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Požymis
Spasticity and rigidity of muscles
Klinikinis pavadinimas: Hypertonia
A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.
Santrauka
- Taip pat vadinama
- Hypertonicity, Increased muscle tone
- Kūno sistema
- Abnormality of the musculoskeletal system
Spasticity and rigidity of musclesHP:0001276
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Read the genes linked to Spasticity and rigidity of muscles, and the rest of your genome, with one test.
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Įsigyti savo Genome Test391 genas susijęs su Spasticity and rigidity of muscles
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Spasticity and rigidity of muscles. 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 |
|---|---|---|
| ADGRG1adhesion G protein-coupled receptor G1 | Visada | 1 ligoje |
| AMPD2adenosine monophosphate deaminase 2 | Visada | 3 ligose |
| AP4B1adaptor related protein complex 4 subunit beta 1 | Visada | 1 ligoje |
| AP4S1adaptor related protein complex 4 subunit sigma 1 | Visada | 1 ligoje |
| ARHGEF9Cdc42 guanine nucleotide exchange factor 9 | Visada | 2 ligose |
| ARL13BARF like GTPase 13B | Visada | 1 ligoje |
| ARXaristaless related homeobox | Visada | 2 ligose |
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Visada | 1 ligoje |
| ATAD1ATPase family AAA domain containing 1 | Visada | 2 ligose |
| ATP13A2ATPase cation transporting 13A2 | Visada | 3 ligose |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Visada | 1 ligoje |
| CDK19cyclin dependent kinase 19 | Visada | 1 ligoje |
| CHKAcholine kinase alpha | Visada | 1 ligoje |
| COQ4coenzyme Q4 | Visada | 1 ligoje |
| COQ9coenzyme Q9 | Visada | 1 ligoje |
| COX18cytochrome c oxidase assembly factor COX18 | Visada | 1 ligoje |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Visada | 1 ligoje |
| CTCFCCCTC-binding factor | Visada | 1 ligoje |
| CYB5R3cytochrome b5 reductase 3 | Visada | 2 ligose |
| DNM1Ldynamin 1L | Visada | 1 ligoje |
| EIF4A2eukaryotic translation initiation factor 4A2 | Visada | 1 ligoje |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Visada | 2 ligose |
| FDXRferredoxin reductase | Visada | 2 ligose |
| FEM1Bfem-1 homolog B | Visada | 1 ligoje |
| FTOFTO alpha-ketoglutarate dependent dioxygenase | Visada | 1 ligoje |
| GCSHglycine cleavage system protein H | Visada | 1 ligoje |
| GFM1G elongation factor mitochondrial 1 | Visada | 1 ligoje |
| GLI2GLI family zinc finger 2 | Visada | 1 ligoje |
| GLRBglycine receptor beta | Visada | 2 ligose |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Visada | 1 ligoje |
| GPHNgephyrin | Visada | 3 ligose |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Visada | 1 ligoje |
| GTF2H5general transcription factor IIH subunit 5 | Visada | 2 ligose |
| IREB2iron responsive element binding protein 2 | Visada | 1 ligoje |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Visada | 1 ligoje |
| KDM2Blysine demethylase 2B | Visada | 1 ligoje |
| KDM6Blysine demethylase 6B | Visada | 1 ligoje |
| KIF5Ckinesin family member 5C | Visada | 1 ligoje |
| MBOAT7membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7 | Visada | 1 ligoje |
| MED17mediator complex subunit 17 | Visada | 1 ligoje |
Rodyti dar 351 geną
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| MOCS3molybdenum cofactor synthesis 3 | Visada | 1 ligoje |
| NFASCneurofascin | Visada | 1 ligoje |
| NIPBLNIPBL cohesin loading factor | Visada | 2 ligose |
| OPA1OPA1 mitochondrial dynamin like GTPase | Visada | 1 ligoje |
| PEX11Bperoxisomal biogenesis factor 11 beta | Visada | 1 ligoje |
| PI4KAphosphatidylinositol 4-kinase alpha | Visada | 1 ligoje |
| PLAAphospholipase A2 activating protein | Visada | 1 ligoje |
| POLR1ARNA polymerase I subunit A | Visada | 1 ligoje |
| PSAPprosaposin | Visada | 1 ligoje |
| PTPN23protein tyrosine phosphatase non-receptor type 23 | Visada | 1 ligoje |
| RNF13ring finger protein 13 | Visada | 2 ligose |
| RNU2-2RNA, U2 small nuclear 2 | Visada | 1 ligoje |
| SCO2synthesis of cytochrome C oxidase 2 | Visada | 1 ligoje |
| SEC31ASEC31 homolog A, COPII component | Visada | 1 ligoje |
| SGSM3small G protein signaling modulator 3 | Visada | 1 ligoje |
| SLC2A1solute carrier family 2 member 1 | Visada | 3 ligose |
| SLC6A3solute carrier family 6 member 3 | Visada | 2 ligose |
| SMAD4SMAD family member 4 | Visada | 1 ligoje |
| SMC1Astructural maintenance of chromosomes 1A | Visada | 2 ligose |
| SOD1superoxide dismutase 1 | Visada | 1 ligoje |
| SPG21SPG21 abhydrolase domain containing, maspardin | Visada | 1 ligoje |
| SUPT7LSPT7 like, STAGA complex subunit gamma | Visada | 1 ligoje |
| TMX2thioredoxin related transmembrane protein 2 | Visada | 1 ligoje |
| TOR1Atorsin family 1 member A | Visada | 3 ligose |
| TSEN54tRNA splicing endonuclease subunit 54 | Visada | 2 ligose |
| VAC14VAC14 component of PIKFYVE complex | Visada | 1 ligoje |
| VARS2valyl-tRNA synthetase 2, mitochondrial | Visada | 1 ligoje |
| VPS53VPS53 subunit of GARP complex | Visada | 1 ligoje |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Visada | 3 ligose |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Visada | 2 ligose |
| ADARadenosine deaminase RNA specific | Labai dažnai (80–99%) | 2 ligose |
| APPamyloid beta precursor protein | Labai dažnai (80–99%) | 1 ligoje |
| ATP7AATPase copper transporting alpha | Labai dažnai (80–99%) | 2 ligose |
| BRD4bromodomain containing 4 | Labai dažnai (80–99%) | 1 ligoje |
| CLCF1cardiotrophin like cytokine factor 1 | Labai dažnai (80–99%) | 1 ligoje |
| CRLF1cytokine receptor like factor 1 | Labai dažnai (80–99%) | 1 ligoje |
| CRYABcrystallin alpha B | Labai dažnai (80–99%) | 1 ligoje |
| DHCR2424-dehydrocholesterol reductase | Labai dažnai (80–99%) | 1 ligoje |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Labai dažnai (80–99%) | 2 ligose |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Labai dažnai (80–99%) | 2 ligose |
| ERCC5ERCC excision repair 5, endonuclease | Labai dažnai (80–99%) | 1 ligoje |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Labai dažnai (80–99%) | 2 ligose |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Labai dažnai (80–99%) | 2 ligose |
| GLRA1glycine receptor alpha 1 | Labai dažnai (80–99%) | 2 ligose |
| GPT2glutamic--pyruvic transaminase 2 | Labai dažnai (80–99%) | 1 ligoje |
| HDAC8histone deacetylase 8 | Labai dažnai (80–99%) | 1 ligoje |
| HIKESHIheat shock protein nuclear import factor hikeshi | Labai dažnai (80–99%) | 1 ligoje |
| HSPG2heparan sulfate proteoglycan 2 | Labai dažnai (80–99%) | 1 ligoje |
| IFIH1interferon induced with helicase C domain 1 | Labai dažnai (80–99%) | 2 ligose |
| LSM11LSM11, U7 small nuclear RNA associated | Labai dažnai (80–99%) | 1 ligoje |
| MAU2MAU2 sister chromatid cohesion factor | Labai dažnai (80–99%) | 1 ligoje |
| MYO5Amyosin VA | Labai dažnai (80–99%) | 2 ligose |
| NFU1NFU1 iron-sulfur cluster scaffold | Labai dažnai (80–99%) | 2 ligose |
| NSD1nuclear receptor binding SET domain protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| OGDHoxoglutarate dehydrogenase | Labai dažnai (80–99%) | 1 ligoje |
| POLR3ARNA polymerase III subunit A | Labai dažnai (80–99%) | 2 ligose |
| PSEN1presenilin 1 | Labai dažnai (80–99%) | 1 ligoje |
| PSEN2presenilin 2 | Labai dažnai (80–99%) | 1 ligoje |
| RAD21RAD21 cohesin complex component | Labai dažnai (80–99%) | 1 ligoje |
| RBMXRNA binding motif protein X-linked | Labai dažnai (80–99%) | 1 ligoje |
| RNASEH2Aribonuclease H2 subunit A | Labai dažnai (80–99%) | 1 ligoje |
| RNASEH2Bribonuclease H2 subunit B | Labai dažnai (80–99%) | 1 ligoje |
| RNASEH2Cribonuclease H2 subunit C | Labai dažnai (80–99%) | 1 ligoje |
| RNU4ATACRNA, U4atac small nuclear | Labai dažnai (80–99%) | 1 ligoje |
| RNU7-1RNA, U7 small nuclear 1 | Labai dažnai (80–99%) | 2 ligose |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Labai dažnai (80–99%) | 1 ligoje |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Labai dažnai (80–99%) | 3 ligose |
| SHQ1SHQ1, H/ACA ribonucleoprotein assembly factor | Labai dažnai (80–99%) | 1 ligoje |
| SLC18A2solute carrier family 18 member A2 | Labai dažnai (80–99%) | 1 ligoje |
| SLC6A5solute carrier family 6 member 5 | Labai dažnai (80–99%) | 2 ligose |
| SMC3structural maintenance of chromosomes 3 | Labai dažnai (80–99%) | 1 ligoje |
| SORL1sortilin related receptor 1 | Labai dažnai (80–99%) | 1 ligoje |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Labai dažnai (80–99%) | 1 ligoje |
| TOE1target of EGR1, exonuclease | Labai dažnai (80–99%) | 2 ligose |
| TOMM40translocase of outer mitochondrial membrane 40 | Labai dažnai (80–99%) | 1 ligoje |
| TREM2triggering receptor expressed on myeloid cells 2 | Labai dažnai (80–99%) | 1 ligoje |
| TREX1three prime repair exonuclease 1 | Labai dažnai (80–99%) | 1 ligoje |
| VAMP1vesicle associated membrane protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| ZNF526zinc finger protein 526 | Labai dažnai (80–99%) | 1 ligoje |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Dažnai (30–79%) | 1 ligoje |
| AHDC1AT-hook DNA binding motif containing 1 | Dažnai (30–79%) | 1 ligoje |
| ALG11ALG11 alpha-1,2-mannosyltransferase | Dažnai (30–79%) | 1 ligoje |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Dažnai (30–79%) | 2 ligose |
| APC2APC regulator of Wnt signaling pathway 2 | Dažnai (30–79%) | 1 ligoje |
| ATMATM serine/threonine kinase | Dažnai (30–79%) | 1 ligoje |
| AUTS2activator of transcription and developmental regulator AUTS2 | Dažnai (30–79%) | 2 ligose |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Dažnai (30–79%) | 1 ligoje |
| BMPR1Abone morphogenetic protein receptor type 1A | Dažnai (30–79%) | 1 ligoje |
| BRAT1BRCA1 associated ATM activator 1 | Dažnai (30–79%) | 2 ligose |
| BRCA2BRCA2 DNA repair associated | Dažnai (30–79%) | 1 ligoje |
| C12orf57chromosome 12 open reading frame 57 | Dažnai (30–79%) | 1 ligoje |
| CDC40cell division cycle 40 | Dažnai (30–79%) | 1 ligoje |
| CHEK2checkpoint kinase 2 | Dažnai (30–79%) | 1 ligoje |
| CITcitron rho-interacting serine/threonine kinase | Dažnai (30–79%) | 1 ligoje |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Dažnai (30–79%) | 1 ligoje |
| CRPPACDP-L-ribitol pyrophosphorylase A | Dažnai (30–79%) | 1 ligoje |
| DKC1dyskerin pseudouridine synthase 1 | Dažnai (30–79%) | 1 ligoje |
| DLATdihydrolipoamide S-acetyltransferase | Dažnai (30–79%) | 1 ligoje |
| DTYMKdeoxythymidylate kinase | Dažnai (30–79%) | 1 ligoje |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Dažnai (30–79%) | 1 ligoje |
| EPCAMepithelial cell adhesion molecule | Dažnai (30–79%) | 1 ligoje |
| ERLIN1ER lipid raft associated 1 | Dažnai (30–79%) | 1 ligoje |
| EXOC8exocyst complex component 8 | Dažnai (30–79%) | 1 ligoje |
| FGFR1fibroblast growth factor receptor 1 | Dažnai (30–79%) | 1 ligoje |
| FKRPfukutin related protein | Dažnai (30–79%) | 1 ligoje |
| FKTNfukutin | Dažnai (30–79%) | 1 ligoje |
| FRMD4AFERM domain containing 4A | Dažnai (30–79%) | 1 ligoje |
| FUSFUS RNA binding protein | Dažnai (30–79%) | 1 ligoje |
| GAMTguanidinoacetate N-methyltransferase | Dažnai (30–79%) | 1 ligoje |
| GBA1glucosylceramidase beta 1 | Dažnai (30–79%) | 3 ligose |
| GLRX5glutaredoxin 5 | Dažnai (30–79%) | 1 ligoje |
| GMPPBGDP-mannose pyrophosphorylase B | Dažnai (30–79%) | 2 ligose |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Dažnai (30–79%) | 1 ligoje |
| GRIA4glutamate ionotropic receptor AMPA type subunit 4 | Dažnai (30–79%) | 1 ligoje |
| JAM2junctional adhesion molecule 2 | Dažnai (30–79%) | 1 ligoje |
| KCNJ6potassium inwardly rectifying channel subfamily J member 6 | Dažnai (30–79%) | 2 ligose |
| KRASKRas proto-oncogene, GTPase | Dažnai (30–79%) | 3 ligose |
| KYNUkynureninase | Dažnai (30–79%) | 1 ligoje |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Dažnai (30–79%) | 1 ligoje |
| LINGO1leucine rich repeat and Ig domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| MLH1mutL homolog 1 | Dažnai (30–79%) | 1 ligoje |
| MPDU1mannose-P-dolichol utilization defect 1 | Dažnai (30–79%) | 2 ligose |
| MSH2mutS homolog 2 | Dažnai (30–79%) | 1 ligoje |
| MSH6mutS homolog 6 | Dažnai (30–79%) | 1 ligoje |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Dažnai (30–79%) | 2 ligose |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Dažnai (30–79%) | 1 ligoje |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Dažnai (30–79%) | 1 ligoje |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Dažnai (30–79%) | 1 ligoje |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Dažnai (30–79%) | 1 ligoje |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Dažnai (30–79%) | 1 ligoje |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Dažnai (30–79%) | 1 ligoje |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Dažnai (30–79%) | 1 ligoje |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Dažnai (30–79%) | 1 ligoje |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Dažnai (30–79%) | 1 ligoje |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Dažnai (30–79%) | 1 ligoje |
| MTHFSmethenyltetrahydrofolate synthetase | Dažnai (30–79%) | 1 ligoje |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Dažnai (30–79%) | 1 ligoje |
| MUTYHmutY DNA glycosylase | Dažnai (30–79%) | 1 ligoje |
| NAGSN-acetylglutamate synthase | Dažnai (30–79%) | 1 ligoje |
| NARS1asparaginyl-tRNA synthetase 1 | Dažnai (30–79%) | 2 ligose |
| NCAPG2non-SMC condensin II complex subunit G2 | Dažnai (30–79%) | 1 ligoje |
| NDE1nudE neurodevelopment protein 1 | Dažnai (30–79%) | 1 ligoje |
| NDUFA8NADH:ubiquinone oxidoreductase subunit A8 | Dažnai (30–79%) | 1 ligoje |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Dažnai (30–79%) | 1 ligoje |
| NOTCH2NLCnotch 2 N-terminal like C | Dažnai (30–79%) | 1 ligoje |
| NPATnuclear protein, coactivator of histone transcription | Dažnai (30–79%) | 1 ligoje |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Dažnai (30–79%) | 1 ligoje |
| NUP214nucleoporin 214 | Dažnai (30–79%) | 1 ligoje |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Dažnai (30–79%) | 1 ligoje |
| PARNpoly(A)-specific ribonuclease | Dažnai (30–79%) | 1 ligoje |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Dažnai (30–79%) | 1 ligoje |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Dažnai (30–79%) | 1 ligoje |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Dažnai (30–79%) | 1 ligoje |
| PLK4polo like kinase 4 | Dažnai (30–79%) | 1 ligoje |
| PLPBPpyridoxal phosphate binding protein | Dažnai (30–79%) | 1 ligoje |
| PMS1PMS1 homolog 1, mismatch repair system component | Dažnai (30–79%) | 1 ligoje |
| PMS2PMS1 homolog 2, mismatch repair system component | Dažnai (30–79%) | 1 ligoje |
| PNPOpyridoxamine 5'-phosphate oxidase | Dažnai (30–79%) | 2 ligose |
| POLD1DNA polymerase delta 1, catalytic subunit | Dažnai (30–79%) | 1 ligoje |
| POLEDNA polymerase epsilon, catalytic subunit | Dažnai (30–79%) | 1 ligoje |
| POLGDNA polymerase gamma, catalytic subunit | Dažnai (30–79%) | 2 ligose |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Dažnai (30–79%) | 1 ligoje |
| POMT1protein O-mannosyltransferase 1 | Dažnai (30–79%) | 1 ligoje |
| POMT2protein O-mannosyltransferase 2 | Dažnai (30–79%) | 1 ligoje |
| PPFIBP1PPFIB scaffold protein 1 | Dažnai (30–79%) | 1 ligoje |
| PPIL1peptidylprolyl isomerase like 1 | Dažnai (30–79%) | 1 ligoje |
| PRDM13PR/SET domain 13 | Dažnai (30–79%) | 1 ligoje |
| PSAT1phosphoserine aminotransferase 1 | Dažnai (30–79%) | 2 ligose |
| RANBP2RAN binding protein 2 | Dažnai (30–79%) | 2 ligose |
| REEP1receptor accessory protein 1 | Dažnai (30–79%) | 1 ligoje |
| RPS20ribosomal protein S20 | Dažnai (30–79%) | 1 ligoje |
| RPS6KA3ribosomal protein S6 kinase A3 | Dažnai (30–79%) | 1 ligoje |
| RTEL1regulator of telomere elongation helicase 1 | Dažnai (30–79%) | 1 ligoje |
| SEMA4Asemaphorin 4A | Dažnai (30–79%) | 1 ligoje |
| SIGMAR1sigma receptor chaperone 1 | Dažnai (30–79%) | 1 ligoje |
| SIL1SIL1 nucleotide exchange factor | Dažnai (30–79%) | 1 ligoje |
| SLC1A4solute carrier family 1 member 4 | Dažnai (30–79%) | 1 ligoje |
| SLC25A46solute carrier family 25 member 46 | Dažnai (30–79%) | 1 ligoje |
| SLC30A10solute carrier family 30 member 10 | Dažnai (30–79%) | 1 ligoje |
| SLC6A8solute carrier family 6 member 8 | Dažnai (30–79%) | 2 ligose |
| SMPD4sphingomyelin phosphodiesterase 4 | Dažnai (30–79%) | 1 ligoje |
| SORDsorbitol dehydrogenase | Dažnai (30–79%) | 1 ligoje |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Dažnai (30–79%) | 1 ligoje |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Dažnai (30–79%) | 1 ligoje |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Dažnai (30–79%) | 1 ligoje |
| STT3ASTT3 oligosaccharyltransferase complex catalytic subunit A | Dažnai (30–79%) | 1 ligoje |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Dažnai (30–79%) | 1 ligoje |
| TARDBPTAR DNA binding protein | Dažnai (30–79%) | 1 ligoje |
| TERCtelomerase RNA component | Dažnai (30–79%) | 1 ligoje |
| TERTtelomerase reverse transcriptase | Dažnai (30–79%) | 1 ligoje |
| TGFBR2transforming growth factor beta receptor 2 | Dažnai (30–79%) | 1 ligoje |
| TINF2TERF1 interacting nuclear factor 2 | Dažnai (30–79%) | 2 ligose |
| TM2D3TM2 domain containing 3 | Dažnai (30–79%) | 1 ligoje |
| TRMT2BtRNA methyltransferase 2B | Dažnai (30–79%) | 1 ligoje |
| TRMT5tRNA methyltransferase 5 | Dažnai (30–79%) | 1 ligoje |
| TUBGCP4tubulin gamma complex component 4 | Dažnai (30–79%) | 1 ligoje |
| TUBGCP6tubulin gamma complex component 6 | Dažnai (30–79%) | 1 ligoje |
| UBQLN2ubiquilin 2 | Dažnai (30–79%) | 1 ligoje |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Dažnai (30–79%) | 1 ligoje |
| AARS1alanyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| ACOX1acyl-CoA oxidase 1 | Kartais (5–29%) | 2 ligose |
| ACTA1actin alpha 1, skeletal muscle | Kartais (5–29%) | 1 ligoje |
| AFG2AAAA ATPase AFG2A | Kartais (5–29%) | 1 ligoje |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Kartais (5–29%) | 1 ligoje |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Kartais (5–29%) | 2 ligose |
| ARHGAP31Rho GTPase activating protein 31 | Kartais (5–29%) | 1 ligoje |
| ASXL3ASXL transcriptional regulator 3 | Kartais (5–29%) | 2 ligose |
| CARS1cysteinyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| CFAP20cilia and flagella associated protein 20 | Kartais (5–29%) | 1 ligoje |
| CHMP1Acharged multivesicular body protein 1A | Kartais (5–29%) | 1 ligoje |
| CLPBClpB family mitochondrial disaggregase | Kartais (5–29%) | 1 ligoje |
| CTNNA2catenin alpha 2 | Kartais (5–29%) | 1 ligoje |
| DBR1debranching RNA lariats 1 | Kartais (5–29%) | 1 ligoje |
| DHCR77-dehydrocholesterol reductase | Kartais (5–29%) | 2 ligose |
| DLL4delta like canonical Notch ligand 4 | Kartais (5–29%) | 1 ligoje |
| DOCK6dedicator of cytokinesis 6 | Kartais (5–29%) | 1 ligoje |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Kartais (5–29%) | 2 ligose |
| DPYDdihydropyrimidine dehydrogenase | Kartais (5–29%) | 2 ligose |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Kartais (5–29%) | 1 ligoje |
| EOGTEGF domain specific O-linked N-acetylglucosamine transferase | Kartais (5–29%) | 1 ligoje |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Kartais (5–29%) | 1 ligoje |
| EXTL3exostosin like glycosyltransferase 3 | Kartais (5–29%) | 1 ligoje |
| FBXO22F-box protein 22 | Kartais (5–29%) | 1 ligoje |
| FBXW11F-box and WD repeat domain containing 11 | Kartais (5–29%) | 1 ligoje |
| GAD1glutamate decarboxylase 1 | Kartais (5–29%) | 1 ligoje |
| GNAI1G protein subunit alpha i1 | Kartais (5–29%) | 1 ligoje |
| GON7GON7 subunit of KEOPS complex | Kartais (5–29%) | 1 ligoje |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Kartais (5–29%) | 1 ligoje |
| GTF2E2general transcription factor IIE subunit 2 | Kartais (5–29%) | 1 ligoje |
| GTF3C3general transcription factor IIIC subunit 3 | Kartais (5–29%) | 1 ligoje |
| H1-4H1.4 linker histone, cluster member | Kartais (5–29%) | 1 ligoje |
| HNRNPCheterogeneous nuclear ribonucleoprotein C | Kartais (5–29%) | 1 ligoje |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Kartais (5–29%) | 1 ligoje |
| HS2ST1heparan sulfate 2-O-sulfotransferase 1 | Kartais (5–29%) | 1 ligoje |
| KARS1lysyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Kartais (5–29%) | 1 ligoje |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Kartais (5–29%) | 2 ligose |
| KCNQ3potassium voltage-gated channel subfamily Q member 3 | Kartais (5–29%) | 1 ligoje |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Kartais (5–29%) | 1 ligoje |
| KIF11kinesin family member 11 | Kartais (5–29%) | 1 ligoje |
| LAGE3L antigen family member 3 | Kartais (5–29%) | 1 ligoje |
| LMNB1lamin B1 | Kartais (5–29%) | 1 ligoje |
| LYSTlysosomal trafficking regulator | Kartais (5–29%) | 1 ligoje |
| MIPEPmitochondrial intermediate peptidase | Kartais (5–29%) | 1 ligoje |
| MORC2MORC family CW-type zinc finger 2 | Kartais (5–29%) | 2 ligose |
| MPLKIPM-phase specific PLK1 interacting protein | Kartais (5–29%) | 1 ligoje |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Kartais (5–29%) | 2 ligose |
| NALCNsodium leak channel, non-selective | Kartais (5–29%) | 1 ligoje |
| NDPnorrin cystine knot growth factor NDP | Kartais (5–29%) | 1 ligoje |
| NFIXnuclear factor I X | Kartais (5–29%) | 1 ligoje |
| NOP56NOP56 ribonucleoprotein | Kartais (5–29%) | 1 ligoje |
| NOTCH1notch receptor 1 | Kartais (5–29%) | 1 ligoje |
| NPHP3nephrocystin 3 | Kartais (5–29%) | 1 ligoje |
| NUP107nucleoporin 107 | Kartais (5–29%) | 1 ligoje |
| NUP133nucleoporin 133 | Kartais (5–29%) | 1 ligoje |
| NUP54nucleoporin 54 | Kartais (5–29%) | 1 ligoje |
| NUP62nucleoporin 62 | Kartais (5–29%) | 1 ligoje |
| OSGEPO-sialoglycoprotein endopeptidase | Kartais (5–29%) | 1 ligoje |
| OTUD6BOTU deubiquitinase 6B | Kartais (5–29%) | 2 ligose |
| PCBD1pterin-4 alpha-carbinolamine dehydratase 1 | Kartais (5–29%) | 2 ligose |
| PEX16peroxisomal biogenesis factor 16 | Kartais (5–29%) | 1 ligoje |
| PHGDHphosphoglycerate dehydrogenase | Kartais (5–29%) | 2 ligose |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Kartais (5–29%) | 1 ligoje |
| PLCB1phospholipase C beta 1 | Kartais (5–29%) | 1 ligoje |
| PNPpurine nucleoside phosphorylase | Kartais (5–29%) | 1 ligoje |
| PPFIA3PPFI scaffold protein A3 | Kartais (5–29%) | 1 ligoje |
| PRORPprotein only RNase P catalytic subunit | Kartais (5–29%) | 1 ligoje |
| PRRT2proline rich transmembrane protein 2 | Kartais (5–29%) | 1 ligoje |
| PSPHphosphoserine phosphatase | Kartais (5–29%) | 2 ligose |
| PTS6-pyruvoyltetrahydropterin synthase | Kartais (5–29%) | 2 ligose |
| RAB27ARAB27A, member RAS oncogene family | Kartais (5–29%) | 1 ligoje |
| RBPJrecombination signal binding protein for immunoglobulin kappa J region | Kartais (5–29%) | 1 ligoje |
| RNF113Aring finger protein 113A | Kartais (5–29%) | 1 ligoje |
| RTTNrotatin | Kartais (5–29%) | 1 ligoje |
| SATB2SATB homeobox 2 | Kartais (5–29%) | 1 ligoje |
| SCAF4SR-related CTD associated factor 4 | Kartais (5–29%) | 1 ligoje |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Kartais (5–29%) | 1 ligoje |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Kartais (5–29%) | 2 ligose |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Kartais (5–29%) | 1 ligoje |
| SLC12A5solute carrier family 12 member 5 | Kartais (5–29%) | 1 ligoje |
| SLC25A22solute carrier family 25 member 22 | Kartais (5–29%) | 1 ligoje |
| SLF2SMC5/6 complex localization factor 2 | Kartais (5–29%) | 1 ligoje |
| SPTBN1spectrin beta, non-erythrocytic 1 | Kartais (5–29%) | 1 ligoje |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Kartais (5–29%) | 1 ligoje |
| TANGO2transport and golgi organization 2 homolog | Kartais (5–29%) | 1 ligoje |
| TARS1threonyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| TBC1D24TBC1 domain family member 24 | Kartais (5–29%) | 1 ligoje |
| TBL1XR1TBL1X/Y related 1 | Kartais (5–29%) | 1 ligoje |
| TELO2telomere maintenance 2 | Kartais (5–29%) | 1 ligoje |
| TIMM50translocase of inner mitochondrial membrane 50 | Kartais (5–29%) | 1 ligoje |
| TMEM106Btransmembrane protein 106B | Kartais (5–29%) | 1 ligoje |
| TNPO2transportin 2 | Kartais (5–29%) | 1 ligoje |
| TP53tumor protein p53 | Kartais (5–29%) | 1 ligoje |
| TP53RKTP53 regulating kinase | Kartais (5–29%) | 1 ligoje |
| TPM2tropomyosin 2 | Kartais (5–29%) | 1 ligoje |
| TPRKBTP53RK binding protein | Kartais (5–29%) | 1 ligoje |
| TRAF7TNF receptor associated factor 7 | Kartais (5–29%) | 1 ligoje |
| TTPAalpha tocopherol transfer protein | Kartais (5–29%) | 1 ligoje |
| UNC13Aunc-13 homolog A | Kartais (5–29%) | 1 ligoje |
| VPS13Avacuolar protein sorting 13 homolog A | Kartais (5–29%) | 1 ligoje |
| WDR62WD repeat domain 62 | Kartais (5–29%) | 1 ligoje |
| WDR73WD repeat domain 73 | Kartais (5–29%) | 1 ligoje |
| WLSWnt ligand secretion mediator | Kartais (5–29%) | 1 ligoje |
| YRDCyrdC N6-threonylcarbamoyltransferase domain containing | Kartais (5–29%) | 1 ligoje |
| ZNF292zinc finger protein 292 | Kartais (5–29%) | 1 ligoje |
| ZSWIM6zinc finger SWIM-type containing 6 | Kartais (5–29%) | 1 ligoje |
| ACADSacyl-CoA dehydrogenase short chain | Retai (1–4 %) | 1 ligoje |
| ADNPactivity dependent neuroprotector homeobox | Retai (1–4 %) | 1 ligoje |
| CYB5Acytochrome b5 type A | Retai (1–4 %) | 1 ligoje |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Retai (1–4 %) | 1 ligoje |
| GLB1galactosidase beta 1 | Retai (1–4 %) | 1 ligoje |
| POLG2DNA polymerase gamma 2, accessory subunit | Retai (1–4 %) | 1 ligoje |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Retai (1–4 %) | 1 ligoje |
| SETBP1SET binding protein 1 | Retai (1–4 %) | 2 ligose |
| SLC25A4solute carrier family 25 member 4 | Retai (1–4 %) | 1 ligoje |
| TWNKtwinkle mtDNA helicase | Retai (1–4 %) | 1 ligoje |
| BCKDHAbranched chain keto acid dehydrogenase E1 subunit alpha | Neužfiksuota | 1 ligoje |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Neužfiksuota | 1 ligoje |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Neužfiksuota | 1 ligoje |
| CASKcalcium/calmodulin dependent serine protein kinase | Neužfiksuota | 1 ligoje |
| DNAJC12DnaJ heat shock protein family (Hsp40) member C12 | Neužfiksuota | 1 ligoje |
| EBPEBP cholestenol delta-isomerase | Neužfiksuota | 1 ligoje |
| EIF2AK3eukaryotic translation initiation factor 2 alpha kinase 3 | Neužfiksuota | 1 ligoje |
| GALCgalactosylceramidase | Neužfiksuota | 1 ligoje |
| GM2Aganglioside GM2 activator | Neužfiksuota | 1 ligoje |
| HEPACAMhepatic and glial cell adhesion molecule | Neužfiksuota | 1 ligoje |
| HEXAhexosaminidase subunit alpha | Neužfiksuota | 1 ligoje |
| HLCSholocarboxylase synthetase | Neužfiksuota | 1 ligoje |
| HTRA2HtrA serine peptidase 2 | Neužfiksuota | 1 ligoje |
| HTThuntingtin | Neužfiksuota | 1 ligoje |
| ITM2Bintegral membrane protein 2B | Neužfiksuota | 1 ligoje |
| KCNA4potassium voltage-gated channel subfamily A member 4 | Neužfiksuota | 1 ligoje |
| MAP2K1mitogen-activated protein kinase kinase 1 | Neužfiksuota | 1 ligoje |
| MAP2K2mitogen-activated protein kinase kinase 2 | Neužfiksuota | 1 ligoje |
| MDH1malate dehydrogenase 1 | Neužfiksuota | 1 ligoje |
| MFN2mitofusin 2 | Neužfiksuota | 1 ligoje |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Neužfiksuota | 1 ligoje |
| MOCS2molybdenum cofactor synthesis 2 | Neužfiksuota | 1 ligoje |
| PITX3paired like homeodomain 3 | Neužfiksuota | 1 ligoje |
| PLA2G6phospholipase A2 group VI | Neužfiksuota | 1 ligoje |
| PRF1perforin 1 | Neužfiksuota | 1 ligoje |
| QDPRquinoid dihydropteridine reductase | Neužfiksuota | 1 ligoje |
| SLC12A2solute carrier family 12 member 2 | Neužfiksuota | 1 ligoje |
| SLC19A3solute carrier family 19 member 3 | Neužfiksuota | 1 ligoje |
| SLC6A19solute carrier family 6 member 19 | Neužfiksuota | 1 ligoje |
| SLC6A9solute carrier family 6 member 9 | Neužfiksuota | 1 ligoje |
| SOX10SRY-box transcription factor 10 | Neužfiksuota | 1 ligoje |
| SPOPspeckle type BTB/POZ protein | Neužfiksuota | 1 ligoje |
| SUOXsulfite oxidase | Neužfiksuota | 1 ligoje |
| UNC80unc-80 subunit of NALCN channel complex | Neužfiksuota | 1 ligoje |
| ZNF335zinc finger protein 335 | 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.
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- 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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