Hyperhomocysteinemia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description An amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood. (Human Disease Ontology, DOID_9279)
External Link https://www.disgenet.org/browser/0/1/0/C0598608
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Genes

236 genes associated with the disease Hyperhomocysteinemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
ACE angiotensin I converting enzyme
ACTB actin, beta
ADH5 alcohol dehydrogenase 5 (class III), chi polypeptide
AGER advanced glycosylation end product-specific receptor
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AGTR1 angiotensin II receptor, type 1
AHCY adenosylhomocysteinase
AIF1 allograft inflammatory factor 1
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALOX5 arachidonate 5-lipoxygenase
APC adenomatous polyposis coli
APEX1 APEX nuclease (multifunctional DNA repair enzyme) 1
APOA1 apolipoprotein A-I
APOE apolipoprotein E
APOH apolipoprotein H (beta-2-glycoprotein I)
APOM apolipoprotein M
APP amyloid beta (A4) precursor protein
ATF3 activating transcription factor 3
ATM ATM serine/threonine kinase
ATP1A1 ATPase, Na+/K+ transporting, alpha 1 polypeptide
ATP1A2 ATPase, Na+/K+ transporting, alpha 2 polypeptide
BCHE butyrylcholinesterase
BCL2 B-cell CLL/lymphoma 2
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BHMT betaine--homocysteine S-methyltransferase
BHMT2 betaine--homocysteine S-methyltransferase 2
BNIP3 BCL2/adenovirus E1B 19kDa interacting protein 3
BRCA1 breast cancer 1, early onset
CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
CASP1 caspase 1, apoptosis-related cysteine peptidase
CASP3 caspase 3, apoptosis-related cysteine peptidase
CASR calcium-sensing receptor
CAT catalase
CBS cystathionine-beta-synthase
CCL2 chemokine (C-C motif) ligand 2
CCL5 chemokine (C-C motif) ligand 5
CCR5 chemokine (C-C motif) receptor 5 (gene/pseudogene)
CD19 CD19 molecule
CD320 CD320 molecule
CD34 CD34 molecule
CD36 CD36 molecule (thrombospondin receptor)
CDK9 cyclin-dependent kinase 9
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1)
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CHDH choline dehydrogenase
COX2
COX8A cytochrome c oxidase subunit VIIIA (ubiquitous)
CPB2 carboxypeptidase B2 (plasma)
CRP C-reactive protein, pentraxin-related
CTH cystathionine gamma-lyase
CTSV cathepsin V
CUBN cubilin (intrinsic factor-cobalamin receptor)
CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1
CYP2J2 cytochrome P450, family 2, subfamily J, polypeptide 2
DCTN4 dynactin 4 (p62)
DDAH1 dimethylarginine dimethylaminohydrolase 1
DDAH2 dimethylarginine dimethylaminohydrolase 2
DECR1 2,4-dienoyl CoA reductase 1, mitochondrial
DES desmin
DLG4 discs, large homolog 4 (Drosophila)
DMP1 dentin matrix acidic phosphoprotein 1
DNMT1 DNA (cytosine-5-)-methyltransferase 1
DUOX1 dual oxidase 1
DUOX2 dual oxidase 2
DYRK1A dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
ECE1 endothelin converting enzyme 1
EDNRA endothelin receptor type A
ELN elastin
ERBB2 erb-b2 receptor tyrosine kinase 2
ERO1A endoplasmic reticulum oxidoreductase 1 alpha
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
F10 coagulation factor X
F12 coagulation factor XII (Hageman factor)
F2 coagulation factor II (thrombin)
F3 coagulation factor III (thromboplastin, tissue factor)
F5 coagulation factor V (proaccelerin, labile factor)
F8 coagulation factor VIII, procoagulant component
FBN1 fibrillin 1
FOLH1 folate hydrolase (prostate-specific membrane antigen) 1
FOLR1 folate receptor 1 (adult)
FOLR2 folate receptor 2 (fetal)
FOXO1 forkhead box O1
FTO fat mass and obesity associated
G6PD glucose-6-phosphate dehydrogenase
GABPA GA binding protein transcription factor, alpha subunit 60kDa
GFAP glial fibrillary acidic protein
GNMT glycine N-methyltransferase
GORASP1 golgi reassembly stacking protein 1, 65kDa
GPX1 glutathione peroxidase 1
GPX7 glutathione peroxidase 7
GRIA1 glutamate receptor, ionotropic, AMPA 1
GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A
GRIN2B glutamate receptor, ionotropic, N-methyl D-aspartate 2B
GRN granulin
GSTM1 glutathione S-transferase mu 1
GSTT1 glutathione S-transferase theta 1
GTF2H1 general transcription factor IIH, polypeptide 1, 62kDa
HCAR2 hydroxycarboxylic acid receptor 2
HDAC3 histone deacetylase 3
HERPUD1 homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1
HES1 hes family bHLH transcription factor 1
HES5 hes family bHLH transcription factor 5
HEY2 hes-related family bHLH transcription factor with YRPW motif 2
HLA-DMA major histocompatibility complex, class II, DM alpha
HMGB1 high mobility group box 1
HMOX1 heme oxygenase 1
HSD11B1 hydroxysteroid (11-beta) dehydrogenase 1
HSF1 heat shock transcription factor 1
HSPA4 heat shock 70kDa protein 4
HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)
ICAM1 intercellular adhesion molecule 1
IFNG interferon, gamma
IL17A interleukin 17A
IL18 interleukin 18
IL1B interleukin 1, beta
IL37 interleukin 37
IL6 interleukin 6
JAK2 Janus kinase 2
KDR kinase insert domain receptor
KHDRBS1 KH domain containing, RNA binding, signal transduction associated 1
KLF4 Kruppel-like factor 4 (gut)
KLK1 kallikrein 1
KLK3 kallikrein-related peptidase 3
KRT19 keratin 19, type I
LDLR low density lipoprotein receptor
LOC102724560 cystathionine beta-synthase
LPA lipoprotein, Lp(a)
MAP1LC3B microtubule-associated protein 1 light chain 3 beta
MAPK8 mitogen-activated protein kinase 8
MAPT microtubule-associated protein tau
MAT1A methionine adenosyltransferase I, alpha
MBL2 mannose-binding lectin (protein C) 2, soluble
MBP myelin basic protein
MCIDAS multiciliate differentiation and DNA synthesis associated cell cycle protein
MEF2C myocyte enhancer factor 2C
MEFV Mediterranean fever
MMD monocyte to macrophage differentiation-associated
MMP13 matrix metallopeptidase 13
MMP2 matrix metallopeptidase 2
MMP3 matrix metallopeptidase 3
MMP9 matrix metallopeptidase 9
MMRN1 multimerin 1
MRGPRD MAS-related GPR, member D
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
MTX1 metaxin 1
MYLK myosin light chain kinase
NFE2L2 nuclear factor, erythroid 2-like 2
NGF nerve growth factor (beta polypeptide)
NLRP3 NLR family, pyrin domain containing 3
NNMT nicotinamide N-methyltransferase
NOS3 nitric oxide synthase 3 (endothelial cell)
NPHS1 nephrosis 1, congenital, Finnish type (nephrin)
NPPB natriuretic peptide B
NR1H3 nuclear receptor subfamily 1, group H, member 3
NRP1 neuropilin 1
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
NUP62 nucleoporin 62kDa
OCM oncomodulin
OLR1 oxidized low density lipoprotein (lectin-like) receptor 1
PAX5 paired box 5
PC pyruvate carboxylase
PCSK9 proprotein convertase subtilisin/kexin type 9
PDE5A phosphodiesterase 5A, cGMP-specific
PDXP pyridoxal (pyridoxine, vitamin B6) phosphatase
PECAM1 platelet/endothelial cell adhesion molecule 1
PGF placental growth factor
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
PKM pyruvate kinase, muscle
PLP1 proteolipid protein 1
POLG polymerase (DNA directed), gamma
PON1 paraoxonase 1
PPARA peroxisome proliferator-activated receptor alpha
PPARG peroxisome proliferator-activated receptor gamma
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
PPP2CA protein phosphatase 2, catalytic subunit, alpha isozyme
PRDX5 peroxiredoxin 5
PRKCB protein kinase C, beta
PROC protein C (inactivator of coagulation factors Va and VIIIa)
PROS1 protein S (alpha)
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTHLH parathyroid hormone-like hormone
PTPA protein phosphatase 2 phosphatase activator
PYCARD PYD and CARD domain containing
RAC1 ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)
RASSF1 Ras association (RalGDS/AF-6) domain family member 1
RELA v-rel avian reticuloendotheliosis viral oncogene homolog A
REN renin
RFC1 replication factor C (activator 1) 1, 145kDa
S100A4 S100 calcium binding protein A4
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SH2B2 SH2B adaptor protein 2
SHMT1 serine hydroxymethyltransferase 1 (soluble)
SIRT1 sirtuin 1
SLC12A9 solute carrier family 12, member 9
SLC17A1 solute carrier family 17 (organic anion transporter), member 1
SLC19A1 solute carrier family 19 (folate transporter), member 1
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SLC33A1 solute carrier family 33 (acetyl-CoA transporter), member 1
SLC46A1 solute carrier family 46 (folate transporter), member 1
SLCO1B1 solute carrier organic anion transporter family, member 1B1
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SOD1 superoxide dismutase 1, soluble
SOD2 superoxide dismutase 2, mitochondrial
SPINT1 serine peptidase inhibitor, Kunitz type 1
SPP1 secreted phosphoprotein 1
SQSTM1 sequestosome 1
ST14 suppression of tumorigenicity 14 (colon carcinoma)
SYN1 synapsin I
SYT1 synaptotagmin I
TAS2R13 taste receptor, type 2, member 13
TCN2 transcobalamin II
TERT telomerase reverse transcriptase
TGFB1 transforming growth factor, beta 1
THBD thrombomodulin
TIMP1 TIMP metallopeptidase inhibitor 1
TIMP2 TIMP metallopeptidase inhibitor 2
TLR4 toll-like receptor 4
TNF tumor necrosis factor
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TRIB3 tribbles pseudokinase 3
TXN thioredoxin
TYMS thymidylate synthetase
UCP2 uncoupling protein 2 (mitochondrial, proton carrier)
VAV2 vav 2 guanine nucleotide exchange factor
VCAM1 vascular cell adhesion molecule 1
VEGFA vascular endothelial growth factor A
WNK1 WNK lysine deficient protein kinase 1
XBP1 X-box binding protein 1