porphyria Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins. (Human Disease Ontology, DOID_13268)
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Genes

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

Symbol Name Standardized Value
HMBS hydroxymethylbilane synthase 3.46466
FECH ferrochelatase 3.29844
UROD uroporphyrinogen decarboxylase 3.24549
PPOX protoporphyrinogen oxidase 2.86666
CPOX coproporphyrinogen oxidase 2.76109
UROS uroporphyrinogen III synthase 2.44653
ALAS1 5'-aminolevulinate synthase 1 2.17232
ALAD aminolevulinate dehydratase 2.00148
HFE hemochromatosis 1.93468
ALAS2 5'-aminolevulinate synthase 2 1.84408
FTH1 ferritin, heavy polypeptide 1 1.41972
FTL ferritin, light polypeptide 1.4092
CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2 1.25994
HPX hemopexin 1.08663
TF transferrin 1.0816
DHX8 DEAH (Asp-Glu-Ala-His) box polypeptide 8 1.04125
AVP arginine vasopressin 0.96918
CYP2B6 cytochrome P450, family 2, subfamily B, polypeptide 6 0.938704
TDO2 tryptophan 2,3-dioxygenase 0.919673
CAT catalase 0.877376
SULT2B1 sulfotransferase family, cytosolic, 2B, member 1 0.856497
SLC25A37 solute carrier family 25 (mitochondrial iron transporter), member 37 0.849126
HAMP hepcidin antimicrobial peptide 0.790492
SOD2 superoxide dismutase 2, mitochondrial 0.740705
HFE2 hemochromatosis type 2 (juvenile) 0.612401
NPRL3 nitrogen permease regulator-like 3 (S. cerevisiae) 0.604591
ALB albumin 0.588612
CFAP20 cilia and flagella associated protein 20 0.58433
ABCB10 ATP-binding cassette, sub-family B (MDR/TAP), member 10 0.58005
TFR2 transferrin receptor 2 0.575383
TST thiosulfate sulfurtransferase (rhodanese) 0.556344
SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1 0.553627
INTS8 integrator complex subunit 8 0.538893
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase) 0.521502
PATZ1 POZ (BTB) and AT hook containing zinc finger 1 0.521502
INSC inscuteable homolog (Drosophila) 0.519961
EIF2AK1 eukaryotic translation initiation factor 2-alpha kinase 1 0.498849
CTRB1 chymotrypsinogen B1 0.498085
CNDP2 CNDP dipeptidase 2 (metallopeptidase M20 family) 0.469576
GCOM1 GRINL1A complex locus 1 0.443923
PC pyruvate carboxylase 0.443923
PRAMEF9 PRAME family member 9 0.431894
PPIG peptidylprolyl isomerase G (cyclophilin G) 0.429266
PROC protein C (inactivator of coagulation factors Va and VIIIa) 0.409787
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit 0.404931
PUS1 pseudouridylate synthase 1 0.387423
CD79A CD79a molecule, immunoglobulin-associated alpha 0.384451
CYBRD1 cytochrome b reductase 1 0.379256
TFRC transferrin receptor 0.379256
NOL9 nucleolar protein 9 0.365193
HMOX1 heme oxygenase 1 0.355604
GRIP1 glutamate receptor interacting protein 1 0.353763
HP haptoglobin 0.345308
ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4 0.339806
HPR haptoglobin-related protein 0.33944
VPS11 vacuolar protein sorting 11 homolog (S. cerevisiae) 0.32993
KIR2DL3 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 0.32993
IFNE interferon, epsilon 0.320817
EIF2S1 eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa 0.312102
KYNU kynureninase 0.297291
ACOT1 acyl-CoA thioesterase 1 0.297291
KIR2DL1 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 0.295492
ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group) 0.284728
CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1 0.284013
POMC proopiomelanocortin 0.280796
UGP2 UDP-glucose pyrophosphorylase 2 0.279724
GPX5 glutathione peroxidase 5 0.27794
GPX4 glutathione peroxidase 4 0.274732
NARS asparaginyl-tRNA synthetase 0.27153
TMPRSS13 transmembrane protease, serine 13 0.270108
CHRD chordin 0.267977
IREB2 iron-responsive element binding protein 2 0.26514
ABCB7 ATP-binding cassette, sub-family B (MDR/TAP), member 7 0.263368
GPX1 glutathione peroxidase 1 0.260538
ATP6AP1 ATPase, H+ transporting, lysosomal accessory protein 1 0.259124
ASMT acetylserotonin O-methyltransferase 0.248203
SPTLC1 serine palmitoyltransferase, long chain base subunit 1 0.23492
POR P450 (cytochrome) oxidoreductase 0.223853
DECR1 2,4-dienoyl CoA reductase 1, mitochondrial 0.22145
KRT84 keratin 84, type II 0.221108
CYP2A6 cytochrome P450, family 2, subfamily A, polypeptide 6 0.219057
ALPPL2 alkaline phosphatase, placental-like 2 0.219057
CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1 0.219057
ALPP alkaline phosphatase, placental 0.218715
ALPL alkaline phosphatase, liver/bone/kidney 0.218374
GSR glutathione reductase 0.217352
CKAP5 cytoskeleton associated protein 5 0.203933
PTF1A pancreas specific transcription factor, 1a 0.19742
CDSN corneodesmosin 0.197099
CYP2A13 cytochrome P450, family 2, subfamily A, polypeptide 13 0.197099
P4HTM prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum) 0.196779
PEG3 paternally expressed 3 0.195183
GNRH1 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone) 0.187415
SERPINA7 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 0.175146
PRRC2A proline-rich coiled-coil 2A 0.174617
GSTA3 glutathione S-transferase alpha 3 0.170299
GSTA2 glutathione S-transferase alpha 2 0.16933
GSTA4 glutathione S-transferase alpha 4 0.168617
TMBIM4 transmembrane BAX inhibitor motif containing 4 0.167682
GSTA1 glutathione S-transferase alpha 1 0.165217
FOXN1 forkhead box N1 0.162505
DBI diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein) 0.161912
DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) 0.161139
CP ceruloplasmin (ferroxidase) 0.161139
STS steroid sulfatase (microsomal), isozyme S 0.134729
SEBOX SEBOX homeobox 0.128903
MAF v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog 0.122358
IMMT inner membrane protein, mitochondrial 0.120007
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) 0.117303
FANCM Fanconi anemia, complementation group M 0.115314
BLM Bloom syndrome, RecQ helicase-like 0.115208
UCP3 uncoupling protein 3 (mitochondrial, proton carrier) 0.114563
CFL1 cofilin 1 (non-muscle) 0.114287
SIRT3 sirtuin 3 0.11328
TXNRD1 thioredoxin reductase 1 0.113053
GSTTP1 glutathione S-transferase theta pseudogene 1 0.112325
GSTT1 glutathione S-transferase theta 1 0.112325
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase 0.111853
CS citrate synthase 0.11131
NGB neuroglobin 0.11048
EREG epiregulin 0.108924
GBE1 glucan (1,4-alpha-), branching enzyme 1 0.108924
AKR1C2 aldo-keto reductase family 1, member C2 0.1083
MED28 mediator complex subunit 28 0.108004
JMJD6 jumonji domain containing 6 0.107768
NFE2 nuclear factor, erythroid 2 0.107161
GSTM1 glutathione S-transferase mu 1 0.105988
NLE1 notchless homolog 1 (Drosophila) 0.105207
BTC betacellulin 0.102977
S100A6 S100 calcium binding protein A6 0.101266
MLN motilin 0.101031
IFNA1 interferon, alpha 1 0.100717
EMP1 epithelial membrane protein 1 0.099089
SHH sonic hedgehog 0.098889
SLC10A1 solute carrier family 10 (sodium/bile acid cotransporter), member 1 0.097372
APOC2 apolipoprotein C-II 0.096786
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta 0.096367
EPO erythropoietin 0.095687
ACTA1 actin, alpha 1, skeletal muscle 0.095303
CPN1 carboxypeptidase N, polypeptide 1 0.095218
TYR tyrosinase 0.094223
APCS amyloid P component, serum 0.093261
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator 0.093173
RNASEH2A ribonuclease H2, subunit A 0.093084
HBG2 hemoglobin, gamma G 0.09264
GAP43 growth associated protein 43 0.091566
CYB5A cytochrome b5 type A (microsomal) 0.09134
CA8 carbonic anhydrase VIII 0.090979
GOT1 glutamic-oxaloacetic transaminase 1, soluble 0.08979