methylmalonic acidemia Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores
Category disease or phenotype associations
Type disease
Description An organic acidemia that involves an accumulation of methylmalonic acid in the blood. (Human Disease Ontology, DOID_14749)
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Genes

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

Symbol Name Standardized Value
MUT methylmalonyl CoA mutase 3.20743
MMD monocyte to macrophage differentiation-associated 3.124
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria 2.65758
MMAA methylmalonic aciduria (cobalamin deficiency) cblA type 2.5761
MMAB methylmalonic aciduria (cobalamin deficiency) cblB type 2.31845
MMADHC methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria 2.07945
MCEE methylmalonyl CoA epimerase 1.76185
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit 1.74915
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase 1.70042
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase 1.6543
SUCLG1 succinate-CoA ligase, alpha subunit 1.56311
ACSF3 acyl-CoA synthetase family member 3 1.46891
HMGCL 3-hydroxymethyl-3-methylglutaryl-CoA lyase 1.34461
CLEC3A C-type lectin domain family 3, member A 1.28435
CLEC2B C-type lectin domain family 2, member B 1.27868
CLEC10A C-type lectin domain family 10, member A 1.25167
TCN2 transcobalamin II 1.16093
ALDH6A1 aldehyde dehydrogenase 6 family, member A1 1.14433
CD320 CD320 molecule 1.07236
ABCD4 ATP-binding cassette, sub-family D (ALD), member 4 1.04335
KCTD10 potassium channel tetramerization domain containing 10 1.02144
OTC ornithine carbamoyltransferase 0.923387
PC pyruvate carboxylase 0.836427
UPB1 ureidopropionase, beta 0.834378
MVK mevalonate kinase 0.794181
PCCB propionyl CoA carboxylase, beta polypeptide 0.788442
MLYCD malonyl-CoA decarboxylase 0.776568
UBE3B ubiquitin protein ligase E3B 0.766759
GIF gastric intrinsic factor (vitamin B synthesis) 0.736243
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase 0.699919
MTHFR methylenetetrahydrofolate reductase (NAD(P)H) 0.664769
DCAF17 DDB1 and CUL4 associated factor 17 0.643797
TMEM70 transmembrane protein 70 0.583941
TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast) 0.562169
HCFC1 host cell factor C1 0.561781
PCCA propionyl CoA carboxylase, alpha polypeptide 0.55945
SRSF5 serine/arginine-rich splicing factor 5 0.552851
NAGS N-acetylglutamate synthase 0.502292
DPYS dihydropyrimidinase 0.488549
SPR sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase) 0.462772
ACACB acetyl-CoA carboxylase beta 0.458996
KLHL2 kelch-like family member 2 0.448441
ACLY ATP citrate lyase 0.44129
ACP2 acid phosphatase 2, lysosomal 0.420266
CSPG5 chondroitin sulfate proteoglycan 5 (neuroglycan C) 0.394491
BLVRB biliverdin reductase B 0.363347
CRAT carnitine O-acetyltransferase 0.346042
SAMHD1 SAM domain and HD domain 1 0.334681
ARSH arylsulfatase family, member H 0.331391
ACADVL acyl-CoA dehydrogenase, very long chain 0.327375
NADK NAD kinase 0.323002
ACADS acyl-CoA dehydrogenase, C-2 to C-3 short chain 0.316819
SLC22A8 solute carrier family 22 (organic anion transporter), member 8 0.311377
ASL argininosuccinate lyase 0.300173
TCN1 transcobalamin I (vitamin B12 binding protein, R binder family) 0.268687
GZMM granzyme M (lymphocyte met-ase 1) 0.239799
SLCO1B3 solute carrier organic anion transporter family, member 1B3 0.239799
AKAP13 A kinase (PRKA) anchor protein 13 0.238054
FADS1 fatty acid desaturase 1 0.235616
ASPN asporin 0.232142
SETD2 SET domain containing 2 0.231448
FES FES proto-oncogene, tyrosine kinase 0.223165
CUBN cubilin (intrinsic factor-cobalamin receptor) 0.222479
SUCLG2 succinate-CoA ligase, GDP-forming, beta subunit 0.218034
HADH hydroxyacyl-CoA dehydrogenase 0.206913
NEFM neurofilament, medium polypeptide 0.192657
DACH1 dachshund family transcription factor 1 0.192031
PEPD peptidase D 0.18621
LIPC lipase, hepatic 0.170544
FABP3 fatty acid binding protein 3, muscle and heart 0.167338
CD46 CD46 molecule, complement regulatory protein 0.156339
ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 0.144213