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Details
Link-It Detail - Human Phenotype - Abnormal neurological laboratory findings
Debug Stats
  • ### Total Build Time: 30 ms 32.023 KB
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  • Reload Stats
Human Phenotype (1)
Abnormal neurological laboratory findings HP:0003129
Namespace (1)
medical_genetics
Parents (1)
img Abnormality of the nervous system HP:0000707
Children (13)
img Abnormality of the cerebrospinal fluid HP:0002921
img Increased neuronal autofluorescent lipopigment HP:0002074
img Progressive axonal neuropathy with demyelinization on electroneurography HP:0003157
img Abnormality of peripheral nerve conduction HP:0003134
img Disturbed visual and brainstem auditory evoked responses indicative of CNS demyelination HP:0003151
img Sudanophilic leukodystrophy HP:0003269
img Abnormality of the spinocerebellar tracts HP:0003133
img Axonal loss with little evidence of demyelination or hypertrophic changes in nerve biopsies HP:0003360
img EMG abnormality HP:0003457
img Neurofibrillary tangles composed of disordered microtubules in neurons HP:0003132
img Abnormal peripheral myelination HP:0003130
img Abnormal auditory evoked potentials HP:0006958
img Increased extraneuronal autofluorescent lipopigment HP:0003463
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001184img Abnormality of the nervous system HP:0000707
Genes (272)

Species:
human : 272
Page Size
Current 25
  Page 1 of 11
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanHMSN5101059903Hereditary motor and sensory neuropathy V
img HP RolledUp, OMIM ID: 600361
HumanOCLN100506658occludin
img HP RolledUp, OMIM ID: 251290
HumanMPD3780920Myopathy, distal 3
img HP RolledUp, OMIM ID: 610099
HumanMHB619511myopathy, hyaline body, autosomal recessive
img HP RolledUp, OMIM ID: 255160
HumanCMT2H619496Charcot-Marie-Tooth disease, axonal, type 2H
img HP RolledUp, OMIM ID: 607731
HumanCOA5493753cytochrome c oxidase assembly factor 5
img HP RolledUp, OMIM ID: 220110
HumanCMT2G431712Charcot-Marie-Tooth disease, axonal, type 2G
img HP RolledUp, OMIM ID: 608591
HumanLGMD1F404679limb girdle muscular dystrophy 1F (autosomal dominant)
img HP RolledUp, OMIM ID: 608423
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
HumanSMAR246751Spinal muscular atrophy, chronic distal, autosomal recessive
img HP RolledUp, OMIM ID: 607088
HumanANO5203859anoctamin 5
img HP RolledUp, OMIM ID: 611307
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
HumanNDUFA11126328NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa
img HP RolledUp, OMIM ID: 252010
HumanMTFMT123263mitochondrial methionyl-tRNA formyltransferase
img HP RolledUp, OMIM ID: 614947
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
img HP RolledUp, OMIM ID: 252010
HumanC12orf6591574chromosome 12 open reading frame 65
img HP RolledUp, OMIM ID: 613559
img HP RolledUp, OMIM ID: 615035
HumanGFM185476G elongation factor, mitochondrial 1
img HP RolledUp, OMIM ID: 609060
HumanCOX1484987cytochrome c oxidase assembly homolog 14 (S. cerevisiae)
img HP RolledUp, OMIM ID: 220110
HumanFAM126A84668family with sequence similarity 126, member A
img HP RolledUp, OMIM ID: 610532
HumanHMCN183872hemicentin 1
img HP RolledUp, OMIM ID: 609033
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0003129Abnormal neurological laboratory findings0self