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Details
Link-It Detail - Disease - Nervous System Malformations
Debug Stats
  • ### Total Build Time: 360 ms 43.868 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= 273 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= 247 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=15 ms Completed: 15 ms rowSize= 1,001 bytes
  • CONCEPT_CHILDREN gt=14 ms Completed: 14 ms rowSize= 4.920 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=1 ms Completed: 1 ms rowSize= 2.841 KB
  • CONCEPT_RELATIONSHIPS gt=244 ms Completed: 244 ms rowSize= 14.153 KB
  • CONCEPT_GENES gt=65 ms Completed: 65 ms rowSize= 18.934 KB
  • CONCEPT_XREFS gt=13 ms Completed: 13 ms rowSize= 1.162 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Nervous System Malformations C0497552
Definition (1)
Structural abnormalities of the central or peripheral nervous system resulting primarily from defects of embryogenesis.
Semantic Types (2)
Disease or Syndrome (T047)
Congenital Abnormality (T019)
Parents (2)
img Congenital Abnormalities C0000768
img Nervous System Diseases C0027765
Children (11)
img Malformations of Cortical Development C1955869
img Hereditary Sensory and Autonomic Neuropathies C0027889
img Septo-Optic Dysplasia C0338503
img Hydranencephaly C0020225
img Hereditary Sensory and Motor Neuropathy C0027888
img Dandy-Walker Syndrome C0010964
img Central Nervous System Vascular Malformations C0752155
img Central Nervous System Cysts C0349606
img Agenesis of Corpus Callosum C0175754
img Neural Tube Defects C0027794
img Holoprosencephaly C0079541
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007683img Congenital Abnormalities C0000768
img Nervous System Diseases C0027765img Congenital Abnormalities C00007682img Nervous System Diseases C0027765
Relationships (154)

Relation Types:
diso_​to_​anat : 22
diso_​to_​chem : 4
diso_​to_​diso : 116
diso_​to_​phen : 2
diso_​to_​phys : 10


Relationships:
none : 57
associated_​with : 1
classified_​as : 19
classifies : 1
isa : 32
location_​of : 1
mapped_​to : 42
permuted_​term_​of : 1
Page Size
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Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN150img genetic aspects C0017399
DISO_to_PHEN99img genetic aspects C0017399
DISO_to_ANAT89img Cerebral Cortex C0007776
DISO_to_DISO71img Complication Aspects C1171258
DISO_to_ANAT65img Brain C0006104
DISO_to_DISO57img Complication Aspects C1171258
DISO_to_ANAT46img Brain C0006104
DISO_to_DISO39img Epilepsy C0014544
DISO_to_ANAT38img Neurons C0027882
DISO_to_ANAT37img Cerebral Cortex C0007776
DISO_to_DISO24img Brain Diseases C0006111
DISO_to_DISO21img chemically induced C0007994
DISO_to_DISO20img Abnormalities, Multiple C0000772
DISO_to_ANAT18img Cerebellum C0007765
DISO_to_PHYS18img GENET PREDISPOSITION C0314657
DISO_to_ANAT17img Central Nervous System C0927232
DISO_to_ANAT17img Cerebellum C0007765
DISO_to_DISO17img Choristoma C0008519
DISO_to_DISO17img chemically induced C0007994
DISO_to_DISO16img Agenesis of Corpus Callosum C0175754
DISO_to_CHEM15img TRANSCRIPTION FACTOR C0040648
DISO_to_DISO15img Agenesis of Corpus Callosum C0175754
DISO_to_PHYS15img Mutation C0026882
DISO_to_DISO14img Brain Diseases C0006111
DISO_to_DISO14img Epilepsy C0014544
Genes (282)

Species:
human : 282
Page Size
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  Page 1 of 12
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanGTF2H5404672general transcription factor IIH, polypeptide 5
INFERRED, Score=800, UMLKSK CUI: C0497552
HumanFREM2341640FRAS1 related extracellular matrix protein 2
INFERRED, Score=800, UMLKSK CUI: C0497552
HumanTSEN54283989TSEN54 tRNA splicing endonuclease subunit
INFERRED, Score=800, UMLKSK CUI: C0497552
HumanASPM259266asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
INFERRED, Score=800, UMLKSK CUI: C0497552
HumanHYLS1219844hydrolethalus syndrome 1
INFERRED, Score=800, UMLKSK CUI: C0497552
HumanUBR1197131ubiquitin protein ligase E3 component n-recognin 1
INFERRED, Score=800, UMLKSK CUI: C0497552
HumanNEWENTRY192343Record to support submission of GeneRIFs for a gene not in Gene (human; man).
INFERRED, Score=800, UMLKSK CUI: C0497552
HumanARX170302aristaless related homeobox
INFERRED, Score=800, UMLKSK CUI: C0497552
HumanVPS13B157680vacuolar protein sorting 13 homolog B (yeast)
INFERRED, Score=800, UMLKSK CUI: C0497552
HumanESCO2157570establishment of sister chromatid cohesion N-acetyltransferase 2
INFERRED, Score=800, UMLKSK CUI: C0497552
HumanEVC2132884Ellis van Creveld syndrome 2
INFERRED, Score=800, UMLKSK CUI: C0497552
HumanNIPA1123606non imprinted in Prader-Willi/Angelman syndrome 1
INFERRED, Score=800, UMLKSK CUI: C0497552
HumanFGD4121512FYVE, RhoGEF and PH domain containing 4
INFERRED, Score=800, UMLKSK CUI: C0497552
HumanZFYVE27118813zinc finger, FYVE domain containing 27
INFERRED, Score=800, UMLKSK CUI: C0497552
HumanGFM185476G elongation factor, mitochondrial 1
INFERRED, Score=800, UMLKSK CUI: C0497552
HumanPHF684295PHD finger protein 6
INFERRED, Score=800, UMLKSK CUI: C0497552
HumanZIC484107Zic family member 4
INFERRED, Score=800, UMLKSK CUI: C0497552
HumanSBF281846SET binding factor 2
INFERRED, Score=800, UMLKSK CUI: C0497552
HumanVANGL181839VANGL planar cell polarity protein 1
INFERRED, Score=800, UMLKSK CUI: C0497552
HumanAMN81693amnion associated transmembrane protein
img GENERIF, Score=923, Pubmed Id: 17979745, UMLKSK CUI: C0497552
HumanPUS180324pseudouridylate synthase 1
INFERRED, Score=800, UMLKSK CUI: C0497552
HumanSPG1180208spastic paraplegia 11 (autosomal recessive)
INFERRED, Score=800, UMLKSK CUI: C0497552
HumanFRAS180144Fraser syndrome 1
INFERRED, Score=800, UMLKSK CUI: C0497552
HumanEHMT179813euchromatic histone-lysine N-methyltransferase 1
INFERRED, Score=800, UMLKSK CUI: C0497552
HumanSLC25A2279751solute carrier family 25 (mitochondrial carrier: glutamate), member 22
INFERRED, Score=800, UMLKSK CUI: C0497552
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0497552Nervous System Malformations0self