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Details
Link-It Detail - Disease - Neuromuscular Manifestations
Debug Stats
  • ### Total Build Time: 116 ms 29.332 KB
  • CONCEPT_NAME gt=6 ms Completed: 6 ms rowSize= 354 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 258 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=2 ms Completed: 2 ms rowSize= 184 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 561 bytes
  • CONCEPT_CHILDREN gt=12 ms Completed: 12 ms rowSize= 4.317 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 2.819 KB
  • CONCEPT_RELATIONSHIPS gt=8 ms Completed: 8 ms rowSize= 1.163 KB
  • CONCEPT_GENES gt=83 ms Completed: 83 ms rowSize= 18.518 KB
  • CONCEPT_XREFS gt=4 ms Completed: 4 ms rowSize= 1.162 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Neuromuscular Manifestations C0752252
Definition (1)
Signs and symptoms associated with diseases of the muscle, neuromuscular junction, or peripheral nerves.
Semantic Types (1)
Sign or Symptom (T184)
Parents (1)
img Neurologic Manifestations C0027854
Children (10)
img Muscle Hypotonia C0026827
img Muscle Cramp C0026821
img Myotonia C0027125
img Tetany C0039621
img Muscle Weakness C0151786
img Muscular Atrophy C0026846
img Muscle Hypertonia C0026826
img Myokymia C0684219
img Spasm C0037763
img Fasciculation C0015644
Ancestral Roots
RootRoot Plus OneDepthParent
img Nervous System Diseases C0027765img Neurologic Manifestations C00278543img Neurologic Manifestations C0027854
img Pathological Conditions, Signs and Symptoms C0039058img Signs and Symptoms C00370884img Neurologic Manifestations C0027854
Relationships (1)

Relation Types:
diso_​to_​diso : 1


Relationships:
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOpermuted_term_ofimg Manifestation, Neuromuscular C0752252
Genes (442)

Species:
human : 442
Page Size
Current 25
  Page 1 of 18
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanCD24100133941CD24 molecule
INFERRED, Score=800, UMLKSK CUI: C0752252
HumanD2HGDH728294D-2-hydroxyglutarate dehydrogenase
INFERRED, Score=800, UMLKSK CUI: C0752252
HumanNDUFS7374291NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
INFERRED, Score=800, UMLKSK CUI: C0752252
HumanSLC6A19340024solute carrier family 6 (neutral amino acid transporter), member 19
INFERRED, Score=800, UMLKSK CUI: C0752252
HumanMMAB326625methylmalonic aciduria (cobalamin deficiency) cblB type
INFERRED, Score=800, UMLKSK CUI: C0752252
HumanBRWD3254065bromodomain and WD repeat domain containing 3
INFERRED, Score=800, UMLKSK CUI: C0752252
HumanUBR1197131ubiquitin protein ligase E3 component n-recognin 1
INFERRED, Score=800, UMLKSK CUI: C0752252
HumanARX170302aristaless related homeobox
INFERRED, Score=800, UMLKSK CUI: C0752252
HumanMMAA166785methylmalonic aciduria (cobalamin deficiency) cblA type
INFERRED, Score=800, UMLKSK CUI: C0752252
HumanVPS13B157680vacuolar protein sorting 13 homolog B (yeast)
INFERRED, Score=800, UMLKSK CUI: C0752252
HumanSLC34A3142680solute carrier family 34 (type II sodium/phosphate contransporter), member 3
INFERRED, Score=800, UMLKSK CUI: C0752252
HumanTRPM6140803transient receptor potential cation channel, subfamily M, member 6
INFERRED, Score=800, UMLKSK CUI: C0752252
HumanC8orf38137682
INFERRED, Score=800, UMLKSK CUI: C0752252
HumanCYP2R1120227cytochrome P450, family 2, subfamily R, polypeptide 1
INFERRED, Score=800, UMLKSK CUI: C0752252
HumanGRDX117189Graves disease, susceptibility to, X-linked
INFERRED, Score=800, UMLKSK CUI: C0752252
HumanFBXO32114907F-box protein 32
INFERRED, Score=800, UMLKSK CUI: C0752252
HumanNDUFAF291942NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
INFERRED, Score=800, UMLKSK CUI: C0752252
HumanTMEM6791147transmembrane protein 67
INFERRED, Score=800, UMLKSK CUI: C0752252
HumanGFM185476G elongation factor, mitochondrial 1
INFERRED, Score=800, UMLKSK CUI: C0752252
HumanATCAY85300ataxia, cerebellar, Cayman type
INFERRED, Score=800, UMLKSK CUI: C0752252
HumanTRIM6384676tripartite motif containing 63, E3 ubiquitin protein ligase
INFERRED, Score=800, UMLKSK CUI: C0752252
HumanPHF684295PHD finger protein 6
INFERRED, Score=800, UMLKSK CUI: C0752252
HumanPUS180324pseudouridylate synthase 1
INFERRED, Score=800, UMLKSK CUI: C0752252
HumanSPG1180208spastic paraplegia 11 (autosomal recessive)
INFERRED, Score=800, UMLKSK CUI: C0752252
HumanOPA380207optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
INFERRED, Score=800, UMLKSK CUI: C0752252
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0752252Neuromuscular Manifestations0self