pseudoxanthoma elasticum Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores
Category disease or phenotype associations
Type disease
Description An autosomal recessive disease characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system. (Human Disease Ontology, DOID_2738)
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Genes

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

Symbol Name Standardized Value
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6 4.16194
GGCX gamma-glutamyl carboxylase 2.08267
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 1.54937
ABCA17P ATP-binding cassette, sub-family A (ABC1), member 17, pseudogene 1.4465
ABCC1 ATP-binding cassette, sub-family C (CFTR/MRP), member 1 1.42718
MGP matrix Gla protein 1.4149
XYLT1 xylosyltransferase I 1.23082
MRPS7 mitochondrial ribosomal protein S7 1.10468
XYLT2 xylosyltransferase II 1.09923
VKORC1 vitamin K epoxide reductase complex, subunit 1 1.09671
ABCC12 ATP-binding cassette, sub-family C (CFTR/MRP), member 12 1.09545
ABCA9 ATP-binding cassette, sub-family A (ABC1), member 9 1.05976
ABCC11 ATP-binding cassette, sub-family C (CFTR/MRP), member 11 1.05051
ABCA10 ATP-binding cassette, sub-family A (ABC1), member 10 1.03788
ABCA6 ATP-binding cassette, sub-family A (ABC1), member 6 1.03493
MFAP2 microfibrillar-associated protein 2 1.01723
ABCC3 ATP-binding cassette, sub-family C (CFTR/MRP), member 3 0.983057
SAMD9L sterile alpha motif domain containing 9-like 0.97002
ELN elastin 0.942027
ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2 0.938704
SEBOX SEBOX homeobox 0.901567
AHSG alpha-2-HS-glycoprotein 0.881062
FBN1 fibrillin 1 0.833968
ANKH ANKH inorganic pyrophosphate transport regulator 0.760231
IBSP integrin-binding sialoprotein 0.751271
ABCC4 ATP-binding cassette, sub-family C (CFTR/MRP), member 4 0.736243
SAMD9 sterile alpha motif domain containing 9 0.703938
TREX1 three prime repair exonuclease 1 0.701124
UNK unkempt family zinc finger 0.59913
ENTPD5 ectonucleoside triphosphate diphosphohydrolase 5 0.564889
SLC20A2 solute carrier family 20 (phosphate transporter), member 2 0.542767
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9 0.535796
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12 0.528449
ABCB5 ATP-binding cassette, sub-family B (MDR/TAP), member 5 0.522659
ABCC5 ATP-binding cassette, sub-family C (CFTR/MRP), member 5 0.513033
LTBP1 latent transforming growth factor beta binding protein 1 0.509192
GATA1 GATA binding protein 1 (globin transcription factor 1) 0.508424
PPA1 pyrophosphatase (inorganic) 1 0.497703
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 0.497321
LAX1 lymphocyte transmembrane adaptor 1 0.490072
IGKV3-20 immunoglobulin kappa variable 3-20 0.487027
GDF2 growth differentiation factor 2 0.486646
NT5E 5'-nucleotidase, ecto (CD73) 0.485505
MGAM maltase-glucoamylase 0.485505
ALYREF Aly/REF export factor 0.476772
HRC histidine rich calcium binding protein 0.471089
CDSN corneodesmosin 0.466172
TACSTD2 tumor-associated calcium signal transducer 2 0.456355
MANBA mannosidase, beta A, lysosomal 0.440914
BGN biglycan 0.42364
PLAGL1 pleiomorphic adenoma gene-like 1 0.414276
SPP1 secreted phosphoprotein 1 0.412031
ALPL alkaline phosphatase, liver/bone/kidney 0.408292
FBLN5 fibulin 5 0.36704
FN1 fibronectin 1 0.351923
ACVR1 activin A receptor, type I 0.345308
PCSK9 proprotein convertase subtilisin/kexin type 9 0.339806
PLAG1 pleiomorphic adenoma gene 1 0.335412
DCN decorin 0.32373
NFE2 nuclear factor, erythroid 2 0.310652
ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3 0.293694
FZD4 frizzled class receptor 4 0.287235
UROS uroporphyrinogen III synthase 0.263722
ATP7A ATPase, Cu++ transporting, alpha polypeptide 0.254183
CEBPB CCAAT/enhancer binding protein (C/EBP), beta 0.245396
RUNX2 runt-related transcription factor 2 0.238403
CLEC2A C-type lectin domain family 2, member A 0.23353
LOX lysyl oxidase 0.22454
HBB hemoglobin, beta 0.217012
HNF4A hepatocyte nuclear factor 4, alpha 0.208914
ALPPL2 alkaline phosphatase, placental-like 2 0.207912
ALPP alkaline phosphatase, placental 0.207578
MMP2 matrix metallopeptidase 2 0.20229
MSX2 msh homeobox 2 0.198386
FGF21 fibroblast growth factor 21 0.197099
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 0.194865
SOD3 superoxide dismutase 3, extracellular 0.194232
CLEC3A C-type lectin domain family 3, member A 0.18621
CLEC2B C-type lectin domain family 2, member B 0.182086
FBN2 fibrillin 2 0.16933
CLEC10A C-type lectin domain family 10, member A 0.166095
MMP9 matrix metallopeptidase 9 0.160761