Keitä autammeTieteemmeTuotteetTulokset
Kirjaudu sisäänKysyAloitaalkaen 449 $
Piirre
Babinski sign
Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.
Yhteenveto
- Tunnetaan myös nimellä
- Extensor plantar reflexes, Extensor plantar response, Extensor plantar responses, Positive Babinski sign
- Elimistön järjestelmä
- Abnormality of the nervous system
Babinski signHP:0003487
Keitä autammeTieteemmeTuotteetTulokset
Kirjaudu sisäänKysyAloitaalkaen 449 $
Read the genes linked to Babinski sign, and the rest of your genome, with one test.
Alkaen 449 $Ilmainen toimitus · Tulokset 6–8 viikossa
Tilaa Genome Test313 geeniä, jotka liittyvät piirteeseen Babinski sign
Näiden geenien muutokset aiheuttavat harvinaisia sairauksia, joissa Babinski sign 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 |
|---|---|---|
| ABCB7ATP binding cassette subfamily B member 7 | Aina | 1 sairaudessa |
| AHDC1AT-hook DNA binding motif containing 1 | Aina | 1 sairaudessa |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Aina | 3 sairaudessa |
| AMPD2adenosine monophosphate deaminase 2 | Aina | 1 sairaudessa |
| AP4M1adaptor related protein complex 4 subunit mu 1 | Aina | 2 sairaudessa |
| ATG5autophagy related 5 | Aina | 1 sairaudessa |
| ATP7AATPase copper transporting alpha | Aina | 1 sairaudessa |
| BORCS8BLOC-1 related complex subunit 8 | Aina | 1 sairaudessa |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Aina | 3 sairaudessa |
| CCT5chaperonin containing TCP1 subunit 5 | Aina | 2 sairaudessa |
| CHP1calcineurin like EF-hand protein 1 | Aina | 1 sairaudessa |
| CLDN11claudin 11 | Aina | 1 sairaudessa |
| CPT1Ccarnitine palmitoyltransferase 1C | Aina | 2 sairaudessa |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Aina | 2 sairaudessa |
| CYP2U1cytochrome P450 family 2 subfamily U member 1 | Aina | 2 sairaudessa |
| DARS1aspartyl-tRNA synthetase 1 | Aina | 1 sairaudessa |
| DSTYKdual serine/threonine and tyrosine protein kinase | Aina | 1 sairaudessa |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Aina | 1 sairaudessa |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Aina | 1 sairaudessa |
| ERLIN2ER lipid raft associated 2 | Aina | 3 sairaudessa |
| FBXL4F-box and leucine rich repeat protein 4 | Aina | 1 sairaudessa |
| GBA2glucosylceramidase beta 2 | Aina | 3 sairaudessa |
| GFAPglial fibrillary acidic protein | Aina | 2 sairaudessa |
| GJC2gap junction protein gamma 2 | Aina | 2 sairaudessa |
| HMBShydroxymethylbilane synthase | Aina | 1 sairaudessa |
| HSPD1heat shock protein family D (Hsp60) member 1 | Aina | 3 sairaudessa |
| HYCC1hyccin PI4KA lipid kinase complex subunit 1 | Aina | 1 sairaudessa |
| IREB2iron responsive element binding protein 2 | Aina | 1 sairaudessa |
| KCNA4potassium voltage-gated channel subfamily A member 4 | Aina | 1 sairaudessa |
| KIF1Akinesin family member 1A | Aina | 4 sairaudessa |
| KIF5Akinesin family member 5A | Aina | 2 sairaudessa |
| KLC4kinesin light chain 4 | Aina | 1 sairaudessa |
| KPNA3karyopherin subunit alpha 3 | Aina | 2 sairaudessa |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Aina | 1 sairaudessa |
| LYRM7LYR motif containing 7 | Aina | 1 sairaudessa |
| MAGmyelin associated glycoprotein | Aina | 2 sairaudessa |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Aina | 1 sairaudessa |
| NEFHneurofilament heavy chain | Aina | 2 sairaudessa |
| NOTCH3notch receptor 3 | Aina | 1 sairaudessa |
| NT5C25'-nucleotidase, cytosolic II | Aina | 2 sairaudessa |
Näytä 273 geeniä lisää
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| PCYT2phosphate cytidylyltransferase 2, ethanolamine | Aina | 1 sairaudessa |
| PET117PET117 cytochrome c oxidase chaperone | Aina | 1 sairaudessa |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Aina | 2 sairaudessa |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Aina | 2 sairaudessa |
| POLGDNA polymerase gamma, catalytic subunit | Aina | 2 sairaudessa |
| POLR1ARNA polymerase I subunit A | Aina | 1 sairaudessa |
| REEP1receptor accessory protein 1 | Aina | 1 sairaudessa |
| REEP2receptor accessory protein 2 | Aina | 2 sairaudessa |
| RFC4replication factor C subunit 4 | Aina | 1 sairaudessa |
| RNU2-2RNA, U2 small nuclear 2 | Aina | 1 sairaudessa |
| RTN2reticulon 2 | Aina | 3 sairaudessa |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Aina | 1 sairaudessa |
| SELENOIselenoprotein I | Aina | 2 sairaudessa |
| SLC1A4solute carrier family 1 member 4 | Aina | 1 sairaudessa |
| SOD1superoxide dismutase 1 | Aina | 2 sairaudessa |
| SPARTspartin | Aina | 2 sairaudessa |
| SPG21SPG21 abhydrolase domain containing, maspardin | Aina | 1 sairaudessa |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Aina | 2 sairaudessa |
| TANGO2transport and golgi organization 2 homolog | Aina | 2 sairaudessa |
| TFGtrafficking from ER to golgi regulator | Aina | 2 sairaudessa |
| TMEM63Ctransmembrane protein 63C | Aina | 1 sairaudessa |
| TOR1Atorsin family 1 member A | Aina | 1 sairaudessa |
| TSEN2tRNA splicing endonuclease subunit 2 | Aina | 2 sairaudessa |
| VCPvalosin containing protein | Aina | 4 sairaudessa |
| WASHC5WASH complex subunit 5 | Aina | 2 sairaudessa |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Hyvin usein (80–99%) | 5 sairaudessa |
| AP4E1adaptor related protein complex 4 subunit epsilon 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| ATL1atlastin GTPase 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| ATP13A2ATPase cation transporting 13A2 | Hyvin usein (80–99%) | 5 sairaudessa |
| B4GALNT1beta-1,4-N-acetyl-galactosaminyltransferase 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| CAPN1calpain 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| CYP7B1cytochrome P450 family 7 subfamily B member 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| DDHD1DDHD domain containing 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| ERLIN1ER lipid raft associated 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| FA2Hfatty acid 2-hydroxylase | Hyvin usein (80–99%) | 2 sairaudessa |
| FXNfrataxin | Hyvin usein (80–99%) | 3 sairaudessa |
| GTPBP2GTP binding protein 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| MTPAPmitochondrial poly(A) polymerase | Hyvin usein (80–99%) | 2 sairaudessa |
| NIPA1NIPA magnesium transporter 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| PLP1proteolipid protein 1 | Hyvin usein (80–99%) | 3 sairaudessa |
| RNF170ring finger protein 170 | Hyvin usein (80–99%) | 1 sairaudessa |
| SLC33A1solute carrier family 33 member 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Hyvin usein (80–99%) | 3 sairaudessa |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Hyvin usein (80–99%) | 3 sairaudessa |
| TTPAalpha tocopherol transfer protein | Hyvin usein (80–99%) | 1 sairaudessa |
| UBAP1ubiquitin associated protein 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| UCHL1ubiquitin C-terminal hydrolase L1 | Hyvin usein (80–99%) | 1 sairaudessa |
| AARS1alanyl-tRNA synthetase 1 | Usein (30–79%) | 1 sairaudessa |
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Usein (30–79%) | 1 sairaudessa |
| ABCD1ATP binding cassette subfamily D member 1 | Usein (30–79%) | 1 sairaudessa |
| ABHD12abhydrolase domain containing 12, lysophospholipase | Usein (30–79%) | 1 sairaudessa |
| ABHD16Aabhydrolase domain containing 16A, phospholipase | Usein (30–79%) | 1 sairaudessa |
| ACOX1acyl-CoA oxidase 1 | Usein (30–79%) | 1 sairaudessa |
| ADARadenosine deaminase RNA specific | Usein (30–79%) | 1 sairaudessa |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Usein (30–79%) | 2 sairaudessa |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Usein (30–79%) | 2 sairaudessa |
| ANGangiogenin | Usein (30–79%) | 1 sairaudessa |
| ANXA11annexin A11 | Usein (30–79%) | 2 sairaudessa |
| AP4B1adaptor related protein complex 4 subunit beta 1 | Usein (30–79%) | 2 sairaudessa |
| AP4S1adaptor related protein complex 4 subunit sigma 1 | Usein (30–79%) | 2 sairaudessa |
| ARHGAP19Rho GTPase activating protein 19 | Usein (30–79%) | 1 sairaudessa |
| ASPAaspartoacylase | Usein (30–79%) | 2 sairaudessa |
| ATP6AP2ATPase H+ transporting accessory protein 2 | Usein (30–79%) | 4 sairaudessa |
| ATXN10ataxin 10 | Usein (30–79%) | 2 sairaudessa |
| ATXN2ataxin 2 | Usein (30–79%) | 2 sairaudessa |
| ATXN3ataxin 3 | Usein (30–79%) | 4 sairaudessa |
| ATXN7ataxin 7 | Usein (30–79%) | 2 sairaudessa |
| C19orf12chromosome 19 open reading frame 12 | Usein (30–79%) | 2 sairaudessa |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Usein (30–79%) | 1 sairaudessa |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Usein (30–79%) | 2 sairaudessa |
| CAMSAP1calmodulin regulated spectrin associated protein 1 | Usein (30–79%) | 1 sairaudessa |
| CAV1caveolin 1 | Usein (30–79%) | 1 sairaudessa |
| CCNFcyclin F | Usein (30–79%) | 1 sairaudessa |
| CFAP410cilia and flagella associated protein 410 | Usein (30–79%) | 1 sairaudessa |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Usein (30–79%) | 3 sairaudessa |
| CHMP2Bcharged multivesicular body protein 2B | Usein (30–79%) | 2 sairaudessa |
| COQ4coenzyme Q4 | Usein (30–79%) | 1 sairaudessa |
| COQ7coenzyme Q7, hydroxylase | Usein (30–79%) | 1 sairaudessa |
| COX20cytochrome c oxidase assembly factor COX20 | Usein (30–79%) | 1 sairaudessa |
| CWF19L1CWF19 like cell cycle control factor 1 | Usein (30–79%) | 1 sairaudessa |
| DAOD-amino acid oxidase | Usein (30–79%) | 1 sairaudessa |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Usein (30–79%) | 2 sairaudessa |
| DCTN1dynactin subunit 1 | Usein (30–79%) | 1 sairaudessa |
| DLATdihydrolipoamide S-acetyltransferase | Usein (30–79%) | 1 sairaudessa |
| DNAJC3DnaJ heat shock protein family (Hsp40) member C3 | Usein (30–79%) | 2 sairaudessa |
| DPM3dolichyl-phosphate mannosyltransferase subunit 3, regulatory | Usein (30–79%) | 1 sairaudessa |
| DTYMKdeoxythymidylate kinase | Usein (30–79%) | 1 sairaudessa |
| EARS2glutamyl-tRNA synthetase 2, mitochondrial | Usein (30–79%) | 1 sairaudessa |
| ELOVL1ELOVL fatty acid elongase 1 | Usein (30–79%) | 1 sairaudessa |
| EPG5ectopic P-granules 5 autophagy tethering factor | Usein (30–79%) | 1 sairaudessa |
| ERBB4erb-b2 receptor tyrosine kinase 4 | Usein (30–79%) | 1 sairaudessa |
| ETHE1ETHE1 persulfide dioxygenase | Usein (30–79%) | 1 sairaudessa |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Usein (30–79%) | 2 sairaudessa |
| FBXO7F-box protein 7 | Usein (30–79%) | 1 sairaudessa |
| FIG4FIG4 phosphoinositide 5-phosphatase | Usein (30–79%) | 1 sairaudessa |
| FUSFUS RNA binding protein | Usein (30–79%) | 2 sairaudessa |
| GALCgalactosylceramidase | Usein (30–79%) | 1 sairaudessa |
| GCH1GTP cyclohydrolase 1 | Usein (30–79%) | 2 sairaudessa |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Usein (30–79%) | 2 sairaudessa |
| GLE1GLE1 RNA export mediator | Usein (30–79%) | 1 sairaudessa |
| GLRX5glutaredoxin 5 | Usein (30–79%) | 2 sairaudessa |
| GLT8D1glycosyltransferase 8 domain containing 1 | Usein (30–79%) | 1 sairaudessa |
| GPT2glutamic--pyruvic transaminase 2 | Usein (30–79%) | 1 sairaudessa |
| GRID2glutamate ionotropic receptor delta type subunit 2 | Usein (30–79%) | 1 sairaudessa |
| GTPBP1GTP binding protein 1 | Usein (30–79%) | 1 sairaudessa |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Usein (30–79%) | 1 sairaudessa |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | Usein (30–79%) | 1 sairaudessa |
| IMPDH2inosine monophosphate dehydrogenase 2 | Usein (30–79%) | 1 sairaudessa |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Usein (30–79%) | 1 sairaudessa |
| JAM2junctional adhesion molecule 2 | Usein (30–79%) | 1 sairaudessa |
| KIF1Ckinesin family member 1C | Usein (30–79%) | 2 sairaudessa |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Usein (30–79%) | 1 sairaudessa |
| LMNB1lamin B1 | Usein (30–79%) | 1 sairaudessa |
| LRP12LDL receptor related protein 12 | Usein (30–79%) | 2 sairaudessa |
| MATR3matrin 3 | Usein (30–79%) | 1 sairaudessa |
| MDH2malate dehydrogenase 2 | Usein (30–79%) | 1 sairaudessa |
| MORC2MORC family CW-type zinc finger 2 | Usein (30–79%) | 3 sairaudessa |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Usein (30–79%) | 3 sairaudessa |
| MT-TEmitochondrially encoded tRNA-Glu (GAA/G) | Usein (30–79%) | 1 sairaudessa |
| MTRFRmitochondrial translation release factor in rescue | Usein (30–79%) | 2 sairaudessa |
| NDE1nudE neurodevelopment protein 1 | Usein (30–79%) | 1 sairaudessa |
| NEK1NIMA related kinase 1 | Usein (30–79%) | 1 sairaudessa |
| NOP56NOP56 ribonucleoprotein | Usein (30–79%) | 2 sairaudessa |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Usein (30–79%) | 1 sairaudessa |
| NUP54nucleoporin 54 | Usein (30–79%) | 1 sairaudessa |
| NUP62nucleoporin 62 | Usein (30–79%) | 1 sairaudessa |
| OPTNoptineurin | Usein (30–79%) | 1 sairaudessa |
| PDYNprodynorphin | Usein (30–79%) | 2 sairaudessa |
| PFN1profilin 1 | Usein (30–79%) | 1 sairaudessa |
| PGBD5piggyBac transposable element derived 5 | Usein (30–79%) | 1 sairaudessa |
| PI4KAphosphatidylinositol 4-kinase alpha | Usein (30–79%) | 1 sairaudessa |
| PLAAphospholipase A2 activating protein | Usein (30–79%) | 1 sairaudessa |
| PNPLA6patatin like domain 6, lysophospholipase | Usein (30–79%) | 3 sairaudessa |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Usein (30–79%) | 2 sairaudessa |
| POLR3ARNA polymerase III subunit A | Usein (30–79%) | 2 sairaudessa |
| POLR3BRNA polymerase III subunit B | Usein (30–79%) | 2 sairaudessa |
| PRKNparkin RBR E3 ubiquitin protein ligase | Usein (30–79%) | 1 sairaudessa |
| PRNPprion protein (Kanno blood group) | Usein (30–79%) | 1 sairaudessa |
| PRPHperipherin | Usein (30–79%) | 1 sairaudessa |
| PTRHD1peptidyl-tRNA hydrolase domain containing 1 | Usein (30–79%) | 1 sairaudessa |
| RFC1replication factor C subunit 1 | Usein (30–79%) | 1 sairaudessa |
| RUSC2RUN and SH3 domain containing 2 | Usein (30–79%) | 1 sairaudessa |
| SACSsacsin molecular chaperone | Usein (30–79%) | 2 sairaudessa |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Usein (30–79%) | 3 sairaudessa |
| SDHAF1succinate dehydrogenase complex assembly factor 1 | Usein (30–79%) | 1 sairaudessa |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Usein (30–79%) | 1 sairaudessa |
| SDHDsuccinate dehydrogenase complex subunit D | Usein (30–79%) | 1 sairaudessa |
| SETXsenataxin | Usein (30–79%) | 3 sairaudessa |
| SHMT2serine hydroxymethyltransferase 2 | Usein (30–79%) | 1 sairaudessa |
| SIGMAR1sigma receptor chaperone 1 | Usein (30–79%) | 1 sairaudessa |
| SLC19A3solute carrier family 19 member 3 | Usein (30–79%) | 1 sairaudessa |
| SLC1A2solute carrier family 1 member 2 | Usein (30–79%) | 1 sairaudessa |
| SLC39A14solute carrier family 39 member 14 | Usein (30–79%) | 2 sairaudessa |
| SLC44A1solute carrier family 44 member 1 | Usein (30–79%) | 1 sairaudessa |
| SNCAsynuclein alpha | Usein (30–79%) | 1 sairaudessa |
| SPASTspastin | Usein (30–79%) | 2 sairaudessa |
| SQSTM1sequestosome 1 | Usein (30–79%) | 2 sairaudessa |
| STUB1STIP1 homology and U-box containing protein 1 | Usein (30–79%) | 2 sairaudessa |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Usein (30–79%) | 1 sairaudessa |
| TAF15TATA-box binding protein associated factor 15 | Usein (30–79%) | 1 sairaudessa |
| TAF2TATA-box binding protein associated factor 2 | Usein (30–79%) | 2 sairaudessa |
| TARDBPTAR DNA binding protein | Usein (30–79%) | 3 sairaudessa |
| TBK1TANK binding kinase 1 | Usein (30–79%) | 2 sairaudessa |
| TGM6transglutaminase 6 | Usein (30–79%) | 2 sairaudessa |
| THtyrosine hydroxylase | Usein (30–79%) | 1 sairaudessa |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Usein (30–79%) | 1 sairaudessa |
| TPP1tripeptidyl peptidase 1 | Usein (30–79%) | 2 sairaudessa |
| TREM2triggering receptor expressed on myeloid cells 2 | Usein (30–79%) | 3 sairaudessa |
| TRMT5tRNA methyltransferase 5 | Usein (30–79%) | 1 sairaudessa |
| TSPOAP1TSPO associated protein 1 | Usein (30–79%) | 2 sairaudessa |
| TUBA4Atubulin alpha 4a | Usein (30–79%) | 1 sairaudessa |
| TWNKtwinkle mtDNA helicase | Usein (30–79%) | 2 sairaudessa |
| UBQLN2ubiquilin 2 | Usein (30–79%) | 1 sairaudessa |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Usein (30–79%) | 1 sairaudessa |
| UNC13Aunc-13 homolog A | Usein (30–79%) | 1 sairaudessa |
| VAMP1vesicle associated membrane protein 1 | Usein (30–79%) | 1 sairaudessa |
| VAPBVAMP associated protein B and C | Usein (30–79%) | 1 sairaudessa |
| WWOXWW domain containing oxidoreductase | Usein (30–79%) | 1 sairaudessa |
| ZFRzinc finger RNA binding protein | Usein (30–79%) | 1 sairaudessa |
| ZFYVE26zinc finger FYVE-type containing 26 | Usein (30–79%) | 2 sairaudessa |
| ADPRSADP-ribosylserine hydrolase | Joskus (5–29%) | 1 sairaudessa |
| ANO10anoctamin 10 | Joskus (5–29%) | 1 sairaudessa |
| ARSAarylsulfatase A | Joskus (5–29%) | 4 sairaudessa |
| ARXaristaless related homeobox | Joskus (5–29%) | 1 sairaudessa |
| BICD2BICD cargo adaptor 2 | Joskus (5–29%) | 1 sairaudessa |
| COL4A1collagen type IV alpha 1 chain | Joskus (5–29%) | 1 sairaudessa |
| COX18cytochrome c oxidase assembly factor COX18 | Joskus (5–29%) | 1 sairaudessa |
| DDCdopa decarboxylase | Joskus (5–29%) | 2 sairaudessa |
| DKK1dickkopf Wnt signaling pathway inhibitor 1 | Joskus (5–29%) | 1 sairaudessa |
| DNMT1DNA methyltransferase 1 | Joskus (5–29%) | 1 sairaudessa |
| EEF2eukaryotic translation elongation factor 2 | Joskus (5–29%) | 1 sairaudessa |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Joskus (5–29%) | 1 sairaudessa |
| FGF13fibroblast growth factor 13 | Joskus (5–29%) | 1 sairaudessa |
| GANgigaxonin | Joskus (5–29%) | 1 sairaudessa |
| GJB1gap junction protein beta 1 | Joskus (5–29%) | 2 sairaudessa |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Joskus (5–29%) | 1 sairaudessa |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Joskus (5–29%) | 1 sairaudessa |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Joskus (5–29%) | 1 sairaudessa |
| HTThuntingtin | Joskus (5–29%) | 1 sairaudessa |
| IBA57iron-sulfur cluster assembly factor IBA57 | Joskus (5–29%) | 2 sairaudessa |
| IRF2BPLinterferon regulatory factor 2 binding protein like | Joskus (5–29%) | 1 sairaudessa |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Joskus (5–29%) | 1 sairaudessa |
| KLC2kinesin light chain 2 | Joskus (5–29%) | 1 sairaudessa |
| KYkyphoscoliosis peptidase | Joskus (5–29%) | 1 sairaudessa |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Joskus (5–29%) | 1 sairaudessa |
| MFN2mitofusin 2 | Joskus (5–29%) | 2 sairaudessa |
| MPZmyelin protein zero | Joskus (5–29%) | 1 sairaudessa |
| MTTPmicrosomal triglyceride transfer protein | Joskus (5–29%) | 1 sairaudessa |
| NFU1NFU1 iron-sulfur cluster scaffold | Joskus (5–29%) | 1 sairaudessa |
| PANK2pantothenate kinase 2 | Joskus (5–29%) | 1 sairaudessa |
| PEX16peroxisomal biogenesis factor 16 | Joskus (5–29%) | 1 sairaudessa |
| PIK3R5phosphoinositide-3-kinase regulatory subunit 5 | Joskus (5–29%) | 1 sairaudessa |
| PMP22peripheral myelin protein 22 | Joskus (5–29%) | 1 sairaudessa |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Joskus (5–29%) | 1 sairaudessa |
| PSAPprosaposin | Joskus (5–29%) | 5 sairaudessa |
| RAB3ARAB3A, member RAS oncogene family | Joskus (5–29%) | 1 sairaudessa |
| RARS1arginyl-tRNA synthetase 1 | Joskus (5–29%) | 1 sairaudessa |
| RNASEH1ribonuclease H1 | Joskus (5–29%) | 1 sairaudessa |
| SAMD9Lsterile alpha motif domain containing 9 like | Joskus (5–29%) | 2 sairaudessa |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Joskus (5–29%) | 1 sairaudessa |
| SLC16A2solute carrier family 16 member 2 | Joskus (5–29%) | 2 sairaudessa |
| SLC25A46solute carrier family 25 member 46 | Joskus (5–29%) | 1 sairaudessa |
| SLC2A3solute carrier family 2 member 3 | Joskus (5–29%) | 1 sairaudessa |
| SLC9A7solute carrier family 9 member A7 | Joskus (5–29%) | 1 sairaudessa |
| SNX14sorting nexin 14 | Joskus (5–29%) | 2 sairaudessa |
| TBC1D20TBC1 domain family member 20 | Joskus (5–29%) | 1 sairaudessa |
| TMEM63Atransmembrane protein 63A | Joskus (5–29%) | 1 sairaudessa |
| TSEN15tRNA splicing endonuclease subunit 15 | Joskus (5–29%) | 2 sairaudessa |
| TSEN34tRNA splicing endonuclease subunit 34 | Joskus (5–29%) | 1 sairaudessa |
| TSEN54tRNA splicing endonuclease subunit 54 | Joskus (5–29%) | 1 sairaudessa |
| TTC19tetratricopeptide repeat domain 19 | Joskus (5–29%) | 1 sairaudessa |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Joskus (5–29%) | 1 sairaudessa |
| UGDHUDP-glucose 6-dehydrogenase | Joskus (5–29%) | 1 sairaudessa |
| VRK1VRK serine/threonine kinase 1 | Joskus (5–29%) | 1 sairaudessa |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Harvinainen (1–4 %) | 1 sairaudessa |
| FTLferritin light chain | Harvinainen (1–4 %) | 2 sairaudessa |
| AAASaladin WD repeat nucleoporin | Ei kirjattu | 1 sairaudessa |
| ADGRG1adhesion G protein-coupled receptor G1 | Ei kirjattu | 1 sairaudessa |
| APOEapolipoprotein E | Ei kirjattu | 1 sairaudessa |
| ATP2B3ATPase plasma membrane Ca2+ transporting 3 | Ei kirjattu | 1 sairaudessa |
| ATXN1ataxin 1 | Ei kirjattu | 1 sairaudessa |
| BRAT1BRCA1 associated ATM activator 1 | Ei kirjattu | 1 sairaudessa |
| CNTNAP1contactin associated protein 1 | Ei kirjattu | 1 sairaudessa |
| COQ2coenzyme Q2, polyprenyltransferase | Ei kirjattu | 1 sairaudessa |
| COXFA4cytochrome c oxidase associated subunit FA4 | Ei kirjattu | 1 sairaudessa |
| CTDP1CTD phosphatase 1 | Ei kirjattu | 1 sairaudessa |
| CTSFcathepsin F | Ei kirjattu | 1 sairaudessa |
| DDHD2DDHD domain containing 2 | Ei kirjattu | 1 sairaudessa |
| DEGS1delta 4-desaturase, sphingolipid 1 | Ei kirjattu | 1 sairaudessa |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Ei kirjattu | 1 sairaudessa |
| HTRA1HtrA serine peptidase 1 | Ei kirjattu | 1 sairaudessa |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Ei kirjattu | 1 sairaudessa |
| KDM5Clysine demethylase 5C | Ei kirjattu | 1 sairaudessa |
| MAN2B1mannosidase alpha class 2B member 1 | Ei kirjattu | 1 sairaudessa |
| MCOLN1mucolipin TRP cation channel 1 | Ei kirjattu | 1 sairaudessa |
| MECP2methyl-CpG binding protein 2 | Ei kirjattu | 1 sairaudessa |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Ei kirjattu | 1 sairaudessa |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Ei kirjattu | 1 sairaudessa |
| NEFLneurofilament light chain | Ei kirjattu | 1 sairaudessa |
| NFASCneurofascin | Ei kirjattu | 1 sairaudessa |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Ei kirjattu | 1 sairaudessa |
| OPA1OPA1 mitochondrial dynamin like GTPase | Ei kirjattu | 1 sairaudessa |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Ei kirjattu | 1 sairaudessa |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Ei kirjattu | 1 sairaudessa |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Ei kirjattu | 1 sairaudessa |
| PLA2G6phospholipase A2 group VI | Ei kirjattu | 1 sairaudessa |
| PRICKLE1prickle planar cell polarity protein 1 | Ei kirjattu | 1 sairaudessa |
| PRSS12serine protease 12 | Ei kirjattu | 1 sairaudessa |
| PSEN1presenilin 1 | Ei kirjattu | 1 sairaudessa |
| PYCR2pyrroline-5-carboxylate reductase 2 | Ei kirjattu | 1 sairaudessa |
| TYROBPtransmembrane immune signaling adaptor TYROBP | Ei kirjattu | 1 sairaudessa |
| VPS13Dvacuolar protein sorting 13 homolog D | Ei kirjattu | 1 sairaudessa |
| ZFHX3zinc finger homeobox 3 | 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.
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 2026.10.16-c6eea6bf.
Keitä autammeTieteemmeTuotteetTulokset
Kirjaudu sisäänKysyAloitaalkaen 449 $
Yksi testi. Vastauksia koko elämäksi.
Alkaen 449 $Ilmainen toimitus · Tulokset 6–8 viikossa