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Details
Link-It Detail - Disease - Gait Ataxia
Debug Stats
  • ### Total Build Time: 32 ms 46.122 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 320 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 185 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=1 ms Completed: 1 ms rowSize= 176 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=3 ms Completed: 3 ms rowSize= 986 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=2 ms Completed: 2 ms rowSize= 6.645 KB
  • CONCEPT_RELATIONSHIPS gt=13 ms Completed: 13 ms rowSize= 13.002 KB
  • CONCEPT_GENES gt=10 ms Completed: 10 ms rowSize= 23.667 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.146 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Gait Ataxia C0751837
Definition (1)
Awkward, uncoordinated walking.
Semantic Types (1)
Finding (T033)
Parents (2)
img Ataxia C0004134
img Gait Disorders, Neurologic C0751830
Ancestral Roots
RootRoot Plus OneDepthParent
img Pathological Conditions, Signs and Symptoms C0039058img Signs and Symptoms C00370886img Ataxia C0004134
img Nervous System Diseases C0027765img Neurologic Manifestations C00278545img Ataxia C0004134
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076826img Ataxia C0004134
img Pathological Conditions, Signs and Symptoms C0039058img Signs and Symptoms C00370885img Gait Disorders, Neurologic C0751830
img Nervous System Diseases C0027765img Neurologic Manifestations C00278544img Gait Disorders, Neurologic C0751830
Relationships (46)

Relation Types:
diso_​to_​anat : 3
diso_​to_​chem : 1
diso_​to_​diso : 40
diso_​to_​phen : 1
diso_​to_​phys : 1


Relationships:
none : 18
disease_​may_​have_​finding : 18
isa : 8
mapped_​to : 1
permuted_​term_​of : 1
Page Size
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  Page 1 of 2
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Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO8img Gait C0016928
DISO_to_PHEN8img genetic aspects C0017399
DISO_to_ANAT6img Cerebellum C0007765
DISO_to_CHEM6img Copper C0009968
DISO_to_ANAT5img Cerebellum C0007765
DISO_to_DISO5img Disease, Equine C0019940
DISO_to_DISO5img Polyneuropathies C0152025
DISO_to_DISO4img CEREBELLAR ABNORMALITIES C0007760
DISO_to_DISO4img Cerebrovascular accident C0038454
DISO_to_ANAT3img Mesencephalon C0025462
DISO_to_DISO3img A-78 DISORDERS OF EYE MOVEMENTS C0028850
DISO_to_DISO3img ATAXIA CEREBELLAR C0007758
DISO_to_DISO3img CEREBELLAR DEGENERATION PARANEOPL C0393534
DISO_to_DISO3img FRAGILE X MENTAL RETARDATION SYNDROME C0016667
DISO_to_DISO3img Paresthesia C0030554
DISO_to_DISO3img Sjogren's Syndrome C1527336
DISO_to_DISO3img Spinal Cord Diseases C0037928
DISO_to_PHYS3img Balance, Postural C1256755
DISO_to_DISOpermuted_term_ofimg ATAXIC GAIT C0751837
DISO_to_DISOdisease_may_have_findingimg Adult Brain Medulloblastoma C1332188
DISO_to_DISOdisease_may_have_findingimg Adult Medulloblastoma C0278876
DISO_to_DISOdisease_may_have_findingimg Anaplastic Medulloblastoma C2985220
DISO_to_DISOisaimg Ataxia, Sensory Gait C0751836
DISO_to_DISOdisease_may_have_findingimg Brain tumor, child: Medulloblastoma C0278510
DISO_to_DISOdisease_may_have_findingimg Cerebellar Neuroblastoma C1334970
Genes (28)

Species:
human : 28
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanC10orf256652chromosome 10 open reading frame 2
img OMIM, Score=1000, UMLKSK CUI: C0751837
HumanAPTX54840aprataxin
img OMIM, Score=1000, UMLKSK CUI: C0751837
HumanPDP154704pyruvate dehyrogenase phosphatase catalytic subunit 1
img OMIM, Score=1000, UMLKSK CUI: C0751837
HumanSACS26278spastic ataxia of Charlevoix-Saguenay (sacsin)
img OMIM, Score=1000, UMLKSK CUI: C0751837
HumanPLEKHG425894pleckstrin homology domain containing, family G (with RhoGef domain) member 4
img OMIM, Score=1000, UMLKSK CUI: C0751837
HumanATXN1025814ataxin 10
img OMIM, Score=1000, UMLKSK CUI: C0751837
HumanSETX23064senataxin
img OMIM, Score=1000, UMLKSK CUI: C0751837
HumanCUL4B8450cullin 4B
img OMIM, Score=1000, UMLKSK CUI: C0751837
HumanPLA2G68398phospholipase A2, group VI (cytosolic, calcium-independent)
img OMIM, Score=1000, UMLKSK CUI: C0751837
HumanTBP6908TATA box binding protein
img OMIM, Score=1000, UMLKSK CUI: C0751837
HumanCDKL56792cyclin-dependent kinase-like 5
img OMIM, Score=1000, UMLKSK CUI: C0751837
HumanSPTBN26712spectrin, beta, non-erythrocytic 2
img OMIM, Score=1000, UMLKSK CUI: C0751837
HumanSPG76687spastic paraplegia 7 (pure and complicated autosomal recessive)
img OMIM, Score=1000, UMLKSK CUI: C0751837
HumanPSAP5660prosaposin
img OMIM, Score=1000, UMLKSK CUI: C0751837
HumanPRNP5621prion protein
img OMIM, Score=1000, UMLKSK CUI: C0751837
HumanPRKCG5582protein kinase C, gamma
img OMIM, Score=1000, UMLKSK CUI: C0751837
HumanPOLG5428polymerase (DNA directed), gamma
img OMIM, Score=1000, UMLKSK CUI: C0751837
img OMIM, Score=1000, UMLKSK CUI: C0751837
HumanPMP225376peripheral myelin protein 22
img OMIM, Score=1000, UMLKSK CUI: C0751837
HumanOPHN14983oligophrenin 1
img OMIM, Score=1000, UMLKSK CUI: C0751837
HumanMPZ4359myelin protein zero
img OMIM, Score=1000, UMLKSK CUI: C0751837
HumanMECP24204methyl CpG binding protein 2 (Rett syndrome)
img OMIM, Score=1000, UMLKSK CUI: C0751837
HumanMAN2B14125mannosidase, alpha, class 2B, member 1
img OMIM, Score=1000, UMLKSK CUI: C0751837
HumanKCNC33748potassium voltage-gated channel, Shaw-related subfamily, member 3
img OMIM, Score=1000, UMLKSK CUI: C0751837
HumanITPR13708inositol 1,4,5-trisphosphate receptor, type 1
img OMIM, Score=1000, UMLKSK CUI: C0751837
HumanHLA-DQB13119
img OMIM, Score=1000, UMLKSK CUI: C0751837
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0751837Gait Ataxia0self