Požymis
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.
Santrauka
- Taip pat vadinama
- Extensor plantar reflexes, Extensor plantar response, Extensor plantar responses, Positive Babinski sign
- Kūno sistema
- Abnormality of the nervous system
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
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Įsigyti savo Genome Test313 genų susiję su Babinski sign
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Babinski sign. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| ABCB7ATP binding cassette subfamily B member 7 | Visada | 1 ligoje |
| AHDC1AT-hook DNA binding motif containing 1 | Visada | 1 ligoje |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Visada | 3 ligose |
| AMPD2adenosine monophosphate deaminase 2 | Visada | 1 ligoje |
| AP4M1adaptor related protein complex 4 subunit mu 1 | Visada | 2 ligose |
| ATG5autophagy related 5 | Visada | 1 ligoje |
| ATP7AATPase copper transporting alpha | Visada | 1 ligoje |
| BORCS8BLOC-1 related complex subunit 8 | Visada | 1 ligoje |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Visada | 3 ligose |
| CCT5chaperonin containing TCP1 subunit 5 | Visada | 2 ligose |
| CHP1calcineurin like EF-hand protein 1 | Visada | 1 ligoje |
| CLDN11claudin 11 | Visada | 1 ligoje |
| CPT1Ccarnitine palmitoyltransferase 1C | Visada | 2 ligose |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Visada | 2 ligose |
| CYP2U1cytochrome P450 family 2 subfamily U member 1 | Visada | 2 ligose |
| DARS1aspartyl-tRNA synthetase 1 | Visada | 1 ligoje |
| DSTYKdual serine/threonine and tyrosine protein kinase | Visada | 1 ligoje |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Visada | 1 ligoje |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Visada | 1 ligoje |
| ERLIN2ER lipid raft associated 2 | Visada | 3 ligose |
| FBXL4F-box and leucine rich repeat protein 4 | Visada | 1 ligoje |
| GBA2glucosylceramidase beta 2 | Visada | 3 ligose |
| GFAPglial fibrillary acidic protein | Visada | 2 ligose |
| GJC2gap junction protein gamma 2 | Visada | 2 ligose |
| HMBShydroxymethylbilane synthase | Visada | 1 ligoje |
| HSPD1heat shock protein family D (Hsp60) member 1 | Visada | 3 ligose |
| HYCC1hyccin PI4KA lipid kinase complex subunit 1 | Visada | 1 ligoje |
| IREB2iron responsive element binding protein 2 | Visada | 1 ligoje |
| KCNA4potassium voltage-gated channel subfamily A member 4 | Visada | 1 ligoje |
| KIF1Akinesin family member 1A | Visada | 4 ligose |
| KIF5Akinesin family member 5A | Visada | 2 ligose |
| KLC4kinesin light chain 4 | Visada | 1 ligoje |
| KPNA3karyopherin subunit alpha 3 | Visada | 2 ligose |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Visada | 1 ligoje |
| LYRM7LYR motif containing 7 | Visada | 1 ligoje |
| MAGmyelin associated glycoprotein | Visada | 2 ligose |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Visada | 1 ligoje |
| NEFHneurofilament heavy chain | Visada | 2 ligose |
| NOTCH3notch receptor 3 | Visada | 1 ligoje |
| NT5C25'-nucleotidase, cytosolic II | Visada | 2 ligose |
Rodyti dar 273 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| PCYT2phosphate cytidylyltransferase 2, ethanolamine | Visada | 1 ligoje |
| PET117PET117 cytochrome c oxidase chaperone | Visada | 1 ligoje |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Visada | 2 ligose |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Visada | 2 ligose |
| POLGDNA polymerase gamma, catalytic subunit | Visada | 2 ligose |
| POLR1ARNA polymerase I subunit A | Visada | 1 ligoje |
| REEP1receptor accessory protein 1 | Visada | 1 ligoje |
| REEP2receptor accessory protein 2 | Visada | 2 ligose |
| RFC4replication factor C subunit 4 | Visada | 1 ligoje |
| RNU2-2RNA, U2 small nuclear 2 | Visada | 1 ligoje |
| RTN2reticulon 2 | Visada | 3 ligose |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Visada | 1 ligoje |
| SELENOIselenoprotein I | Visada | 2 ligose |
| SLC1A4solute carrier family 1 member 4 | Visada | 1 ligoje |
| SOD1superoxide dismutase 1 | Visada | 2 ligose |
| SPARTspartin | Visada | 2 ligose |
| SPG21SPG21 abhydrolase domain containing, maspardin | Visada | 1 ligoje |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Visada | 2 ligose |
| TANGO2transport and golgi organization 2 homolog | Visada | 2 ligose |
| TFGtrafficking from ER to golgi regulator | Visada | 2 ligose |
| TMEM63Ctransmembrane protein 63C | Visada | 1 ligoje |
| TOR1Atorsin family 1 member A | Visada | 1 ligoje |
| TSEN2tRNA splicing endonuclease subunit 2 | Visada | 2 ligose |
| VCPvalosin containing protein | Visada | 4 ligose |
| WASHC5WASH complex subunit 5 | Visada | 2 ligose |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Labai dažnai (80–99%) | 5 ligose |
| AP4E1adaptor related protein complex 4 subunit epsilon 1 | Labai dažnai (80–99%) | 2 ligose |
| ATL1atlastin GTPase 1 | Labai dažnai (80–99%) | 2 ligose |
| ATP13A2ATPase cation transporting 13A2 | Labai dažnai (80–99%) | 5 ligose |
| B4GALNT1beta-1,4-N-acetyl-galactosaminyltransferase 1 | Labai dažnai (80–99%) | 2 ligose |
| CAPN1calpain 1 | Labai dažnai (80–99%) | 2 ligose |
| CYP7B1cytochrome P450 family 7 subfamily B member 1 | Labai dažnai (80–99%) | 2 ligose |
| DDHD1DDHD domain containing 1 | Labai dažnai (80–99%) | 2 ligose |
| ERLIN1ER lipid raft associated 1 | Labai dažnai (80–99%) | 1 ligoje |
| FA2Hfatty acid 2-hydroxylase | Labai dažnai (80–99%) | 2 ligose |
| FXNfrataxin | Labai dažnai (80–99%) | 3 ligose |
| GTPBP2GTP binding protein 2 | Labai dažnai (80–99%) | 1 ligoje |
| MTPAPmitochondrial poly(A) polymerase | Labai dažnai (80–99%) | 2 ligose |
| NIPA1NIPA magnesium transporter 1 | Labai dažnai (80–99%) | 2 ligose |
| PLP1proteolipid protein 1 | Labai dažnai (80–99%) | 3 ligose |
| RNF170ring finger protein 170 | Labai dažnai (80–99%) | 1 ligoje |
| SLC33A1solute carrier family 33 member 1 | Labai dažnai (80–99%) | 2 ligose |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Labai dažnai (80–99%) | 3 ligose |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Labai dažnai (80–99%) | 3 ligose |
| TTPAalpha tocopherol transfer protein | Labai dažnai (80–99%) | 1 ligoje |
| UBAP1ubiquitin associated protein 1 | Labai dažnai (80–99%) | 2 ligose |
| UCHL1ubiquitin C-terminal hydrolase L1 | Labai dažnai (80–99%) | 1 ligoje |
| AARS1alanyl-tRNA synthetase 1 | Dažnai (30–79%) | 1 ligoje |
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Dažnai (30–79%) | 1 ligoje |
| ABCD1ATP binding cassette subfamily D member 1 | Dažnai (30–79%) | 1 ligoje |
| ABHD12abhydrolase domain containing 12, lysophospholipase | Dažnai (30–79%) | 1 ligoje |
| ABHD16Aabhydrolase domain containing 16A, phospholipase | Dažnai (30–79%) | 1 ligoje |
| ACOX1acyl-CoA oxidase 1 | Dažnai (30–79%) | 1 ligoje |
| ADARadenosine deaminase RNA specific | Dažnai (30–79%) | 1 ligoje |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Dažnai (30–79%) | 2 ligose |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Dažnai (30–79%) | 2 ligose |
| ANGangiogenin | Dažnai (30–79%) | 1 ligoje |
| ANXA11annexin A11 | Dažnai (30–79%) | 2 ligose |
| AP4B1adaptor related protein complex 4 subunit beta 1 | Dažnai (30–79%) | 2 ligose |
| AP4S1adaptor related protein complex 4 subunit sigma 1 | Dažnai (30–79%) | 2 ligose |
| ARHGAP19Rho GTPase activating protein 19 | Dažnai (30–79%) | 1 ligoje |
| ASPAaspartoacylase | Dažnai (30–79%) | 2 ligose |
| ATP6AP2ATPase H+ transporting accessory protein 2 | Dažnai (30–79%) | 4 ligose |
| ATXN10ataxin 10 | Dažnai (30–79%) | 2 ligose |
| ATXN2ataxin 2 | Dažnai (30–79%) | 2 ligose |
| ATXN3ataxin 3 | Dažnai (30–79%) | 4 ligose |
| ATXN7ataxin 7 | Dažnai (30–79%) | 2 ligose |
| C19orf12chromosome 19 open reading frame 12 | Dažnai (30–79%) | 2 ligose |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Dažnai (30–79%) | 1 ligoje |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Dažnai (30–79%) | 2 ligose |
| CAMSAP1calmodulin regulated spectrin associated protein 1 | Dažnai (30–79%) | 1 ligoje |
| CAV1caveolin 1 | Dažnai (30–79%) | 1 ligoje |
| CCNFcyclin F | Dažnai (30–79%) | 1 ligoje |
| CFAP410cilia and flagella associated protein 410 | Dažnai (30–79%) | 1 ligoje |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Dažnai (30–79%) | 3 ligose |
| CHMP2Bcharged multivesicular body protein 2B | Dažnai (30–79%) | 2 ligose |
| COQ4coenzyme Q4 | Dažnai (30–79%) | 1 ligoje |
| COQ7coenzyme Q7, hydroxylase | Dažnai (30–79%) | 1 ligoje |
| COX20cytochrome c oxidase assembly factor COX20 | Dažnai (30–79%) | 1 ligoje |
| CWF19L1CWF19 like cell cycle control factor 1 | Dažnai (30–79%) | 1 ligoje |
| DAOD-amino acid oxidase | Dažnai (30–79%) | 1 ligoje |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Dažnai (30–79%) | 2 ligose |
| DCTN1dynactin subunit 1 | Dažnai (30–79%) | 1 ligoje |
| DLATdihydrolipoamide S-acetyltransferase | Dažnai (30–79%) | 1 ligoje |
| DNAJC3DnaJ heat shock protein family (Hsp40) member C3 | Dažnai (30–79%) | 2 ligose |
| DPM3dolichyl-phosphate mannosyltransferase subunit 3, regulatory | Dažnai (30–79%) | 1 ligoje |
| DTYMKdeoxythymidylate kinase | Dažnai (30–79%) | 1 ligoje |
| EARS2glutamyl-tRNA synthetase 2, mitochondrial | Dažnai (30–79%) | 1 ligoje |
| ELOVL1ELOVL fatty acid elongase 1 | Dažnai (30–79%) | 1 ligoje |
| EPG5ectopic P-granules 5 autophagy tethering factor | Dažnai (30–79%) | 1 ligoje |
| ERBB4erb-b2 receptor tyrosine kinase 4 | Dažnai (30–79%) | 1 ligoje |
| ETHE1ETHE1 persulfide dioxygenase | Dažnai (30–79%) | 1 ligoje |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Dažnai (30–79%) | 2 ligose |
| FBXO7F-box protein 7 | Dažnai (30–79%) | 1 ligoje |
| FIG4FIG4 phosphoinositide 5-phosphatase | Dažnai (30–79%) | 1 ligoje |
| FUSFUS RNA binding protein | Dažnai (30–79%) | 2 ligose |
| GALCgalactosylceramidase | Dažnai (30–79%) | 1 ligoje |
| GCH1GTP cyclohydrolase 1 | Dažnai (30–79%) | 2 ligose |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Dažnai (30–79%) | 2 ligose |
| GLE1GLE1 RNA export mediator | Dažnai (30–79%) | 1 ligoje |
| GLRX5glutaredoxin 5 | Dažnai (30–79%) | 2 ligose |
| GLT8D1glycosyltransferase 8 domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| GPT2glutamic--pyruvic transaminase 2 | Dažnai (30–79%) | 1 ligoje |
| GRID2glutamate ionotropic receptor delta type subunit 2 | Dažnai (30–79%) | 1 ligoje |
| GTPBP1GTP binding protein 1 | Dažnai (30–79%) | 1 ligoje |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Dažnai (30–79%) | 1 ligoje |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | Dažnai (30–79%) | 1 ligoje |
| IMPDH2inosine monophosphate dehydrogenase 2 | Dažnai (30–79%) | 1 ligoje |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Dažnai (30–79%) | 1 ligoje |
| JAM2junctional adhesion molecule 2 | Dažnai (30–79%) | 1 ligoje |
| KIF1Ckinesin family member 1C | Dažnai (30–79%) | 2 ligose |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Dažnai (30–79%) | 1 ligoje |
| LMNB1lamin B1 | Dažnai (30–79%) | 1 ligoje |
| LRP12LDL receptor related protein 12 | Dažnai (30–79%) | 2 ligose |
| MATR3matrin 3 | Dažnai (30–79%) | 1 ligoje |
| MDH2malate dehydrogenase 2 | Dažnai (30–79%) | 1 ligoje |
| MORC2MORC family CW-type zinc finger 2 | Dažnai (30–79%) | 3 ligose |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Dažnai (30–79%) | 3 ligose |
| MT-TEmitochondrially encoded tRNA-Glu (GAA/G) | Dažnai (30–79%) | 1 ligoje |
| MTRFRmitochondrial translation release factor in rescue | Dažnai (30–79%) | 2 ligose |
| NDE1nudE neurodevelopment protein 1 | Dažnai (30–79%) | 1 ligoje |
| NEK1NIMA related kinase 1 | Dažnai (30–79%) | 1 ligoje |
| NOP56NOP56 ribonucleoprotein | Dažnai (30–79%) | 2 ligose |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Dažnai (30–79%) | 1 ligoje |
| NUP54nucleoporin 54 | Dažnai (30–79%) | 1 ligoje |
| NUP62nucleoporin 62 | Dažnai (30–79%) | 1 ligoje |
| OPTNoptineurin | Dažnai (30–79%) | 1 ligoje |
| PDYNprodynorphin | Dažnai (30–79%) | 2 ligose |
| PFN1profilin 1 | Dažnai (30–79%) | 1 ligoje |
| PGBD5piggyBac transposable element derived 5 | Dažnai (30–79%) | 1 ligoje |
| PI4KAphosphatidylinositol 4-kinase alpha | Dažnai (30–79%) | 1 ligoje |
| PLAAphospholipase A2 activating protein | Dažnai (30–79%) | 1 ligoje |
| PNPLA6patatin like domain 6, lysophospholipase | Dažnai (30–79%) | 3 ligose |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Dažnai (30–79%) | 2 ligose |
| POLR3ARNA polymerase III subunit A | Dažnai (30–79%) | 2 ligose |
| POLR3BRNA polymerase III subunit B | Dažnai (30–79%) | 2 ligose |
| PRKNparkin RBR E3 ubiquitin protein ligase | Dažnai (30–79%) | 1 ligoje |
| PRNPprion protein (Kanno blood group) | Dažnai (30–79%) | 1 ligoje |
| PRPHperipherin | Dažnai (30–79%) | 1 ligoje |
| PTRHD1peptidyl-tRNA hydrolase domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| RFC1replication factor C subunit 1 | Dažnai (30–79%) | 1 ligoje |
| RUSC2RUN and SH3 domain containing 2 | Dažnai (30–79%) | 1 ligoje |
| SACSsacsin molecular chaperone | Dažnai (30–79%) | 2 ligose |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Dažnai (30–79%) | 3 ligose |
| SDHAF1succinate dehydrogenase complex assembly factor 1 | Dažnai (30–79%) | 1 ligoje |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Dažnai (30–79%) | 1 ligoje |
| SDHDsuccinate dehydrogenase complex subunit D | Dažnai (30–79%) | 1 ligoje |
| SETXsenataxin | Dažnai (30–79%) | 3 ligose |
| SHMT2serine hydroxymethyltransferase 2 | Dažnai (30–79%) | 1 ligoje |
| SIGMAR1sigma receptor chaperone 1 | Dažnai (30–79%) | 1 ligoje |
| SLC19A3solute carrier family 19 member 3 | Dažnai (30–79%) | 1 ligoje |
| SLC1A2solute carrier family 1 member 2 | Dažnai (30–79%) | 1 ligoje |
| SLC39A14solute carrier family 39 member 14 | Dažnai (30–79%) | 2 ligose |
| SLC44A1solute carrier family 44 member 1 | Dažnai (30–79%) | 1 ligoje |
| SNCAsynuclein alpha | Dažnai (30–79%) | 1 ligoje |
| SPASTspastin | Dažnai (30–79%) | 2 ligose |
| SQSTM1sequestosome 1 | Dažnai (30–79%) | 2 ligose |
| STUB1STIP1 homology and U-box containing protein 1 | Dažnai (30–79%) | 2 ligose |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Dažnai (30–79%) | 1 ligoje |
| TAF15TATA-box binding protein associated factor 15 | Dažnai (30–79%) | 1 ligoje |
| TAF2TATA-box binding protein associated factor 2 | Dažnai (30–79%) | 2 ligose |
| TARDBPTAR DNA binding protein | Dažnai (30–79%) | 3 ligose |
| TBK1TANK binding kinase 1 | Dažnai (30–79%) | 2 ligose |
| TGM6transglutaminase 6 | Dažnai (30–79%) | 2 ligose |
| THtyrosine hydroxylase | Dažnai (30–79%) | 1 ligoje |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Dažnai (30–79%) | 1 ligoje |
| TPP1tripeptidyl peptidase 1 | Dažnai (30–79%) | 2 ligose |
| TREM2triggering receptor expressed on myeloid cells 2 | Dažnai (30–79%) | 3 ligose |
| TRMT5tRNA methyltransferase 5 | Dažnai (30–79%) | 1 ligoje |
| TSPOAP1TSPO associated protein 1 | Dažnai (30–79%) | 2 ligose |
| TUBA4Atubulin alpha 4a | Dažnai (30–79%) | 1 ligoje |
| TWNKtwinkle mtDNA helicase | Dažnai (30–79%) | 2 ligose |
| UBQLN2ubiquilin 2 | Dažnai (30–79%) | 1 ligoje |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Dažnai (30–79%) | 1 ligoje |
| UNC13Aunc-13 homolog A | Dažnai (30–79%) | 1 ligoje |
| VAMP1vesicle associated membrane protein 1 | Dažnai (30–79%) | 1 ligoje |
| VAPBVAMP associated protein B and C | Dažnai (30–79%) | 1 ligoje |
| WWOXWW domain containing oxidoreductase | Dažnai (30–79%) | 1 ligoje |
| ZFRzinc finger RNA binding protein | Dažnai (30–79%) | 1 ligoje |
| ZFYVE26zinc finger FYVE-type containing 26 | Dažnai (30–79%) | 2 ligose |
| ADPRSADP-ribosylserine hydrolase | Kartais (5–29%) | 1 ligoje |
| ANO10anoctamin 10 | Kartais (5–29%) | 1 ligoje |
| ARSAarylsulfatase A | Kartais (5–29%) | 4 ligose |
| ARXaristaless related homeobox | Kartais (5–29%) | 1 ligoje |
| BICD2BICD cargo adaptor 2 | Kartais (5–29%) | 1 ligoje |
| COL4A1collagen type IV alpha 1 chain | Kartais (5–29%) | 1 ligoje |
| COX18cytochrome c oxidase assembly factor COX18 | Kartais (5–29%) | 1 ligoje |
| DDCdopa decarboxylase | Kartais (5–29%) | 2 ligose |
| DKK1dickkopf Wnt signaling pathway inhibitor 1 | Kartais (5–29%) | 1 ligoje |
| DNMT1DNA methyltransferase 1 | Kartais (5–29%) | 1 ligoje |
| EEF2eukaryotic translation elongation factor 2 | Kartais (5–29%) | 1 ligoje |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Kartais (5–29%) | 1 ligoje |
| FGF13fibroblast growth factor 13 | Kartais (5–29%) | 1 ligoje |
| GANgigaxonin | Kartais (5–29%) | 1 ligoje |
| GJB1gap junction protein beta 1 | Kartais (5–29%) | 2 ligose |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Kartais (5–29%) | 1 ligoje |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Kartais (5–29%) | 1 ligoje |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Kartais (5–29%) | 1 ligoje |
| HTThuntingtin | Kartais (5–29%) | 1 ligoje |
| IBA57iron-sulfur cluster assembly factor IBA57 | Kartais (5–29%) | 2 ligose |
| IRF2BPLinterferon regulatory factor 2 binding protein like | Kartais (5–29%) | 1 ligoje |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Kartais (5–29%) | 1 ligoje |
| KLC2kinesin light chain 2 | Kartais (5–29%) | 1 ligoje |
| KYkyphoscoliosis peptidase | Kartais (5–29%) | 1 ligoje |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Kartais (5–29%) | 1 ligoje |
| MFN2mitofusin 2 | Kartais (5–29%) | 2 ligose |
| MPZmyelin protein zero | Kartais (5–29%) | 1 ligoje |
| MTTPmicrosomal triglyceride transfer protein | Kartais (5–29%) | 1 ligoje |
| NFU1NFU1 iron-sulfur cluster scaffold | Kartais (5–29%) | 1 ligoje |
| PANK2pantothenate kinase 2 | Kartais (5–29%) | 1 ligoje |
| PEX16peroxisomal biogenesis factor 16 | Kartais (5–29%) | 1 ligoje |
| PIK3R5phosphoinositide-3-kinase regulatory subunit 5 | Kartais (5–29%) | 1 ligoje |
| PMP22peripheral myelin protein 22 | Kartais (5–29%) | 1 ligoje |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Kartais (5–29%) | 1 ligoje |
| PSAPprosaposin | Kartais (5–29%) | 5 ligose |
| RAB3ARAB3A, member RAS oncogene family | Kartais (5–29%) | 1 ligoje |
| RARS1arginyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| RNASEH1ribonuclease H1 | Kartais (5–29%) | 1 ligoje |
| SAMD9Lsterile alpha motif domain containing 9 like | Kartais (5–29%) | 2 ligose |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Kartais (5–29%) | 1 ligoje |
| SLC16A2solute carrier family 16 member 2 | Kartais (5–29%) | 2 ligose |
| SLC25A46solute carrier family 25 member 46 | Kartais (5–29%) | 1 ligoje |
| SLC2A3solute carrier family 2 member 3 | Kartais (5–29%) | 1 ligoje |
| SLC9A7solute carrier family 9 member A7 | Kartais (5–29%) | 1 ligoje |
| SNX14sorting nexin 14 | Kartais (5–29%) | 2 ligose |
| TBC1D20TBC1 domain family member 20 | Kartais (5–29%) | 1 ligoje |
| TMEM63Atransmembrane protein 63A | Kartais (5–29%) | 1 ligoje |
| TSEN15tRNA splicing endonuclease subunit 15 | Kartais (5–29%) | 2 ligose |
| TSEN34tRNA splicing endonuclease subunit 34 | Kartais (5–29%) | 1 ligoje |
| TSEN54tRNA splicing endonuclease subunit 54 | Kartais (5–29%) | 1 ligoje |
| TTC19tetratricopeptide repeat domain 19 | Kartais (5–29%) | 1 ligoje |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Kartais (5–29%) | 1 ligoje |
| UGDHUDP-glucose 6-dehydrogenase | Kartais (5–29%) | 1 ligoje |
| VRK1VRK serine/threonine kinase 1 | Kartais (5–29%) | 1 ligoje |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Retai (1–4 %) | 1 ligoje |
| FTLferritin light chain | Retai (1–4 %) | 2 ligose |
| AAASaladin WD repeat nucleoporin | Neužfiksuota | 1 ligoje |
| ADGRG1adhesion G protein-coupled receptor G1 | Neužfiksuota | 1 ligoje |
| APOEapolipoprotein E | Neužfiksuota | 1 ligoje |
| ATP2B3ATPase plasma membrane Ca2+ transporting 3 | Neužfiksuota | 1 ligoje |
| ATXN1ataxin 1 | Neužfiksuota | 1 ligoje |
| BRAT1BRCA1 associated ATM activator 1 | Neužfiksuota | 1 ligoje |
| CNTNAP1contactin associated protein 1 | Neužfiksuota | 1 ligoje |
| COQ2coenzyme Q2, polyprenyltransferase | Neužfiksuota | 1 ligoje |
| COXFA4cytochrome c oxidase associated subunit FA4 | Neužfiksuota | 1 ligoje |
| CTDP1CTD phosphatase 1 | Neužfiksuota | 1 ligoje |
| CTSFcathepsin F | Neužfiksuota | 1 ligoje |
| DDHD2DDHD domain containing 2 | Neužfiksuota | 1 ligoje |
| DEGS1delta 4-desaturase, sphingolipid 1 | Neužfiksuota | 1 ligoje |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Neužfiksuota | 1 ligoje |
| HTRA1HtrA serine peptidase 1 | Neužfiksuota | 1 ligoje |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Neužfiksuota | 1 ligoje |
| KDM5Clysine demethylase 5C | Neužfiksuota | 1 ligoje |
| MAN2B1mannosidase alpha class 2B member 1 | Neužfiksuota | 1 ligoje |
| MCOLN1mucolipin TRP cation channel 1 | Neužfiksuota | 1 ligoje |
| MECP2methyl-CpG binding protein 2 | Neužfiksuota | 1 ligoje |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Neužfiksuota | 1 ligoje |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Neužfiksuota | 1 ligoje |
| NEFLneurofilament light chain | Neužfiksuota | 1 ligoje |
| NFASCneurofascin | Neužfiksuota | 1 ligoje |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Neužfiksuota | 1 ligoje |
| OPA1OPA1 mitochondrial dynamin like GTPase | Neužfiksuota | 1 ligoje |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Neužfiksuota | 1 ligoje |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Neužfiksuota | 1 ligoje |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Neužfiksuota | 1 ligoje |
| PLA2G6phospholipase A2 group VI | Neužfiksuota | 1 ligoje |
| PRICKLE1prickle planar cell polarity protein 1 | Neužfiksuota | 1 ligoje |
| PRSS12serine protease 12 | Neužfiksuota | 1 ligoje |
| PSEN1presenilin 1 | Neužfiksuota | 1 ligoje |
| PYCR2pyrroline-5-carboxylate reductase 2 | Neužfiksuota | 1 ligoje |
| TYROBPtransmembrane immune signaling adaptor TYROBP | Neužfiksuota | 1 ligoje |
| VPS13Dvacuolar protein sorting 13 homolog D | Neužfiksuota | 1 ligoje |
| ZFHX3zinc finger homeobox 3 | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
Platesni požymiai
Iš kur tai žinoma
- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.16-c6eea6bf.
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