AtlasKeitä autammeTieteemmeTuotteetTulokset
Kirjaudu sisäänKysySekvensoi genomisi↗
Piirre
Peripheral neuropathy
Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.
Yhteenveto
- Tunnetaan myös nimellä
- Peripheral nerve damage, Peripheral neuritis
- Elimistön järjestelmä
- Abnormality of the nervous system
AtlasKeitä autammeTieteemmeTuotteetTulokset
Kirjaudu sisäänKysySekvensoi genomisi↗
Tämä sivu datana
Lisää sivun osoitteen perään .json tai pyydä application/json-muotoa, niin saat sivun JSON-muodossa.
library(jsonlite)
url <- "https://dantelabs.com/traits/peripheral-neuropathy.json"
page <- fromJSON(url)
page$trait$namePeripheral neuropathyHP:0009830
AtlasKeitä autammeTieteemmeTuotteetTulokset
Kirjaudu sisäänKysySekvensoi genomisi↗
Lue Peripheral neuropathy-nimiseen tai sen kanssa liittyvät geenit ja muu genomisi yhdellä testillä.
Alkaen 449 $Ilmainen toimitus · Tulokset 6–8 viikossa
Tilaa Genome Test271 geeniä, jotka liittyvät piirteeseen Peripheral neuropathy
Näiden geenien muutokset aiheuttavat harvinaisia sairauksia, joissa Peripheral neuropathy esiintyy. Useimmilla, joilla on tämä piirre, ei ole mitään näistä sairauksista, eikä tämän listan geeni kerro mitään kenenkään omasta genomista.
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| ACER3alkaline ceramidase 3 | Aina | 1 sairaudessa |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Aina | 1 sairaudessa |
| BAG3BAG cochaperone 3 | Aina | 1 sairaudessa |
| C19orf12chromosome 19 open reading frame 12 | Aina | 1 sairaudessa |
| CADM3cell adhesion molecule 3 | Aina | 1 sairaudessa |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Aina | 1 sairaudessa |
| DMXL2Dmx like 2 | Aina | 1 sairaudessa |
| DNAJC3DnaJ heat shock protein family (Hsp40) member C3 | Aina | 1 sairaudessa |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Aina | 1 sairaudessa |
| EGR2early growth response 2 | Aina | 2 sairaudessa |
| GDAP1ganglioside induced differentiation associated protein 1 | Aina | 1 sairaudessa |
| GTPBP2GTP binding protein 2 | Aina | 1 sairaudessa |
| HSPB8heat shock protein family B (small) member 8 | Aina | 1 sairaudessa |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Aina | 3 sairaudessa |
| INF2inverted formin 2 | Aina | 1 sairaudessa |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Aina | 1 sairaudessa |
| MFN2mitofusin 2 | Aina | 2 sairaudessa |
| NDC1NDC1 transmembrane nucleoporin | Aina | 1 sairaudessa |
| NGFnerve growth factor | Aina | 1 sairaudessa |
| OPA1OPA1 mitochondrial dynamin like GTPase | Aina | 3 sairaudessa |
| PDSS1decaprenyl diphosphate synthase subunit 1 | Aina | 1 sairaudessa |
| PEX5peroxisomal biogenesis factor 5 | Aina | 1 sairaudessa |
| PNKPpolynucleotide kinase 3'-phosphatase | Aina | 2 sairaudessa |
| POLGDNA polymerase gamma, catalytic subunit | Aina | 5 sairaudessa |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Aina | 6 sairaudessa |
| PSAPprosaposin | Aina | 2 sairaudessa |
| REEP1receptor accessory protein 1 | Aina | 1 sairaudessa |
| RFC1replication factor C subunit 1 | Aina | 1 sairaudessa |
| RFC4replication factor C subunit 4 | Aina | 1 sairaudessa |
| SCO2synthesis of cytochrome C oxidase 2 | Aina | 1 sairaudessa |
| SCP2sterol carrier protein 2 | Aina | 1 sairaudessa |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Aina | 1 sairaudessa |
| TYMPthymidine phosphorylase | Aina | 2 sairaudessa |
| ABCD1ATP binding cassette subfamily D member 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| AP1B1adaptor related protein complex 1 subunit beta 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| AP1S1adaptor related protein complex 1 subunit sigma 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| APTXaprataxin | Hyvin usein (80–99%) | 1 sairaudessa |
| ATXN1ataxin 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| ATXN3ataxin 3 | Hyvin usein (80–99%) | 2 sairaudessa |
Näytä 231 geeniä lisää
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| CCT5chaperonin containing TCP1 subunit 5 | Hyvin usein (80–99%) | 1 sairaudessa |
| ELP1elongator acetyltransferase complex subunit 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| GBE11,4-alpha-glucan branching enzyme 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| GCLCglutamate-cysteine ligase catalytic subunit | Hyvin usein (80–99%) | 1 sairaudessa |
| LYSTlysosomal trafficking regulator | Hyvin usein (80–99%) | 2 sairaudessa |
| MYOTmyotilin | Hyvin usein (80–99%) | 1 sairaudessa |
| PEX7peroxisomal biogenesis factor 7 | Hyvin usein (80–99%) | 1 sairaudessa |
| PHYHphytanoyl-CoA 2-hydroxylase | Hyvin usein (80–99%) | 1 sairaudessa |
| PMP22peripheral myelin protein 22 | Hyvin usein (80–99%) | 3 sairaudessa |
| SCN10Asodium voltage-gated channel alpha subunit 10 | Hyvin usein (80–99%) | 1 sairaudessa |
| SCN11Asodium voltage-gated channel alpha subunit 11 | Hyvin usein (80–99%) | 1 sairaudessa |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Hyvin usein (80–99%) | 2 sairaudessa |
| SOX10SRY-box transcription factor 10 | Hyvin usein (80–99%) | 1 sairaudessa |
| TFGtrafficking from ER to golgi regulator | Hyvin usein (80–99%) | 2 sairaudessa |
| TTPAalpha tocopherol transfer protein | Hyvin usein (80–99%) | 1 sairaudessa |
| ALADaminolevulinate dehydratase | Usein (30–79%) | 1 sairaudessa |
| ATP5F1AATP synthase F1 subunit alpha | Usein (30–79%) | 1 sairaudessa |
| ATP5F1DATP synthase F1 subunit delta | Usein (30–79%) | 1 sairaudessa |
| ATP5F1EATP synthase F1 subunit epsilon | Usein (30–79%) | 2 sairaudessa |
| ATP5MKATP synthase membrane subunit k | Usein (30–79%) | 1 sairaudessa |
| ATP5POATP synthase peripheral stalk subunit OSCP | Usein (30–79%) | 1 sairaudessa |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Usein (30–79%) | 1 sairaudessa |
| BORCS5BLOC-1 related complex subunit 5 | Usein (30–79%) | 1 sairaudessa |
| CAPN1calpain 1 | Usein (30–79%) | 2 sairaudessa |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Usein (30–79%) | 2 sairaudessa |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Usein (30–79%) | 2 sairaudessa |
| DCAF17DDB1 and CUL4 associated factor 17 | Usein (30–79%) | 1 sairaudessa |
| ELOVL5ELOVL fatty acid elongase 5 | Usein (30–79%) | 1 sairaudessa |
| EMILIN1elastin microfibril interfacer 1 | Usein (30–79%) | 1 sairaudessa |
| ERBB3erb-b2 receptor tyrosine kinase 3 | Usein (30–79%) | 1 sairaudessa |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Usein (30–79%) | 3 sairaudessa |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Usein (30–79%) | 1 sairaudessa |
| FMR1fragile X messenger ribonucleoprotein 1 | Usein (30–79%) | 2 sairaudessa |
| GALCgalactosylceramidase | Usein (30–79%) | 3 sairaudessa |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Usein (30–79%) | 3 sairaudessa |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Usein (30–79%) | 2 sairaudessa |
| HLA-DPA1major histocompatibility complex, class II, DP alpha 1 | Usein (30–79%) | 1 sairaudessa |
| HLA-DPB1major histocompatibility complex, class II, DP beta 1 | Usein (30–79%) | 1 sairaudessa |
| HMBShydroxymethylbilane synthase | Usein (30–79%) | 1 sairaudessa |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Usein (30–79%) | 1 sairaudessa |
| LIG3DNA ligase 3 | Usein (30–79%) | 1 sairaudessa |
| LRPPRCleucine rich pentatricopeptide repeat containing | Usein (30–79%) | 1 sairaudessa |
| MARS1methionyl-tRNA synthetase 1 | Usein (30–79%) | 1 sairaudessa |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Usein (30–79%) | 2 sairaudessa |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Usein (30–79%) | 1 sairaudessa |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Usein (30–79%) | 2 sairaudessa |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Usein (30–79%) | 1 sairaudessa |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Usein (30–79%) | 2 sairaudessa |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Usein (30–79%) | 2 sairaudessa |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Usein (30–79%) | 2 sairaudessa |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Usein (30–79%) | 2 sairaudessa |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Usein (30–79%) | 2 sairaudessa |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Usein (30–79%) | 1 sairaudessa |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Usein (30–79%) | 1 sairaudessa |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Usein (30–79%) | 1 sairaudessa |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Usein (30–79%) | 1 sairaudessa |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Usein (30–79%) | 1 sairaudessa |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Usein (30–79%) | 1 sairaudessa |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Usein (30–79%) | 1 sairaudessa |
| MTHFRmethylenetetrahydrofolate reductase | Usein (30–79%) | 1 sairaudessa |
| MTRFRmitochondrial translation release factor in rescue | Usein (30–79%) | 1 sairaudessa |
| MYH14myosin heavy chain 14 | Usein (30–79%) | 2 sairaudessa |
| NAGAalpha-N-acetylgalactosaminidase | Usein (30–79%) | 2 sairaudessa |
| NARS1asparaginyl-tRNA synthetase 1 | Usein (30–79%) | 2 sairaudessa |
| NGLY1N-glycanase 1 | Usein (30–79%) | 1 sairaudessa |
| PDE4Dphosphodiesterase 4D | Usein (30–79%) | 1 sairaudessa |
| PLA2G6phospholipase A2 group VI | Usein (30–79%) | 1 sairaudessa |
| PNPLA6patatin like domain 6, lysophospholipase | Usein (30–79%) | 2 sairaudessa |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Usein (30–79%) | 1 sairaudessa |
| PRTN3proteinase 3 | Usein (30–79%) | 1 sairaudessa |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Usein (30–79%) | 2 sairaudessa |
| RAI1retinoic acid induced 1 | Usein (30–79%) | 2 sairaudessa |
| RRM1ribonucleotide reductase catalytic subunit M1 | Usein (30–79%) | 1 sairaudessa |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Usein (30–79%) | 2 sairaudessa |
| SACSsacsin molecular chaperone | Usein (30–79%) | 1 sairaudessa |
| SCYL1SCY1 like pseudokinase 1 | Usein (30–79%) | 1 sairaudessa |
| SLC12A6solute carrier family 12 member 6 | Usein (30–79%) | 1 sairaudessa |
| SLC30A10solute carrier family 30 member 10 | Usein (30–79%) | 1 sairaudessa |
| SLC46A1solute carrier family 46 member 1 | Usein (30–79%) | 2 sairaudessa |
| SNAP29synaptosome associated protein 29 | Usein (30–79%) | 2 sairaudessa |
| TDP1tyrosyl-DNA phosphodiesterase 1 | Usein (30–79%) | 1 sairaudessa |
| TIMMDC1translocase of inner mitochondrial membrane domain containing 1 | Usein (30–79%) | 1 sairaudessa |
| TK2thymidine kinase 2 | Usein (30–79%) | 1 sairaudessa |
| TNXBtenascin XB | Usein (30–79%) | 1 sairaudessa |
| TOP3ADNA topoisomerase III alpha | Usein (30–79%) | 1 sairaudessa |
| TRMT5tRNA methyltransferase 5 | Usein (30–79%) | 1 sairaudessa |
| ZFRzinc finger RNA binding protein | Usein (30–79%) | 1 sairaudessa |
| AARS1alanyl-tRNA synthetase 1 | Joskus (5–29%) | 2 sairaudessa |
| ABCC8ATP binding cassette subfamily C member 8 | Joskus (5–29%) | 1 sairaudessa |
| ADA2adenosine deaminase 2 | Joskus (5–29%) | 2 sairaudessa |
| ALDH4A1aldehyde dehydrogenase 4 family member A1 | Joskus (5–29%) | 1 sairaudessa |
| AP5Z1adaptor related protein complex 5 subunit zeta 1 | Joskus (5–29%) | 2 sairaudessa |
| ATL1atlastin GTPase 1 | Joskus (5–29%) | 2 sairaudessa |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Joskus (5–29%) | 1 sairaudessa |
| BMP6bone morphogenetic protein 6 | Joskus (5–29%) | 1 sairaudessa |
| BRD4bromodomain containing 4 | Joskus (5–29%) | 1 sairaudessa |
| BTNL2butyrophilin like 2 | Joskus (5–29%) | 1 sairaudessa |
| CARS1cysteinyl-tRNA synthetase 1 | Joskus (5–29%) | 1 sairaudessa |
| CBLIFcobalamin binding intrinsic factor | Joskus (5–29%) | 1 sairaudessa |
| CCND1cyclin D1 | Joskus (5–29%) | 1 sairaudessa |
| CD28CD28 molecule | Joskus (5–29%) | 1 sairaudessa |
| CD4CD4 molecule | Joskus (5–29%) | 1 sairaudessa |
| CISD2CDGSH iron sulfur domain 2 | Joskus (5–29%) | 1 sairaudessa |
| DBR1debranching RNA lariats 1 | Joskus (5–29%) | 1 sairaudessa |
| DDB2damage specific DNA binding protein 2 | Joskus (5–29%) | 1 sairaudessa |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Joskus (5–29%) | 1 sairaudessa |
| DNASE1L3deoxyribonuclease 1L3 | Joskus (5–29%) | 1 sairaudessa |
| DNMT1DNA methyltransferase 1 | Joskus (5–29%) | 1 sairaudessa |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Joskus (5–29%) | 1 sairaudessa |
| DSTYKdual serine/threonine and tyrosine protein kinase | Joskus (5–29%) | 1 sairaudessa |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Joskus (5–29%) | 1 sairaudessa |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Joskus (5–29%) | 3 sairaudessa |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Joskus (5–29%) | 2 sairaudessa |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Joskus (5–29%) | 1 sairaudessa |
| ERCC5ERCC excision repair 5, endonuclease | Joskus (5–29%) | 2 sairaudessa |
| FBN1fibrillin 1 | Joskus (5–29%) | 2 sairaudessa |
| FLNCfilamin C | Joskus (5–29%) | 1 sairaudessa |
| GTF2E2general transcription factor IIE subunit 2 | Joskus (5–29%) | 1 sairaudessa |
| GTF2H5general transcription factor IIH subunit 5 | Joskus (5–29%) | 1 sairaudessa |
| GUK1guanylate kinase 1 | Joskus (5–29%) | 1 sairaudessa |
| HADHhydroxyacyl-CoA dehydrogenase | Joskus (5–29%) | 1 sairaudessa |
| HDAC8histone deacetylase 8 | Joskus (5–29%) | 1 sairaudessa |
| HFEhomeostatic iron regulator | Joskus (5–29%) | 1 sairaudessa |
| HLA-Bmajor histocompatibility complex, class I, B | Joskus (5–29%) | 1 sairaudessa |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Joskus (5–29%) | 2 sairaudessa |
| HSD3B7hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Joskus (5–29%) | 1 sairaudessa |
| INSRinsulin receptor | Joskus (5–29%) | 1 sairaudessa |
| IRF4interferon regulatory factor 4 | Joskus (5–29%) | 1 sairaudessa |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Joskus (5–29%) | 1 sairaudessa |
| MAU2MAU2 sister chromatid cohesion factor | Joskus (5–29%) | 1 sairaudessa |
| MPC1mitochondrial pyruvate carrier 1 | Joskus (5–29%) | 1 sairaudessa |
| MPLKIPM-phase specific PLK1 interacting protein | Joskus (5–29%) | 1 sairaudessa |
| MPV17mitochondrial inner membrane protein MPV17 | Joskus (5–29%) | 1 sairaudessa |
| MT-CYBmitochondrially encoded cytochrome b | Joskus (5–29%) | 1 sairaudessa |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Joskus (5–29%) | 1 sairaudessa |
| MT-ND4Lmitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L | Joskus (5–29%) | 1 sairaudessa |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Joskus (5–29%) | 1 sairaudessa |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Joskus (5–29%) | 1 sairaudessa |
| MYD88MYD88 innate immune signal transduction adaptor | Joskus (5–29%) | 1 sairaudessa |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Joskus (5–29%) | 1 sairaudessa |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Joskus (5–29%) | 1 sairaudessa |
| NEFLneurofilament light chain | Joskus (5–29%) | 1 sairaudessa |
| NFU1NFU1 iron-sulfur cluster scaffold | Joskus (5–29%) | 1 sairaudessa |
| NIPBLNIPBL cohesin loading factor | Joskus (5–29%) | 1 sairaudessa |
| NOTCH2notch receptor 2 | Joskus (5–29%) | 1 sairaudessa |
| NOTCH3notch receptor 3 | Joskus (5–29%) | 1 sairaudessa |
| P4HA2prolyl 4-hydroxylase subunit alpha 2 | Joskus (5–29%) | 1 sairaudessa |
| PEX1peroxisomal biogenesis factor 1 | Joskus (5–29%) | 1 sairaudessa |
| PEX16peroxisomal biogenesis factor 16 | Joskus (5–29%) | 1 sairaudessa |
| PEX6peroxisomal biogenesis factor 6 | Joskus (5–29%) | 1 sairaudessa |
| PHF6PHD finger protein 6 | Joskus (5–29%) | 1 sairaudessa |
| PLEKHG4pleckstrin homology and RhoGEF domain containing G4 | Joskus (5–29%) | 1 sairaudessa |
| PMM2phosphomannomutase 2 | Joskus (5–29%) | 1 sairaudessa |
| PMPCApeptidase, mitochondrial processing subunit alpha | Joskus (5–29%) | 1 sairaudessa |
| POLG2DNA polymerase gamma 2, accessory subunit | Joskus (5–29%) | 1 sairaudessa |
| POLR3ARNA polymerase III subunit A | Joskus (5–29%) | 2 sairaudessa |
| POLR3BRNA polymerase III subunit B | Joskus (5–29%) | 1 sairaudessa |
| PRF1perforin 1 | Joskus (5–29%) | 1 sairaudessa |
| RAB18RAB18, member RAS oncogene family | Joskus (5–29%) | 1 sairaudessa |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Joskus (5–29%) | 1 sairaudessa |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Joskus (5–29%) | 1 sairaudessa |
| RAD21RAD21 cohesin complex component | Joskus (5–29%) | 1 sairaudessa |
| RMND1required for meiotic nuclear division 1 homolog | Joskus (5–29%) | 1 sairaudessa |
| RNASEH1ribonuclease H1 | Joskus (5–29%) | 1 sairaudessa |
| RNF113Aring finger protein 113A | Joskus (5–29%) | 1 sairaudessa |
| RNU7-1RNA, U7 small nuclear 1 | Joskus (5–29%) | 1 sairaudessa |
| SAA1serum amyloid A1 | Joskus (5–29%) | 1 sairaudessa |
| SEPTIN9septin 9 | Joskus (5–29%) | 2 sairaudessa |
| SIL1SIL1 nucleotide exchange factor | Joskus (5–29%) | 1 sairaudessa |
| SLC25A4solute carrier family 25 member 4 | Joskus (5–29%) | 1 sairaudessa |
| SLC52A3solute carrier family 52 member 3 | Joskus (5–29%) | 1 sairaudessa |
| SMC1Astructural maintenance of chromosomes 1A | Joskus (5–29%) | 1 sairaudessa |
| SMC3structural maintenance of chromosomes 3 | Joskus (5–29%) | 1 sairaudessa |
| SMPD1sphingomyelin phosphodiesterase 1 | Joskus (5–29%) | 1 sairaudessa |
| SPG21SPG21 abhydrolase domain containing, maspardin | Joskus (5–29%) | 1 sairaudessa |
| STX11syntaxin 11 | Joskus (5–29%) | 1 sairaudessa |
| STXBP2syntaxin binding protein 2 | Joskus (5–29%) | 1 sairaudessa |
| TARS1threonyl-tRNA synthetase 1 | Joskus (5–29%) | 1 sairaudessa |
| TBC1D20TBC1 domain family member 20 | Joskus (5–29%) | 1 sairaudessa |
| TBC1D24TBC1 domain family member 24 | Joskus (5–29%) | 1 sairaudessa |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Joskus (5–29%) | 1 sairaudessa |
| TNFRSF1BTNF receptor superfamily member 1B | Joskus (5–29%) | 1 sairaudessa |
| TWNKtwinkle mtDNA helicase | Joskus (5–29%) | 1 sairaudessa |
| UNC13Dunc-13 homolog D | Joskus (5–29%) | 1 sairaudessa |
| WASWASP actin nucleation promoting factor | Joskus (5–29%) | 1 sairaudessa |
| WFS1wolframin ER transmembrane glycoprotein | Joskus (5–29%) | 1 sairaudessa |
| XPAXPA, DNA damage recognition and repair factor | Joskus (5–29%) | 1 sairaudessa |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Joskus (5–29%) | 1 sairaudessa |
| ADAT3adenosine deaminase tRNA specific 3 | Harvinainen (1–4 %) | 1 sairaudessa |
| FA2Hfatty acid 2-hydroxylase | Harvinainen (1–4 %) | 1 sairaudessa |
| GCDHglutaryl-CoA dehydrogenase | Harvinainen (1–4 %) | 1 sairaudessa |
| GJB2gap junction protein beta 2 | Harvinainen (1–4 %) | 1 sairaudessa |
| GJB6gap junction protein beta 6 | Harvinainen (1–4 %) | 1 sairaudessa |
| KIF1Ckinesin family member 1C | Harvinainen (1–4 %) | 1 sairaudessa |
| LDB3LIM domain binding 3 | Harvinainen (1–4 %) | 1 sairaudessa |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Harvinainen (1–4 %) | 1 sairaudessa |
| TTBK2tau tubulin kinase 2 | Harvinainen (1–4 %) | 1 sairaudessa |
| TTRtransthyretin | Harvinainen (1–4 %) | 3 sairaudessa |
| AGXTalanine--glyoxylate aminotransferase | Ei kirjattu | 1 sairaudessa |
| ARandrogen receptor | Ei kirjattu | 1 sairaudessa |
| ATXN8ataxin 8 | Ei kirjattu | 1 sairaudessa |
| ATXN8OSATXN8 opposite strand lncRNA | Ei kirjattu | 1 sairaudessa |
| COX6A1cytochrome c oxidase subunit 6A1 | Ei kirjattu | 1 sairaudessa |
| CPOXcoproporphyrinogen oxidase | Ei kirjattu | 1 sairaudessa |
| DYNC1H1dynein cytoplasmic 1 heavy chain 1 | Ei kirjattu | 1 sairaudessa |
| GARS1glycyl-tRNA synthetase 1 | Ei kirjattu | 1 sairaudessa |
| GJB1gap junction protein beta 1 | Ei kirjattu | 1 sairaudessa |
| HARS1histidyl-tRNA synthetase 1 | Ei kirjattu | 1 sairaudessa |
| HK1hexokinase 1 | Ei kirjattu | 1 sairaudessa |
| HSPB1heat shock protein family B (small) member 1 | Ei kirjattu | 1 sairaudessa |
| HSPB3heat shock protein family B (small) member 3 | Ei kirjattu | 1 sairaudessa |
| KIF1Akinesin family member 1A | Ei kirjattu | 2 sairaudessa |
| KIF1Bkinesin family member 1B | Ei kirjattu | 1 sairaudessa |
| MAGmyelin associated glycoprotein | Ei kirjattu | 1 sairaudessa |
| MFFmitochondrial fission factor | Ei kirjattu | 1 sairaudessa |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Ei kirjattu | 1 sairaudessa |
| MPZmyelin protein zero | Ei kirjattu | 1 sairaudessa |
| NAGLUN-acetyl-alpha-glucosaminidase | Ei kirjattu | 1 sairaudessa |
| PDK3pyruvate dehydrogenase kinase 3 | Ei kirjattu | 1 sairaudessa |
| PPOXprotoporphyrinogen oxidase | Ei kirjattu | 1 sairaudessa |
| RAB7ARAB7A, member RAS oncogene family | Ei kirjattu | 1 sairaudessa |
| RETREG1reticulophagy regulator 1 | Ei kirjattu | 1 sairaudessa |
| SGPL1sphingosine-1-phosphate lyase 1 | Ei kirjattu | 1 sairaudessa |
| SLC5A6solute carrier family 5 member 6 | Ei kirjattu | 1 sairaudessa |
| SLC5A7solute carrier family 5 member 7 | Ei kirjattu | 1 sairaudessa |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Ei kirjattu | 1 sairaudessa |
| SURF1SURF1 cytochrome c oxidase assembly factor | Ei kirjattu | 1 sairaudessa |
| TGM6transglutaminase 6 | Ei kirjattu | 1 sairaudessa |
| TPI1triosephosphate isomerase 1 | Ei kirjattu | 1 sairaudessa |
| TXN2thioredoxin 2 | Ei kirjattu | 1 sairaudessa |
| WNK1WNK lysine deficient protein kinase 1 | Ei kirjattu | 1 sairaudessa |
Kuinka usein ilmiö esiintyy ihmisillä, joilla on jokin geenin sairauksista, niin kuin Human Phenotype Ontology sen kirjaa. Nämä sivut kuvaavat piirteitä ja niiden taustalla olevaa tutkimusta, eivätkä ne ole diagnoosi. Oireista kannattaa kysyä lääkäriltä tai geneettiseltä neuvojalta.
Tarkemmat piirteet
- Peripheral axonal neuropathy144 geeniä
- Nerve damage causing decreased feeling and movement107 geeniä
- Peripheral nerve disease75 geeniä
- Damage to nerves that sense feeling59 geeniä
- Demyelinating peripheral neuropathy58 geeniä
- Motor polyneuropathy27 geeniä
- Mixed demyelinating and axonal polyneuropathy19 geeniä
- Progressive peripheral neuropathy5 geeniä
- Acute episodes of neuropathic symptoms4 geeniä
- Single damaged nerve2 geeniä
- Chronic sensorineural polyneuropathy1 geeni
- Entrapment neuropathy1 geeni
- Episodic peripheral neuropathy1 geeni
Laajemmat piirteet
Mistä tämä tieto tulee
- Human Phenotype Ontology, julkaisu 2026-09-01: piirre, sen nimet, määritelmä ja siihen liitetyt geenit. Lue lisää osoitteesta hpo.jax.org.
- Tietojulkaisu 2026.10.17-8666dff2.
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