Logo arc image image
GATACA
  • Pin/Unpin Search
  • Pin/Unpin Details
Status:
Global Actions
Concepts: 0 (0)   Selected: 0 (0
Clear All Selections
 
Search
Text Search Results
Text Search Query:
none
Text Search Options:
none

Guided Help

Text Search Results
GraphTree Minimize or Maximize this Category
 Disease: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Anatomy: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Gene: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Jax Mouse Phenotype: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Human Phenotype: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Gene Ontology: Biological Processes: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Gene Ontology: Cellular Component: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Gene Ontology: Molecular Function: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Pathway: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Drug: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Genomic Expression Atlas --
      Microarray Datasets: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 PubMed: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 CoExpression Atlas: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 CoExpression: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Interactions: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Details
Link-It Detail - Human Phenotype - Abnormal peripheral myelination
Debug Stats
  • ### Total Build Time: 41 ms 29.021 KB
  • CONCEPT_NAME gt=5 ms Completed: 5 ms rowSize= 206 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 231 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=11 ms Completed: 11 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=2 ms Completed: 2 ms rowSize= 809 bytes
  • CONCEPT_CHILDREN gt=3 ms Completed: 3 ms rowSize= 2.384 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=3 ms Completed: 3 ms rowSize= 2.122 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=14 ms Completed: 14 ms rowSize= 22.129 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.025 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormal peripheral myelination HP:0003130
Definition (1)
An abnormality of the myelination of peripheral neuronal axons and dendrites.
Parents (2)
img Abnormality of the peripheral nervous system HP:0000759
img Abnormal neurological laboratory findings HP:0003129
Children (7)
img Peripheral hypomyelination HP:0007182
img Peripheral demyelination HP:0011096
img Delayed peripheral myelination HP:0011401
img Myelin outfoldings HP:0004336
img Peripheral dysmyelination HP:0003469
img Decreased number of peripheral myelinated nerve fibers HP:0003380
img Onion bulb formation HP:0003383
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormality of the peripheral nervous system HP:0000759
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormal neurological laboratory findings HP:0003129
Genes (75)

Species:
human : 75
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanCMT2H619496Charcot-Marie-Tooth disease, axonal, type 2H
img HP RolledUp, OMIM ID: 607731
HumanCMT2G431712Charcot-Marie-Tooth disease, axonal, type 2G
img HP RolledUp, OMIM ID: 608591
HumanCMTDI2387574Charcot-Marie-Tooth disease, dominant intermediate 2
img HP RolledUp, OMIM ID: 606483
HumanSCA25338435spinocerebellar ataxia 25
img HP RolledUp, OMIM ID: 608703
HumanSUMF1285362sulfatase modifying factor 1
img HP RolledUp, OMIM ID: 272200
HumanASXL1171023additional sex combs like 1 (Drosophila)
img HP RolledUp, OMIM ID: 605039
HumanFGD4121512FYVE, RhoGEF and PH domain containing 4
img HP RolledUp, OMIM ID: 609311
HumanC12orf6591574chromosome 12 open reading frame 65
img HP RolledUp, OMIM ID: 615035
HumanSBF281846SET binding factor 2
img HP RolledUp, OMIM ID: 604563
HumanHMNJ80768Distal hereditary motor neuropathy, Jerash type
img HP RolledUp, OMIM ID: 605726
HumanSPG1180208spastic paraplegia 11 (autosomal recessive)
img HP RolledUp, OMIM ID: 604360
HumanSH3TC279628SH3 domain and tetratricopeptide repeats 2
HumanWNK165125WNK lysine deficient protein kinase 1
img HP RolledUp, OMIM ID: 201300
HumanINF264423inverted formin, FH2 and WH2 domain containing
img HP RolledUp, OMIM ID: 614455
HumanGNB459345guanine nucleotide binding protein (G protein), beta polypeptide 4
img HP RolledUp, OMIM ID: 615185
HumanNMSR59333Neuropathy, hereditary motor and sensory, Russe type
img HP RolledUp, OMIM ID: 605285
HumanPRX57716periaxin
img HP RolledUp, OMIM ID: 614895
img HP RolledUp, OMIM ID: 145900
HumanMCOLN157192mucolipin 1
HumanAPTX54840aprataxin
HumanGDAP154332ganglioside induced differentiation associated protein 1
img HP RolledUp, OMIM ID: 214400
img HP RolledUp, OMIM ID: 607706
img HP RolledUp, OMIM ID: 607831
img HP RolledUp, OMIM ID: 608340
HumanTREM254209triggering receptor expressed on myeloid cells 2
img HP RolledUp, OMIM ID: 221770
HumanHMSNO50989Neuropathy, hereditary motor and sensory, Okinawa type
img HP RolledUp, OMIM ID: 604484
HumanDHH50846desert hedgehog
img HP RolledUp, OMIM ID: 607080
HumanHSPB826353heat shock 22kDa protein 8
HumanSACS26278spastic ataxia of Charlevoix-Saguenay (sacsin)
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0003130Abnormal peripheral myelination0self