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Details
Link-It Detail - Jax Mouse Phenotype - Purkinje cell degeneration
Debug Stats
  • ### Total Build Time: 674 ms 24.773 KB
  • CONCEPT_NAME gt=12 ms Completed: 12 ms rowSize= 380 bytes
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  • CONCEPT_RELATIONSHIPS gt=2 ms Completed: 2 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=571 ms Completed: 571 ms rowSize= 17.494 KB
  • CONCEPT_XREFS gt=4 ms Completed: 4 ms rowSize= 1.164 KB
  • CONCEPT_ANCILLARY gt=2 ms Completed: 2 ms rowSize= 14 bytes
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Jax Mouse Phenotype (1)
Purkinje cell degeneration MP:0000876
Definition (1)
a retrogressive impairment of function or destruction of the large neurons located at the interface of the molecular and internal granule layers of the cerebellar cortex
Parents (2)
img abnormal Purkinje cell morphology MP:0000877
img neuron degeneration MP:0003224
Ancestral Roots
RootRoot Plus OneDepthParent
img mammalian phenotype MP:0000001img nervous system phenotype MP:00036316img abnormal Purkinje cell morphology MP:0000877
img mammalian phenotype MP:0000001img nervous system phenotype MP:000363112img abnormal Purkinje cell morphology MP:0000877
img mammalian phenotype MP:0000001img nervous system phenotype MP:00036316img neuron degeneration MP:0003224
Genes (57)

Species:
human : 57
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Current 25
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SpeciesGeneGeneIdGene NameEvidence
HumanEDARADD128178EDAR-associated death domain
Click here to display 124 evidence detail records.
HumanSIL164374SIL1 nucleotide exchange factor
Click here to display 124 evidence detail records.
HumanGJC257165gap junction protein, gamma 2, 47kDa
Click here to display 124 evidence detail records.
HumanMFN155669mitofusin 1
Click here to display 124 evidence detail records.
HumanAGTPBP123287ATP/GTP binding protein 1
Click here to display 124 evidence detail records.
HumanAFG3L210939AFG3 ATPase family member 3-like 2 (S. cerevisiae)
Click here to display 124 evidence detail records.
HumanCERS110715ceramide synthase 1
Click here to display 124 evidence detail records.
HumanNPC210577Niemann-Pick disease, type C2
Click here to display 124 evidence detail records.
HumanATG710533autophagy related 7
Click here to display 124 evidence detail records.
HumanHYOU110525hypoxia up-regulated 1
Click here to display 124 evidence detail records.
HumanUBE4B10277ubiquitination factor E4B
Click here to display 124 evidence detail records.
HumanMFN29927mitofusin 2
Click here to display 124 evidence detail records.
HumanATG59474autophagy related 5
Click here to display 124 evidence detail records.
HumanQKI9444QKI, KH domain containing, RNA binding
Click here to display 124 evidence detail records.
HumanKL9365klotho
Click here to display 124 evidence detail records.
HumanCACNA2D29254calcium channel, voltage-dependent, alpha 2/delta subunit 2
Click here to display 124 evidence detail records.
HumanAIFM19131apoptosis-inducing factor, mitochondrion-associated, 1
Click here to display 124 evidence detail records.
HumanUSP149097ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)
Click here to display 124 evidence detail records.
HumanHERC18925HECT and RLD domain containing E3 ubiquitin protein ligase family member 1
Click here to display 124 evidence detail records.
HumanEPM2A7957epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
Click here to display 124 evidence detail records.
HumanVIM7431vimentin
Click here to display 124 evidence detail records.
HumanUGCG7357UDP-glucose ceramide glucosyltransferase
Click here to display 124 evidence detail records.
HumanTSC27249tuberous sclerosis 2
Click here to display 124 evidence detail records.
HumanSPTBN26712spectrin, beta, non-erythrocytic 2
Click here to display 124 evidence detail records.
HumanSMPD16609sphingomyelin phosphodiesterase 1, acid lysosomal
Click here to display 124 evidence detail records.
XRefs (1)

XRef Types:
mp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
MPimg MP:0000876Purkinje cell degeneration0self