acute porphyria Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A porphyria that has_symptom abdominal pain, has_symptom neuropathy, has_symptom autonomic instability and has_symptom psychosis. (Human Disease Ontology, DOID_3133)
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Genes

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

Symbol Name Standardized Value
HMBS hydroxymethylbilane synthase 3.46818
FECH ferrochelatase 3.30088
UROD uroporphyrinogen decarboxylase 3.24142
PPOX protoporphyrinogen oxidase 2.8686
CPOX coproporphyrinogen oxidase 2.76291
UROS uroporphyrinogen III synthase 2.42583
ALAS1 5'-aminolevulinate synthase 1 2.1739
ALAD aminolevulinate dehydratase 1.98575
HFE hemochromatosis 1.92904
ALAS2 5'-aminolevulinate synthase 2 1.8459
FTH1 ferritin, heavy polypeptide 1 1.41139
FTL ferritin, light polypeptide 1.40089
CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2 1.26124
HPX hemopexin 1.08789
TF transferrin 1.08286
DHX8 DEAH (Asp-Glu-Ala-His) box polypeptide 8 1.04251
AVP arginine vasopressin 0.97086
CYP2B6 cytochrome P450, family 2, subfamily B, polypeptide 6 0.939949
TDO2 tryptophan 2,3-dioxygenase 0.920911
CAT catalase 0.879014
SULT2B1 sulfotransferase family, cytosolic, 2B, member 1 0.857724
SLC25A37 solute carrier family 25 (mitochondrial iron transporter), member 37 0.850354
SOD2 superoxide dismutase 2, mitochondrial 0.741923
HAMP hepcidin antimicrobial peptide 0.739488
NPRL3 nitrogen permease regulator-like 3 (S. cerevisiae) 0.605762
ALB albumin 0.589779
CFAP20 cilia and flagella associated protein 20 0.585887
ABCB10 ATP-binding cassette, sub-family B (MDR/TAP), member 10 0.581606
TST thiosulfate sulfurtransferase (rhodanese) 0.557509
INTS8 integrator complex subunit 8 0.540055
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase) 0.523045
PATZ1 POZ (BTB) and AT hook containing zinc finger 1 0.522659
INSC inscuteable homolog (Drosophila) 0.521117
EIF2AK1 eukaryotic translation initiation factor 2-alpha kinase 1 0.500379
CTRB1 chymotrypsinogen B1 0.499614
CNDP2 CNDP dipeptidase 2 (metallopeptidase M20 family) 0.471089
HFE2 hemochromatosis type 2 (juvenile) 0.463149
GCOM1 GRINL1A complex locus 1 0.445052
PC pyruvate carboxylase 0.445052
PRAMEF9 PRAME family member 9 0.433021
PPIG peptidylprolyl isomerase G (cyclophilin G) 0.430768
TFR2 transferrin receptor 2 0.424765
PROC protein C (inactivator of coagulation factors Va and VIIIa) 0.410909
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit 0.406051
PUS1 pseudouridylate synthase 1 0.388538
CD79A CD79a molecule, immunoglobulin-associated alpha 0.385565
CYBRD1 cytochrome b reductase 1 0.380739
TFRC transferrin receptor 0.380368
NOL9 nucleolar protein 9 0.366301
HMOX1 heme oxygenase 1 0.356709
GRIP1 glutamate receptor interacting protein 1 0.354868
SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1 0.354131
HP haptoglobin 0.346409
ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4 0.340906
HPR haptoglobin-related protein 0.340539
KIR2DL3 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 0.331391
VPS11 vacuolar protein sorting 11 homolog (S. cerevisiae) 0.331025
IFNE interferon, epsilon 0.321909
EIF2S1 eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa 0.313189
KYNU kynureninase 0.298371
ACOT1 acyl-CoA thioesterase 1 0.298371
KIR2DL1 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 0.296571
ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group) 0.28616
CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1 0.285086
POMC proopiomelanocortin 0.281868
UGP2 UDP-glucose pyrophosphorylase 2 0.280796
GPX5 glutathione peroxidase 5 0.279011
GPX4 glutathione peroxidase 4 0.276158
NARS asparaginyl-tRNA synthetase 0.272597
TMPRSS13 transmembrane protease, serine 13 0.271174
CHRD chordin 0.269043
IREB2 iron-responsive element binding protein 2 0.266558
ABCB7 ATP-binding cassette, sub-family B (MDR/TAP), member 7 0.264431
GPX1 glutathione peroxidase 1 0.261599
ATP6AP1 ATPase, H+ transporting, lysosomal accessory protein 1 0.260538
ASMT acetylserotonin O-methyltransferase 0.249257
SPTLC1 serine palmitoyltransferase, long chain base subunit 1 0.235964
POR P450 (cytochrome) oxidoreductase 0.224884
DECR1 2,4-dienoyl CoA reductase 1, mitochondrial 0.222479
KRT84 keratin 84, type II 0.222136
CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1 0.220424
ALPPL2 alkaline phosphatase, placental-like 2 0.220081
CYP2A6 cytochrome P450, family 2, subfamily A, polypeptide 6 0.220081
ALPP alkaline phosphatase, placental 0.21974
ALPL alkaline phosphatase, liver/bone/kidney 0.219398
GSR glutathione reductase 0.218374
CKAP5 cytoskeleton associated protein 5 0.204923
PTF1A pancreas specific transcription factor, 1a 0.198709
CDSN corneodesmosin 0.198064
CYP2A13 cytochrome P450, family 2, subfamily A, polypeptide 13 0.198064
P4HTM prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum) 0.197742
PEG3 paternally expressed 3 0.196139
GNRH1 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone) 0.188632
SERPINA7 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 0.175947
PRRC2A proline-rich coiled-coil 2A 0.175411
GSTA3 glutathione S-transferase alpha 3 0.171036
GSTA2 glutathione S-transferase alpha 2 0.170054
GSTA4 glutathione S-transferase alpha 4 0.16933
TMBIM4 transmembrane BAX inhibitor motif containing 4 0.168381
GSTA1 glutathione S-transferase alpha 1 0.165874
FOXN1 forkhead box N1 0.163111
DBI diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein) 0.162505
CP ceruloplasmin (ferroxidase) 0.161912
DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) 0.161716
STS steroid sulfatase (microsomal), isozyme S 0.139222
SEBOX SEBOX homeobox 0.135218
MAF v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog 0.13068
IMMT inner membrane protein, mitochondrial 0.128987
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) 0.126986
FANCM Fanconi anemia, complementation group M 0.125467
BLM Bloom syndrome, RecQ helicase-like 0.125386
UCP3 uncoupling protein 3 (mitochondrial, proton carrier) 0.124883
CFL1 cofilin 1 (non-muscle) 0.124667
SIRT3 sirtuin 3 0.12387
TXNRD1 thioredoxin reductase 1 0.123689
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase 0.12272
CS citrate synthase 0.122278
NGB neuroglobin 0.121594
EREG epiregulin 0.120288
GBE1 glucan (1,4-alpha-), branching enzyme 1 0.120288
AKR1C2 aldo-keto reductase family 1, member C2 0.119758
MED28 mediator complex subunit 28 0.119502
JMJD6 jumonji domain containing 6 0.119303
NFE2 nuclear factor, erythroid 2 0.118775
NLE1 notchless homolog 1 (Drosophila) 0.117058
BTC betacellulin 0.115036
S100A6 S100 calcium binding protein A6 0.113442
MLN motilin 0.113223
IFNA1 interferon, alpha 1 0.112931
EMP1 epithelial membrane protein 1 0.111371
SHH sonic hedgehog 0.111177
SLC10A1 solute carrier family 10 (sodium/bile acid cotransporter), member 1 0.109694
APOC2 apolipoprotein C-II 0.10912
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta 0.108699
EPO erythropoietin 0.108023
ACTA1 actin, alpha 1, skeletal muscle 0.107633
CPN1 carboxypeptidase N, polypeptide 1 0.107546
TYR tyrosinase 0.106537
APCS amyloid P component, serum 0.105548
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator 0.105456
RNASEH2A ribonuclease H2, subunit A 0.105365
HBG2 hemoglobin, gamma G 0.104908
GAP43 growth associated protein 43 0.103786
CYB5A cytochrome b5 type A (microsomal) 0.103549
CA8 carbonic anhydrase VIII 0.103164
GOT1 glutamic-oxaloacetic transaminase 1, soluble 0.101901