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 heart, 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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Sources:
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, Heart, Bone, Liver, Kidney, Monocytes, Testes, Breast, Skin, Cortex, Lung, Skeletal muscle, Myeloid, Ovary, Retina, Colon

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
Different impact of hyperhomocysteinemia on cerebral small vessel ischemia and cervico-cerebral atherosclerosis in non-stroke individuals. (23218488)
2013
2
Homocysteine lowering by folate-rich diet or pharmacological supplementations in subjects with moderate hyperhomocysteinemia. (23698160)
2013
3
Epigenetic alterations in folate transport genes in placental tissue from fetuses with neural tube defects and in leukocytes from subjects with hyperhomocysteinemia. (23417011)
2013
4
Smokeless tobacco use: a risk factor for hyperhomocysteinemia in a pakistani population. (24376761)
2013
5
Prevalence of hyperhomocysteinemia in healthy Indian doctors. (23519236)
2013
6
Hyperhomocysteinemia is an independent risk factor in young patients with coronary artery disease in southern China. (23430091)
2013
7
Tissue-specific relationship of S-adenosylhomocysteine with allele-specific H19/Igf2 methylation and imprinting in mice with hyperhomocysteinemia. (23221482)
2013
8
Coenzyme Q10, hyperhomocysteinemia and MTHFR C677T polymorphism in levodopa-treated Parkinson's disease patients. (22354693)
2012
9
Caffeic acid inhibits acute hyperhomocysteinemia-induced leukocyte rolling and adhesion in mouse cerebral venules. (22145713)
2012
10
Association of hyperhomocysteinemia with liver steatosis in patients with chronic hepatitis C]. (21051057)
2011
11
Mechanisms of cardiovascular remodeling in hyperhomocysteinemia. (21126196)
2011
12
Vitamin B12 deficiency, hyperhomocysteinemia and thrombosis: a case and control study. (21475950)
2011
13
Hyperhomocysteinemia, obesity and cryptogenic stroke. (21321408)
2011
14
Protection of podocytes from hyperhomocysteinemia-induced injury by deletion of the gp91phox gene. (20116427)
2010
15
Hyperhomocysteinemia and thrombophilia. (21105837)
2010
16
Hydrogen sulfide: regulatory role on blood pressure in hyperhomocysteinemia. (20685250)
2010
17
A case of Hughes-Stovin syndrome associated with hyperhomocysteinemia. (20140757)
2010
18
Ischemic stroke and hyperhomocysteinemia: truth or myth? (19902811)
2009
19
Case-control Study of methylenetetrahydrofolate reductase mutations and hyperhomocysteinemia and risk of stroke. (19717029)
2009
20
Hyperhomocysteinemia in uremia--a red flag in a disrupted circuit. (19708980)
2009
21
Hyperhomocysteinemia is not sufficient to cause preeclampsia in an animal model: the importance of folate intake. (19110222)
2009
22
Mesna for treatment of hyperhomocysteinemia in hemodialysis patients: a placebo-controlled, double-blind, randomized trial. (18337551)
2008
23
Treatment of hyperhomocysteinemia and endothelial dysfunction in renal transplant recipients with B vitamins in the Chinese population. (18206175)
2008
24
Mesenteric venous thrombosis with bowel infarction and hyperhomocysteinemia due to homozygous methylenetetrahydrofolate reductase C677T genotype. (19000982)
2008
25
Mild hyperhomocysteinemia is associated with increased TAFI levels and reduced plasma fibrinolytic potential. (18624976)
2008
26
Stroke and the genetics of hyperhomocysteinemia]. (19069163)
2008
27
Hyperhomocysteinemia is a risk factor for erectile dysfunction in men with adult-onset diabetes mellitus. (18455630)
2008
28
Hyperhomocysteinemia due to pernicious anemia leading to pulmonary thromboembolism in a heterozygous mutation carrier. (18586684)
2008
29
Should hyperhomocysteinemia be treated in patients with atherosclerotic disease? (18001620)
2007
30
MTHFR C677T and A1298C gene polymorphisms and hyperhomocysteinemia as risk factors of diabetic nephropathy in type 2 diabetes patients. (16828193)
2007
31
Hyperhomocysteinemia in a cohort of young patients with acute myocardial infarction from Western India: pattern of response to oral folic acid, vitamin B12, B6 therapy. (17069780)
2007
32
Folic acid administration and antibodies against homocysteinylated proteins in subjects with hyperhomocysteinemia. (16953277)
2006
33
Hyperhomocysteinemia and venous thromboembolism. (17024599)
2006
34
Toxic effects of hyperhomocysteinemia in chronic renal failure and in uremia: cardiovascular and metabolic consequences. (16412820)
2006
35
The angiotensin type 1 receptor antagonist valsartan attenuates pathological ventricular hypertrophy induced by hyperhomocysteinemia in rats. (17318789)
2006
36
Vitamin B12 deficiency and hyperhomocysteinemia in rural and urban Indians. (17214273)
2006
37
Role of redox factor-1 in hyperhomocysteinemia-accelerated atherosclerosis. (17045925)
2006
38
Genetic determinants of hyperhomocysteinemia in atherosclerosis. (23105606)
2006
39
Hyperhomocysteinemia, methylenetetrahydrofolate reductase 677TT genotype, and the risk for schizophrenia: a Dutch population based case-control study. (15806605)
2005
40
Hyperhomocysteinemia is associated with human coronary atherosclerosis through the reduction of the ratio of endothelium-bound to basal extracellular superoxide dismutase. (15329502)
2004
41
Perturbations in homocysteine-linked redox homeostasis in a murine model for hyperhomocysteinemia. (15016621)
2004
42
Hyperhomocysteinemia and MTHFR C677T and A1298C polymorphisms are associated with chronic allograft nephropathy in renal transplant recipients. (15686674)
2004
43
Hyperhomocysteinemia and cardiovascular disease in uremia: the newest evidence in epidemiology and mechanisms of action. (15490404)
2004
44
Hyperhomocysteinemia: an independent risk factor or a simple marker of vascular disease?. 1. Basic data]. (12801808)
2003
45
Hyperhomocysteinemia and prevalence of polymorphisms of homocysteine metabolism-related enzymes in patients with inflammatory bowel disease. (11569694)
2001
46
Inflammation, not hyperhomocysteinemia, is related to oxidative stress and hemostatic and endothelial dysfunction in uremia. (11703602)
2001
47
Hyperhomocysteinemia: a new risk factor for central retinal vein occlusion. (11190038)
2000
48
Hyperhomocysteinemia increases risk of death, especially in type 2 diabetes : 5-year follow-up of the Hoorn Study. (10747342)
2000
49
Cerebral vascular complication of hyperhomocysteinemia. Controlling thromboembolic complications with folates]. (9380637)
1997
50
Prevalence of moderate hyperhomocysteinemia in patients with early-onset venous and arterial occlusive disease. (7574192)
1995

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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Sources:
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
Hide members
10.5MTRR, MTR, CBS, AHCY
1010.5CTH, MTR, CBS, AHCY
11
Hide members
10.5MTR, BHMT, CBS
12
Hide members
10.5MTR, MTHFR, MTRR
1310.5CTH, BHMT, CBS
14
Hide members
10.5MTR, MTHFR
1510.5BHMT, MTR
16
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10.5CBS, CTH
17
Hide members
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