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Details
Link-It Detail - Human Phenotype - Abnormal CNS myelination
Debug Stats
  • ### Total Build Time: 21 ms 28.188 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 199 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 239 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=0 Completed: 0 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= 462 bytes
  • CONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 2.008 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.177 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=13 ms Completed: 13 ms rowSize= 22.961 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.019 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormal CNS myelination HP:0011400
Definition (1)
An abnormality of `myelination` (GO:0042552) of nerves in the central nervous system.
Parents (1)
img Abnormality of the central nervous system HP:0002011
Children (6)
img CNS demyelination HP:0007305
img Leukodystrophy HP:0002415
img Cerebral hypomyelination HP:0006808
img Hypomyelination HP:0003429
img Delayed CNS myelination HP:0002188
img Cerebral dysmyelination HP:0007266
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormality of the central nervous system HP:0002011
Genes (118)

Species:
human : 118
Page Size
Current 25
  Page 1 of 5
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanDEL14Q11Q22100505392Chromosome 14q11-q22 deletion syndrome
img HP IEA, OMIM ID: 613457
HumanDEL1P36100240737Chromosome 1p36 deletion syndrome
img HP RolledUp, OMIM ID: 607872
HumanDEL18Q100216483Chromosome 18q deletion syndrome
img HP RolledUp, OMIM ID: 601808
HumanCD24100133941CD24 molecule
img HP RolledUp, OMIM ID: 126200
HumanD2HGDH728294D-2-hydroxyglutarate dehydrogenase
img HP RolledUp, OMIM ID: 600721
HumanNDUFS7374291NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
img HP RolledUp, OMIM ID: 256000
HumanSUMF1285362sulfatase modifying factor 1
img HP RolledUp, OMIM ID: 272200
HumanASXL1171023additional sex combs like 1 (Drosophila)
HumanNDUFAF6137682NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
img HP RolledUp, OMIM ID: 256000
HumanNDUFA11126328NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa
img HP RolledUp, OMIM ID: 252010
HumanNDUFAF291942NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
img HP RolledUp, OMIM ID: 252010
img HP RolledUp, OMIM ID: 256000
HumanSHANK385358SH3 and multiple ankyrin repeat domains 3
img HP RolledUp, OMIM ID: 606232
HumanFAM126A84668family with sequence similarity 126, member A
img HP RolledUp, OMIM ID: 610532
HumanNUBPL80224nucleotide binding protein-like
img HP RolledUp, OMIM ID: 252010
HumanCTC180169CTS telomere maintenance complex component 1
img HP RolledUp, OMIM ID: 612199
HumanL2HGDH79944L-2-hydroxyglutarate dehydrogenase
HumanSNIP179753Smad nuclear interacting protein 1
img HP RolledUp, OMIM ID: 614501
HumanFA2H79152fatty acid 2-hydroxylase
img HP RolledUp, OMIM ID: 612443
HumanNDUFAF579133NADH dehydrogenase (ubiquinone) complex I, assembly factor 5
img HP RolledUp, OMIM ID: 252010
HumanNMSR59333Neuropathy, hereditary motor and sensory, Russe type
HumanMCOLN157192mucolipin 1
img HP RolledUp, OMIM ID: 252650
HumanGJC257165gap junction protein, gamma 2, 47kDa
img HP RolledUp, OMIM ID: 608804
HumanNDUFA1255967NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12
img HP RolledUp, OMIM ID: 256000
HumanPOLR3B55703polymerase (RNA) III (DNA directed) polypeptide B
img HP RolledUp, OMIM ID: 614381
img HP RolledUp, OMIM ID: 607694
HumanFOXRED155572FAD-dependent oxidoreductase domain containing 1
img HP RolledUp, OMIM ID: 252010
img HP RolledUp, OMIM ID: 256000
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0011400Abnormal CNS myelination0self