phenylketonuria Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores
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)
Similar Terms
Downloads & Tools

Genes

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

Symbol Name Standardized Value
PAH phenylalanine hydroxylase 4.78804
QDPR quinoid dihydropteridine reductase 2.58335
PTS 6-pyruvoyltetrahydropterin synthase 1.64936
SPR sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase) 1.5934
GCH1 GTP cyclohydrolase 1 1.39433
PCBD1 pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha 1.37032
BTD biotinidase 1.05219
HMGCL 3-hydroxymethyl-3-methylglutaryl-CoA lyase 1.01596
BDH1 3-hydroxybutyrate dehydrogenase, type 1 1.01554
TPH1 tryptophan hydroxylase 1 0.986007
GPX5 glutathione peroxidase 5 0.979268
GPX4 glutathione peroxidase 4 0.975482
GPX1 glutathione peroxidase 1 0.958705
SLC1A5 solute carrier family 1 (neutral amino acid transporter), member 5 0.909787
TCTA T-cell leukemia translocation altered 0.866321
TH tyrosine hydroxylase 0.824948
CKAP5 cytoskeleton associated protein 5 0.794181
NIPSNAP1 nipsnap homolog 1 (C. elegans) 0.793771
CSN1S1 casein alpha s1 0.786803
OXCT1 3-oxoacid CoA transferase 1 0.752492
FGD1 FYVE, RhoGEF and PH domain containing 1 0.751271
PKLR pyruvate kinase, liver and RBC 0.741923
GALT galactose-1-phosphate uridylyltransferase 0.739894
PKM pyruvate kinase, muscle 0.739894
TTR transthyretin 0.694702
ENTPD8 ectonucleoside triphosphate diphosphohydrolase 8 0.687891
GCHFR GTP cyclohydrolase I feedback regulator 0.683493
ENTPD3 ectonucleoside triphosphate diphosphohydrolase 3 0.663181
MMD monocyte to macrophage differentiation-associated 0.661594
UPB1 ureidopropionase, beta 0.659215
RPL13A ribosomal protein L13a 0.648533
PLXNB3 plexin B3 0.629242
ST6GALNAC1 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 0.625319
EFS embryonal Fyn-associated substrate 0.603811
OIT3 oncoprotein induced transcript 3 0.577327
QTRT1 queuine tRNA-ribosyltransferase 1 0.565666
INPP5J inositol polyphosphate-5-phosphatase J 0.561392
ACAT1 acetyl-CoA acetyltransferase 1 0.555956
BCKDK branched chain ketoacid dehydrogenase kinase 0.546644
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit 0.546256
VIL1 villin 1 0.544705
IL31RA interleukin 31 receptor A 0.533088
MS4A3 membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific) 0.526904
PGM1 phosphoglucomutase 1 0.526904
ADSL adenylosuccinate lyase 0.514186
G6PD glucose-6-phosphate dehydrogenase 0.502675
PRDM5 PR domain containing 5 0.496557
TYR tyrosinase 0.481705
SOSTDC1 sclerostin domain containing 1 0.456355
GAA glucosidase, alpha; acid 0.456355
MLPH melanophilin 0.437906
CYP11A1 cytochrome P450, family 11, subfamily A, polypeptide 1 0.429266
GCDH glutaryl-CoA dehydrogenase 0.421016
BGLAP bone gamma-carboxyglutamate (gla) protein 0.414276
SLC5A7 solute carrier family 5 (sodium/choline cotransporter), member 7 0.406051
FABP3 fatty acid binding protein 3, muscle and heart 0.398589
MVK mevalonate kinase 0.389653
SRSF5 serine/arginine-rich splicing factor 5 0.388909
NFIA nuclear factor I/A 0.386308
MGAM maltase-glucoamylase 0.375179
NFIB nuclear factor I/B 0.373328
ZNF469 zinc finger protein 469 0.364824
PSPH phosphoserine phosphatase 0.362609
HADH hydroxyacyl-CoA dehydrogenase 0.362239
CAT catalase 0.360764
ASS1 argininosuccinate synthase 1 0.347511
UBE2H ubiquitin-conjugating enzyme E2H 0.344207
DHFR dihydrofolate reductase 0.340539
CS citrate synthase 0.337242
ALPPL2 alkaline phosphatase, placental-like 2 0.33651
ALPP alkaline phosphatase, placental 0.336144
ALPL alkaline phosphatase, liver/bone/kidney 0.335778
GSTZ1 glutathione S-transferase zeta 1 0.335046
ACSS2 acyl-CoA synthetase short-chain family member 2 0.329565
HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase 0.322637
MBP myelin basic protein 0.316819
SRSF3 serine/arginine-rich splicing factor 3 0.307395
C1QTNF5 C1q and tumor necrosis factor related protein 5 0.297651
SLC43A2 solute carrier family 43 (amino acid system L transporter), member 2 0.293694
ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 0.291539
DIO1 deiodinase, iodothyronine, type I 0.282225
ARSE arylsulfatase E (chondrodysplasia punctata 1) 0.28151
HAL histidine ammonia-lyase 0.274732
NFIC nuclear factor I/C (CCAAT-binding transcription factor) 0.271174
CNDP1 carnosine dipeptidase 1 (metallopeptidase M20 family) 0.270819
GSR glutathione reductase 0.269753
NFIX nuclear factor I/X (CCAAT-binding transcription factor) 0.268687
OTC ornithine carbamoyltransferase 0.266913
FTL ferritin, light polypeptide 0.261599
FTH1 ferritin, heavy polypeptide 1 0.261599
ADIPOQ adiponectin, C1Q and collagen domain containing 0.257005
PCCB propionyl CoA carboxylase, beta polypeptide 0.256299
SOD2 superoxide dismutase 2, mitochondrial 0.248905
VIMP VCP-interacting membrane selenoprotein 0.248203
TERF2 telomeric repeat binding factor 2 0.247852
TPH2 tryptophan hydroxylase 2 0.247501
PCP2 Purkinje cell protein 2 0.244696
GML glycosylphosphatidylinositol anchored molecule like 0.23666
DNAH8 dynein, axonemal, heavy chain 8 0.235616
MDH1 malate dehydrogenase 1, NAD (soluble) 0.227642
CUTA cutA divalent cation tolerance homolog (E. coli) 0.207578
GALE UDP-galactose-4-epimerase 0.206248
MYO5A myosin VA (heavy chain 12, myoxin) 0.202946
GLS glutaminase 0.200982
TMC6 transmembrane channel-like 6 0.200331
DYNLRB1 dynein, light chain, roadblock-type 1 0.19582
PGD phosphogluconate dehydrogenase 0.195501
DDX21 DEAD (Asp-Glu-Ala-Asp) box helicase 21 0.192657
SUOX sulfite oxidase 0.190168
INS insulin 0.185313
ASL argininosuccinate lyase 0.182666
ALB albumin 0.174881
LDHAL6B lactate dehydrogenase A-like 6B 0.174093
CPA6 carboxypeptidase A6 0.171286
ACADS acyl-CoA dehydrogenase, C-2 to C-3 short chain 0.171036
PLEC plectin 0.170054
HEXA hexosaminidase A (alpha polypeptide) 0.166544
TNXB tenascin XB 0.165655
DPYSL2 dihydropyrimidinase-like 2 0.164571
TALDO1 transaldolase 1 0.164359
SZRD1 SUZ RNA binding domain containing 1 0.160203
ACP1 acid phosphatase 1, soluble 0.158951
ETFA electron-transfer-flavoprotein, alpha polypeptide 0.157929