Citrullinemia Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores 2025
Category disease or phenotype associations
Type disease
Description An urea cycle disorder that involves the accumulation of ammonia in the blood. (Human Disease Ontology, DOID_9273)
Similar Terms
Downloads & Tools

Genes

193 genes co-occuring with the disease Citrullinemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Symbol Name Standardized Value
SLC25A13 solute carrier family 25 (aspartate/glutamate carrier), member 13 4.0
ASS1 argininosuccinate synthase 1 3.426
SLC25A12 solute carrier family 25 (aspartate/glutamate carrier), member 12 2.833
NAGS N-acetylglutamate synthase 2.764
OTC ornithine carbamoyltransferase 2.743
ASL argininosuccinate lyase 2.679
SLC25A15 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 2.669
CPS1 carbamoyl-phosphate synthase 1, mitochondrial 2.466
HMGCL 3-hydroxymethyl-3-methylglutaryl-CoA lyase 2.436
ACAD8 acyl-CoA dehydrogenase family, member 8 2.179
ARG1 arginase 1 2.094
ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11 2.08
ATP8B1 ATPase, aminophospholipid transporter, class I, type 8B, member 1 2.079
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit 2.06
ACADVL acyl-CoA dehydrogenase, very long chain 2.059
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria 2.049
SLC25A2 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2 2.028
MAT1A methionine adenosyltransferase I, alpha 2.002
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase) 1.978
BCKDHB branched chain keto acid dehydrogenase E1, beta polypeptide 1.965
GCDH glutaryl-CoA dehydrogenase 1.955
SLC22A5 solute carrier family 22 (organic cation/carnitine transporter), member 5 1.945
PAH phenylalanine hydroxylase 1.942
ARG2 arginase 2 1.93
HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 1.92
ACADM acyl-CoA dehydrogenase, C-4 to C-12 straight chain 1.867
OAT ornithine aminotransferase 1.863
ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4 1.853
PC pyruvate carboxylase 1.847
SLC25A16 solute carrier family 25 (mitochondrial carrier), member 16 1.836
CPT2 carnitine palmitoyltransferase 2 1.821
SLC25A22 solute carrier family 25 (mitochondrial carrier: glutamate), member 22 1.814
SPINK1 serine peptidase inhibitor, Kazal type 1 1.805
AFP alpha-fetoprotein 1.803
DGUOK deoxyguanosine kinase 1.802
PCCB propionyl CoA carboxylase, beta polypeptide 1.778
MPV17 MpV17 mitochondrial inner membrane protein 1.766
GPT glutamic-pyruvate transaminase (alanine aminotransferase) 1.764
SLC25A37 solute carrier family 25 (mitochondrial iron transporter), member 37 1.74
USP53 ubiquitin specific peptidase 53 1.736
ACADS acyl-CoA dehydrogenase, C-2 to C-3 short chain 1.733
AKR1D1 aldo-keto reductase family 1, member D1 1.726
TJP2 tight junction protein 2 1.713
GALT galactose-1-phosphate uridylyltransferase 1.711
MYO5B myosin VB 1.709
GNMT glycine N-methyltransferase 1.708
SLC25A11 solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11 1.702
HLCS holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) 1.7
SLC25A10 solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10 1.696
AHCY adenosylhomocysteinase 1.691
SLC25A20 solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 1.685
GALK1 galactokinase 1 1.684
MCCC1 methylcrotonoyl-CoA carboxylase 1 (alpha) 1.672
JAG1 jagged 1 1.651
SLC25A24 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24 1.65
BCKDHA branched chain keto acid dehydrogenase E1, alpha polypeptide 1.642
PCCA propionyl CoA carboxylase, alpha polypeptide 1.637
SLC25A53 solute carrier family 25, member 53 1.631
GATM glycine amidinotransferase (L-arginine:glycine amidinotransferase) 1.626
MCCC2 methylcrotonoyl-CoA carboxylase 2 (beta) 1.621
GPD2 glycerol-3-phosphate dehydrogenase 2 (mitochondrial) 1.619
SLC7A7 solute carrier family 7 (amino acid transporter light chain, y+L system), member 7 1.599
SLC25A51 solute carrier family 25, member 51 1.599
SLC25A3 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3 1.597
ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2 1.576
ATP7B ATPase, Cu++ transporting, beta polypeptide 1.575
CA5A carbonic anhydrase VA, mitochondrial 1.572
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 1.564
DCDC2 doublecortin domain containing 2 1.539
PPARA peroxisome proliferator-activated receptor alpha 1.539
SLC10A1 solute carrier family 10 (sodium/bile acid cotransporter), member 1 1.536
KIF12 kinesin family member 12 1.51
GALE UDP-galactose-4-epimerase 1.508
SLC25A23 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23 1.507
QDPR quinoid dihydropteridine reductase 1.507
TYR tyrosinase 1.496
ADSL adenylosuccinate lyase 1.491
HADH hydroxyacyl-CoA dehydrogenase 1.489
NPC1 Niemann-Pick disease, type C1 1.487
MTHFR methylenetetrahydrofolate reductase (NAD(P)H) 1.481
MMUT methylmalonyl-CoA mutase 1.476
MDH2 malate dehydrogenase 2, NAD (mitochondrial) 1.469
ALB albumin 1.451
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 1.451
VPS33B vacuolar protein sorting 33 homolog B (yeast) 1.424
ACADSB acyl-CoA dehydrogenase, short/branched chain 1.419
NOTCH2 notch 2 1.411
GPD1 glycerol-3-phosphate dehydrogenase 1 (soluble) 1.407
SLC25A26 solute carrier family 25 (S-adenosylmethionine carrier), member 26 1.38
NPC2 Niemann-Pick disease, type C2 1.367
NR1H4 nuclear receptor subfamily 1, group H, member 4 1.362
MMADHC methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria 1.356
SLC25A52 solute carrier family 25, member 52 1.352
SLC25A38 solute carrier family 25, member 38 1.351
PCBD1 pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha 1.349
MPI mannose phosphate isomerase 1.347
SLC25A40 solute carrier family 25, member 40 1.337
F2 coagulation factor II (thrombin) 1.331
SLC25A47 solute carrier family 25, member 47 1.321
ETFDH electron-transferring-flavoprotein dehydrogenase 1.319
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8 1.315
POLG polymerase (DNA directed), gamma 1.314
ADK adenosine kinase 1.312
ETFA electron-transfer-flavoprotein, alpha polypeptide 1.312
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4 1.309
SLC25A29 solute carrier family 25 (mitochondrial carnitine/acylcarnitine carrier), member 29 1.309
VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog 1.307
SLC10A2 solute carrier family 10 (sodium/bile acid cotransporter), member 2 1.307
SLC25A42 solute carrier family 25, member 42 1.303
SLC51B solute carrier family 51, beta subunit 1.293
SLC25A39 solute carrier family 25, member 39 1.283
SLC25A44 solute carrier family 25, member 44 1.279
SLC25A41 solute carrier family 25, member 41 1.274
SLC25A25 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25 1.267
DNAJC12 DnaJ (Hsp40) homolog, subfamily C, member 12 1.261
CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase 1.258
UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1 1.258
SLC25A1 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1 1.246
GJB2 gap junction protein, beta 2, 26kDa 1.244
AGXT2 alanine--glyoxylate aminotransferase 2 1.244
SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19 1.243
CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1 1.24
SLC25A35 solute carrier family 25, member 35 1.237
SLC25A32 solute carrier family 25 (mitochondrial folate carrier), member 32 1.236
SLC25A18 solute carrier family 25 (glutamate carrier), member 18 1.229
SLC25A21 solute carrier family 25 (mitochondrial oxoadipate carrier), member 21 1.226
GGTLC3 gamma-glutamyltransferase light chain 3 1.224
TPK1 thiamin pyrophosphokinase 1 1.22
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1 1.212
GAMT guanidinoacetate N-methyltransferase 1.211
SLCO1B3 solute carrier organic anion transporter family, member 1B3 1.21
UGT1A8 UDP glucuronosyltransferase 1 family, polypeptide A8 1.207
UGT1A10 UDP glucuronosyltransferase 1 family, polypeptide A10 1.204
L2HGDH L-2-hydroxyglutarate dehydrogenase 1.204
MMAA methylmalonic aciduria (cobalamin deficiency) cblA type 1.203
UGT1A7 UDP glucuronosyltransferase 1 family, polypeptide A7 1.201
SLC25A31 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31 1.2
UGT1A4 UDP glucuronosyltransferase 1 family, polypeptide A4 1.194
CBS cystathionine-beta-synthase 1.19
UGT1A6 UDP glucuronosyltransferase 1 family, polypeptide A6 1.18
TPP1 tripeptidyl peptidase I 1.173
PDHX pyruvate dehydrogenase complex, component X 1.163
BCAT2 branched chain amino-acid transaminase 2, mitochondrial 1.162
BAAT bile acid CoA:amino acid N-acyltransferase 1.159
SMAD9 SMAD family member 9 1.151
CP ceruloplasmin (ferroxidase) 1.149
SLC6A19 solute carrier family 6 (neutral amino acid transporter), member 19 1.148
NALCN sodium leak channel, non selective 1.142
ECHS1 enoyl CoA hydratase, short chain, 1, mitochondrial 1.138
TMEM165 transmembrane protein 165 1.131
SUOX sulfite oxidase 1.128
SLC7A2 solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 1.128
UMPS uridine monophosphate synthetase 1.128
TBCK TBC1 domain containing kinase 1.127
SLC25A34 solute carrier family 25, member 34 1.126
SMN2 survival of motor neuron 2, centromeric 1.12
SLC25A48 solute carrier family 25, member 48 1.117
SLC25A30 solute carrier family 25, member 30 1.109
DARS2 aspartyl-tRNA synthetase 2, mitochondrial 1.099
GGT1 gamma-glutamyltransferase 1 1.098
ALDH5A1 aldehyde dehydrogenase 5 family, member A1 1.096
TRMU tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase 1.095
CYP7A1 cytochrome P450, family 7, subfamily A, polypeptide 1 1.094
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 1.092
ABCD4 ATP-binding cassette, sub-family D (ALD), member 4 1.09
SMN1 survival of motor neuron 1, telomeric 1.088
INS insulin 1.084
BCKDK branched chain ketoacid dehydrogenase kinase 1.082
FARSA phenylalanyl-tRNA synthetase, alpha subunit 1.076
NUS1 nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae) 1.076
SLCO1B1 solute carrier organic anion transporter family, member 1B1 1.068
UNC80 unc-80 homolog (C. elegans) 1.062
ASPG asparaginase 1.056
TMEM70 transmembrane protein 70 1.055
GLUD1 glutamate dehydrogenase 1 1.047
UPB1 ureidopropionase, beta 1.044
IDS iduronate 2-sulfatase 1.039
SLC25A14 solute carrier family 25 (mitochondrial carrier, brain), member 14 1.035
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1 1.031
MPZL2 myelin protein zero-like 2 1.029
SLC25A43 solute carrier family 25, member 43 1.029
TTR transthyretin 1.028
CS citrate synthase 1.027
GALM galactose mutarotase (aldose 1-epimerase) 1.026
NT5C3A 5'-nucleotidase, cytosolic IIIA 1.022
AZIN2 antizyme inhibitor 2 1.014
TBC1D24 TBC1 domain family, member 24 1.013
MLYCD malonyl-CoA decarboxylase 1.013
SLC25A45 solute carrier family 25, member 45 1.012
NADK2 NAD kinase 2, mitochondrial 1.008
ATP11C ATPase, class VI, type 11C 1.001
PDP2 pyruvate dehyrogenase phosphatase catalytic subunit 2 1.0
IVD isovaleryl-CoA dehydrogenase 1.0