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Details
Link-It Detail - Human Phenotype - Abnormal formation of myelin sheaths
Debug Stats
  • ### Total Build Time: 26 ms 27.971 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 211 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
  • 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= 14 bytes
  • CONCEPT_NAMESPACE gt=0 Completed: 0 ms rowSize= 168 bytes
  • CONCEPT_PARENTS gt=2 ms Completed: 2 ms rowSize= 441 bytes
  • CONCEPT_CHILDREN gt=4 ms Completed: 4 ms rowSize= 1.771 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=1 ms Completed: 1 ms rowSize= 1.156 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=12 ms Completed: 12 ms rowSize= 23.068 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.030 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormal formation of myelin sheaths HP:0004335
Namespace (1)
medical_genetics
Parents (1)
img Abnormal myelination HP:0002520
Children (5)
img Sural nerve biopsy shows excessive focal folding of myelin sheaths HP:0007290
img Thin myelin sheaths HP:0003408
img Peripheral dysmyelination HP:0003469
img Hypomyelination HP:0003429
img Irregular loops and focal folding of myelin sheaths HP:0007208
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormal myelination HP:0002520
Genes (38)

Species:
human : 38
Page Size
Current 25
  Page 1 of 2
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanCMT2H619496Charcot-Marie-Tooth disease, axonal, type 2H
img HP RolledUp, OMIM ID: 607731
HumanSBF281846SET binding factor 2
img HP RolledUp, OMIM ID: 604563
HumanSNIP179753Smad nuclear interacting protein 1
img HP RolledUp, OMIM ID: 614501
HumanNMSR59333Neuropathy, hereditary motor and sensory, Russe type
img HP RolledUp, OMIM ID: 605285
HumanMCOLN157192mucolipin 1
img HP RolledUp, OMIM ID: 252650
HumanGJC257165gap junction protein, gamma 2, 47kDa
img HP RolledUp, OMIM ID: 608804
HumanPOLR3B55703polymerase (RNA) III (DNA directed) polypeptide B
img HP RolledUp, OMIM ID: 614381
img HP RolledUp, OMIM ID: 607694
HumanRMND155005required for meiotic nuclear division 1 homolog (S. cerevisiae)
img HP RolledUp, OMIM ID: 614922
HumanGDAP154332ganglioside induced differentiation associated protein 1
img HP RolledUp, OMIM ID: 214400
HumanPHGDH26227phosphoglycerate dehydrogenase
img HP RolledUp, OMIM ID: 601815
HumanPOLR3A11128polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
img HP RolledUp, OMIM ID: 607694
HumanTUBB4A10382tubulin, beta 4A class IVa
img HP RolledUp, OMIM ID: 612438
HumanFIG49896FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)
img HP RolledUp, OMIM ID: 611228
HumanGPR569289G protein-coupled receptor 56
img HP RolledUp, OMIM ID: 606854
HumanSLC33A19197solute carrier family 33 (acetyl-CoA transporter), member 1
img HP RolledUp, OMIM ID: 614482
HumanCTDP19150CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
img HP RolledUp, OMIM ID: 604168
HumanMTMR28898myotubularin related protein 2
img HP RolledUp, OMIM ID: 601382
HumanEIF2B58893eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
img HP RolledUp, OMIM ID: 603896
HumanEIF2B28892eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa
img HP RolledUp, OMIM ID: 603896
HumanEIF2B38891eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa
img HP RolledUp, OMIM ID: 603896
HumanEIF2B48890eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa
img HP RolledUp, OMIM ID: 603896
HumanSTXBP16812syntaxin binding protein 1
img HP RolledUp, OMIM ID: 612164
HumanSPTAN16709spectrin, alpha, non-erythrocytic 1
img HP RolledUp, OMIM ID: 613477
HumanSOX106663SRY (sex determining region Y)-box 10
img HP RolledUp, OMIM ID: 611584
img HP RolledUp, OMIM ID: 609136
HumanPSAP5660prosaposin
img HP RolledUp, OMIM ID: 611722
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0004335Abnormal formation of myelin sheaths0self