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Details
Link-It Detail - Human Phenotype - Abnormality of peripheral nerve conduction
Debug Stats
  • ### Total Build Time: 63 ms 28.270 KB
  • CONCEPT_NAME gt=5 ms Completed: 5 ms rowSize= 217 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 310 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
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  • CONCEPT_PARENTS gt=4 ms Completed: 4 ms rowSize= 1.127 KB
  • CONCEPT_CHILDREN gt=7 ms Completed: 7 ms rowSize= 2.470 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=6 ms Completed: 6 ms rowSize= 3.065 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=31 ms Completed: 31 ms rowSize= 19.912 KB
  • CONCEPT_XREFS gt=8 ms Completed: 8 ms rowSize= 1.036 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of peripheral nerve conduction HP:0003134
Definition (1)
An abnormality of the conduction of electrical impulses by peripheral (motor or sensory) nerves. This finding is elicited by a nerve conduction study (NCS).
Parents (3)
img Abnormality of the peripheral nervous system HP:0000759
img Abnormal neurological laboratory findings HP:0003129
img Abnormality of the sensory nervous system HP:0001333
Children (7)
img Decreased motor and sensory nerve conduction velocities HP:0007118
img Type I hereditary motor and sensory neuropathy HP:0006832
img Motor conduction block HP:0012078
img Decreased nerve conduction velocity HP:0000762
img Decreased distal sensory nerve action potential HP:0007230
img Type ii motor-sensory neuropathy HP:0007186
img Decreased amplitude of sensory action potentials HP:0007078
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
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormality of the sensory nervous system HP:0001333
Genes (90)

Species:
human : 90
Page Size
Current 25
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanHMSN5101059903Hereditary motor and sensory neuropathy V
img HP RolledUp, OMIM ID: 600361
HumanCMT2G431712Charcot-Marie-Tooth disease, axonal, type 2G
img HP RolledUp, OMIM ID: 608591
HumanSUMF1285362sulfatase modifying factor 1
img HP RolledUp, OMIM ID: 272200
HumanFGD4121512FYVE, RhoGEF and PH domain containing 4
HumanFAM126A84668family with sequence similarity 126, member A
img HP RolledUp, OMIM ID: 610532
HumanHMCN183872hemicentin 1
img HP RolledUp, OMIM ID: 609033
HumanMED2581857mediator complex subunit 25
img HP RolledUp, OMIM ID: 605589
HumanSBF281846SET binding factor 2
HumanHMNJ80768Distal hereditary motor neuropathy, Jerash type
HumanSH3TC279628SH3 domain and tetratricopeptide repeats 2
HumanWNK165125WNK lysine deficient protein kinase 1
img HP RolledUp, OMIM ID: 201300
HumanTRPV459341transient receptor potential cation channel, subfamily V, member 4
img HP RolledUp, OMIM ID: 606071
HumanNMSR59333Neuropathy, hereditary motor and sensory, Russe type
HumanPRX57716periaxin
img HP RolledUp, OMIM ID: 614895
HumanGJC257165gap junction protein, gamma 2, 47kDa
HumanGDAP154332ganglioside induced differentiation associated protein 1
img HP RolledUp, OMIM ID: 607706
HumanFLVCR128982feline leukemia virus subgroup C cellular receptor 1
img HP RolledUp, OMIM ID: 609033
HumanHSPB826353heat shock 22kDa protein 8
img HP RolledUp, OMIM ID: 608673
HumanSACS26278spastic ataxia of Charlevoix-Saguenay (sacsin)
img HP RolledUp, OMIM ID: 270550
HumanABHD1226090abhydrolase domain containing 12
img HP RolledUp, OMIM ID: 612674
HumanATXN1025814ataxin 10
img HP RolledUp, OMIM ID: 603516
HumanKIF1B23095kinesin family member 1B
img HP RolledUp, OMIM ID: 118210
HumanSETX23064senataxin
HumanCCT522948chaperonin containing TCP1, subunit 5 (epsilon)
img HP RolledUp, OMIM ID: 256840
HumanSPTLC110558serine palmitoyltransferase, long chain base subunit 1
img HP RolledUp, OMIM ID: 162400
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0003134Abnormality of peripheral nerve conduction0self