Homocystinuria Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores 2025
Category disease or phenotype associations
Type disease
Description An amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine. (Human Disease Ontology, DOID_9263)
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Genes

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

Symbol Name Standardized Value
CBS cystathionine-beta-synthase 3.846
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria 3.629
MMADHC methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria 3.425
MTHFR methylenetetrahydrofolate reductase (NAD(P)H) 3.321
LMBRD1 LMBR1 domain containing 1 3.268
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase 3.25
MMAA methylmalonic aciduria (cobalamin deficiency) cblA type 3.053
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase 3.038
CTH cystathionine gamma-lyase 2.866
BHMT betaine--homocysteine S-methyltransferase 2.793
MAT1A methionine adenosyltransferase I, alpha 2.757
ABCD4 ATP-binding cassette, sub-family D (ALD), member 4 2.631
MMUT methylmalonyl-CoA mutase 2.521
AHCY adenosylhomocysteinase 2.501
MMAB methylmalonic aciduria (cobalamin deficiency) cblB type 2.482
MPST mercaptopyruvate sulfurtransferase 2.462
CD320 CD320 molecule 2.414
GNMT glycine N-methyltransferase 2.312
FBN1 fibrillin 1 2.259
SUOX sulfite oxidase 2.193
ADAMTSL4 ADAMTS-like 4 2.163
TCN2 transcobalamin II 2.153
DGKE diacylglycerol kinase, epsilon 64kDa 2.129
MCEE methylmalonyl CoA epimerase 2.098
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase 2.093
HMGCL 3-hydroxymethyl-3-methylglutaryl-CoA lyase 2.044
TCN1 transcobalamin I (vitamin B12 binding protein, R binder family) 2.007
PAH phenylalanine hydroxylase 2.006
SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1 1.943
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit 1.935
PCCA propionyl CoA carboxylase, alpha polypeptide 1.935
THAP11 THAP domain containing 11 1.934
PCCB propionyl CoA carboxylase, beta polypeptide 1.895
ADSL adenylosuccinate lyase 1.881
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10 1.867
MSRB2 methionine sulfoxide reductase B2 1.862
ACADVL acyl-CoA dehydrogenase, very long chain 1.823
MARS2 methionyl-tRNA synthetase 2, mitochondrial 1.801
ACAD8 acyl-CoA dehydrogenase family, member 8 1.796
MARS1 methionyl-tRNA synthetase 1 1.795
GAMT guanidinoacetate N-methyltransferase 1.771
MTHFD1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase 1.763
SQOR sulfide quinone oxidoreductase 1.743
CDO1 cysteine dioxygenase type 1 1.727
GCDH glutaryl-CoA dehydrogenase 1.723
THBD thrombomodulin 1.711
ETHE1 ethylmalonic encephalopathy 1 1.687
LTBP2 latent transforming growth factor beta binding protein 2 1.687
OTC ornithine carbamoyltransferase 1.664
QDPR quinoid dihydropteridine reductase 1.653
F2 coagulation factor II (thrombin) 1.627
PEMT phosphatidylethanolamine N-methyltransferase 1.615
HADH hydroxyacyl-CoA dehydrogenase 1.615
ADK adenosine kinase 1.612
MAT2A methionine adenosyltransferase II, alpha 1.612
CSAD cysteine sulfinic acid decarboxylase 1.61
AMN amnion associated transmembrane protein 1.601
ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif, 17 1.599
CFH complement factor H 1.583
ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 1.58
DHFR dihydrofolate reductase 1.575
OAT ornithine aminotransferase 1.557
CFHR1 complement factor H-related 1 1.557
CPT2 carnitine palmitoyltransferase 2 1.557
CHDH choline dehydrogenase 1.556
CFHR3 complement factor H-related 3 1.553
SLC25A13 solute carrier family 25 (aspartate/glutamate carrier), member 13 1.547
CUBN cubilin (intrinsic factor-cobalamin receptor) 1.535
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase) 1.534
CD46 CD46 molecule, complement regulatory protein 1.52
AHCYL2 adenosylhomocysteinase-like 2 1.52
DHFR2 dihydrofolate reductase 2 1.52
CFB complement factor B 1.51
CPS1 carbamoyl-phosphate synthase 1, mitochondrial 1.509
CDCP2 CUB domain containing protein 2 1.504
NAGS N-acetylglutamate synthase 1.504
ACADM acyl-CoA dehydrogenase, C-4 to C-12 straight chain 1.502
INF2 inverted formin, FH2 and WH2 domain containing 1.499
LTBP3 latent transforming growth factor beta binding protein 3 1.496
TYR tyrosinase 1.494
BCKDHB branched chain keto acid dehydrogenase E1, beta polypeptide 1.489
PLG plasminogen 1.48
TST thiosulfate sulfurtransferase (rhodanese) 1.467
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8 1.467
LMBR1L limb development membrane protein 1-like 1.466
ETFDH electron-transferring-flavoprotein dehydrogenase 1.465
CBLIF cobalamin binding intrinsic factor 1.458
TXN thioredoxin 1.441
NDUFV3 NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa 1.433
PRDX1 peroxiredoxin 1 1.433
ALB albumin 1.423
BCKDHA branched chain keto acid dehydrogenase E1, alpha polypeptide 1.418
APOE apolipoprotein E 1.418
ELN elastin 1.417
SHMT1 serine hydroxymethyltransferase 1 (soluble) 1.415
SLC7A7 solute carrier family 7 (amino acid transporter light chain, y+L system), member 7 1.41
MTHFS 5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase) 1.406
CCDC163 CCDC163 homolog 1.402
MOCS1 molybdenum cofactor synthesis 1 1.398
SLC22A5 solute carrier family 22 (organic cation/carnitine transporter), member 5 1.379
GALC galactosylceramidase 1.378
PON1 paraoxonase 1 1.377
F3 coagulation factor III (thromboplastin, tissue factor) 1.377
CFI complement factor I 1.373
VWF von Willebrand factor 1.37
NOS3 nitric oxide synthase 3 (endothelial cell) 1.366
GPX3 glutathione peroxidase 3 1.364
ZNF143 zinc finger protein 143 1.355
MAT2B methionine adenosyltransferase II, beta 1.355
PDE9A phosphodiesterase 9A 1.33
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10 1.327
AHCYL1 adenosylhomocysteinase-like 1 1.324
P3H2 prolyl 3-hydroxylase 2 1.324
PLAT plasminogen activator, tissue 1.315
DAO D-amino-acid oxidase 1.314
BTD biotinidase 1.314
GPX7 glutathione peroxidase 7 1.31
GLA galactosidase, alpha 1.309
GPX6 glutathione peroxidase 6 1.304
GPX8 glutathione peroxidase 8 (putative) 1.303
GPX5 glutathione peroxidase 5 1.303
CPAMD8 C3 and PZP-like, alpha-2-macroglobulin domain containing 8 1.302
NDOR1 NADPH dependent diflavin oxidoreductase 1 1.302
GPX2 glutathione peroxidase 2 1.301
CRYAA crystallin, alpha A 1.3
PNPO pyridoxamine 5'-phosphate oxidase 1.294
DDAH2 dimethylarginine dimethylaminohydrolase 2 1.286
MT1E metallothionein 1E 1.284
DNMT1 DNA (cytosine-5-)-methyltransferase 1 1.282
INS insulin 1.282
COL4A1 collagen, type IV, alpha 1 1.281
FLCN folliculin 1.278
IL6 interleukin 6 1.276
IMPDH2 IMP (inosine 5'-monophosphate) dehydrogenase 2 1.274
OXA1L oxidase (cytochrome c) assembly 1-like 1.272
KIAA0408 KIAA0408 1.272
SLC6A12 solute carrier family 6 (neurotransmitter transporter), member 12 1.266
SHMT2 serine hydroxymethyltransferase 2 (mitochondrial) 1.265
DYRK1A dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A 1.263
DNAJC12 DnaJ (Hsp40) homolog, subfamily C, member 12 1.262
SMN2 survival of motor neuron 2, centromeric 1.262
MCCC2 methylcrotonoyl-CoA carboxylase 2 (beta) 1.262
ETFA electron-transfer-flavoprotein, alpha polypeptide 1.249
ALDH7A1 aldehyde dehydrogenase 7 family, member A1 1.247
BLVRB biliverdin reductase B 1.247
GCSH glycine cleavage system protein H (aminomethyl carrier) 1.244
NPC2 Niemann-Pick disease, type C2 1.241
SMN1 survival of motor neuron 1, telomeric 1.23
DDAH1 dimethylarginine dimethylaminohydrolase 1 1.229
AARS2 alanyl-tRNA synthetase 2, mitochondrial 1.221
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit 1.22
GADL1 glutamate decarboxylase-like 1 1.219
APOA1 apolipoprotein A-I 1.219
HLCS holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) 1.218
COL3A1 collagen, type III, alpha 1 1.215
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6 1.197
SMAD9 SMAD family member 9 1.195
BHMT2 betaine--homocysteine S-methyltransferase 2 1.195
ALAS1 5'-aminolevulinate synthase 1 1.195
ALAS2 5'-aminolevulinate synthase 2 1.191
MCCC1 methylcrotonoyl-CoA carboxylase 1 (alpha) 1.19
ALAD aminolevulinate dehydratase 1.187
DLD dihydrolipoamide dehydrogenase 1.184
ACSF3 acyl-CoA synthetase family member 3 1.182
TYMS thymidylate synthetase 1.181
PRRX2 paired related homeobox 2 1.176
FOLR1 folate receptor 1 (adult) 1.174
GAPDH glyceraldehyde-3-phosphate dehydrogenase 1.173
TNF tumor necrosis factor 1.172
GLDC glycine dehydrogenase (decarboxylating) 1.172
DARS2 aspartyl-tRNA synthetase 2, mitochondrial 1.171
SLC37A1 solute carrier family 37 (glucose-6-phosphate transporter), member 1 1.17
KCTD3 potassium channel tetramerization domain containing 3 1.168
BCKDK branched chain ketoacid dehydrogenase kinase 1.167
FECH ferrochelatase 1.166
F7 coagulation factor VII (serum prothrombin conversion accelerator) 1.165
ASS1 argininosuccinate synthase 1 1.164
OPLAH 5-oxoprolinase (ATP-hydrolysing) 1.161
HMOX1 heme oxygenase 1 1.157
SARDH sarcosine dehydrogenase 1.156
MBD5 methyl-CpG binding domain protein 5 1.152
CLYBL citrate lyase beta like 1.143
ACADSB acyl-CoA dehydrogenase, short/branched chain 1.142
GATM glycine amidinotransferase (L-arginine:glycine amidinotransferase) 1.139
PRELID2 PRELI domain containing 2 1.138
CKM creatine kinase, muscle 1.135
PKNOX1 PBX/knotted 1 homeobox 1 1.133
SERPIND1 serpin peptidase inhibitor, clade D (heparin cofactor), member 1 1.131
CKMT2 creatine kinase, mitochondrial 2 (sarcomeric) 1.127
CKMT1B creatine kinase, mitochondrial 1B 1.126
PKM pyruvate kinase, muscle 1.126
CKB creatine kinase, brain 1.123
NAXE NAD(P)HX epimerase 1.121
CFC1B cripto, FRL-1, cryptic family 1B 1.12
AKAP13 A kinase (PRKA) anchor protein 13 1.12
SLC7A9 solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9 1.115
FLAD1 flavin adenine dinucleotide synthetase 1 1.113
MRPL39 mitochondrial ribosomal protein L39 1.11
NOTCH3 notch 3 1.106
CYCS cytochrome c, somatic 1.102
GCSAML germinal center-associated, signaling and motility-like 1.096
APOB apolipoprotein B 1.096
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2 1.089
PDXK pyridoxal (pyridoxine, vitamin B6) kinase 1.087
IL1B interleukin 1, beta 1.085
FRMPD4 FERM and PDZ domain containing 4 1.084
DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha 1.083
PC pyruvate carboxylase 1.082
FBN2 fibrillin 2 1.082
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 1.08
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1 1.078
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4 1.075
SLC19A3 solute carrier family 19 (thiamine transporter), member 3 1.073
SLC6A6 solute carrier family 6 (neurotransmitter transporter), member 6 1.072
CRP C-reactive protein, pentraxin-related 1.071
CAPSL calcyphosine-like 1.07
FGF21 fibroblast growth factor 21 1.07
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 1.069
COL4A5 collagen, type IV, alpha 5 1.065
IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1 1.064
ETFB electron-transfer-flavoprotein, beta polypeptide 1.064
F13B coagulation factor XIII, B polypeptide 1.062
AMT aminomethyltransferase 1.06
FASTKD3 FAST kinase domains 3 1.052
APOA4 apolipoprotein A-IV 1.052
VCAM1 vascular cell adhesion molecule 1 1.051
LDLR low density lipoprotein receptor 1.044
PSPH phosphoserine phosphatase 1.043
SERAC1 serine active site containing 1 1.043
VSX2 visual system homeobox 2 1.042
SLC25A20 solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 1.042
GPT glutamic-pyruvate transaminase (alanine aminotransferase) 1.042
G6PD glucose-6-phosphate dehydrogenase 1.041
MRPS34 mitochondrial ribosomal protein S34 1.04
C3 complement component 3 1.039
KEAP1 kelch-like ECH-associated protein 1 1.035
ABCG1 ATP-binding cassette, sub-family G (WHITE), member 1 1.033
ATP7B ATPase, Cu++ transporting, beta polypeptide 1.033
C6ORF58 chromosome 6 open reading frame 58 1.031
POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa 1.031
TTR transthyretin 1.031
MLYCD malonyl-CoA decarboxylase 1.029
NOX4 NADPH oxidase 4 1.028
BARX1 BARX homeobox 1 1.028
ACADS acyl-CoA dehydrogenase, C-2 to C-3 short chain 1.027
AOX1 aldehyde oxidase 1 1.025
MAP2K5-DT MAP2K5 divergent transcript 1.025
LOX lysyl oxidase 1.025
BGLAP bone gamma-carboxyglutamate (gla) protein 1.022
L2HGDH L-2-hydroxyglutarate dehydrogenase 1.021
SUCLG1 succinate-CoA ligase, alpha subunit 1.019
SLC38A8 solute carrier family 38, member 8 1.019
HP haptoglobin 1.018
GSR glutathione reductase 1.018
U2AF1 U2 small nuclear RNA auxiliary factor 1 1.017
UBASH3A ubiquitin associated and SH3 domain containing A 1.016
NPC1 Niemann-Pick disease, type C1 1.015
PXDN peroxidasin 1.015
COMT catechol-O-methyltransferase 1.013
NFE2L2 nuclear factor, erythroid 2-like 2 1.013
HCFC1 host cell factor C1 1.013
ACTB actin, beta 1.009
PXDNL peroxidasin-like 1.006
POLG polymerase (DNA directed), gamma 1.005
GJB2 gap junction protein, beta 2, 26kDa 1.004
SCD stearoyl-CoA desaturase (delta-9-desaturase) 1.004
DMGDH dimethylglycine dehydrogenase 1.002
PPOX protoporphyrinogen oxidase 1.002
RUNX2 runt-related transcription factor 2 1.001
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta 1.0
SLC25A15 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 1.0