propionic acidemia Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores
Category disease or phenotype associations
Type disease
Description An organic acidemia that involes a nonfunctional propionyl CoA carboxylase affecting conversion of aminio acids and fats into sugar for energy. (Human Disease Ontology, DOID_14701)
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Genes

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

Symbol Name Standardized Value
PCCB propionyl CoA carboxylase, beta polypeptide 3.46554
PCCA propionyl CoA carboxylase, alpha polypeptide 3.01858
MMD monocyte to macrophage differentiation-associated 2.14532
HMGCL 3-hydroxymethyl-3-methylglutaryl-CoA lyase 1.61441
MUT methylmalonyl CoA mutase 1.5769
UPB1 ureidopropionase, beta 1.08957
PC pyruvate carboxylase 1.08202
OTC ornithine carbamoyltransferase 1.05513
BCKDK branched chain ketoacid dehydrogenase kinase 0.968341
CRAT carnitine O-acetyltransferase 0.965405
ASL argininosuccinate lyase 0.931656
SRSF5 serine/arginine-rich splicing factor 5 0.797052
LRRC4C leucine rich repeat containing 4C 0.754934
MMAB methylmalonic aciduria (cobalamin deficiency) cblB type 0.737865
ASS1 argininosuccinate synthase 1 0.733406
DPYS dihydropyrimidinase 0.728952
GLDC glycine dehydrogenase (decarboxylating) 0.711587
NAGS N-acetylglutamate synthase 0.707559
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria 0.631991
CSPG5 chondroitin sulfate proteoglycan 5 (neuroglycan C) 0.629242
SCO2 SCO2 cytochrome c oxidase assembly protein 0.605372
DLD dihydrolipoamide dehydrogenase 0.597181
MMAA methylmalonic aciduria (cobalamin deficiency) cblA type 0.58939
ACADVL acyl-CoA dehydrogenase, very long chain 0.558285
ACADS acyl-CoA dehydrogenase, C-2 to C-3 short chain 0.547032
HLCS holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) 0.529608
NEFM neurofilament, medium polypeptide 0.445052
ACO2 aconitase 2, mitochondrial 0.427765
TCN2 transcobalamin II 0.349717
OGDH oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) 0.337975
APRT adenine phosphoribosyltransferase 0.332487
IVD isovaleryl-CoA dehydrogenase 0.317545
CS citrate synthase 0.309928
CKM creatine kinase, muscle 0.297291
PTS 6-pyruvoyltetrahydropterin synthase 0.294772
HPX hemopexin 0.275445
MDH2 malate dehydrogenase 2, NAD (mitochondrial) 0.272241
AGXT alanine-glyoxylate aminotransferase 0.269753
MDH1 malate dehydrogenase 1, NAD (soluble) 0.258417
FOXL2 forkhead box L2 0.251015
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase 0.235616
DDC dopa decarboxylase (aromatic L-amino acid decarboxylase) 0.224884
ARSH arylsulfatase family, member H 0.209583
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial 0.205254
SP1 Sp1 transcription factor 0.173314
GLUL glutamate-ammonia ligase 0.158778