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Details
Link-It Detail - Disease - Friedreich Ataxia
Debug Stats
  • ### Total Build Time: 563 ms 34.452 KB
  • CONCEPT_NAME gt=14 ms Completed: 14 ms rowSize= 332 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 430 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=6 ms Completed: 6 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=23 ms Completed: 23 ms rowSize= 1,005 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=153 ms Completed: 153 ms rowSize= 6.734 KB
  • CONCEPT_RELATIONSHIPS gt=311 ms Completed: 311 ms rowSize= 13.394 KB
  • CONCEPT_GENES gt=43 ms Completed: 43 ms rowSize= 11.229 KB
  • CONCEPT_XREFS gt=8 ms Completed: 8 ms rowSize= 1.151 KB
  • CONCEPT_ANCILLARY gt=5 ms Completed: 5 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Friedreich Ataxia C0016719
Definition (1)
An autosomal recessive inherited disorder caused by mutations in the FXN gene. It is characterized by progressive degeneration of the nerve tissues of the spinal cord. The main symptoms include gait and balance disturbances, lack of limb coordination, and speech disturbances.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Spinocerebellar Degenerations C0037952
img Mitochondrial Diseases C0751651
Ancestral Roots
RootRoot Plus OneDepthParent
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076826img Spinocerebellar Degenerations C0037952
img Nervous System Diseases C0027765img Neurodegenerative Diseases C05248515img Spinocerebellar Degenerations C0037952
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Spinocerebellar Degenerations C0037952
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076825img Spinocerebellar Degenerations C0037952
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255174img Mitochondrial Diseases C0751651
Relationships (37)

Relation Types:
diso_​to_​anat : 5
diso_​to_​chem : 10
diso_​to_​diso : 20
diso_​to_​phen : 2


Relationships:
none : 24
associated_​with : 1
classifies : 2
clinically_​similar : 2
is_​associated_​anatomic_​site_​of : 2
mapped_​to : 2
permuted_​term_​of : 1
related_​to : 2
use : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN128img genetic aspects C0017399
DISO_to_PHEN96img genetic aspects C0017399
DISO_to_CHEM69img Iron Binding Proteins C1135611
DISO_to_CHEM69img Iron-Binding Proteins C1135611
DISO_to_DISO63img Complication Aspects C1171258
DISO_to_DISO45img Complication Aspects C1171258
DISO_to_CHEM39img Iron Binding Proteins C1135611
DISO_to_CHEM22img Antioxidants C0003402
DISO_to_CHEM21img Ubiquinone C0041536
DISO_to_DISO21img Trinucleotide Repeat Expansion C0524894
DISO_to_CHEM15img Antioxidants C0003402
DISO_to_DISO14img Expanded Trinucleotide Repeat C0524894
DISO_to_ANAT13img Mitochondria C0026237
DISO_to_CHEM12img Benzoquinones C0079017
DISO_to_ANAT10img Mitochondria C0026237
DISO_to_CHEM9img Iron C0302583
DISO_to_DISO9img Cardiomyopathy, Hypertrophic C0007194
DISO_to_DISO9img Oxidative Stress C0242606
DISO_to_ANAT8img In Blood C0005768
DISO_to_CHEM8img DNA C0012854
DISO_to_CHEM8img Iron C0302583
DISO_to_DISO8img Cardiomyopathies C0878544
DISO_to_DISO8img Disease Models, Animal C0012644
DISO_to_DISO8img Dysarthria C0013362
DISO_to_ANATis_associated_anatomic_site_ofimg Central Nervous System C0927232
Genes (4)

Species:
human : 4
SpeciesGeneGeneIdGene NameEvidence
HumanFTMT94033ferritin mitochondrial
img GENERIF, Score=734, Pubmed Id: 18815198, UMLKSK CUI: C0016719
HumanTNNT27139troponin T type 2 (cardiac)
img GENERIF, Score=1000, Pubmed Id: 11857753, UMLKSK CUI: C0016719
HumanDARC2532Duffy blood group, atypical chemokine receptor
img GAD, Score=1000, Pubmed Id: 15569072, UMLKSK CUI: C0016719
HumanFXN2395frataxin
img GENERIF, Score=861, Pubmed Id: 12354077, UMLKSK CUI: C0016719
img GENERIF, Score=734, Pubmed Id: 17262846, UMLKSK CUI: C0016719
img GAD, Score=1000, Pubmed Id: 15180699, UMLKSK CUI: C0016719
img GENERIF, Score=1000, Pubmed Id: 16857735, UMLKSK CUI: C0016719
img GENERIF, Score=840, Pubmed Id: 18597733, UMLKSK CUI: C0016719
img GENERIF, Score=1000, Pubmed Id: 11810294, UMLKSK CUI: C0016719
img GENERIF, Score=1000, Pubmed Id: 18697824, UMLKSK CUI: C0016719
img GENERIF, Score=1000, Pubmed Id: 15534367, UMLKSK CUI: C0016719
img GENERIF, Score=1000, Pubmed Id: 11823441, UMLKSK CUI: C0016719
img GENERIF, Score=1000, Pubmed Id: 14962663, UMLKSK CUI: C0016719
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0016719Friedreich Ataxia0self