mevalonic aciduria Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores
Category disease or phenotype associations
Type disease
Description OMIM mapping confirmed by DO. [SN]. (Human Disease Ontology, DOID_0050452)
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Genes

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

Symbol Name Standardized Value
MVK mevalonate kinase 3.443
IL1RN interleukin 1 receptor antagonist 1.38123
RAB28 RAB28, member RAS oncogene family 1.09839
NLRP12 NLR family, pyrin domain containing 12 1.05471
CARD17 caspase recruitment domain family, member 17 0.988535
MSMO1 methylsterol monooxygenase 1 0.986428
HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase 0.950769
CARD14 caspase recruitment domain family, member 14 0.933313
EBP emopamil binding protein (sterol isomerase) 0.919673
RAC3 ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3) 0.904442
RAC1 ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) 0.898282
PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta 0.834378
IL1B interleukin 1, beta 0.825768
PAPSS1 3'-phosphoadenosine 5'-phosphosulfate synthase 1 0.788442
NLRP3 NLR family, pyrin domain containing 3 0.783116
FDFT1 farnesyl-diphosphate farnesyltransferase 1 0.711183
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A 0.691495
DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) 0.67113
MEFV Mediterranean fever 0.654463
PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 0.632777
AIPL1 aryl hydrocarbon receptor interacting protein-like 1 0.582773
SEC23B Sec23 homolog B (S. cerevisiae) 0.542767
GCDH glutaryl-CoA dehydrogenase 0.526132
GALK1 galactokinase 1 0.506507
CHM choroideremia (Rab escort protein 1) 0.437154
NOD2 nucleotide-binding oligomerization domain containing 2 0.409414
ATG7 autophagy related 7 0.389281
HMGA1 high mobility group AT-hook 1 0.382594
VIMP VCP-interacting membrane selenoprotein 0.364824
SAA2 serum amyloid A2 0.353763
RPGR retinitis pigmentosa GTPase regulator 0.345675
HSD3B1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 0.28831
DDC dopa decarboxylase (aromatic L-amino acid decarboxylase) 0.275801
PAH phenylalanine hydroxylase 0.227297