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Træk
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.
Resumé
- Også kaldet
- Extensor plantar reflexes, Extensor plantar response, Extensor plantar responses, Positive Babinski sign
- Kropssystem
- Abnormality of the nervous system
Babinski signHP:0003487
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Bestil min Genome Test313 gener knyttet til Babinski sign
Ændringer i disse gener forårsager sjældne tilstande, hvor Babinski sign ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ABCB7ATP binding cassette subfamily B member 7 | Altid | I 1 tilstand |
| AHDC1AT-hook DNA binding motif containing 1 | Altid | I 1 tilstand |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Altid | I 3 tilstande |
| AMPD2adenosine monophosphate deaminase 2 | Altid | I 1 tilstand |
| AP4M1adaptor related protein complex 4 subunit mu 1 | Altid | I 2 tilstande |
| ATG5autophagy related 5 | Altid | I 1 tilstand |
| ATP7AATPase copper transporting alpha | Altid | I 1 tilstand |
| BORCS8BLOC-1 related complex subunit 8 | Altid | I 1 tilstand |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Altid | I 3 tilstande |
| CCT5chaperonin containing TCP1 subunit 5 | Altid | I 2 tilstande |
| CHP1calcineurin like EF-hand protein 1 | Altid | I 1 tilstand |
| CLDN11claudin 11 | Altid | I 1 tilstand |
| CPT1Ccarnitine palmitoyltransferase 1C | Altid | I 2 tilstande |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Altid | I 2 tilstande |
| CYP2U1cytochrome P450 family 2 subfamily U member 1 | Altid | I 2 tilstande |
| DARS1aspartyl-tRNA synthetase 1 | Altid | I 1 tilstand |
| DSTYKdual serine/threonine and tyrosine protein kinase | Altid | I 1 tilstand |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Altid | I 1 tilstand |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Altid | I 1 tilstand |
| ERLIN2ER lipid raft associated 2 | Altid | I 3 tilstande |
| FBXL4F-box and leucine rich repeat protein 4 | Altid | I 1 tilstand |
| GBA2glucosylceramidase beta 2 | Altid | I 3 tilstande |
| GFAPglial fibrillary acidic protein | Altid | I 2 tilstande |
| GJC2gap junction protein gamma 2 | Altid | I 2 tilstande |
| HMBShydroxymethylbilane synthase | Altid | I 1 tilstand |
| HSPD1heat shock protein family D (Hsp60) member 1 | Altid | I 3 tilstande |
| HYCC1hyccin PI4KA lipid kinase complex subunit 1 | Altid | I 1 tilstand |
| IREB2iron responsive element binding protein 2 | Altid | I 1 tilstand |
| KCNA4potassium voltage-gated channel subfamily A member 4 | Altid | I 1 tilstand |
| KIF1Akinesin family member 1A | Altid | I 4 tilstande |
| KIF5Akinesin family member 5A | Altid | I 2 tilstande |
| KLC4kinesin light chain 4 | Altid | I 1 tilstand |
| KPNA3karyopherin subunit alpha 3 | Altid | I 2 tilstande |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Altid | I 1 tilstand |
| LYRM7LYR motif containing 7 | Altid | I 1 tilstand |
| MAGmyelin associated glycoprotein | Altid | I 2 tilstande |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Altid | I 1 tilstand |
| NEFHneurofilament heavy chain | Altid | I 2 tilstande |
| NOTCH3notch receptor 3 | Altid | I 1 tilstand |
| NT5C25'-nucleotidase, cytosolic II | Altid | I 2 tilstande |
Vis 273 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| PCYT2phosphate cytidylyltransferase 2, ethanolamine | Altid | I 1 tilstand |
| PET117PET117 cytochrome c oxidase chaperone | Altid | I 1 tilstand |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Altid | I 2 tilstande |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Altid | I 2 tilstande |
| POLGDNA polymerase gamma, catalytic subunit | Altid | I 2 tilstande |
| POLR1ARNA polymerase I subunit A | Altid | I 1 tilstand |
| REEP1receptor accessory protein 1 | Altid | I 1 tilstand |
| REEP2receptor accessory protein 2 | Altid | I 2 tilstande |
| RFC4replication factor C subunit 4 | Altid | I 1 tilstand |
| RNU2-2RNA, U2 small nuclear 2 | Altid | I 1 tilstand |
| RTN2reticulon 2 | Altid | I 3 tilstande |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Altid | I 1 tilstand |
| SELENOIselenoprotein I | Altid | I 2 tilstande |
| SLC1A4solute carrier family 1 member 4 | Altid | I 1 tilstand |
| SOD1superoxide dismutase 1 | Altid | I 2 tilstande |
| SPARTspartin | Altid | I 2 tilstande |
| SPG21SPG21 abhydrolase domain containing, maspardin | Altid | I 1 tilstand |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Altid | I 2 tilstande |
| TANGO2transport and golgi organization 2 homolog | Altid | I 2 tilstande |
| TFGtrafficking from ER to golgi regulator | Altid | I 2 tilstande |
| TMEM63Ctransmembrane protein 63C | Altid | I 1 tilstand |
| TOR1Atorsin family 1 member A | Altid | I 1 tilstand |
| TSEN2tRNA splicing endonuclease subunit 2 | Altid | I 2 tilstande |
| VCPvalosin containing protein | Altid | I 4 tilstande |
| WASHC5WASH complex subunit 5 | Altid | I 2 tilstande |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Meget ofte (80–99 %) | I 5 tilstande |
| AP4E1adaptor related protein complex 4 subunit epsilon 1 | Meget ofte (80–99 %) | I 2 tilstande |
| ATL1atlastin GTPase 1 | Meget ofte (80–99 %) | I 2 tilstande |
| ATP13A2ATPase cation transporting 13A2 | Meget ofte (80–99 %) | I 5 tilstande |
| B4GALNT1beta-1,4-N-acetyl-galactosaminyltransferase 1 | Meget ofte (80–99 %) | I 2 tilstande |
| CAPN1calpain 1 | Meget ofte (80–99 %) | I 2 tilstande |
| CYP7B1cytochrome P450 family 7 subfamily B member 1 | Meget ofte (80–99 %) | I 2 tilstande |
| DDHD1DDHD domain containing 1 | Meget ofte (80–99 %) | I 2 tilstande |
| ERLIN1ER lipid raft associated 1 | Meget ofte (80–99 %) | I 1 tilstand |
| FA2Hfatty acid 2-hydroxylase | Meget ofte (80–99 %) | I 2 tilstande |
| FXNfrataxin | Meget ofte (80–99 %) | I 3 tilstande |
| GTPBP2GTP binding protein 2 | Meget ofte (80–99 %) | I 1 tilstand |
| MTPAPmitochondrial poly(A) polymerase | Meget ofte (80–99 %) | I 2 tilstande |
| NIPA1NIPA magnesium transporter 1 | Meget ofte (80–99 %) | I 2 tilstande |
| PLP1proteolipid protein 1 | Meget ofte (80–99 %) | I 3 tilstande |
| RNF170ring finger protein 170 | Meget ofte (80–99 %) | I 1 tilstand |
| SLC33A1solute carrier family 33 member 1 | Meget ofte (80–99 %) | I 2 tilstande |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Meget ofte (80–99 %) | I 3 tilstande |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Meget ofte (80–99 %) | I 3 tilstande |
| TTPAalpha tocopherol transfer protein | Meget ofte (80–99 %) | I 1 tilstand |
| UBAP1ubiquitin associated protein 1 | Meget ofte (80–99 %) | I 2 tilstande |
| UCHL1ubiquitin C-terminal hydrolase L1 | Meget ofte (80–99 %) | I 1 tilstand |
| AARS1alanyl-tRNA synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| ABCD1ATP binding cassette subfamily D member 1 | Ofte (30–79 %) | I 1 tilstand |
| ABHD12abhydrolase domain containing 12, lysophospholipase | Ofte (30–79 %) | I 1 tilstand |
| ABHD16Aabhydrolase domain containing 16A, phospholipase | Ofte (30–79 %) | I 1 tilstand |
| ACOX1acyl-CoA oxidase 1 | Ofte (30–79 %) | I 1 tilstand |
| ADARadenosine deaminase RNA specific | Ofte (30–79 %) | I 1 tilstand |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Ofte (30–79 %) | I 2 tilstande |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Ofte (30–79 %) | I 2 tilstande |
| ANGangiogenin | Ofte (30–79 %) | I 1 tilstand |
| ANXA11annexin A11 | Ofte (30–79 %) | I 2 tilstande |
| AP4B1adaptor related protein complex 4 subunit beta 1 | Ofte (30–79 %) | I 2 tilstande |
| AP4S1adaptor related protein complex 4 subunit sigma 1 | Ofte (30–79 %) | I 2 tilstande |
| ARHGAP19Rho GTPase activating protein 19 | Ofte (30–79 %) | I 1 tilstand |
| ASPAaspartoacylase | Ofte (30–79 %) | I 2 tilstande |
| ATP6AP2ATPase H+ transporting accessory protein 2 | Ofte (30–79 %) | I 4 tilstande |
| ATXN10ataxin 10 | Ofte (30–79 %) | I 2 tilstande |
| ATXN2ataxin 2 | Ofte (30–79 %) | I 2 tilstande |
| ATXN3ataxin 3 | Ofte (30–79 %) | I 4 tilstande |
| ATXN7ataxin 7 | Ofte (30–79 %) | I 2 tilstande |
| C19orf12chromosome 19 open reading frame 12 | Ofte (30–79 %) | I 2 tilstande |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Ofte (30–79 %) | I 1 tilstand |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Ofte (30–79 %) | I 2 tilstande |
| CAMSAP1calmodulin regulated spectrin associated protein 1 | Ofte (30–79 %) | I 1 tilstand |
| CAV1caveolin 1 | Ofte (30–79 %) | I 1 tilstand |
| CCNFcyclin F | Ofte (30–79 %) | I 1 tilstand |
| CFAP410cilia and flagella associated protein 410 | Ofte (30–79 %) | I 1 tilstand |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Ofte (30–79 %) | I 3 tilstande |
| CHMP2Bcharged multivesicular body protein 2B | Ofte (30–79 %) | I 2 tilstande |
| COQ4coenzyme Q4 | Ofte (30–79 %) | I 1 tilstand |
| COQ7coenzyme Q7, hydroxylase | Ofte (30–79 %) | I 1 tilstand |
| COX20cytochrome c oxidase assembly factor COX20 | Ofte (30–79 %) | I 1 tilstand |
| CWF19L1CWF19 like cell cycle control factor 1 | Ofte (30–79 %) | I 1 tilstand |
| DAOD-amino acid oxidase | Ofte (30–79 %) | I 1 tilstand |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 2 tilstande |
| DCTN1dynactin subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| DLATdihydrolipoamide S-acetyltransferase | Ofte (30–79 %) | I 1 tilstand |
| DNAJC3DnaJ heat shock protein family (Hsp40) member C3 | Ofte (30–79 %) | I 2 tilstande |
| DPM3dolichyl-phosphate mannosyltransferase subunit 3, regulatory | Ofte (30–79 %) | I 1 tilstand |
| DTYMKdeoxythymidylate kinase | Ofte (30–79 %) | I 1 tilstand |
| EARS2glutamyl-tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| ELOVL1ELOVL fatty acid elongase 1 | Ofte (30–79 %) | I 1 tilstand |
| EPG5ectopic P-granules 5 autophagy tethering factor | Ofte (30–79 %) | I 1 tilstand |
| ERBB4erb-b2 receptor tyrosine kinase 4 | Ofte (30–79 %) | I 1 tilstand |
| ETHE1ETHE1 persulfide dioxygenase | Ofte (30–79 %) | I 1 tilstand |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 2 tilstande |
| FBXO7F-box protein 7 | Ofte (30–79 %) | I 1 tilstand |
| FIG4FIG4 phosphoinositide 5-phosphatase | Ofte (30–79 %) | I 1 tilstand |
| FUSFUS RNA binding protein | Ofte (30–79 %) | I 2 tilstande |
| GALCgalactosylceramidase | Ofte (30–79 %) | I 1 tilstand |
| GCH1GTP cyclohydrolase 1 | Ofte (30–79 %) | I 2 tilstande |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Ofte (30–79 %) | I 2 tilstande |
| GLE1GLE1 RNA export mediator | Ofte (30–79 %) | I 1 tilstand |
| GLRX5glutaredoxin 5 | Ofte (30–79 %) | I 2 tilstande |
| GLT8D1glycosyltransferase 8 domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| GPT2glutamic--pyruvic transaminase 2 | Ofte (30–79 %) | I 1 tilstand |
| GRID2glutamate ionotropic receptor delta type subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| GTPBP1GTP binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Ofte (30–79 %) | I 1 tilstand |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | Ofte (30–79 %) | I 1 tilstand |
| IMPDH2inosine monophosphate dehydrogenase 2 | Ofte (30–79 %) | I 1 tilstand |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Ofte (30–79 %) | I 1 tilstand |
| JAM2junctional adhesion molecule 2 | Ofte (30–79 %) | I 1 tilstand |
| KIF1Ckinesin family member 1C | Ofte (30–79 %) | I 2 tilstande |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Ofte (30–79 %) | I 1 tilstand |
| LMNB1lamin B1 | Ofte (30–79 %) | I 1 tilstand |
| LRP12LDL receptor related protein 12 | Ofte (30–79 %) | I 2 tilstande |
| MATR3matrin 3 | Ofte (30–79 %) | I 1 tilstand |
| MDH2malate dehydrogenase 2 | Ofte (30–79 %) | I 1 tilstand |
| MORC2MORC family CW-type zinc finger 2 | Ofte (30–79 %) | I 3 tilstande |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Ofte (30–79 %) | I 3 tilstande |
| MT-TEmitochondrially encoded tRNA-Glu (GAA/G) | Ofte (30–79 %) | I 1 tilstand |
| MTRFRmitochondrial translation release factor in rescue | Ofte (30–79 %) | I 2 tilstande |
| NDE1nudE neurodevelopment protein 1 | Ofte (30–79 %) | I 1 tilstand |
| NEK1NIMA related kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| NOP56NOP56 ribonucleoprotein | Ofte (30–79 %) | I 2 tilstande |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Ofte (30–79 %) | I 1 tilstand |
| NUP54nucleoporin 54 | Ofte (30–79 %) | I 1 tilstand |
| NUP62nucleoporin 62 | Ofte (30–79 %) | I 1 tilstand |
| OPTNoptineurin | Ofte (30–79 %) | I 1 tilstand |
| PDYNprodynorphin | Ofte (30–79 %) | I 2 tilstande |
| PFN1profilin 1 | Ofte (30–79 %) | I 1 tilstand |
| PGBD5piggyBac transposable element derived 5 | Ofte (30–79 %) | I 1 tilstand |
| PI4KAphosphatidylinositol 4-kinase alpha | Ofte (30–79 %) | I 1 tilstand |
| PLAAphospholipase A2 activating protein | Ofte (30–79 %) | I 1 tilstand |
| PNPLA6patatin like domain 6, lysophospholipase | Ofte (30–79 %) | I 3 tilstande |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Ofte (30–79 %) | I 2 tilstande |
| POLR3ARNA polymerase III subunit A | Ofte (30–79 %) | I 2 tilstande |
| POLR3BRNA polymerase III subunit B | Ofte (30–79 %) | I 2 tilstande |
| PRKNparkin RBR E3 ubiquitin protein ligase | Ofte (30–79 %) | I 1 tilstand |
| PRNPprion protein (Kanno blood group) | Ofte (30–79 %) | I 1 tilstand |
| PRPHperipherin | Ofte (30–79 %) | I 1 tilstand |
| PTRHD1peptidyl-tRNA hydrolase domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| RFC1replication factor C subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| RUSC2RUN and SH3 domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| SACSsacsin molecular chaperone | Ofte (30–79 %) | I 2 tilstande |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Ofte (30–79 %) | I 3 tilstande |
| SDHAF1succinate dehydrogenase complex assembly factor 1 | Ofte (30–79 %) | I 1 tilstand |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Ofte (30–79 %) | I 1 tilstand |
| SDHDsuccinate dehydrogenase complex subunit D | Ofte (30–79 %) | I 1 tilstand |
| SETXsenataxin | Ofte (30–79 %) | I 3 tilstande |
| SHMT2serine hydroxymethyltransferase 2 | Ofte (30–79 %) | I 1 tilstand |
| SIGMAR1sigma receptor chaperone 1 | Ofte (30–79 %) | I 1 tilstand |
| SLC19A3solute carrier family 19 member 3 | Ofte (30–79 %) | I 1 tilstand |
| SLC1A2solute carrier family 1 member 2 | Ofte (30–79 %) | I 1 tilstand |
| SLC39A14solute carrier family 39 member 14 | Ofte (30–79 %) | I 2 tilstande |
| SLC44A1solute carrier family 44 member 1 | Ofte (30–79 %) | I 1 tilstand |
| SNCAsynuclein alpha | Ofte (30–79 %) | I 1 tilstand |
| SPASTspastin | Ofte (30–79 %) | I 2 tilstande |
| SQSTM1sequestosome 1 | Ofte (30–79 %) | I 2 tilstande |
| STUB1STIP1 homology and U-box containing protein 1 | Ofte (30–79 %) | I 2 tilstande |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Ofte (30–79 %) | I 1 tilstand |
| TAF15TATA-box binding protein associated factor 15 | Ofte (30–79 %) | I 1 tilstand |
| TAF2TATA-box binding protein associated factor 2 | Ofte (30–79 %) | I 2 tilstande |
| TARDBPTAR DNA binding protein | Ofte (30–79 %) | I 3 tilstande |
| TBK1TANK binding kinase 1 | Ofte (30–79 %) | I 2 tilstande |
| TGM6transglutaminase 6 | Ofte (30–79 %) | I 2 tilstande |
| THtyrosine hydroxylase | Ofte (30–79 %) | I 1 tilstand |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Ofte (30–79 %) | I 1 tilstand |
| TPP1tripeptidyl peptidase 1 | Ofte (30–79 %) | I 2 tilstande |
| TREM2triggering receptor expressed on myeloid cells 2 | Ofte (30–79 %) | I 3 tilstande |
| TRMT5tRNA methyltransferase 5 | Ofte (30–79 %) | I 1 tilstand |
| TSPOAP1TSPO associated protein 1 | Ofte (30–79 %) | I 2 tilstande |
| TUBA4Atubulin alpha 4a | Ofte (30–79 %) | I 1 tilstand |
| TWNKtwinkle mtDNA helicase | Ofte (30–79 %) | I 2 tilstande |
| UBQLN2ubiquilin 2 | Ofte (30–79 %) | I 1 tilstand |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| UNC13Aunc-13 homolog A | Ofte (30–79 %) | I 1 tilstand |
| VAMP1vesicle associated membrane protein 1 | Ofte (30–79 %) | I 1 tilstand |
| VAPBVAMP associated protein B and C | Ofte (30–79 %) | I 1 tilstand |
| WWOXWW domain containing oxidoreductase | Ofte (30–79 %) | I 1 tilstand |
| ZFRzinc finger RNA binding protein | Ofte (30–79 %) | I 1 tilstand |
| ZFYVE26zinc finger FYVE-type containing 26 | Ofte (30–79 %) | I 2 tilstande |
| ADPRSADP-ribosylserine hydrolase | Nogle gange (5–29 %) | I 1 tilstand |
| ANO10anoctamin 10 | Nogle gange (5–29 %) | I 1 tilstand |
| ARSAarylsulfatase A | Nogle gange (5–29 %) | I 4 tilstande |
| ARXaristaless related homeobox | Nogle gange (5–29 %) | I 1 tilstand |
| BICD2BICD cargo adaptor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| COL4A1collagen type IV alpha 1 chain | Nogle gange (5–29 %) | I 1 tilstand |
| COX18cytochrome c oxidase assembly factor COX18 | Nogle gange (5–29 %) | I 1 tilstand |
| DDCdopa decarboxylase | Nogle gange (5–29 %) | I 2 tilstande |
| DKK1dickkopf Wnt signaling pathway inhibitor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DNMT1DNA methyltransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| EEF2eukaryotic translation elongation factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| FGF13fibroblast growth factor 13 | Nogle gange (5–29 %) | I 1 tilstand |
| GANgigaxonin | Nogle gange (5–29 %) | I 1 tilstand |
| GJB1gap junction protein beta 1 | Nogle gange (5–29 %) | I 2 tilstande |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Nogle gange (5–29 %) | I 1 tilstand |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Nogle gange (5–29 %) | I 1 tilstand |
| HTThuntingtin | Nogle gange (5–29 %) | I 1 tilstand |
| IBA57iron-sulfur cluster assembly factor IBA57 | Nogle gange (5–29 %) | I 2 tilstande |
| IRF2BPLinterferon regulatory factor 2 binding protein like | Nogle gange (5–29 %) | I 1 tilstand |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Nogle gange (5–29 %) | I 1 tilstand |
| KLC2kinesin light chain 2 | Nogle gange (5–29 %) | I 1 tilstand |
| KYkyphoscoliosis peptidase | Nogle gange (5–29 %) | I 1 tilstand |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Nogle gange (5–29 %) | I 1 tilstand |
| MFN2mitofusin 2 | Nogle gange (5–29 %) | I 2 tilstande |
| MPZmyelin protein zero | Nogle gange (5–29 %) | I 1 tilstand |
| MTTPmicrosomal triglyceride transfer protein | Nogle gange (5–29 %) | I 1 tilstand |
| NFU1NFU1 iron-sulfur cluster scaffold | Nogle gange (5–29 %) | I 1 tilstand |
| PANK2pantothenate kinase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PEX16peroxisomal biogenesis factor 16 | Nogle gange (5–29 %) | I 1 tilstand |
| PIK3R5phosphoinositide-3-kinase regulatory subunit 5 | Nogle gange (5–29 %) | I 1 tilstand |
| PMP22peripheral myelin protein 22 | Nogle gange (5–29 %) | I 1 tilstand |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PSAPprosaposin | Nogle gange (5–29 %) | I 5 tilstande |
| RAB3ARAB3A, member RAS oncogene family | Nogle gange (5–29 %) | I 1 tilstand |
| RARS1arginyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RNASEH1ribonuclease H1 | Nogle gange (5–29 %) | I 1 tilstand |
| SAMD9Lsterile alpha motif domain containing 9 like | Nogle gange (5–29 %) | I 2 tilstande |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Nogle gange (5–29 %) | I 1 tilstand |
| SLC16A2solute carrier family 16 member 2 | Nogle gange (5–29 %) | I 2 tilstande |
| SLC25A46solute carrier family 25 member 46 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC2A3solute carrier family 2 member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC9A7solute carrier family 9 member A7 | Nogle gange (5–29 %) | I 1 tilstand |
| SNX14sorting nexin 14 | Nogle gange (5–29 %) | I 2 tilstande |
| TBC1D20TBC1 domain family member 20 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM63Atransmembrane protein 63A | Nogle gange (5–29 %) | I 1 tilstand |
| TSEN15tRNA splicing endonuclease subunit 15 | Nogle gange (5–29 %) | I 2 tilstande |
| TSEN34tRNA splicing endonuclease subunit 34 | Nogle gange (5–29 %) | I 1 tilstand |
| TSEN54tRNA splicing endonuclease subunit 54 | Nogle gange (5–29 %) | I 1 tilstand |
| TTC19tetratricopeptide repeat domain 19 | Nogle gange (5–29 %) | I 1 tilstand |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Nogle gange (5–29 %) | I 1 tilstand |
| UGDHUDP-glucose 6-dehydrogenase | Nogle gange (5–29 %) | I 1 tilstand |
| VRK1VRK serine/threonine kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Sjældent (1–4%) | I 1 tilstand |
| FTLferritin light chain | Sjældent (1–4%) | I 2 tilstande |
| AAASaladin WD repeat nucleoporin | Ikke registreret | I 1 tilstand |
| ADGRG1adhesion G protein-coupled receptor G1 | Ikke registreret | I 1 tilstand |
| APOEapolipoprotein E | Ikke registreret | I 1 tilstand |
| ATP2B3ATPase plasma membrane Ca2+ transporting 3 | Ikke registreret | I 1 tilstand |
| ATXN1ataxin 1 | Ikke registreret | I 1 tilstand |
| BRAT1BRCA1 associated ATM activator 1 | Ikke registreret | I 1 tilstand |
| CNTNAP1contactin associated protein 1 | Ikke registreret | I 1 tilstand |
| COQ2coenzyme Q2, polyprenyltransferase | Ikke registreret | I 1 tilstand |
| COXFA4cytochrome c oxidase associated subunit FA4 | Ikke registreret | I 1 tilstand |
| CTDP1CTD phosphatase 1 | Ikke registreret | I 1 tilstand |
| CTSFcathepsin F | Ikke registreret | I 1 tilstand |
| DDHD2DDHD domain containing 2 | Ikke registreret | I 1 tilstand |
| DEGS1delta 4-desaturase, sphingolipid 1 | Ikke registreret | I 1 tilstand |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Ikke registreret | I 1 tilstand |
| HTRA1HtrA serine peptidase 1 | Ikke registreret | I 1 tilstand |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Ikke registreret | I 1 tilstand |
| KDM5Clysine demethylase 5C | Ikke registreret | I 1 tilstand |
| MAN2B1mannosidase alpha class 2B member 1 | Ikke registreret | I 1 tilstand |
| MCOLN1mucolipin TRP cation channel 1 | Ikke registreret | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Ikke registreret | I 1 tilstand |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Ikke registreret | I 1 tilstand |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Ikke registreret | I 1 tilstand |
| NEFLneurofilament light chain | Ikke registreret | I 1 tilstand |
| NFASCneurofascin | Ikke registreret | I 1 tilstand |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Ikke registreret | I 1 tilstand |
| OPA1OPA1 mitochondrial dynamin like GTPase | Ikke registreret | I 1 tilstand |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Ikke registreret | I 1 tilstand |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Ikke registreret | I 1 tilstand |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Ikke registreret | I 1 tilstand |
| PLA2G6phospholipase A2 group VI | Ikke registreret | I 1 tilstand |
| PRICKLE1prickle planar cell polarity protein 1 | Ikke registreret | I 1 tilstand |
| PRSS12serine protease 12 | Ikke registreret | I 1 tilstand |
| PSEN1presenilin 1 | Ikke registreret | I 1 tilstand |
| PYCR2pyrroline-5-carboxylate reductase 2 | Ikke registreret | I 1 tilstand |
| TYROBPtransmembrane immune signaling adaptor TYROBP | Ikke registreret | I 1 tilstand |
| VPS13Dvacuolar protein sorting 13 homolog D | Ikke registreret | I 1 tilstand |
| ZFHX3zinc finger homeobox 3 | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
Bredere træk
Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
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