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Details
Link-It Detail - Disease - PCH2
Debug Stats
  • ### Total Build Time: 93 ms 12.404 KB
  • CONCEPT_NAME gt=4 ms Completed: 4 ms rowSize= 306 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_DEFINITION gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_SYNONYM gt=NONE 1 ms Completed: 1 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= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 7 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 15 bytes
  • CONCEPT_RELATIONSHIPS gt=68 ms Completed: 68 ms rowSize= 9.320 KB
  • CONCEPT_GENES gt=11 ms Completed: 11 ms rowSize= 1.576 KB
  • CONCEPT_XREFS gt=8 ms Completed: 8 ms rowSize= 1.139 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
PCH2 C1848526
Relationships (23)

Relation Types:
diso_​to_​diso : 23


Relationships:
alias_​of : 1
manifestation_​of : 22
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOmanifestation_ofimg Abnormal visual pursuit C1848530
DISO_to_DISOmanifestation_ofimg Absence of transverse pontine fibers C3279468
DISO_to_DISOmanifestation_ofimg Caused by mutation in the S. cerevisiae homolog of tRNA splicing endonuclease 54 (TSEN54, 608755.0001) C3278122
DISO_to_DISOmanifestation_ofimg Cerebellar cortex shows normal layers C3278115
DISO_to_DISOmanifestation_ofimg Cerebellar hypoplasia, particularly of the hemispheres C3279466
DISO_to_DISOmanifestation_ofimg Death in childhood may occur C1848531
DISO_to_DISOmanifestation_ofimg Developmental delay, profound C1850344
DISO_to_DISOmanifestation_ofimg Diffuse cerebral gliosis C3279467
DISO_to_DISOmanifestation_ofimg Extrapyramidal dyskinesia C1848528
DISO_to_DISOmanifestation_ofimg Feeding poor C0576456
DISO_to_DISOmanifestation_ofimg Hypertonia at birth C3278120
DISO_to_DISOmanifestation_ofimg Inability to sit or control head C3279465
DISO_to_DISOmanifestation_ofimg Loss of Purkinje cells C3278116
DISO_to_DISOmanifestation_ofimg Microcephaly, progressive C1836046
DISO_to_DISOmanifestation_ofimg Muscle Spasticity C0026838
DISO_to_DISOmanifestation_ofimg Onset at birth C1836142
DISO_to_DISOmanifestation_ofimg Opisthotonus C0151818
DISO_to_DISOalias_ofimg PCH2 C1848526
DISO_to_DISOmanifestation_ofimg Periventricular white matter abnormalities C2673431
DISO_to_DISOmanifestation_ofimg Pontine hypoplasia C1848529
DISO_to_DISOmanifestation_ofimg Poor suck C1837142
DISO_to_DISOmanifestation_ofimg Restlessness at birth C1848527
DISO_to_DISOmanifestation_ofimg Seizures C0036572
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanTSEN54283989TSEN54 tRNA splicing endonuclease subunit
img GENERIF, Score=1000, Pubmed Id: 18711368, UMLKSK CUI: C1848526
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1848526PCH20self