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Details
Link-It Detail - Human Phenotype - Abnormal myelination
Debug Stats
  • ### Total Build Time: 32 ms 28.660 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 195 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 199 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= 454 bytes
  • CONCEPT_CHILDREN gt=3 ms Completed: 3 ms rowSize= 2.055 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.169 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=21 ms Completed: 21 ms rowSize= 23.285 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.015 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormal myelination HP:0002520
Definition (1)
An abnormality of `myelination` (GO:0042552).
Namespace (1)
medical_genetics
Parents (1)
img Abnormality of the nervous system HP:0000707
Children (6)
img Decreased number of peripheral myelinated nerve fibers HP:0003380
img Onion bulb formation HP:0003383
img Delayed CNS myelination HP:0002188
img Demyelination HP:0003381
img Abnormal formation of myelin sheaths HP:0004335
img Myelin outfoldings HP:0004336
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001184img Abnormality of the nervous system HP:0000707
Genes (141)

Species:
human : 141
Page Size
Current 25
  Page 1 of 6
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Current 1
SpeciesGeneGeneIdGene NameEvidence
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
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
HumanNDUFS7374291NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
img HP RolledUp, OMIM ID: 256000
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
HumanNDUFAF6137682NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
img HP RolledUp, OMIM ID: 256000
HumanFGD4121512FYVE, RhoGEF and PH domain containing 4
img HP RolledUp, OMIM ID: 609311
HumanNDUFAF291942NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
img HP RolledUp, OMIM ID: 256000
HumanC12orf6591574chromosome 12 open reading frame 65
img HP RolledUp, OMIM ID: 615035
HumanSHANK385358SH3 and multiple ankyrin repeat domains 3
img HP RolledUp, OMIM ID: 606232
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
HumanL2HGDH79944L-2-hydroxyglutarate dehydrogenase
img HP RolledUp, OMIM ID: 236792
HumanSNIP179753Smad nuclear interacting protein 1
img HP RolledUp, OMIM ID: 614501
HumanSH3TC279628SH3 domain and tetratricopeptide repeats 2
img HP RolledUp, OMIM ID: 601596
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
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0002520Abnormal myelination0self