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Details
Link-It Detail - Disease - Neuromuscular Diseases
Debug Stats
  • ### Total Build Time: 273 ms 40.147 KB
  • CONCEPT_NAME gt=6 ms Completed: 6 ms rowSize= 396 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=1 ms Completed: 1 ms rowSize= 415 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= 559 bytes
  • CONCEPT_CHILDREN gt=16 ms Completed: 16 ms rowSize= 4.427 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=1 ms Completed: 1 ms rowSize= 1.115 KB
  • CONCEPT_RELATIONSHIPS gt=114 ms Completed: 114 ms rowSize= 13.325 KB
  • CONCEPT_GENES gt=129 ms Completed: 129 ms rowSize= 18.575 KB
  • CONCEPT_XREFS gt=5 ms Completed: 5 ms rowSize= 1.156 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Neuromuscular Diseases C0027868
A-50 MYONEURAL DISORDERS
Definition (1)
A general term encompassing lower MOTOR NEURON DISEASE; PERIPHERAL NERVOUS SYSTEM DISEASES; and certain MUSCULAR DISEASES. Manifestations include MUSCLE WEAKNESS; FASCICULATION; muscle ATROPHY; SPASM; MYOKYMIA; MUSCLE HYPERTONIA, myalgias, and MUSCLE HYPOTONIA.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Nervous System Diseases C0027765
Children (10)
img Peripheral Nervous System Diseases C0031117
img Neuromuscular Junction Diseases C0751950
img Muscular Diseases C0026848
img Isaacs Syndrome C0242287
img Poliomyelitis C0032371
img Stiff-Person Syndrome C0085292
img Muscular Atrophy, Spinal C0026847
img Fatigue Syndrome, Chronic C0015674
img Muscular Disorders, Atrophic C0752352
img Motor Neuron Disease C0085084
Ancestral Roots
RootRoot Plus OneDepthParent
img Nervous System Diseases C00277652img Nervous System Diseases C0027765
Relationships (85)

Relation Types:
diso_​to_​anat : 12
diso_​to_​chem : 7
diso_​to_​diso : 62
diso_​to_​phen : 2
diso_​to_​phys : 2


Relationships:
none : 65
classifies : 1
isa : 5
mapped_​to : 4
related_​to : 9
use : 1
Page Size
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Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO183img Complication Aspects C1171258
DISO_to_DISO141img Complication Aspects C1171258
DISO_to_PHEN94img genetic aspects C0017399
DISO_to_PHEN84img genetic aspects C0017399
DISO_to_ANAT67img Muscle, Skeletal C0242692
DISO_to_ANAT59img Muscle, Skeletal C0242692
DISO_to_DISO34img Respiratory Insufficiency C0035229
DISO_to_DISO33img Scoliosis C0036439
DISO_to_DISO31img Respiratory Insufficiency C0035229
DISO_to_DISO26img chemically induced C0007994
DISO_to_DISO25img chemically induced C0007994
DISO_to_DISO18img DIS OCCUP C0028797
DISO_to_ANAT17img In Blood C0005768
DISO_to_DISO17img Muscle Weakness C0151786
DISO_to_DISO17img Muscular Diseases C0026848
DISO_to_DISO17img Scoliosis C0036439
DISO_to_DISO15img Muscular Diseases C0026848
DISO_to_ANAT13img In Blood C0005768
DISO_to_ANAT13img Motor Neurons C0026609
DISO_to_ANAT13img Respiratory Muscles C0035231
DISO_to_CHEM13img Creatine Kinase C0010287
DISO_to_DISO13img Critical Illness C0010340
DISO_to_DISO13img Pain C0030193
DISO_to_DISO12img Cumulative Trauma Disorders C0035127
DISO_to_DISO12img Respiration Disorders C0035204
Genes (758)

Species:
human : 758
Page Size
Current 25
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanCD24100133941CD24 molecule
INFERRED, Score=800, UMLKSK CUI: C0027868
HumanCCR2729230chemokine (C-C motif) receptor 2
INFERRED, Score=800, UMLKSK CUI: C0027868
HumanPABPC1P2728773poly(A) binding protein, cytoplasmic 1 pseudogene 2
INFERRED, Score=800, UMLKSK CUI: C0027868
HumanD2HGDH728294D-2-hydroxyglutarate dehydrogenase
INFERRED, Score=800, UMLKSK CUI: C0027868
HumanLOC647859647859occludin pseudogene
INFERRED, Score=800, UMLKSK CUI: C0027868
HumanLOC643387643387TAR DNA binding protein pseudogene
INFERRED, Score=800, UMLKSK CUI: C0027868
HumanFRG2448831FSHD region gene 2
INFERRED, Score=800, UMLKSK CUI: C0027868
HumanNDUFS7374291NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
INFERRED, Score=800, UMLKSK CUI: C0027868
HumanDOK7285489docking protein 7
INFERRED, Score=800, UMLKSK CUI: C0027868
HumanALS2CL259173ALS2 C-terminal like
INFERRED, Score=800, UMLKSK CUI: C0027868
HumanMYAS1246750Myasthenia gravis with thymus hyperplasia
INFERRED, Score=800, UMLKSK CUI: C0027868
HumanKIF6221458kinesin family member 6
INFERRED, Score=800, UMLKSK CUI: C0027868
HumanARX170302aristaless related homeobox
INFERRED, Score=800, UMLKSK CUI: C0027868
HumanLIX1167410Lix1 homolog (chicken)
INFERRED, Score=800, UMLKSK CUI: C0027868
HumanSPRED1161742sprouty-related, EVH1 domain containing 1
INFERRED, Score=800, UMLKSK CUI: C0027868
HumanESCO2157570establishment of sister chromatid cohesion N-acetyltransferase 2
INFERRED, Score=800, UMLKSK CUI: C0027868
HumanPTPRVP148713protein tyrosine phosphatase, receptor type, V, pseudogene
INFERRED, Score=800, UMLKSK CUI: C0027868
HumanSLC34A3142680solute carrier family 34 (type II sodium/phosphate contransporter), member 3
INFERRED, Score=800, UMLKSK CUI: C0027868
HumanC8orf38137682
INFERRED, Score=800, UMLKSK CUI: C0027868
HumanSPATA18132671spermatogenesis associated 18
INFERRED, Score=800, UMLKSK CUI: C0027868
HumanUHMK1127933U2AF homology motif (UHM) kinase 1
INFERRED, Score=800, UMLKSK CUI: C0027868
HumanNIPA1123606non imprinted in Prader-Willi/Angelman syndrome 1
INFERRED, Score=800, UMLKSK CUI: C0027868
HumanFGD4121512FYVE, RhoGEF and PH domain containing 4
INFERRED, Score=800, UMLKSK CUI: C0027868
HumanCYP2R1120227cytochrome P450, family 2, subfamily R, polypeptide 1
INFERRED, Score=800, UMLKSK CUI: C0027868
HumanZFYVE27118813zinc finger, FYVE domain containing 27
INFERRED, Score=800, UMLKSK CUI: C0027868
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0027868Neuromuscular Diseases0self