Cecha
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.
Podsumowanie
- Znana także jako
- Extensor plantar reflexes, Extensor plantar response, Extensor plantar responses, Positive Babinski sign
- Układ organizmu
- Abnormality of the nervous system
Genom referencyjnyGRCh38hg38
Pozycje na stronach genów i wariantów zależą od tego wyboru, w tej przeglądarce.
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Zamawiam Genome Test313 genów powiązanych z Babinski sign
Zmiany w tych genach powodują rzadkie choroby, w których występuje Babinski sign. Większość osób z tą cechą nie ma żadnej z tych chorób, a gen z tej listy nic nie mówi o czyimkolwiek własnym genomie.
| Gen | Jak często występuje | Choroby |
|---|---|---|
| ABCB7ATP binding cassette subfamily B member 7 | Zawsze | W 1 chorobie |
| AHDC1AT-hook DNA binding motif containing 1 | Zawsze | W 1 chorobie |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Zawsze | W 3 chorobach |
| AMPD2adenosine monophosphate deaminase 2 | Zawsze | W 1 chorobie |
| AP4M1adaptor related protein complex 4 subunit mu 1 | Zawsze | W 2 chorobach |
| ATG5autophagy related 5 | Zawsze | W 1 chorobie |
| ATP7AATPase copper transporting alpha | Zawsze | W 1 chorobie |
| BORCS8BLOC-1 related complex subunit 8 | Zawsze | W 1 chorobie |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Zawsze | W 3 chorobach |
| CCT5chaperonin containing TCP1 subunit 5 | Zawsze | W 2 chorobach |
| CHP1calcineurin like EF-hand protein 1 | Zawsze | W 1 chorobie |
| CLDN11claudin 11 | Zawsze | W 1 chorobie |
| CPT1Ccarnitine palmitoyltransferase 1C | Zawsze | W 2 chorobach |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Zawsze | W 2 chorobach |
| CYP2U1cytochrome P450 family 2 subfamily U member 1 | Zawsze | W 2 chorobach |
| DARS1aspartyl-tRNA synthetase 1 | Zawsze | W 1 chorobie |
| DSTYKdual serine/threonine and tyrosine protein kinase | Zawsze | W 1 chorobie |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Zawsze | W 1 chorobie |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Zawsze | W 1 chorobie |
| ERLIN2ER lipid raft associated 2 | Zawsze | W 3 chorobach |
| FBXL4F-box and leucine rich repeat protein 4 | Zawsze | W 1 chorobie |
| GBA2glucosylceramidase beta 2 | Zawsze | W 3 chorobach |
| GFAPglial fibrillary acidic protein | Zawsze | W 2 chorobach |
| GJC2gap junction protein gamma 2 | Zawsze | W 2 chorobach |
| HMBShydroxymethylbilane synthase | Zawsze | W 1 chorobie |
| HSPD1heat shock protein family D (Hsp60) member 1 | Zawsze | W 3 chorobach |
| HYCC1hyccin PI4KA lipid kinase complex subunit 1 | Zawsze | W 1 chorobie |
| IREB2iron responsive element binding protein 2 | Zawsze | W 1 chorobie |
| KCNA4potassium voltage-gated channel subfamily A member 4 | Zawsze | W 1 chorobie |
| KIF1Akinesin family member 1A | Zawsze | W 4 chorobach |
| KIF5Akinesin family member 5A | Zawsze | W 2 chorobach |
| KLC4kinesin light chain 4 | Zawsze | W 1 chorobie |
| KPNA3karyopherin subunit alpha 3 | Zawsze | W 2 chorobach |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Zawsze | W 1 chorobie |
| LYRM7LYR motif containing 7 | Zawsze | W 1 chorobie |
| MAGmyelin associated glycoprotein | Zawsze | W 2 chorobach |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Zawsze | W 1 chorobie |
| NEFHneurofilament heavy chain | Zawsze | W 2 chorobach |
| NOTCH3notch receptor 3 | Zawsze | W 1 chorobie |
| NT5C25'-nucleotidase, cytosolic II | Zawsze | W 2 chorobach |
Pokaż jeszcze 273 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| PCYT2phosphate cytidylyltransferase 2, ethanolamine | Zawsze | W 1 chorobie |
| PET117PET117 cytochrome c oxidase chaperone | Zawsze | W 1 chorobie |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Zawsze | W 2 chorobach |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Zawsze | W 2 chorobach |
| POLGDNA polymerase gamma, catalytic subunit | Zawsze | W 2 chorobach |
| POLR1ARNA polymerase I subunit A | Zawsze | W 1 chorobie |
| REEP1receptor accessory protein 1 | Zawsze | W 1 chorobie |
| REEP2receptor accessory protein 2 | Zawsze | W 2 chorobach |
| RFC4replication factor C subunit 4 | Zawsze | W 1 chorobie |
| RNU2-2RNA, U2 small nuclear 2 | Zawsze | W 1 chorobie |
| RTN2reticulon 2 | Zawsze | W 3 chorobach |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Zawsze | W 1 chorobie |
| SELENOIselenoprotein I | Zawsze | W 2 chorobach |
| SLC1A4solute carrier family 1 member 4 | Zawsze | W 1 chorobie |
| SOD1superoxide dismutase 1 | Zawsze | W 2 chorobach |
| SPARTspartin | Zawsze | W 2 chorobach |
| SPG21SPG21 abhydrolase domain containing, maspardin | Zawsze | W 1 chorobie |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Zawsze | W 2 chorobach |
| TANGO2transport and golgi organization 2 homolog | Zawsze | W 2 chorobach |
| TFGtrafficking from ER to golgi regulator | Zawsze | W 2 chorobach |
| TMEM63Ctransmembrane protein 63C | Zawsze | W 1 chorobie |
| TOR1Atorsin family 1 member A | Zawsze | W 1 chorobie |
| TSEN2tRNA splicing endonuclease subunit 2 | Zawsze | W 2 chorobach |
| VCPvalosin containing protein | Zawsze | W 4 chorobach |
| WASHC5WASH complex subunit 5 | Zawsze | W 2 chorobach |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Bardzo często (80–99%) | W 5 chorobach |
| AP4E1adaptor related protein complex 4 subunit epsilon 1 | Bardzo często (80–99%) | W 2 chorobach |
| ATL1atlastin GTPase 1 | Bardzo często (80–99%) | W 2 chorobach |
| ATP13A2ATPase cation transporting 13A2 | Bardzo często (80–99%) | W 5 chorobach |
| B4GALNT1beta-1,4-N-acetyl-galactosaminyltransferase 1 | Bardzo często (80–99%) | W 2 chorobach |
| CAPN1calpain 1 | Bardzo często (80–99%) | W 2 chorobach |
| CYP7B1cytochrome P450 family 7 subfamily B member 1 | Bardzo często (80–99%) | W 2 chorobach |
| DDHD1DDHD domain containing 1 | Bardzo często (80–99%) | W 2 chorobach |
| ERLIN1ER lipid raft associated 1 | Bardzo często (80–99%) | W 1 chorobie |
| FA2Hfatty acid 2-hydroxylase | Bardzo często (80–99%) | W 2 chorobach |
| FXNfrataxin | Bardzo często (80–99%) | W 3 chorobach |
| GTPBP2GTP binding protein 2 | Bardzo często (80–99%) | W 1 chorobie |
| MTPAPmitochondrial poly(A) polymerase | Bardzo często (80–99%) | W 2 chorobach |
| NIPA1NIPA magnesium transporter 1 | Bardzo często (80–99%) | W 2 chorobach |
| PLP1proteolipid protein 1 | Bardzo często (80–99%) | W 3 chorobach |
| RNF170ring finger protein 170 | Bardzo często (80–99%) | W 1 chorobie |
| SLC33A1solute carrier family 33 member 1 | Bardzo często (80–99%) | W 2 chorobach |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Bardzo często (80–99%) | W 3 chorobach |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Bardzo często (80–99%) | W 3 chorobach |
| TTPAalpha tocopherol transfer protein | Bardzo często (80–99%) | W 1 chorobie |
| UBAP1ubiquitin associated protein 1 | Bardzo często (80–99%) | W 2 chorobach |
| UCHL1ubiquitin C-terminal hydrolase L1 | Bardzo często (80–99%) | W 1 chorobie |
| AARS1alanyl-tRNA synthetase 1 | Często (30–79%) | W 1 chorobie |
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Często (30–79%) | W 1 chorobie |
| ABCD1ATP binding cassette subfamily D member 1 | Często (30–79%) | W 1 chorobie |
| ABHD12abhydrolase domain containing 12, lysophospholipase | Często (30–79%) | W 1 chorobie |
| ABHD16Aabhydrolase domain containing 16A, phospholipase | Często (30–79%) | W 1 chorobie |
| ACOX1acyl-CoA oxidase 1 | Często (30–79%) | W 1 chorobie |
| ADARadenosine deaminase RNA specific | Często (30–79%) | W 1 chorobie |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Często (30–79%) | W 2 chorobach |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Często (30–79%) | W 2 chorobach |
| ANGangiogenin | Często (30–79%) | W 1 chorobie |
| ANXA11annexin A11 | Często (30–79%) | W 2 chorobach |
| AP4B1adaptor related protein complex 4 subunit beta 1 | Często (30–79%) | W 2 chorobach |
| AP4S1adaptor related protein complex 4 subunit sigma 1 | Często (30–79%) | W 2 chorobach |
| ARHGAP19Rho GTPase activating protein 19 | Często (30–79%) | W 1 chorobie |
| ASPAaspartoacylase | Często (30–79%) | W 2 chorobach |
| ATP6AP2ATPase H+ transporting accessory protein 2 | Często (30–79%) | W 4 chorobach |
| ATXN10ataxin 10 | Często (30–79%) | W 2 chorobach |
| ATXN2ataxin 2 | Często (30–79%) | W 2 chorobach |
| ATXN3ataxin 3 | Często (30–79%) | W 4 chorobach |
| ATXN7ataxin 7 | Często (30–79%) | W 2 chorobach |
| C19orf12chromosome 19 open reading frame 12 | Często (30–79%) | W 2 chorobach |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Często (30–79%) | W 1 chorobie |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Często (30–79%) | W 2 chorobach |
| CAMSAP1calmodulin regulated spectrin associated protein 1 | Często (30–79%) | W 1 chorobie |
| CAV1caveolin 1 | Często (30–79%) | W 1 chorobie |
| CCNFcyclin F | Często (30–79%) | W 1 chorobie |
| CFAP410cilia and flagella associated protein 410 | Często (30–79%) | W 1 chorobie |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Często (30–79%) | W 3 chorobach |
| CHMP2Bcharged multivesicular body protein 2B | Często (30–79%) | W 2 chorobach |
| COQ4coenzyme Q4 | Często (30–79%) | W 1 chorobie |
| COQ7coenzyme Q7, hydroxylase | Często (30–79%) | W 1 chorobie |
| COX20cytochrome c oxidase assembly factor COX20 | Często (30–79%) | W 1 chorobie |
| CWF19L1CWF19 like cell cycle control factor 1 | Często (30–79%) | W 1 chorobie |
| DAOD-amino acid oxidase | Często (30–79%) | W 1 chorobie |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Często (30–79%) | W 2 chorobach |
| DCTN1dynactin subunit 1 | Często (30–79%) | W 1 chorobie |
| DLATdihydrolipoamide S-acetyltransferase | Często (30–79%) | W 1 chorobie |
| DNAJC3DnaJ heat shock protein family (Hsp40) member C3 | Często (30–79%) | W 2 chorobach |
| DPM3dolichyl-phosphate mannosyltransferase subunit 3, regulatory | Często (30–79%) | W 1 chorobie |
| DTYMKdeoxythymidylate kinase | Często (30–79%) | W 1 chorobie |
| EARS2glutamyl-tRNA synthetase 2, mitochondrial | Często (30–79%) | W 1 chorobie |
| ELOVL1ELOVL fatty acid elongase 1 | Często (30–79%) | W 1 chorobie |
| EPG5ectopic P-granules 5 autophagy tethering factor | Często (30–79%) | W 1 chorobie |
| ERBB4erb-b2 receptor tyrosine kinase 4 | Często (30–79%) | W 1 chorobie |
| ETHE1ETHE1 persulfide dioxygenase | Często (30–79%) | W 1 chorobie |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Często (30–79%) | W 2 chorobach |
| FBXO7F-box protein 7 | Często (30–79%) | W 1 chorobie |
| FIG4FIG4 phosphoinositide 5-phosphatase | Często (30–79%) | W 1 chorobie |
| FUSFUS RNA binding protein | Często (30–79%) | W 2 chorobach |
| GALCgalactosylceramidase | Często (30–79%) | W 1 chorobie |
| GCH1GTP cyclohydrolase 1 | Często (30–79%) | W 2 chorobach |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Często (30–79%) | W 2 chorobach |
| GLE1GLE1 RNA export mediator | Często (30–79%) | W 1 chorobie |
| GLRX5glutaredoxin 5 | Często (30–79%) | W 2 chorobach |
| GLT8D1glycosyltransferase 8 domain containing 1 | Często (30–79%) | W 1 chorobie |
| GPT2glutamic--pyruvic transaminase 2 | Często (30–79%) | W 1 chorobie |
| GRID2glutamate ionotropic receptor delta type subunit 2 | Często (30–79%) | W 1 chorobie |
| GTPBP1GTP binding protein 1 | Często (30–79%) | W 1 chorobie |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Często (30–79%) | W 1 chorobie |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | Często (30–79%) | W 1 chorobie |
| IMPDH2inosine monophosphate dehydrogenase 2 | Często (30–79%) | W 1 chorobie |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Często (30–79%) | W 1 chorobie |
| JAM2junctional adhesion molecule 2 | Często (30–79%) | W 1 chorobie |
| KIF1Ckinesin family member 1C | Często (30–79%) | W 2 chorobach |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Często (30–79%) | W 1 chorobie |
| LMNB1lamin B1 | Często (30–79%) | W 1 chorobie |
| LRP12LDL receptor related protein 12 | Często (30–79%) | W 2 chorobach |
| MATR3matrin 3 | Często (30–79%) | W 1 chorobie |
| MDH2malate dehydrogenase 2 | Często (30–79%) | W 1 chorobie |
| MORC2MORC family CW-type zinc finger 2 | Często (30–79%) | W 3 chorobach |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Często (30–79%) | W 3 chorobach |
| MT-TEmitochondrially encoded tRNA-Glu (GAA/G) | Często (30–79%) | W 1 chorobie |
| MTRFRmitochondrial translation release factor in rescue | Często (30–79%) | W 2 chorobach |
| NDE1nudE neurodevelopment protein 1 | Często (30–79%) | W 1 chorobie |
| NEK1NIMA related kinase 1 | Często (30–79%) | W 1 chorobie |
| NOP56NOP56 ribonucleoprotein | Często (30–79%) | W 2 chorobach |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Często (30–79%) | W 1 chorobie |
| NUP54nucleoporin 54 | Często (30–79%) | W 1 chorobie |
| NUP62nucleoporin 62 | Często (30–79%) | W 1 chorobie |
| OPTNoptineurin | Często (30–79%) | W 1 chorobie |
| PDYNprodynorphin | Często (30–79%) | W 2 chorobach |
| PFN1profilin 1 | Często (30–79%) | W 1 chorobie |
| PGBD5piggyBac transposable element derived 5 | Często (30–79%) | W 1 chorobie |
| PI4KAphosphatidylinositol 4-kinase alpha | Często (30–79%) | W 1 chorobie |
| PLAAphospholipase A2 activating protein | Często (30–79%) | W 1 chorobie |
| PNPLA6patatin like domain 6, lysophospholipase | Często (30–79%) | W 3 chorobach |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Często (30–79%) | W 2 chorobach |
| POLR3ARNA polymerase III subunit A | Często (30–79%) | W 2 chorobach |
| POLR3BRNA polymerase III subunit B | Często (30–79%) | W 2 chorobach |
| PRKNparkin RBR E3 ubiquitin protein ligase | Często (30–79%) | W 1 chorobie |
| PRNPprion protein (Kanno blood group) | Często (30–79%) | W 1 chorobie |
| PRPHperipherin | Często (30–79%) | W 1 chorobie |
| PTRHD1peptidyl-tRNA hydrolase domain containing 1 | Często (30–79%) | W 1 chorobie |
| RFC1replication factor C subunit 1 | Często (30–79%) | W 1 chorobie |
| RUSC2RUN and SH3 domain containing 2 | Często (30–79%) | W 1 chorobie |
| SACSsacsin molecular chaperone | Często (30–79%) | W 2 chorobach |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Często (30–79%) | W 3 chorobach |
| SDHAF1succinate dehydrogenase complex assembly factor 1 | Często (30–79%) | W 1 chorobie |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Często (30–79%) | W 1 chorobie |
| SDHDsuccinate dehydrogenase complex subunit D | Często (30–79%) | W 1 chorobie |
| SETXsenataxin | Często (30–79%) | W 3 chorobach |
| SHMT2serine hydroxymethyltransferase 2 | Często (30–79%) | W 1 chorobie |
| SIGMAR1sigma receptor chaperone 1 | Często (30–79%) | W 1 chorobie |
| SLC19A3solute carrier family 19 member 3 | Często (30–79%) | W 1 chorobie |
| SLC1A2solute carrier family 1 member 2 | Często (30–79%) | W 1 chorobie |
| SLC39A14solute carrier family 39 member 14 | Często (30–79%) | W 2 chorobach |
| SLC44A1solute carrier family 44 member 1 | Często (30–79%) | W 1 chorobie |
| SNCAsynuclein alpha | Często (30–79%) | W 1 chorobie |
| SPASTspastin | Często (30–79%) | W 2 chorobach |
| SQSTM1sequestosome 1 | Często (30–79%) | W 2 chorobach |
| STUB1STIP1 homology and U-box containing protein 1 | Często (30–79%) | W 2 chorobach |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Często (30–79%) | W 1 chorobie |
| TAF15TATA-box binding protein associated factor 15 | Często (30–79%) | W 1 chorobie |
| TAF2TATA-box binding protein associated factor 2 | Często (30–79%) | W 2 chorobach |
| TARDBPTAR DNA binding protein | Często (30–79%) | W 3 chorobach |
| TBK1TANK binding kinase 1 | Często (30–79%) | W 2 chorobach |
| TGM6transglutaminase 6 | Często (30–79%) | W 2 chorobach |
| THtyrosine hydroxylase | Często (30–79%) | W 1 chorobie |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Często (30–79%) | W 1 chorobie |
| TPP1tripeptidyl peptidase 1 | Często (30–79%) | W 2 chorobach |
| TREM2triggering receptor expressed on myeloid cells 2 | Często (30–79%) | W 3 chorobach |
| TRMT5tRNA methyltransferase 5 | Często (30–79%) | W 1 chorobie |
| TSPOAP1TSPO associated protein 1 | Często (30–79%) | W 2 chorobach |
| TUBA4Atubulin alpha 4a | Często (30–79%) | W 1 chorobie |
| TWNKtwinkle mtDNA helicase | Często (30–79%) | W 2 chorobach |
| UBQLN2ubiquilin 2 | Często (30–79%) | W 1 chorobie |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Często (30–79%) | W 1 chorobie |
| UNC13Aunc-13 homolog A | Często (30–79%) | W 1 chorobie |
| VAMP1vesicle associated membrane protein 1 | Często (30–79%) | W 1 chorobie |
| VAPBVAMP associated protein B and C | Często (30–79%) | W 1 chorobie |
| WWOXWW domain containing oxidoreductase | Często (30–79%) | W 1 chorobie |
| ZFRzinc finger RNA binding protein | Często (30–79%) | W 1 chorobie |
| ZFYVE26zinc finger FYVE-type containing 26 | Często (30–79%) | W 2 chorobach |
| ADPRSADP-ribosylserine hydrolase | Czasami (5–29%) | W 1 chorobie |
| ANO10anoctamin 10 | Czasami (5–29%) | W 1 chorobie |
| ARSAarylsulfatase A | Czasami (5–29%) | W 4 chorobach |
| ARXaristaless related homeobox | Czasami (5–29%) | W 1 chorobie |
| BICD2BICD cargo adaptor 2 | Czasami (5–29%) | W 1 chorobie |
| COL4A1collagen type IV alpha 1 chain | Czasami (5–29%) | W 1 chorobie |
| COX18cytochrome c oxidase assembly factor COX18 | Czasami (5–29%) | W 1 chorobie |
| DDCdopa decarboxylase | Czasami (5–29%) | W 2 chorobach |
| DKK1dickkopf Wnt signaling pathway inhibitor 1 | Czasami (5–29%) | W 1 chorobie |
| DNMT1DNA methyltransferase 1 | Czasami (5–29%) | W 1 chorobie |
| EEF2eukaryotic translation elongation factor 2 | Czasami (5–29%) | W 1 chorobie |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Czasami (5–29%) | W 1 chorobie |
| FGF13fibroblast growth factor 13 | Czasami (5–29%) | W 1 chorobie |
| GANgigaxonin | Czasami (5–29%) | W 1 chorobie |
| GJB1gap junction protein beta 1 | Czasami (5–29%) | W 2 chorobach |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Czasami (5–29%) | W 1 chorobie |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Czasami (5–29%) | W 1 chorobie |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Czasami (5–29%) | W 1 chorobie |
| HTThuntingtin | Czasami (5–29%) | W 1 chorobie |
| IBA57iron-sulfur cluster assembly factor IBA57 | Czasami (5–29%) | W 2 chorobach |
| IRF2BPLinterferon regulatory factor 2 binding protein like | Czasami (5–29%) | W 1 chorobie |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Czasami (5–29%) | W 1 chorobie |
| KLC2kinesin light chain 2 | Czasami (5–29%) | W 1 chorobie |
| KYkyphoscoliosis peptidase | Czasami (5–29%) | W 1 chorobie |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Czasami (5–29%) | W 1 chorobie |
| MFN2mitofusin 2 | Czasami (5–29%) | W 2 chorobach |
| MPZmyelin protein zero | Czasami (5–29%) | W 1 chorobie |
| MTTPmicrosomal triglyceride transfer protein | Czasami (5–29%) | W 1 chorobie |
| NFU1NFU1 iron-sulfur cluster scaffold | Czasami (5–29%) | W 1 chorobie |
| PANK2pantothenate kinase 2 | Czasami (5–29%) | W 1 chorobie |
| PEX16peroxisomal biogenesis factor 16 | Czasami (5–29%) | W 1 chorobie |
| PIK3R5phosphoinositide-3-kinase regulatory subunit 5 | Czasami (5–29%) | W 1 chorobie |
| PMP22peripheral myelin protein 22 | Czasami (5–29%) | W 1 chorobie |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Czasami (5–29%) | W 1 chorobie |
| PSAPprosaposin | Czasami (5–29%) | W 5 chorobach |
| RAB3ARAB3A, member RAS oncogene family | Czasami (5–29%) | W 1 chorobie |
| RARS1arginyl-tRNA synthetase 1 | Czasami (5–29%) | W 1 chorobie |
| RNASEH1ribonuclease H1 | Czasami (5–29%) | W 1 chorobie |
| SAMD9Lsterile alpha motif domain containing 9 like | Czasami (5–29%) | W 2 chorobach |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Czasami (5–29%) | W 1 chorobie |
| SLC16A2solute carrier family 16 member 2 | Czasami (5–29%) | W 2 chorobach |
| SLC25A46solute carrier family 25 member 46 | Czasami (5–29%) | W 1 chorobie |
| SLC2A3solute carrier family 2 member 3 | Czasami (5–29%) | W 1 chorobie |
| SLC9A7solute carrier family 9 member A7 | Czasami (5–29%) | W 1 chorobie |
| SNX14sorting nexin 14 | Czasami (5–29%) | W 2 chorobach |
| TBC1D20TBC1 domain family member 20 | Czasami (5–29%) | W 1 chorobie |
| TMEM63Atransmembrane protein 63A | Czasami (5–29%) | W 1 chorobie |
| TSEN15tRNA splicing endonuclease subunit 15 | Czasami (5–29%) | W 2 chorobach |
| TSEN34tRNA splicing endonuclease subunit 34 | Czasami (5–29%) | W 1 chorobie |
| TSEN54tRNA splicing endonuclease subunit 54 | Czasami (5–29%) | W 1 chorobie |
| TTC19tetratricopeptide repeat domain 19 | Czasami (5–29%) | W 1 chorobie |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Czasami (5–29%) | W 1 chorobie |
| UGDHUDP-glucose 6-dehydrogenase | Czasami (5–29%) | W 1 chorobie |
| VRK1VRK serine/threonine kinase 1 | Czasami (5–29%) | W 1 chorobie |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Rzadko (1–4%) | W 1 chorobie |
| FTLferritin light chain | Rzadko (1–4%) | W 2 chorobach |
| AAASaladin WD repeat nucleoporin | Nie odnotowano | W 1 chorobie |
| ADGRG1adhesion G protein-coupled receptor G1 | Nie odnotowano | W 1 chorobie |
| APOEapolipoprotein E | Nie odnotowano | W 1 chorobie |
| ATP2B3ATPase plasma membrane Ca2+ transporting 3 | Nie odnotowano | W 1 chorobie |
| ATXN1ataxin 1 | Nie odnotowano | W 1 chorobie |
| BRAT1BRCA1 associated ATM activator 1 | Nie odnotowano | W 1 chorobie |
| CNTNAP1contactin associated protein 1 | Nie odnotowano | W 1 chorobie |
| COQ2coenzyme Q2, polyprenyltransferase | Nie odnotowano | W 1 chorobie |
| COXFA4cytochrome c oxidase associated subunit FA4 | Nie odnotowano | W 1 chorobie |
| CTDP1CTD phosphatase 1 | Nie odnotowano | W 1 chorobie |
| CTSFcathepsin F | Nie odnotowano | W 1 chorobie |
| DDHD2DDHD domain containing 2 | Nie odnotowano | W 1 chorobie |
| DEGS1delta 4-desaturase, sphingolipid 1 | Nie odnotowano | W 1 chorobie |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Nie odnotowano | W 1 chorobie |
| HTRA1HtrA serine peptidase 1 | Nie odnotowano | W 1 chorobie |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Nie odnotowano | W 1 chorobie |
| KDM5Clysine demethylase 5C | Nie odnotowano | W 1 chorobie |
| MAN2B1mannosidase alpha class 2B member 1 | Nie odnotowano | W 1 chorobie |
| MCOLN1mucolipin TRP cation channel 1 | Nie odnotowano | W 1 chorobie |
| MECP2methyl-CpG binding protein 2 | Nie odnotowano | W 1 chorobie |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Nie odnotowano | W 1 chorobie |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Nie odnotowano | W 1 chorobie |
| NEFLneurofilament light chain | Nie odnotowano | W 1 chorobie |
| NFASCneurofascin | Nie odnotowano | W 1 chorobie |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Nie odnotowano | W 1 chorobie |
| OPA1OPA1 mitochondrial dynamin like GTPase | Nie odnotowano | W 1 chorobie |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Nie odnotowano | W 1 chorobie |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Nie odnotowano | W 1 chorobie |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Nie odnotowano | W 1 chorobie |
| PLA2G6phospholipase A2 group VI | Nie odnotowano | W 1 chorobie |
| PRICKLE1prickle planar cell polarity protein 1 | Nie odnotowano | W 1 chorobie |
| PRSS12serine protease 12 | Nie odnotowano | W 1 chorobie |
| PSEN1presenilin 1 | Nie odnotowano | W 1 chorobie |
| PYCR2pyrroline-5-carboxylate reductase 2 | Nie odnotowano | W 1 chorobie |
| TYROBPtransmembrane immune signaling adaptor TYROBP | Nie odnotowano | W 1 chorobie |
| VPS13Dvacuolar protein sorting 13 homolog D | Nie odnotowano | W 1 chorobie |
| ZFHX3zinc finger homeobox 3 | Nie odnotowano | W 1 chorobie |
Jak często występuje wśród osób z jedną z chorób związanych z tym genem, najczęściej spośród wszystkich, według danych Human Phenotype Ontology. Te strony opisują cechy i badania, na których się opierają; nie są diagnozą, a w sprawie objawów należy zwrócić się do lekarza lub doradcy genetycznego.
Cechy nadrzędne
Skąd pochodzą te dane
- Human Phenotype Ontology, wydanie 2026-09-01: cecha, jej nazwy, definicja oraz geny z nią powiązane. Więcej informacji znajdą Państwo na stronie hpo.jax.org.
- Wydanie danych 2026.10.16-c6eea6bf.
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