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Details
Link-It Detail - Disease - Charcot-Marie-Tooth Disease
Debug Stats
  • ### Total Build Time: 246 ms 88.604 KB
  • CONCEPT_NAME gt=12 ms Completed: 12 ms rowSize= 352 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 726 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= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=11 ms Completed: 11 ms rowSize= 575 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=45 ms Completed: 45 ms rowSize= 6.812 KB
  • CONCEPT_RELATIONSHIPS gt=138 ms Completed: 138 ms rowSize= 14.072 KB
  • CONCEPT_GENES gt=36 ms Completed: 36 ms rowSize= 64.726 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.161 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Charcot-Marie-Tooth Disease C0007959
Definition (1)
A hereditary motor and sensory neuropathy transmitted most often as an autosomal dominant trait and characterized by progressive distal wasting and loss of reflexes in the muscles of the legs (and occasionally involving the arms). Onset is usually in the second to fourth decade of life. This condition has been divided into two subtypes, hereditary motor and sensory neuropathy (HMSN) types I and II. HMSN I is associated with abnormal nerve conduction velocities and nerve hypertrophy, features not seen in HMSN II. (Adams et al., Principles of Neurology, 6th ed, p1343)
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Hereditary Sensory and Motor Neuropathy C0027888
Ancestral Roots
RootRoot Plus OneDepthParent
img Nervous System Diseases C0027765img Neuromuscular Diseases C00278686img Hereditary Sensory and Motor Neuropathy C0027888
img Nervous System Diseases C0027765img Neurodegenerative Diseases C05248515img Hereditary Sensory and Motor Neuropathy C0027888
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Hereditary Sensory and Motor Neuropathy C0027888
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007685img Hereditary Sensory and Motor Neuropathy C0027888
img Nervous System Diseases C0027765img Nervous System Malformations C04975524img Hereditary Sensory and Motor Neuropathy C0027888
Relationships (92)

Relation Types:
diso_​to_​anat : 9
diso_​to_​chem : 17
diso_​to_​diso : 55
diso_​to_​phen : 2
diso_​to_​phys : 9


Relationships:
none : 44
classifies : 2
is_​associated_​anatomic_​site_​of : 1
is_​primary_​anatomic_​site_​of_​disease : 1
isa : 1
mapped_​to : 39
permuted_​term_​of : 1
related_​to : 2
used_​for : 1
Page Size
Current 25
  Page 1 of 4
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN393img genetic aspects C0017399
DISO_to_PHEN351img genetic aspects C0017399
DISO_to_DISO109img Complication Aspects C1171258
DISO_to_PHYS108img Mutation C0026882
DISO_to_PHYS94img Mutation C0026882
DISO_to_DISO63img Complication Aspects C1171258
DISO_to_PHYS41img Missense Mutation C0599155
DISO_to_CHEM39img Membrane Associated Proteins C0025252
DISO_to_CHEM37img Mitochondrial Protein C0949610
DISO_to_CHEM37img Myelin P0 Protein C0071316
DISO_to_CHEM36img Connexins C0110611
DISO_to_CHEM35img Myelin Proteins C0026972
DISO_to_CHEM34img Myelin P0 Protein C0071316
DISO_to_CHEM31img Myelin Proteins C0026972
DISO_to_ANAT30img Axon C0004461
DISO_to_CHEM30img Nerve Tissue Proteins C0027759
DISO_to_CHEM27img Nerve Tissue Proteins C0027759
DISO_to_PHYS25img GENET PREDISPOSITION C0314657
DISO_to_CHEM20img Membrane Associated Proteins C0025252
DISO_to_ANAT19img Peripheral Nerves C0031119
DISO_to_PHYS19img Mutation, Point C0162735
DISO_to_ANAT18img Peripheral Nerves C0031119
DISO_to_CHEM18img NFP C0085418
DISO_to_CHEM18img Neurofilament Proteins C0085418
DISO_to_CHEM18img Protein Tyrosine Phosphatase C0085536
Genes (30)

Species:
human : 30
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanFGD4121512FYVE, RhoGEF and PH domain containing 4
img GENERIF, Score=717, Pubmed Id: 17564959, UMLKSK CUI: C0007959
img GENERIF, Score=694, Pubmed Id: 17564972, UMLKSK CUI: C0007959
HumanSBF281846SET binding factor 2
img GENERIF, Score=937, Pubmed Id: 12687498, UMLKSK CUI: C0007959
img GENERIF, Score=1000, Pubmed Id: 15477569, UMLKSK CUI: C0007959
img GENERIF, Score=710, Pubmed Id: 15998640, UMLKSK CUI: C0007959
HumanPRX57716periaxin
img GENERIF, Score=901, Pubmed Id: 15197604, UMLKSK CUI: C0007959
img GAD, Score=1000, Pubmed Id: 11835375, UMLKSK CUI: C0007959
img OMIM, Score=814, UMLKSK CUI: C0007959
HumanGDAP154332ganglioside induced differentiation associated protein 1
img GAD, Score=743, Pubmed Id: 12566285, UMLKSK CUI: C0007959
img GENERIF, Score=901, Pubmed Id: 18231710, UMLKSK CUI: C0007959
img GENERIF, Score=734, Pubmed Id: 18421898, UMLKSK CUI: C0007959
img GENERIF, Score=1000, Pubmed Id: 12868504, UMLKSK CUI: C0007959
img GENERIF, Score=901, Pubmed Id: 18492089, UMLKSK CUI: C0007959
img GENERIF, Score=861, Pubmed Id: 18504680, UMLKSK CUI: C0007959
img GENERIF, Score=679, Pubmed Id: 17433678, UMLKSK CUI: C0007959
img GENERIF, Score=1000, Pubmed Id: 16607474, UMLKSK CUI: C0007959
img GAD, Score=882, Pubmed Id: 14561495, UMLKSK CUI: C0007959
img GAD, Score=1000, Pubmed Id: 15019704, UMLKSK CUI: C0007959
HumanBSCL226580Berardinelli-Seip congenital lipodystrophy 2 (seipin)
img OMIM, Score=716, UMLKSK CUI: C0007959
HumanHSPB826353heat shock 22kDa protein 8
img OMIM, Score=716, UMLKSK CUI: C0007959
HumanKIF1B23095kinesin family member 1B
img GAD, Score=1000, Pubmed Id: 11835375, UMLKSK CUI: C0007959
HumanSPTLC110558serine palmitoyltransferase, long chain base subunit 1
img OMIM, Score=760, UMLKSK CUI: C0007959
HumanNDRG110397N-myc downstream regulated 1
img GENERIF, Score=771, Pubmed Id: 12872253, UMLKSK CUI: C0007959
img GAD, Score=1000, Pubmed Id: 12872253, UMLKSK CUI: C0007959
img GAD, Score=1000, Pubmed Id: 11835375, UMLKSK CUI: C0007959
HumanKIF20A10112kinesin family member 20A
img GENERIF, Score=1000, Pubmed Id: 12469216, UMLKSK CUI: C0007959
HumanMFN29927mitofusin 2
img GENERIF, Score=679, Pubmed Id: 17940179, UMLKSK CUI: C0007959
img GENERIF, Score=717, Pubmed Id: 18425620, UMLKSK CUI: C0007959
img GENERIF, Score=861, Pubmed Id: 17309650, UMLKSK CUI: C0007959
img OMIM, Score=716, UMLKSK CUI: C0007959
HumanLITAF9516lipopolysaccharide-induced TNF factor
img GENERIF, Score=694, Pubmed Id: 15122712, UMLKSK CUI: C0007959
img GENERIF, Score=1000, Pubmed Id: 15776429, UMLKSK CUI: C0007959
img GENERIF, Score=756, Pubmed Id: 16373087, UMLKSK CUI: C0007959
HumanMTMR28898myotubularin related protein 2
img GAD, Score=926, Pubmed Id: 12398840, UMLKSK CUI: C0007959
HumanYARS8565tyrosyl-tRNA synthetase
img GENERIF, Score=861, Pubmed Id: 16429158, UMLKSK CUI: C0007959
HumanRAB7A7879RAB7A, member RAS oncogene family
img GENERIF, Score=668, Pubmed Id: 12545426, UMLKSK CUI: C0007959
HumanTNNT17138troponin T type 1 (skeletal, slow)
img GENERIF, Score=877, Pubmed Id: 18579801, UMLKSK CUI: C0007959
HumanSOX106663SRY (sex determining region Y)-box 10
img OMIM, Score=882, UMLKSK CUI: C0007959
HumanPRPH5630peripherin
img GAD, Score=1000, Pubmed Id: 11835375, UMLKSK CUI: C0007959
HumanPRB45545proline-rich protein BstNI subfamily 4
img GENERIF, Score=1000, Pubmed Id: 17294201, UMLKSK CUI: C0007959
HumanPMP225376peripheral myelin protein 22
img GENERIF, Score=1000, Pubmed Id: 18698610, UMLKSK CUI: C0007959
img OMIM, Score=882, UMLKSK CUI: C0007959
img GAD, Score=1000, Pubmed Id: 15050444, UMLKSK CUI: C0007959
img GAD, Score=1000, Pubmed Id: 11545686, UMLKSK CUI: C0007959
img GAD, Score=1000, Pubmed Id: 11835375, UMLKSK CUI: C0007959
img OMIM, Score=814, UMLKSK CUI: C0007959
img OMIM, Score=716, UMLKSK CUI: C0007959
HumanNEFL4747neurofilament, light polypeptide
img GAD, Score=743, Pubmed Id: 14733962, UMLKSK CUI: C0007959
img GENERIF, Score=756, Pubmed Id: 12477167, UMLKSK CUI: C0007959
img GENERIF, Score=734, Pubmed Id: 15654615, UMLKSK CUI: C0007959
img GENERIF, Score=710, Pubmed Id: 16452125, UMLKSK CUI: C0007959
img GENERIF, Score=673, Pubmed Id: 17620486, UMLKSK CUI: C0007959
HumanMPZ4359myelin protein zero
img GENERIF, Score=1000, Pubmed Id: 16279991, UMLKSK CUI: C0007959
img OMIM, Score=882, UMLKSK CUI: C0007959
img GAD, Score=666, Pubmed Id: 10071056, UMLKSK CUI: C0007959
img GAD, Score=1000, Pubmed Id: 11835375, UMLKSK CUI: C0007959
img GAD, Score=1000, Pubmed Id: 15050444, UMLKSK CUI: C0007959
img GAD, Score=1000, Pubmed Id: 11801400, UMLKSK CUI: C0007959
img GAD, Score=1000, Pubmed Id: 11545686, UMLKSK CUI: C0007959
img GAD, Score=695, Pubmed Id: 12940837, UMLKSK CUI: C0007959
img GENERIF, Score=1000, Pubmed Id: 17602703, UMLKSK CUI: C0007959
img OMIM, Score=814, UMLKSK CUI: C0007959
img GENERIF, Score=919, Pubmed Id: 15036333, UMLKSK CUI: C0007959
img GENERIF, Score=717, Pubmed Id: 16398147, UMLKSK CUI: C0007959
HumanMPO4353myeloperoxidase
img GAD, Score=1000, Pubmed Id: 11080237, UMLKSK CUI: C0007959
HumanLMNA4000lamin A/C
img GENERIF, Score=845, Pubmed Id: 12467734, UMLKSK CUI: C0007959
img GENERIF, Score=717, Pubmed Id: 18549403, UMLKSK CUI: C0007959
img GAD, Score=1000, Pubmed Id: 14607793, UMLKSK CUI: C0007959
img GENERIF, Score=1000, Pubmed Id: 14985400, UMLKSK CUI: C0007959
img GENERIF, Score=861, Pubmed Id: 11799477, UMLKSK CUI: C0007959
HumanHSPB13315heat shock 27kDa protein 1
img GAD, Score=1000, Pubmed Id: 16087758, UMLKSK CUI: C0007959
img OMIM, Score=760, UMLKSK CUI: C0007959
img GAD, Score=1000, Pubmed Id: 16215937, UMLKSK CUI: C0007959
img GENERIF, Score=1000, Pubmed Id: 15122254, UMLKSK CUI: C0007959
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0007959Charcot-Marie-Tooth Disease0self