MCID: HYP037
MIFTS: 55

Hyperhomocysteinemia malady

Summaries for Hyperhomocysteinemia

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8Disease Ontology, 63Wikipedia, 32MalaCards
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Wikipedia:63 Hyperhomocysteinemia or hyperhomocysteinaemia is a medical condition characterized by an abnormally high... more...

MalaCards: Hyperhomocysteinemia is related to atherosclerosis and retinal vein occlusion. An important gene associated with Hyperhomocysteinemia is FOLH1 (folate hydrolase (prostate-specific membrane antigen) 1), and among its related pathways are Metabolism and One Carbon Metabolism. The compounds homocysteine and folate have been mentioned in the context of this disorder. Affiliated tissues include endothelial, brain and bone, and related mouse phenotypes are homeostasis/metabolism and mortality/aging.

Disease Ontology:8 An amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood.

Aliases & Classifications for Hyperhomocysteinemia

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8Disease Ontology, 10DISEASES, 44Novoseek, 60UMLS, 56SNOMED-CT, 39NCIt, 34MeSH
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Aliases & Descriptions:

hyperhomocysteinemia 8 10 44 60


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Disease Ontology8 DOID:9279
NCIt39 C84770
SNOMED-CT56 419503008
MeSH34 D020138

Related Diseases for Hyperhomocysteinemia

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17GeneCards, 18GeneDecks
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Diseases related to Hyperhomocysteinemia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 213)
idRelated DiseaseScoreTop Affiliating Genes
1atherosclerosis30.7SOD3, CST3, APOH, MTHFR, MTR, CBS
2retinal vein occlusion30.6APOH, F5, MTHFR, SERPINC1
3vascular disease30.5CST3, SOD3, APOH, CTH, F5, MTRR
4coronary artery disease30.5BCHE, THBD, GPX1, CBS, MTR, MTHFR
5myocardial infarction30.5F9, SOD3, CST3, F5, MTHFR, MTR
6central retinal vein occlusion30.5F5, MTHFR, APOH
7dementia30.5BCHE, CBS, MTR, CST3
8hypertension30.4MTHFR, F5, CST3
9hepatitis30.4F9
10stroke, ischemic30.4MTHFR, F5
11diabetes mellitus30.3CST3, MTHFR, RHD, GPX1, THBD, SERPINC1
12alzheimer's disease30.3BCHE, CBS, MTR, FOLH1, CST3
13acute myocardial infarction30.3SOD3, CST3, CBS, HRG, THBD, SERPINC1
14uremia30.3RHD
15portal vein thrombosis30.3F5, MTHFR, SERPINC1
16homocystinuria30.2SERPINC1, CBS, BHMT, MTR, MTHFR, MTRR
17pulmonary embolism30.2SERPINC1, CBS, MTHFR, F5, APOH, F9
18antiphospholipid syndrome30.2APOH, F5, MTHFR, THBD, SERPINC1
19ischemia30.2CST3, CBS, GPX1
20retinal artery occlusion30.2APOH
21thrombophilia30.1F9, SERPINC1, THBD, HRG, CBS, MTHFR
22obesity30.1BCHE, CBS
23protein s deficiency30.1F9, F5, RHD, SERPINC1
24vascular dementia30.0CST3, MTHFR, BCHE
25arteriosclerosis30.0MTHFR
26chronic kidney failure29.9SOD3, CST3, MTHFR, MTR, RHD, BHMT
27protein c deficiency29.9SERPINC1, THBD, HRG, MTHFR, F5, APOH
28leukemia29.9F9, MTHFR, MTR, RHD, CBS, AHCY
29breast cancer29.9F9, CST3, FOLH1, MTRR, MTHFR, MTR
30branch retinal artery occlusion29.9F5
31pancreatitis29.9BCHE
32arthritis29.9SOD3
33type 2 diabetes mellitus29.9F9, CST3, MTHFR, THBD, BCHE
34hepatitis c29.9F9
35schizophrenia29.9FOLH1, MTHFR, RHD, GPX1, BCHE
36factor v deficiency29.9F5
37hypothyroidism29.9CST3, F9
38cadasil29.7FOLH1, APOH, CST3, F9, F5, MTHFR
39homocysteinemia29.7CBS, MTR, MTHFR, F5
40deficiency anemia29.7F9, MTR, RHD, BCHE
41essential hypertension29.7THBD, CST3
42pneumonia29.7SOD3, BCHE
43retinal vascular occlusion29.7F5, APOH
44factor xii deficiency29.7F9, APOH, F5, SERPINC1
45placental abruption29.7SERPINC1, MTHFR, F5
46migraine29.7APOH, MTHFR
47lupus erythematosus29.7SERPINC1, THBD, F5, APOH
48patent foramen ovale29.7F5
49rheumatoid arthritis29.7SOD3, CST3, APOH, MTHFR, HRG
50peripheral vascular disease29.7MTHFR, CBS, THBD

Graphical network of the top 20 diseases related to Hyperhomocysteinemia:



Diseases related to hyperhomocysteinemia

Clinical Features for Hyperhomocysteinemia

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Drugs & Therapeutics for Hyperhomocysteinemia

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Hyperhomocysteinemia

Drug clinical trials:

Search ClinicalTrials for Hyperhomocysteinemia

Search NIH Clinical Center for Hyperhomocysteinemia

Search CenterWatch for Hyperhomocysteinemia

Genetic Tests for Hyperhomocysteinemia

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Anatomical Context for Hyperhomocysteinemia

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32MalaCards
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MalaCards organs/tissues related to Hyperhomocysteinemia:

32
Endothelial, Brain, Bone, Heart, Liver, Kidney, Monocytes, Testes, Skin, Breast, Cortex, Lung, Ovary, Colon, Myeloid, Skeletal muscle, Retina

Animal Models for Hyperhomocysteinemia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Hyperhomocysteinemia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537610.7BCHE, F9, SOD3, CST3, APOH, FOLH1
2MP:001076810.5F9, SOD3, ICMT, APOH, CTH, F5
3MP:000539710.5ICMT, RHD, CBS, GPX1, HRG, THBD
4MP:000537010.4F9, ICMT, CTH, F5, BHMT, CBS
5MP:000538510.2F9, CST3, FOLH1, CTH, CBS

Publications for Hyperhomocysteinemia

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50PubMed
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Articles related to Hyperhomocysteinemia:

(show top 50)    (show all 753)
idTitleAuthorsYear
1
Relationship between metformin use, vitamin B12 deficiency, hyperhomocysteinemia and vascular complications in patients with type 2 diabetes. (24018893)
2013
2
Alterations of retinal vasculature in cystathionine-Beta-synthase mutant mice, a model of hyperhomocysteinemia. (23307965)
2013
3
Sequential bilateral central retinal vein occlusions in a cystic fibrosis patient with hyperhomocysteinemia and hypergamma-globulinemia. (24404207)
2013
4
Mechanism of hyperhomocysteinemia-induced vascular endothelium dysfunction - possible dysregulation of phosphatidylinositol-3-kinase and its downstream phosphoinositide dependent kinase and protein kinase B. (24021535)
2013
5
Hyperhomocysteinemia decreases intestinal motility leading to constipation. (22595990)
2012
6
Transient increase in homocysteine but not hyperhomocysteinemia during acute exercise at different intensities in sedentary individuals. (23236449)
2012
7
Epithelial-to-mesenchymal transition in podocytes mediated by activation of NADPH oxidase in hyperhomocysteinemia. (21647593)
2011
8
Chronic hyperhomocysteinemia causes vascular remodelling by instigating vein phenotype in artery. (21838575)
2011
9
Inhibition of hepatic glycogen synthesis by hyperhomocysteinemia mediated by TRB3. (21435438)
2011
10
Hyperhomocysteinemia after kidney transplantation. (21440769)
2011
11
Chronic pancreatitis is associated with hyperhomocysteinemia and derangements in transsulfuration and transmethylation pathways. (20050230)
2010
12
Hyperhomocysteinemia in L-dopa treated patients with Parkinson's disease: potential implications in cognitive dysfunction and dementia? (20666719)
2010
13
Homocysteine impairs coronary artery endothelial function by inhibiting tetrahydrobiopterin in patients with hyperhomocysteinemia. (20858749)
2010
14
Dietary patterns are associated with hyperhomocysteinemia in an urban Pakistani population. (20463142)
2010
15
Hyperhomocysteinemia: a biochemical link between bone and cardiovascular system diseases? (19724160)
2009
16
Association of parental hyperhomocysteinemia and C677T Methylene tetrahydrofolate reductase (MTHFR) polymorphism with recurrent pregnancy loss. (19111530)
2009
17
Hyperhomocysteinemia as an independent risk factor for cardioembolic stroke in the Turkish population. (19638733)
2009
18
Hyperhomocysteinemia, paraoxonase concentration and cardiovascular complications in Tunisian patients with nondiabetic renal disease. (19233152)
2009
19
Homocysteine, the cholesterol of the 21st century. Impact of hyperhomocysteinemia on patency and amputation-free survival after intervention for critical limb ischemia. (18729558)
2008
20
Cryptogenic stroke in a boy with atrial septal defect and hyperhomocysteinemia. (18474934)
2008
21
Mitochondrial matrix metalloproteinase activation decreases myocyte contractility in hyperhomocysteinemia. (18567713)
2008
22
Effects of hyperhomocysteinemia on non-adrenergic non-cholinergic relaxation in isolated rat duodenum. (18535907)
2008
23
Association of tow thrombotic risk factors: factor V Leiden and hyperhomocysteinemia. A case report]. (16707235)
2007
24
Asymmetric dimethylarginine (ADMA) and hyperhomocysteinemia in patients with acute myocardial infarction. (17020756)
2007
25
Folic acid and B vitamins improve hyperhomocysteinemia-induced cardiovascular risk profile in renal transplant recipients. (17461937)
2007
26
Primary intrapulmonary thymoma associated with congenital hyperhomocysteinemia. (17723840)
2007
27
Hyperhomocysteinemia--one of the factors underlying thrombotic complications in patients with chronic myeloproliferative diseases]. (18220034)
2007
28
Hyperhomocysteinemia and polymorphisms of the methylenetetrahydrofolate gene in hemodialysis and peritoneal dialysis patients. (17966140)
2007
29
Portal vein thrombosis secondary to hyperhomocysteinemia: a case report. (16944013)
2006
30
Folic acid reduces adhesion molecules VCAM-1 expession in aortic of rats with hyperhomocysteinemia. (16183151)
2006
31
A clinical study of hyperhomocysteinemia in rheumatological diseases]. (15840222)
2005
32
Hyperhomocysteinemia and the MTHFR C677T polymorphism promote steatosis and fibrosis in chronic hepatitis C patients. (15834927)
2005
33
Folic acid reverses hyper-responsiveness of LPS-induced chemokine secretion from monocytes in patients with hyperhomocysteinemia. (15777559)
2005
34
Prevalence of myocardial infarction is related to hyperhomocysteinemia but not influenced by C677T methylenetetrahydrofolate reductase and A2756G methionine synthase polymorphisms in diabetic and non-diabetic subjects. (15820491)
2005
35
Hyperhomocysteinemia, oxidative stress and microinflammation in chronic renal failure: their roles in atherogene]. (15130417)
2004
36
Relationships of plasma interleukin-18 concentrations to hyperhomocysteinemia and carotid intimal-media wall thickness in patients with type 2 diabetes. (12941729)
2003
37
Genetic determinants of fasting and post-methionine hyperhomocysteinemia in patients with retinal vein occlusion. (12877902)
2003
38
Potential for misdiagnosis due to lack of metabolic derangement in combined methylmalonic aciduria/hyperhomocysteinemia (cblC) in the neonate. (12847533)
2003
39
Hyperhomocysteinemia in central retinal vein occlusion in young adults. (15513477)
2003
40
Hyperhomocysteinemia and deep-vein thrombosis]. (14714317)
2003
41
Post-methionine-load hyperhomocysteinemia and increased lipoprotein(a) are associated with renal metabolic dysfunction: a hypothesis. (12370840)
2002
42
Cerebrovascular events in patients with significant stenosis of the carotid artery are associated with hyperhomocysteinemia and platelet antigen-1 (Leu33Pro) polymorphism. (11739968)
2001
43
Importance of hyperhomocysteinemia as a risk factor for venous thromboembolism in a Taiwanese population. A case-control study. (11395124)
2001
44
Hyperhomocysteinemia in chronic alcoholism: relations to folic acid and vitamins B(6) and B(12) status. (10758367)
2000
45
A hyperhomocysteinemia study in a population with a familial factor for acute myocardial infarct and sudden cardiac death at a young age]. (10188334)
1999
46
Effective correction of hyperhomocysteinemia in hemodialysis patients by intravenous folinic acid and pyridoxine therapy. (10594808)
1999
47
Genetic causes of mild hyperhomocysteinemia in patients with premature occlusive coronary artery diseases. (10208491)
1999
48
Hyperhomocysteinemia: a risk factor for placental abruption or infarction. (8735754)
1996
49
Thermolabile 5,10-methylenetetrahydrofolate reductase as a cause of mild hyperhomocysteinemia. (7825569)
1995
50
Homocystinuria: case reports with a note on hyperhomocysteinemia as a risk factor for the early onset of vascular disease]. (7853996)
1994

Genetic Variations for Hyperhomocysteinemia

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Expression for genes affiliated with Hyperhomocysteinemia

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hyperhomocysteinemia

Search GEO for disease gene expression data for Hyperhomocysteinemia.

Pathways for genes affiliated with Hyperhomocysteinemia

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53Reactome, 29KEGG, 37NCBI BioSystems Database, 12EMD Millipore, 49PharmGKB, 51QIAGEN, 52R&D Systems
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Pathways related to Hyperhomocysteinemia according to GeneCards/GeneDecks:

(show all 20)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
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10.5CTH, MTRR, MTHFR, MTR, BHMT, CBS
2
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10.5AHCY, BHMT, MTR, MTHFR, MTRR, FOLH1
310.5CTH, MTRR, MTR, BHMT, CBS, AHCY
4
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10.5CTH, MTRR, MTR, BHMT, CBS, AHCY
510.5SOD3, CTH, MTHFR, MTR, CBS, GPX1
6
Hide members
10.5MTRR, MTHFR, MTR, CBS, AHCY
710.5SOD3, MTRR, MTHFR, AHCY, GPX1
8
Hide members
10.5CTH, MTHFR, MTR, CBS
9
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10.5MTRR, MTR, CBS, AHCY
1010.5CTH, MTR, CBS, AHCY
11
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10.5MTR, BHMT, CBS
12
Hide members
10.5MTR, MTHFR, MTRR
1310.5CTH, BHMT, CBS
14
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10.5MTR, MTHFR
1510.5BHMT, MTR
16
Hide members
10.5CBS, CTH
17
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10.5SERPINC1, THBD, F5
18
Hide members
10.5F9, F5, THBD, SERPINC1
19
Hide members
10.5F9, F5, THBD, SERPINC1
20
Hide members
10.5SERPINC1, THBD, F5, F9

Compounds for genes affiliated with Hyperhomocysteinemia

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44Novoseek, 24HMDB, 11DrugBank, 49PharmGKB, 28IUPHAR, 59Tocris Bioscience
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Compounds related to Hyperhomocysteinemia according to GeneCards/GeneDecks:

(show top 50)    (show all 148)
idCompoundScoreTop Affiliating Genes
1homocysteine44 2412.0AHCY, GPX1, THBD, SERPINC1, CBS, F9
2folate4411.0SOD3, MTR, SERPINC1, CST3, APOH, FOLH1
3cysteine4411.0GPX1, AHCY, CBS, MTR, MTHFR, F5
4methionine4411.0F9, SOD3, CST3, CTH, MTRR, MTHFR
5vitamin b124411.0F5, MTRR, MTHFR, MTR, CST3, APOH
6vitamin b64411.0CST3, CTH, F5, MTHFR, MTR, BHMT
7cystathionine4411.0CST3, CTH, F5, MTRR, MTHFR, MTR
8copper44 2412.0FOLH1, MTR, F5, APOH, SOD3, AHCY
9serine4411.0CBS, BHMT, RHD, CTH, FOLH1, SOD3
10alanine4411.0SERPINC1, THBD, GPX1, MTHFR, MTRR, F5
115-methyltetrahydrofolate44 1111.9MTHFR, CBS, MTR, MTRR, F5
12aspartate4410.9ICMT, CST3, BCHE, MTR, MTRR, RHD
13betaine44 2411.9MTRR, MTHFR, MTR, BHMT, CBS
14fibrinogen4410.9THBD, F9, SERPINC1, HRG, CBS, F5
15s-adenosylmethionine44 11 2412.9BHMT, AHCY, MTR, MTHFR, CBS, ICMT
16arginine4410.9CBS, F9, F5, APOH, SOD3, CST3
17methylmalonic acid44 2411.9MTR, MTHFR, CBS, MTRR, CST3
18kininogen4410.9SERPINC1, APOH, F9, CST3, F5, HRG
19s-adenosylhomocysteine44 2411.9ICMT, CBS, MTRR, AHCY, MTR, MTHFR
20glutamate4410.9APOH, BCHE, THBD, CTH, FOLH1
21methotrexate44 49 1112.9MTHFR, MTRR, MTR, CST3, APOH, FOLH1
22creatinine4410.9F5, CST3, MTHFR, THBD, SERPINC1, F9
23methylcobalamin44 2411.9MTRR, MTHFR, CBS, MTR
24b vitamins4410.9MTRR, MTHFR, MTR, CBS
25heparin44 28 11 2413.9APOH, HRG, SOD3, MTHFR, F9, BCHE
26cholesterol44 28 11 2413.9SOD3, CST3, APOH, THBD, CBS, MTHFR
27warfarin44 49 11 2413.9APOH, F9, SERPINC1
28pyridoxal 5-phosphate4410.9CST3, CTH, MTHFR, MTR, CBS
29nitric oxide44 11 2412.9SOD3, MTR, MTRR, F5, APOH, GPX1
30fondaparinux4410.9F9, SERPINC1, THBD, F5
31dermatan sulfate4410.8F5, F9, HRG, SERPINC1, THBD
32cyclophosphamide44 49 1112.8F5, F9, APOH, MTHFR, THBD, BCHE
33cobalamin44 2411.8CBS, MTRR, MTHFR, MTR
34benzamidine44 1111.8THBD, F9, SERPINC1, F5
35uric acid44 2411.8SOD3, MTHFR, APOH, F5, CST3
36aprotinin44 1111.8F5, F9, THBD, SERPINC1
37aspirin44 49 28 2413.8MTHFR, BCHE, F5, THBD, SERPINC1, APOH
38polyethylene glycol4410.8CST3, SERPINC1, F5, THBD, BCHE
39hydrogen44 2411.8AHCY, THBD, CBS, MTR, CST3, F9
40hirugen4410.7F5, THBD, SERPINC1
41desmopressin44 59 28 1113.7F9, THBD, SERPINC1, F5
42p0024410.7CBS, CST3, APOH, F5, MTHFR
435,10-methenyltetrahydrofolate4410.7MTR, CBS, MTHFR
44histidine4410.7CBS, MTR, BCHE, HRG, FOLH1, F9
45zinc44 2411.6MTR, HRG, F9, BHMT, CBS, FOLH1
46hirudin4410.6THBD, SERPINC1, F9, F5
47polysaccharide4410.5THBD, SERPINC1, RHD, F5, FOLH1, CST3
48ximelagatran44 1111.5F5, THBD, SERPINC1
49ancrod4410.4F5, SERPINC1, THBD
50kaolin4410.2F9, APOH, F5

GO Terms for genes affiliated with Hyperhomocysteinemia

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16Gene Ontology
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Cellular components related to Hyperhomocysteinemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytosolGO:00582910.6CTH, MTRR, MTHFR, MTR, BHMT, CBS
2extracellular spaceGO:00561510.2BCHE, SOD3, CST3, APOH, F5, SERPINC1

Biological processes related to Hyperhomocysteinemia according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1sulfur amino acid metabolic processGO:00009610.8AHCY, CBS, BHMT, MTR, MTRR, CTH
2cellular nitrogen compound metabolic processGO:03464110.8CTH, MTRR, MTR, BHMT, CBS, AHCY
3methionine biosynthetic processGO:00908610.8MTRR, MTHFR, BHMT
4negative regulation of fibrinolysisGO:05191810.7THBD, HRG, APOH
5methylationGO:03225910.7MTRR, MTR, AHCY
6small molecule metabolic processGO:04428110.7CTH, MTRR, MTHFR, MTR, BHMT, CBS
7transsulfurationGO:01934610.7CBS, CTH
8hydrogen sulfide biosynthetic processGO:07081410.6CTH, CBS
9homocysteine metabolic processGO:05066710.6CBS, MTHFR
10blood coagulationGO:00759610.5F9, F5, HRG, THBD, SERPINC1
11negative regulation of blood coagulationGO:03019510.5THBD, APOH
12water-soluble vitamin metabolic processGO:00676710.4MTR, MTHFR, MTRR
13vitamin metabolic processGO:00676610.2MTRR, MTHFR, MTR

Molecular functions related to Hyperhomocysteinemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1modified amino acid bindingGO:07234110.5CBS, MTHFR
2heparin bindingGO:00820110.4SERPINC1, HRG, APOH, SOD3
3homocysteine S-methyltransferase activityGO:00889810.2BHMT, MTR

Products for genes affiliated with Hyperhomocysteinemia

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  • Antibodies
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Sources for Hyperhomocysteinemia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet