 1.843
HBB hemoglobin, beta 1.841
CPT2 carnitine palmitoyltransferase 2 1.825
G6PD glucose-6-phosphate dehydrogenase 1.823
BCKDHA branched chain keto acid dehydrogenase E1, alpha polypeptide 1.8
SLC7A5 solute carrier family 7 (amino acid transporter light chain, L system), member 5 1.792
ETFDH electron-transferring-flavoprotein dehydrogenase 1.788
IDS iduronate 2-sulfatase 1.777
TPH2 tryptophan hydroxylase 2 1.773
GALC galactosylceramidase 1.771
MECP2 methyl CpG binding protein 2 1.767
PCCA propionyl CoA carboxylase, alpha polypeptide 1.765
FMR1 fragile X mental retardation 1 1.762
MMUT methylmalonyl-CoA mutase 1.76
H6PD hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) 1.735
CPS1 carbamoyl-phosphate synthase 1, mitochondrial 1.731
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 1.725
GALK1 galactokinase 1 1.717
DMD dystrophin 1.694
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2 1.693
DHFR dihydrofolate reductase 1.692
DHFR2 dihydrofolate reductase 2 1.691
GCHFR GTP cyclohydrolase I feedback regulator 1.685
MAT1A methionine adenosyltransferase I, alpha 1.684
PCSK9 proprotein convertase subtilisin/kexin type 9 1.681
TAT tyrosine aminotransferase 1.678
MAOA monoamine oxidase A 1.671
ACAD8 acyl-CoA dehydrogenase family, member 8 1.67
HGD homogentisate 1,2-dioxygenase 1.669
MMAA methylmalonic aciduria (cobalamin deficiency) cblA type 1.652
ASL argininosuccinate lyase 1.647
MCCC1 methylcrotonoyl-CoA carboxylase 1 (alpha) 1.619
MMADHC methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria 1.616
F9 coagulation factor IX 1.613
ASS1 argininosuccinate synthase 1 1.605
ACADSB acyl-CoA dehydrogenase, short/branched chain 1.604
SLC26A4 solute carrier family 26 (anion exchanger), member 4 1.592
APOE apolipoprotein E 1.588
GPR139 G protein-coupled receptor 139 1.588
HADH hydroxyacyl-CoA dehydrogenase 1.578
TMLHE trimethyllysine hydroxylase, epsilon 1.578
ADA adenosine deaminase 1.577
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8 1.564
COMT catechol-O-methyltransferase 1.538
SHANK3 SH3 and multiple ankyrin repeat domains 3 1.523
MAOB monoamine oxidase B 1.521
NLGN4X neuroligin 4, X-linked 1.518
BRCA1 breast cancer 1, early onset 1.517
SLC7A7 solute carrier family 7 (amino acid transporter light chain, y+L system), member 7 1.513
AGXT alanine-glyoxylate aminotransferase 1.51
OAT ornithine aminotransferase 1.499
APOB apolipoprotein B 1.498
LDLR low density lipoprotein receptor 1.496
PNPO pyridoxamine 5'-phosphate oxidase 1.495
HAL histidine ammonia-lyase 1.487
TNF tumor necrosis factor 1.485
NIPSNAP1 nipsnap homolog 1 (C. elegans) 1.474
MMAB methylmalonic aciduria (cobalamin deficiency) cblB type 1.472
ERF Ets2 repressor factor 1.458
ETFA electron-transfer-flavoprotein, alpha polypeptide 1.455
LALBA lactalbumin, alpha- 1.447
IL6 interleukin 6 1.444
SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4 1.44
GATM glycine amidinotransferase (L-arginine:glycine amidinotransferase) 1.438
BDNF brain-derived neurotrophic factor 1.438
NPC1 Niemann-Pick disease, type C1 1.434
GLDC glycine dehydrogenase (decarboxylating) 1.433
HBE1 hemoglobin, epsilon 1 1.432
GPT glutamic-pyruvate transaminase (alanine aminotransferase) 1.426
GSTZ1 glutathione S-transferase zeta 1 1.424
GCG glucagon 1.423
POMC proopiomelanocortin 1.423
SUOX sulfite oxidase 1.422
HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase 1.419
SHANK2 SH3 and multiple ankyrin repeat domains 2 1.419
GALNS galactosamine (N-acetyl)-6-sulfatase 1.417
NLGN3 neuroligin 3 1.415
ALAD aminolevulinate dehydratase 1.413
PRODH proline dehydrogenase (oxidase) 1 1.409
MCCC2 methylcrotonoyl-CoA carboxylase 2 (beta) 1.407
ALDH5A1 aldehyde dehydrogenase 5 family, member A1 1.404
IL1B interleukin 1, beta 1.4
SLC25A20 solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 1.399
MGAM maltase-glucoamylase 1.376
RPE65 retinal pigment epithelium-specific protein 65kDa 1.376
BRCA2 breast cancer 2, early onset 1.374
MBP myelin basic protein 1.374
GHRL ghrelin/obestatin prepropeptide 1.368
COQ5 coenzyme Q5 homolog, methyltransferase (S. cerevisiae) 1.368
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1 1.365
SLC3A2 solute carrier family 3 (amino acid transporter heavy chain), member 2 1.359
SLC25A15 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 1.351
SI sucrase-isomaltase (alpha-glucosidase) 1.351
AMT aminomethyltransferase 1.347
CEP290 centrosomal protein 290kDa 1.347
CKB creatine kinase, brain 1.346
NRXN1 neurexin 1 1.345
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3 1.341
HLCS holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) 1.34
CKM creatine kinase, muscle 1.326
CKMT2 creatine kinase, mitochondrial 2 (sarcomeric) 1.323
BCKDK branched chain ketoacid dehydrogenase kinase 1.32
IFNG interferon, gamma 1.318
BCL11A B-cell CLL/lymphoma 11A (zinc finger protein) 1.315
CKMT1B creatine kinase, mitochondrial 1B 1.314
QTRT2 queuine tRNA-ribosyltransferase accessory subunit 2 1.304
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase 1.304
OXCT2 3-oxoacid CoA transferase 2 1.302
HBA2 hemoglobin, alpha 2 1.302
LMBRD1 LMBR1 domain containing 1 1.3
ALDH7A1 aldehyde dehydrogenase 7 family, member A1 1.296
APOBEC1 apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 1.294
CRP C-reactive protein, pentraxin-related 1.293
NOS3 nitric oxide synthase 3 (endothelial cell) 1.293
IGF1 insulin-like growth factor 1 (somatomedin C) 1.293
NAGLU N-acetylglucosaminidase, alpha 1.289
ARSA arylsulfatase A 1.289
IL10 interleukin 10 1.288
PKM pyruvate kinase, muscle 1.285
CDA cytidine deaminase 1.282
SHANK1 SH3 and multiple ankyrin repeat domains 1 1.276
DNAJB1 DnaJ (Hsp40) homolog, subfamily B, member 1 1.274
TYMP thymidine phosphorylase 1.27
UPB1 ureidopropionase, beta 1.269
BGLAP bone gamma-carboxyglutamate (gla) protein 1.267
UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1 1.264
AHCY adenosylhomocysteinase 1.263
UGT1A10 UDP glucuronosyltransferase 1 family, polypeptide A10 1.26
CTRB2 chymotrypsinogen B2 1.257
OR6C65 olfactory receptor, family 6, subfamily C, member 65 1.257
HBA1 hemoglobin, alpha 1 1.256
APP amyloid beta (A4) precursor protein 1.255
NPC2 Niemann-Pick disease, type C2 1.251
MTOR mechanistic target of rapamycin (serine/threonine kinase) 1.251
CTRB1 chymotrypsinogen B1 1.251
SLC3A1 solute carrier family 3 (amino acid transporter heavy chain), member 1 1.249
UGT1A8 UDP glucuronosyltransferase 1 family, polypeptide A8 1.244
TP53 tumor protein p53 1.243
ANGPTL3 angiopoietin-like 3 1.241
TPP1 tripeptidyl peptidase I 1.238
UGT1A6 UDP glucuronosyltransferase 1 family, polypeptide A6 1.236
ACY1 aminoacylase 1 1.236
DRD2 dopamine receptor D2 1.233
UGT1A4 UDP glucuronosyltransferase 1 family, polypeptide A4 1.231
NKX2-5 NK2 homeobox 5 1.231
GCSH glycine cleavage system protein H (aminomethyl carrier) 1.23
LEP leptin 1.227
OPHN1 oligophrenin 1 1.227
MCEE methylmalonyl CoA epimerase 1.226
FTO fat mass and obesity associated 1.222
CTH cystathionine gamma-lyase 1.221
XYLT2 xylosyltransferase II 1.22
UGT1A7 UDP glucuronosyltransferase 1 family, polypeptide A7 1.219
DRD4 dopamine receptor D4 1.217
G6PC3 glucose 6 phosphatase, catalytic, 3 1.215
DLD dihydrolipoamide dehydrogenase 1.213
SLC18A2 solute carrier family 18 (vesicular monoamine transporter), member 2 1.213
ASNS asparagine synthetase (glutamine-hydrolyzing) 1.211
TMC1 transmembrane channel-like 1 1.21
CD4 CD4 molecule 1.205
ASPG asparaginase 1.205
CHD7 chromodomain helicase DNA binding protein 7 1.204
STXBP1 syntaxin binding protein 1 1.202
POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa 1.201
ARG1 arginase 1 1.201
SLC6A20 solute carrier family 6 (proline IMINO transporter), member 20 1.197
NLGN2 neuroligin 2 1.197
UBE3A ubiquitin protein ligase E3A 1.196
SNCA synuclein, alpha (non A4 component of amyloid precursor) 1.191
SUMF1 sulfatase modifying factor 1 1.19
PPARG peroxisome proliferator-activated receptor gamma 1.188
HBD hemoglobin, delta 1.188
TSC2 tuberous sclerosis 2 1.188
G6PC2 glucose-6-phosphatase, catalytic, 2 1.187
POR P450 (cytochrome) oxidoreductase 1.185
LRTOMT leucine rich transmembrane and O-methyltransferase domain containing 1.184
NLGN4Y neuroligin 4, Y-linked 1.183
GRIN2B glutamate receptor, ionotropic, N-methyl D-aspartate 2B 1.182
PMM2 phosphomannomutase 2 1.179
LPL lipoprotein lipase 1.178
SOD1 superoxide dismutase 1, soluble 1.177
IL2RG interleukin 2 receptor, gamma 1.176
PTH parathyroid hormone 1.174
MOCS1 molybdenum cofactor synthesis 1 1.172
GRM5 glutamate receptor, metabotropic 5 1.168
ASPA aspartoacylase 1.168
IVD isovaleryl-CoA dehydrogenase 1.168
PTEN phosphatase and tensin homolog 1.167
PPP1R12C protein phosphatase 1, regulatory subunit 12C 1.167
SLC7A9 solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9 1.165
HFE hemochromatosis 1.163
SERPINA7 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 1.162
HSPE1 heat shock 10kDa protein 1 1.161
DUOX2 dual oxidase 2 1.16
CNTNAP2 contactin associated protein-like 2 1.159
DBH dopamine beta-hydroxylase (dopamine beta-monooxygenase) 1.157
SNAP25 synaptosomal-associated protein, 25kDa 1.154
NOS1 nitric oxide synthase 1 (neuronal) 1.153
CP ceruloplasmin (ferroxidase) 1.147
CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2 1.146
COQ7 coenzyme Q7 homolog, ubiquinone (yeast) 1.145
PC pyruvate carboxylase 1.145
ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5 1.144
GLB1 galactosidase, beta 1 1.144
ARG2 arginase 2 1.143
MAPT microtubule-associated protein tau 1.142
DIO1 deiodinase, iodothyronine, type I 1.141
COQ4 coenzyme Q4 1.14
FKBP14 FK506 binding protein 14, 22 kDa 1.139
HTT huntingtin 1.135
CYP2D6 cytochrome P450, family 2, subfamily D, polypeptide 6 1.132
TBX5 T-box 5 1.129
HAO2 hydroxyacid oxidase 2 (long chain) 1.127
PHGDH phosphoglycerate dehydrogenase 1.122
PXDN peroxidasin 1.121
CDKL5 cyclin-dependent kinase-like 5 1.121
GAPDH glyceraldehyde-3-phosphate dehydrogenase 1.12
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11 1.119
PGM1 phosphoglucomutase 1 1.118
DHCR7 7-dehydrocholesterol reductase 1.118
COQ8A coenzyme Q8A 1.118
GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A 1.116
NANS N-acetylneuraminic acid synthase 1.115
PXDNL peroxidasin-like 1.115
CASR calcium-sensing receptor 1.114
MYO7A myosin VIIA 1.114
PPIG peptidylprolyl isomerase G (cyclophilin G) 1.113
OXT oxytocin/neurophysin I prepropeptide 1.113
APOA5 apolipoprotein A-V 1.112
SLC22A4 solute carrier family 22 (organic cation/zwitterion transporter), member 4 1.112
DUOXA2 dual oxidase maturation factor 2 1.111
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6 1.109
GATA4 GATA binding protein 4 1.108
GPR142 G protein-coupled receptor 142 1.106
HSPA4 heat shock 70kDa protein 4 1.105
PYY peptide YY 1.104
AFP alpha-fetoprotein 1.104
LIPA lipase A, lysosomal acid, cholesterol esterase 1.102
L2HGDH L-2-hydroxyglutarate dehydrogenase 1.102
CPT1A carnitine palmitoyltransferase 1A (liver) 1.101
IYD iodotyrosine deiodinase 1.1
NLGN1 neuroligin 1 1.099
QTRT1 queuine tRNA-ribosyltransferase 1 1.097
DAO D-amino-acid oxidase 1.094
MAF v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog 1.093
MOCS2 molybdenum cofactor synthesis 2 1.092
FBN1 fibrillin 1 1.09
EIF2B2 eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa 1.087
PLP1 proteolipid protein 1 1.086
BCAT2 branched chain amino-acid transaminase 2, mitochondrial 1.083
CDH9 cadherin 9, type 2 (T1-cadherin) 1.083
SGSH N-sulfoglucosamine sulfohydrolase 1.083
LTF lactotransferrin 1.083
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4 1.081
AARS2 alanyl-tRNA synthetase 2, mitochondrial 1.08
SLC7A8 solute carrier family 7 (amino acid transporter light chain, L system), member 8 1.078
ACTB actin, beta 1.077
CD34 CD34 molecule 1.075
GLYCTK glycerate kinase 1.075
GLB1L galactosidase, beta 1-like 1.074
CDH10 cadherin 10, type 2 (T2-cadherin) 1.071
SLC2A2 solute carrier family 2 (facilitated glucose transporter), member 2 1.071
ASMT acetylserotonin O-methyltransferase 1.07
NAT2 N-acetyltransferase 2 (arylamine N-acetyltransferase) 1.069
HNF1A HNF1 homeobox A 1.069
UNG uracil-DNA glycosylase 1.069
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit 1.068
C4A complement component 4A (Rodgers blood group) 1.065
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter) 1.064
RHO rhodopsin 1.061
MC4R melanocortin 4 receptor 1.059
ATP12A ATPase, H+/K+ transporting, nongastric, alpha polypeptide 1.059
ATP4A ATPase, H+/K+ exchanging, alpha polypeptide 1.058
PYROXD2 pyridine nucleotide-disulphide oxidoreductase domain 2 1.056
KYAT1 kynurenine aminotransferase 1 1.055
RPP30 ribonuclease P/MRP 30kDa subunit 1.053
OXTR oxytocin receptor 1.052
GUSB glucuronidase, beta 1.05
NF1 neurofibromin 1 1.049
NAXE NAD(P)HX epimerase 1.049
TGFB1 transforming growth factor, beta 1 1.048
ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11 1.046
KIAA0319L KIAA0319-like 1.046
ALDH4A1 aldehyde dehydrogenase 4 family, member A1 1.044
DNAJB2 DnaJ (Hsp40) homolog, subfamily B, member 2 1.043
DNAH8 dynein, axonemal, heavy chain 8 1.043
CD8A CD8a molecule 1.042
TCF7L2 transcription factor 7-like 2 (T-cell specific, HMG-box) 1.041
TBL1X transducin (beta)-like 1X-linked 1.041
CHRNE cholinergic receptor, nicotinic, epsilon (muscle) 1.04
POLG polymerase (DNA directed), gamma 1.036
SLC6A15 solute carrier family 6 (neutral amino acid transporter), member 15 1.034
SMAD9 SMAD family member 9 1.033
MYBPC3 myosin binding protein C, cardiac 1.033
HYKK hydroxylysine kinase 1.033
STAP1 signal transducing adaptor family member 1 1.03
GLUL glutamate-ammonia ligase 1.029
DARS2 aspartyl-tRNA synthetase 2, mitochondrial 1.028
COQ6 coenzyme Q6 monooxygenase 1.027
ACE angiotensin I converting enzyme 1.027
PDSS1 prenyl (decaprenyl) diphosphate synthase, subunit 1 1.026
MB myoglobin 1.026
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase 1.025
SLC43A2 solute carrier family 43 (amino acid system L transporter), member 2 1.024
SLC1A5 solute carrier family 1 (neutral amino acid transporter), member 5 1.023
LAMA2 laminin, alpha 2 1.022
APOA1 apolipoprotein A-I 1.02
COQ9 coenzyme Q9 1.017
GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3 1.016
COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen) 1.012
MLYCD malonyl-CoA decarboxylase 1.012
ACADL acyl-CoA dehydrogenase, long chain 1.011
OR6C6 olfactory receptor, family 6, subfamily C, member 6 1.007
FOXG1 forkhead box G1 1.005
TAS2R1 taste receptor, type 2, member 1 1.005
SLC19A3 solute carrier family 19 (thiamine transporter), member 3 1.001
CCR5 chemokine (C-C motif) receptor 5 (gene/pseudogene) 1.001
NRXN2 neurexin 2 1.0