Logo arc image image
GATACA
  • Pin/Unpin Search
  • Pin/Unpin Details
Status:
Global Actions
Concepts: 0 (0)   Selected: 0 (0
Clear All Selections
 
Search
Text Search Results
Text Search Query:
none
Text Search Options:
none

Guided Help

Text Search Results
GraphTree Minimize or Maximize this Category
 Disease: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Anatomy: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Gene: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Jax Mouse Phenotype: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Human Phenotype: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Gene Ontology: Biological Processes: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Gene Ontology: Cellular Component: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Gene Ontology: Molecular Function: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Pathway: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Drug: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Genomic Expression Atlas --
      Microarray Datasets: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 PubMed: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 CoExpression Atlas: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 CoExpression: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Interactions: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Details
Link-It Detail - Disease - Hyperhomocysteinemia
Debug Stats
  • ### Total Build Time: 125 ms 54.397 KB
  • CONCEPT_NAME gt=5 ms Completed: 5 ms rowSize= 338 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 443 bytes
  • Skipping details on: CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_SEMANTIC_TYPE gt=0 Completed: 0 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 1.418 KB
  • CONCEPT_CHILDREN gt=8 ms Completed: 8 ms rowSize= 552 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 6.732 KB
  • CONCEPT_RELATIONSHIPS gt=62 ms Completed: 62 ms rowSize= 13.245 KB
  • CONCEPT_GENES gt=40 ms Completed: 40 ms rowSize= 30.335 KB
  • CONCEPT_XREFS gt=9 ms Completed: 9 ms rowSize= 1.154 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Hyperhomocysteinemia C0598608
Definition (1)
A serious metabolic condition caused by mutations in the MTHFR gene, medications, or nutritional deficiency. It results in increased levels of homocysteine in the blood. Patients with this condition are at an increased risk for recurrent blood clots formation and cardiovascular accidents.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (3)
img Malabsorption Syndromes C0024523
img Vitamin B Deficiency C0042850
img Amino Acid Metabolism, Inborn Errors C0002514
Children (1)
img Homocystinuria C0019880
Ancestral Roots
RootRoot Plus OneDepthParent
img Digestive System Diseases C0012242img Gastrointestinal Diseases C00171785img Malabsorption Syndromes C0024523
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255174img Malabsorption Syndromes C0024523
img Nutritional and Metabolic Diseases C0028715img Nutrition Disorders C00287097img Vitamin B Deficiency C0042850
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Amino Acid Metabolism, Inborn Errors C0002514
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Amino Acid Metabolism, Inborn Errors C0002514
Relationships (71)

Relation Types:
diso_​to_​anat : 5
diso_​to_​chem : 18
diso_​to_​diso : 41
diso_​to_​gene : 1
diso_​to_​phen : 2
diso_​to_​phys : 4


Relationships:
none : 67
isa : 1
mapped_​to : 1
permuted_​term_​of : 1
used_​for : 1
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO474img Complication Aspects C1171258
DISO_to_ANAT350img In Blood C0005768
DISO_to_DISO330img Complication Aspects C1171258
DISO_to_CHEM311img Homocysteine C0019878
DISO_to_CHEM261img Homocysteine C0019878
DISO_to_ANAT254img In Blood C0005768
DISO_to_PHEN150img genetic aspects C0017399
DISO_to_PHEN149img genetic aspects C0017399
DISO_to_CHEM146img Folic Acid C0016410
DISO_to_CHEM83img Folic Acid C0016410
DISO_to_CHEM75img Methylenetetrahydrofolate Reductase (NADPH2) C0066357
DISO_to_DISO74img chemically induced C0007994
DISO_to_DISO72img Cardiovascular Diseases C0007222
DISO_to_CHEM70img Vitamin B 12 C0042845
DISO_to_CHEM63img Methylenetetrahydrofolate Reductase (NADPH2) C0066357
DISO_to_DISO59img Cardiovascular Diseases C0007222
DISO_to_ANAT55img Endothelium, Vascular C0014261
DISO_to_DISO55img Kidney Failure, Chronic C0022661
DISO_to_CHEM49img Vitamin B Complex C0042849
DISO_to_DISO49img chemically induced C0007994
DISO_to_CHEM48img Vitamin B Complex C0042849
DISO_to_DISO45img Cerebrovascular accident C0038454
DISO_to_DISO45img Venous Thrombosis C0042487
DISO_to_DISO42img Coronary Artery Disease C1956346
DISO_to_DISO39img Thrombosis C0040053
Genes (25)

Species:
human : 25
SpeciesGeneGeneIdGene NameEvidence
HumanCXCL1658191chemokine (C-X-C motif) ligand 16
img GENERIF, Score=1000, Pubmed Id: 18194461, UMLKSK CUI: C0598608
HumanBHMT223743betaine--homocysteine S-methyltransferase 2
img GENERIF, Score=1000, Pubmed Id: 12818402, UMLKSK CUI: C0598608
HumanCXCR610663chemokine (C-X-C motif) receptor 6
img GENERIF, Score=1000, Pubmed Id: 18194461, UMLKSK CUI: C0598608
HumanVEGFA7422vascular endothelial growth factor A
img GENERIF, Score=1000, Pubmed Id: 12957716, UMLKSK CUI: C0598608
HumanTYMS7298thymidylate synthetase
img GAD, Score=1000, Pubmed Id: 14656021, UMLKSK CUI: C0598608
HumanTPMT7172thiopurine S-methyltransferase
img GENERIF, Score=660, Pubmed Id: 11927101, UMLKSK CUI: C0598608
HumanTGFB17040transforming growth factor, beta 1
img GENERIF, Score=1000, Pubmed Id: 16896935, UMLKSK CUI: C0598608
HumanTCN26948transcobalamin II
img GENERIF, Score=660, Pubmed Id: 16820193, UMLKSK CUI: C0598608
HumanTCN16947transcobalamin I (vitamin B12 binding protein, R binder family)
img GENERIF, Score=1000, Pubmed Id: 12590948, UMLKSK CUI: C0598608
img GAD, Score=1000, Pubmed Id: 14656021, UMLKSK CUI: C0598608
HumanSREBF16720sterol regulatory element binding transcription factor 1
img GENERIF, Score=1000, Pubmed Id: 17344645, UMLKSK CUI: C0598608
HumanSHMT16470serine hydroxymethyltransferase 1 (soluble)
img GAD, Score=1000, Pubmed Id: 14656021, UMLKSK CUI: C0598608
HumanPROC5624protein C (inactivator of coagulation factors Va and VIIIa)
img GENERIF, Score=861, Pubmed Id: 12200374, UMLKSK CUI: C0598608
HumanNOS34846nitric oxide synthase 3 (endothelial cell)
img GENERIF, Score=1000, Pubmed Id: 15214944, UMLKSK CUI: C0598608
HumanMTRR45525-methyltetrahydrofolate-homocysteine methyltransferase reductase
img GENERIF, Score=1000, Pubmed Id: 12801615, UMLKSK CUI: C0598608
img GENERIF, Score=1000, Pubmed Id: 18792976, UMLKSK CUI: C0598608
HumanMTR45485-methyltetrahydrofolate-homocysteine methyltransferase
img GENERIF, Score=1000, Pubmed Id: 12068375, UMLKSK CUI: C0598608
HumanMTHFR4524methylenetetrahydrofolate reductase (NAD(P)H)
Click here to display 35 evidence detail records.
HumanFOLR12348folate receptor 1 (adult)
img GENERIF, Score=694, Pubmed Id: 14972645, UMLKSK CUI: C0598608
HumanFOLH12346folate hydrolase (prostate-specific membrane antigen) 1
img GAD, Score=1000, Pubmed Id: 11092759, UMLKSK CUI: C0598608
HumanF52153coagulation factor V (proaccelerin, labile factor)
img GENERIF, Score=861, Pubmed Id: 12200374, UMLKSK CUI: C0598608
HumanACE1636angiotensin I converting enzyme
img GENERIF, Score=1000, Pubmed Id: 17275478, UMLKSK CUI: C0598608
HumanCOMT1312catechol-O-methyltransferase
img GAD, Score=1000, Pubmed Id: 14656021, UMLKSK CUI: C0598608
HumanCBS875cystathionine-beta-synthase
img GENERIF, Score=1000, Pubmed Id: 17327360, UMLKSK CUI: C0598608
img GENERIF, Score=1000, Pubmed Id: 18792976, UMLKSK CUI: C0598608
HumanBHMT635betaine--homocysteine S-methyltransferase
img GENERIF, Score=795, Pubmed Id: 18498552, UMLKSK CUI: C0598608
HumanATF3467activating transcription factor 3
img GENERIF, Score=1000, Pubmed Id: 11726207, UMLKSK CUI: C0598608
HumanAPOE348apolipoprotein E
img GENERIF, Score=1000, Pubmed Id: 17420762, UMLKSK CUI: C0598608
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0598608Hyperhomocysteinemia0self