Cecha
Spasticity and rigidity of muscles
Nazwa kliniczna: Hypertonia
A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.
Podsumowanie
- Znana także jako
- Hypertonicity, Increased muscle tone
- Układ organizmu
- Abnormality of the musculoskeletal system
Genom referencyjnyGRCh38hg38
Pozycje na stronach genów i wariantów zależą od tego wyboru, w tej przeglądarce.
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Zamawiam Genome Test391 genów powiązanych z Spasticity and rigidity of muscles
Zmiany w tych genach powodują rzadkie choroby, w których występuje Spasticity and rigidity of muscles. 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 |
|---|---|---|
| ADGRG1adhesion G protein-coupled receptor G1 | Zawsze | W 1 chorobie |
| AMPD2adenosine monophosphate deaminase 2 | Zawsze | W 3 chorobach |
| AP4B1adaptor related protein complex 4 subunit beta 1 | Zawsze | W 1 chorobie |
| AP4S1adaptor related protein complex 4 subunit sigma 1 | Zawsze | W 1 chorobie |
| ARHGEF9Cdc42 guanine nucleotide exchange factor 9 | Zawsze | W 2 chorobach |
| ARL13BARF like GTPase 13B | Zawsze | W 1 chorobie |
| ARXaristaless related homeobox | Zawsze | W 2 chorobach |
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Zawsze | W 1 chorobie |
| ATAD1ATPase family AAA domain containing 1 | Zawsze | W 2 chorobach |
| ATP13A2ATPase cation transporting 13A2 | Zawsze | W 3 chorobach |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Zawsze | W 1 chorobie |
| CDK19cyclin dependent kinase 19 | Zawsze | W 1 chorobie |
| CHKAcholine kinase alpha | Zawsze | W 1 chorobie |
| COQ4coenzyme Q4 | Zawsze | W 1 chorobie |
| COQ9coenzyme Q9 | Zawsze | W 1 chorobie |
| COX18cytochrome c oxidase assembly factor COX18 | Zawsze | W 1 chorobie |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Zawsze | W 1 chorobie |
| CTCFCCCTC-binding factor | Zawsze | W 1 chorobie |
| CYB5R3cytochrome b5 reductase 3 | Zawsze | W 2 chorobach |
| DNM1Ldynamin 1L | Zawsze | W 1 chorobie |
| EIF4A2eukaryotic translation initiation factor 4A2 | Zawsze | W 1 chorobie |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Zawsze | W 2 chorobach |
| FDXRferredoxin reductase | Zawsze | W 2 chorobach |
| FEM1Bfem-1 homolog B | Zawsze | W 1 chorobie |
| FTOFTO alpha-ketoglutarate dependent dioxygenase | Zawsze | W 1 chorobie |
| GCSHglycine cleavage system protein H | Zawsze | W 1 chorobie |
| GFM1G elongation factor mitochondrial 1 | Zawsze | W 1 chorobie |
| GLI2GLI family zinc finger 2 | Zawsze | W 1 chorobie |
| GLRBglycine receptor beta | Zawsze | W 2 chorobach |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Zawsze | W 1 chorobie |
| GPHNgephyrin | Zawsze | W 3 chorobach |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Zawsze | W 1 chorobie |
| GTF2H5general transcription factor IIH subunit 5 | Zawsze | W 2 chorobach |
| IREB2iron responsive element binding protein 2 | Zawsze | W 1 chorobie |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Zawsze | W 1 chorobie |
| KDM2Blysine demethylase 2B | Zawsze | W 1 chorobie |
| KDM6Blysine demethylase 6B | Zawsze | W 1 chorobie |
| KIF5Ckinesin family member 5C | Zawsze | W 1 chorobie |
| MBOAT7membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7 | Zawsze | W 1 chorobie |
| MED17mediator complex subunit 17 | Zawsze | W 1 chorobie |
Pokaż jeszcze 351 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| MOCS3molybdenum cofactor synthesis 3 | Zawsze | W 1 chorobie |
| NFASCneurofascin | Zawsze | W 1 chorobie |
| NIPBLNIPBL cohesin loading factor | Zawsze | W 2 chorobach |
| OPA1OPA1 mitochondrial dynamin like GTPase | Zawsze | W 1 chorobie |
| PEX11Bperoxisomal biogenesis factor 11 beta | Zawsze | W 1 chorobie |
| PI4KAphosphatidylinositol 4-kinase alpha | Zawsze | W 1 chorobie |
| PLAAphospholipase A2 activating protein | Zawsze | W 1 chorobie |
| POLR1ARNA polymerase I subunit A | Zawsze | W 1 chorobie |
| PSAPprosaposin | Zawsze | W 1 chorobie |
| PTPN23protein tyrosine phosphatase non-receptor type 23 | Zawsze | W 1 chorobie |
| RNF13ring finger protein 13 | Zawsze | W 2 chorobach |
| RNU2-2RNA, U2 small nuclear 2 | Zawsze | W 1 chorobie |
| SCO2synthesis of cytochrome C oxidase 2 | Zawsze | W 1 chorobie |
| SEC31ASEC31 homolog A, COPII component | Zawsze | W 1 chorobie |
| SGSM3small G protein signaling modulator 3 | Zawsze | W 1 chorobie |
| SLC2A1solute carrier family 2 member 1 | Zawsze | W 3 chorobach |
| SLC6A3solute carrier family 6 member 3 | Zawsze | W 2 chorobach |
| SMAD4SMAD family member 4 | Zawsze | W 1 chorobie |
| SMC1Astructural maintenance of chromosomes 1A | Zawsze | W 2 chorobach |
| SOD1superoxide dismutase 1 | Zawsze | W 1 chorobie |
| SPG21SPG21 abhydrolase domain containing, maspardin | Zawsze | W 1 chorobie |
| SUPT7LSPT7 like, STAGA complex subunit gamma | Zawsze | W 1 chorobie |
| TMX2thioredoxin related transmembrane protein 2 | Zawsze | W 1 chorobie |
| TOR1Atorsin family 1 member A | Zawsze | W 3 chorobach |
| TSEN54tRNA splicing endonuclease subunit 54 | Zawsze | W 2 chorobach |
| VAC14VAC14 component of PIKFYVE complex | Zawsze | W 1 chorobie |
| VARS2valyl-tRNA synthetase 2, mitochondrial | Zawsze | W 1 chorobie |
| VPS53VPS53 subunit of GARP complex | Zawsze | W 1 chorobie |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Zawsze | W 3 chorobach |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Zawsze | W 2 chorobach |
| ADARadenosine deaminase RNA specific | Bardzo często (80–99%) | W 2 chorobach |
| APPamyloid beta precursor protein | Bardzo często (80–99%) | W 1 chorobie |
| ATP7AATPase copper transporting alpha | Bardzo często (80–99%) | W 2 chorobach |
| BRD4bromodomain containing 4 | Bardzo często (80–99%) | W 1 chorobie |
| CLCF1cardiotrophin like cytokine factor 1 | Bardzo często (80–99%) | W 1 chorobie |
| CRLF1cytokine receptor like factor 1 | Bardzo często (80–99%) | W 1 chorobie |
| CRYABcrystallin alpha B | Bardzo często (80–99%) | W 1 chorobie |
| DHCR2424-dehydrocholesterol reductase | Bardzo często (80–99%) | W 1 chorobie |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Bardzo często (80–99%) | W 2 chorobach |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Bardzo często (80–99%) | W 2 chorobach |
| ERCC5ERCC excision repair 5, endonuclease | Bardzo często (80–99%) | W 1 chorobie |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Bardzo często (80–99%) | W 2 chorobach |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Bardzo często (80–99%) | W 2 chorobach |
| GLRA1glycine receptor alpha 1 | Bardzo często (80–99%) | W 2 chorobach |
| GPT2glutamic--pyruvic transaminase 2 | Bardzo często (80–99%) | W 1 chorobie |
| HDAC8histone deacetylase 8 | Bardzo często (80–99%) | W 1 chorobie |
| HIKESHIheat shock protein nuclear import factor hikeshi | Bardzo często (80–99%) | W 1 chorobie |
| HSPG2heparan sulfate proteoglycan 2 | Bardzo często (80–99%) | W 1 chorobie |
| IFIH1interferon induced with helicase C domain 1 | Bardzo często (80–99%) | W 2 chorobach |
| LSM11LSM11, U7 small nuclear RNA associated | Bardzo często (80–99%) | W 1 chorobie |
| MAU2MAU2 sister chromatid cohesion factor | Bardzo często (80–99%) | W 1 chorobie |
| MYO5Amyosin VA | Bardzo często (80–99%) | W 2 chorobach |
| NFU1NFU1 iron-sulfur cluster scaffold | Bardzo często (80–99%) | W 2 chorobach |
| NSD1nuclear receptor binding SET domain protein 1 | Bardzo często (80–99%) | W 1 chorobie |
| OGDHoxoglutarate dehydrogenase | Bardzo często (80–99%) | W 1 chorobie |
| POLR3ARNA polymerase III subunit A | Bardzo często (80–99%) | W 2 chorobach |
| PSEN1presenilin 1 | Bardzo często (80–99%) | W 1 chorobie |
| PSEN2presenilin 2 | Bardzo często (80–99%) | W 1 chorobie |
| RAD21RAD21 cohesin complex component | Bardzo często (80–99%) | W 1 chorobie |
| RBMXRNA binding motif protein X-linked | Bardzo często (80–99%) | W 1 chorobie |
| RNASEH2Aribonuclease H2 subunit A | Bardzo często (80–99%) | W 1 chorobie |
| RNASEH2Bribonuclease H2 subunit B | Bardzo często (80–99%) | W 1 chorobie |
| RNASEH2Cribonuclease H2 subunit C | Bardzo często (80–99%) | W 1 chorobie |
| RNU4ATACRNA, U4atac small nuclear | Bardzo często (80–99%) | W 1 chorobie |
| RNU7-1RNA, U7 small nuclear 1 | Bardzo często (80–99%) | W 2 chorobach |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Bardzo często (80–99%) | W 1 chorobie |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Bardzo często (80–99%) | W 3 chorobach |
| SHQ1SHQ1, H/ACA ribonucleoprotein assembly factor | Bardzo często (80–99%) | W 1 chorobie |
| SLC18A2solute carrier family 18 member A2 | Bardzo często (80–99%) | W 1 chorobie |
| SLC6A5solute carrier family 6 member 5 | Bardzo często (80–99%) | W 2 chorobach |
| SMC3structural maintenance of chromosomes 3 | Bardzo często (80–99%) | W 1 chorobie |
| SORL1sortilin related receptor 1 | Bardzo często (80–99%) | W 1 chorobie |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Bardzo często (80–99%) | W 1 chorobie |
| TOE1target of EGR1, exonuclease | Bardzo często (80–99%) | W 2 chorobach |
| TOMM40translocase of outer mitochondrial membrane 40 | Bardzo często (80–99%) | W 1 chorobie |
| TREM2triggering receptor expressed on myeloid cells 2 | Bardzo często (80–99%) | W 1 chorobie |
| TREX1three prime repair exonuclease 1 | Bardzo często (80–99%) | W 1 chorobie |
| VAMP1vesicle associated membrane protein 1 | Bardzo często (80–99%) | W 1 chorobie |
| ZNF526zinc finger protein 526 | Bardzo często (80–99%) | W 1 chorobie |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Często (30–79%) | W 1 chorobie |
| AHDC1AT-hook DNA binding motif containing 1 | Często (30–79%) | W 1 chorobie |
| ALG11ALG11 alpha-1,2-mannosyltransferase | Często (30–79%) | W 1 chorobie |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Często (30–79%) | W 2 chorobach |
| APC2APC regulator of Wnt signaling pathway 2 | Często (30–79%) | W 1 chorobie |
| ATMATM serine/threonine kinase | Często (30–79%) | W 1 chorobie |
| AUTS2activator of transcription and developmental regulator AUTS2 | Często (30–79%) | W 2 chorobach |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Często (30–79%) | W 1 chorobie |
| BMPR1Abone morphogenetic protein receptor type 1A | Często (30–79%) | W 1 chorobie |
| BRAT1BRCA1 associated ATM activator 1 | Często (30–79%) | W 2 chorobach |
| BRCA2BRCA2 DNA repair associated | Często (30–79%) | W 1 chorobie |
| C12orf57chromosome 12 open reading frame 57 | Często (30–79%) | W 1 chorobie |
| CDC40cell division cycle 40 | Często (30–79%) | W 1 chorobie |
| CHEK2checkpoint kinase 2 | Często (30–79%) | W 1 chorobie |
| CITcitron rho-interacting serine/threonine kinase | Często (30–79%) | W 1 chorobie |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Często (30–79%) | W 1 chorobie |
| CRPPACDP-L-ribitol pyrophosphorylase A | Często (30–79%) | W 1 chorobie |
| DKC1dyskerin pseudouridine synthase 1 | Często (30–79%) | W 1 chorobie |
| DLATdihydrolipoamide S-acetyltransferase | Często (30–79%) | W 1 chorobie |
| DTYMKdeoxythymidylate kinase | Często (30–79%) | W 1 chorobie |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Często (30–79%) | W 1 chorobie |
| EPCAMepithelial cell adhesion molecule | Często (30–79%) | W 1 chorobie |
| ERLIN1ER lipid raft associated 1 | Często (30–79%) | W 1 chorobie |
| EXOC8exocyst complex component 8 | Często (30–79%) | W 1 chorobie |
| FGFR1fibroblast growth factor receptor 1 | Często (30–79%) | W 1 chorobie |
| FKRPfukutin related protein | Często (30–79%) | W 1 chorobie |
| FKTNfukutin | Często (30–79%) | W 1 chorobie |
| FRMD4AFERM domain containing 4A | Często (30–79%) | W 1 chorobie |
| FUSFUS RNA binding protein | Często (30–79%) | W 1 chorobie |
| GAMTguanidinoacetate N-methyltransferase | Często (30–79%) | W 1 chorobie |
| GBA1glucosylceramidase beta 1 | Często (30–79%) | W 3 chorobach |
| GLRX5glutaredoxin 5 | Często (30–79%) | W 1 chorobie |
| GMPPBGDP-mannose pyrophosphorylase B | Często (30–79%) | W 2 chorobach |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Często (30–79%) | W 1 chorobie |
| GRIA4glutamate ionotropic receptor AMPA type subunit 4 | Często (30–79%) | W 1 chorobie |
| JAM2junctional adhesion molecule 2 | Często (30–79%) | W 1 chorobie |
| KCNJ6potassium inwardly rectifying channel subfamily J member 6 | Często (30–79%) | W 2 chorobach |
| KRASKRas proto-oncogene, GTPase | Często (30–79%) | W 3 chorobach |
| KYNUkynureninase | Często (30–79%) | W 1 chorobie |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Często (30–79%) | W 1 chorobie |
| LINGO1leucine rich repeat and Ig domain containing 1 | Często (30–79%) | W 1 chorobie |
| MLH1mutL homolog 1 | Często (30–79%) | W 1 chorobie |
| MPDU1mannose-P-dolichol utilization defect 1 | Często (30–79%) | W 2 chorobach |
| MSH2mutS homolog 2 | Często (30–79%) | W 1 chorobie |
| MSH6mutS homolog 6 | Często (30–79%) | W 1 chorobie |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Często (30–79%) | W 2 chorobach |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Często (30–79%) | W 1 chorobie |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Często (30–79%) | W 1 chorobie |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Często (30–79%) | W 1 chorobie |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Często (30–79%) | W 1 chorobie |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Często (30–79%) | W 1 chorobie |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Często (30–79%) | W 1 chorobie |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Często (30–79%) | W 1 chorobie |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Często (30–79%) | W 1 chorobie |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Często (30–79%) | W 1 chorobie |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Często (30–79%) | W 1 chorobie |
| MTHFSmethenyltetrahydrofolate synthetase | Często (30–79%) | W 1 chorobie |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Często (30–79%) | W 1 chorobie |
| MUTYHmutY DNA glycosylase | Często (30–79%) | W 1 chorobie |
| NAGSN-acetylglutamate synthase | Często (30–79%) | W 1 chorobie |
| NARS1asparaginyl-tRNA synthetase 1 | Często (30–79%) | W 2 chorobach |
| NCAPG2non-SMC condensin II complex subunit G2 | Często (30–79%) | W 1 chorobie |
| NDE1nudE neurodevelopment protein 1 | Często (30–79%) | W 1 chorobie |
| NDUFA8NADH:ubiquinone oxidoreductase subunit A8 | Często (30–79%) | W 1 chorobie |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Często (30–79%) | W 1 chorobie |
| NOTCH2NLCnotch 2 N-terminal like C | Często (30–79%) | W 1 chorobie |
| NPATnuclear protein, coactivator of histone transcription | Często (30–79%) | W 1 chorobie |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Często (30–79%) | W 1 chorobie |
| NUP214nucleoporin 214 | Często (30–79%) | W 1 chorobie |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Często (30–79%) | W 1 chorobie |
| PARNpoly(A)-specific ribonuclease | Często (30–79%) | W 1 chorobie |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Często (30–79%) | W 1 chorobie |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Często (30–79%) | W 1 chorobie |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Często (30–79%) | W 1 chorobie |
| PLK4polo like kinase 4 | Często (30–79%) | W 1 chorobie |
| PLPBPpyridoxal phosphate binding protein | Często (30–79%) | W 1 chorobie |
| PMS1PMS1 homolog 1, mismatch repair system component | Często (30–79%) | W 1 chorobie |
| PMS2PMS1 homolog 2, mismatch repair system component | Często (30–79%) | W 1 chorobie |
| PNPOpyridoxamine 5'-phosphate oxidase | Często (30–79%) | W 2 chorobach |
| POLD1DNA polymerase delta 1, catalytic subunit | Często (30–79%) | W 1 chorobie |
| POLEDNA polymerase epsilon, catalytic subunit | Często (30–79%) | W 1 chorobie |
| POLGDNA polymerase gamma, catalytic subunit | Często (30–79%) | W 2 chorobach |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Często (30–79%) | W 1 chorobie |
| POMT1protein O-mannosyltransferase 1 | Często (30–79%) | W 1 chorobie |
| POMT2protein O-mannosyltransferase 2 | Często (30–79%) | W 1 chorobie |
| PPFIBP1PPFIB scaffold protein 1 | Często (30–79%) | W 1 chorobie |
| PPIL1peptidylprolyl isomerase like 1 | Często (30–79%) | W 1 chorobie |
| PRDM13PR/SET domain 13 | Często (30–79%) | W 1 chorobie |
| PSAT1phosphoserine aminotransferase 1 | Często (30–79%) | W 2 chorobach |
| RANBP2RAN binding protein 2 | Często (30–79%) | W 2 chorobach |
| REEP1receptor accessory protein 1 | Często (30–79%) | W 1 chorobie |
| RPS20ribosomal protein S20 | Często (30–79%) | W 1 chorobie |
| RPS6KA3ribosomal protein S6 kinase A3 | Często (30–79%) | W 1 chorobie |
| RTEL1regulator of telomere elongation helicase 1 | Często (30–79%) | W 1 chorobie |
| SEMA4Asemaphorin 4A | Często (30–79%) | W 1 chorobie |
| SIGMAR1sigma receptor chaperone 1 | Często (30–79%) | W 1 chorobie |
| SIL1SIL1 nucleotide exchange factor | Często (30–79%) | W 1 chorobie |
| SLC1A4solute carrier family 1 member 4 | Często (30–79%) | W 1 chorobie |
| SLC25A46solute carrier family 25 member 46 | Często (30–79%) | W 1 chorobie |
| SLC30A10solute carrier family 30 member 10 | Często (30–79%) | W 1 chorobie |
| SLC6A8solute carrier family 6 member 8 | Często (30–79%) | W 2 chorobach |
| SMPD4sphingomyelin phosphodiesterase 4 | Często (30–79%) | W 1 chorobie |
| SORDsorbitol dehydrogenase | Często (30–79%) | W 1 chorobie |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Często (30–79%) | W 1 chorobie |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Często (30–79%) | W 1 chorobie |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Często (30–79%) | W 1 chorobie |
| STT3ASTT3 oligosaccharyltransferase complex catalytic subunit A | Często (30–79%) | W 1 chorobie |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Często (30–79%) | W 1 chorobie |
| TARDBPTAR DNA binding protein | Często (30–79%) | W 1 chorobie |
| TERCtelomerase RNA component | Często (30–79%) | W 1 chorobie |
| TERTtelomerase reverse transcriptase | Często (30–79%) | W 1 chorobie |
| TGFBR2transforming growth factor beta receptor 2 | Często (30–79%) | W 1 chorobie |
| TINF2TERF1 interacting nuclear factor 2 | Często (30–79%) | W 2 chorobach |
| TM2D3TM2 domain containing 3 | Często (30–79%) | W 1 chorobie |
| TRMT2BtRNA methyltransferase 2B | Często (30–79%) | W 1 chorobie |
| TRMT5tRNA methyltransferase 5 | Często (30–79%) | W 1 chorobie |
| TUBGCP4tubulin gamma complex component 4 | Często (30–79%) | W 1 chorobie |
| TUBGCP6tubulin gamma complex component 6 | Często (30–79%) | W 1 chorobie |
| UBQLN2ubiquilin 2 | Często (30–79%) | W 1 chorobie |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Często (30–79%) | W 1 chorobie |
| AARS1alanyl-tRNA synthetase 1 | Czasami (5–29%) | W 1 chorobie |
| ACOX1acyl-CoA oxidase 1 | Czasami (5–29%) | W 2 chorobach |
| ACTA1actin alpha 1, skeletal muscle | Czasami (5–29%) | W 1 chorobie |
| AFG2AAAA ATPase AFG2A | Czasami (5–29%) | W 1 chorobie |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Czasami (5–29%) | W 1 chorobie |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Czasami (5–29%) | W 2 chorobach |
| ARHGAP31Rho GTPase activating protein 31 | Czasami (5–29%) | W 1 chorobie |
| ASXL3ASXL transcriptional regulator 3 | Czasami (5–29%) | W 2 chorobach |
| CARS1cysteinyl-tRNA synthetase 1 | Czasami (5–29%) | W 1 chorobie |
| CFAP20cilia and flagella associated protein 20 | Czasami (5–29%) | W 1 chorobie |
| CHMP1Acharged multivesicular body protein 1A | Czasami (5–29%) | W 1 chorobie |
| CLPBClpB family mitochondrial disaggregase | Czasami (5–29%) | W 1 chorobie |
| CTNNA2catenin alpha 2 | Czasami (5–29%) | W 1 chorobie |
| DBR1debranching RNA lariats 1 | Czasami (5–29%) | W 1 chorobie |
| DHCR77-dehydrocholesterol reductase | Czasami (5–29%) | W 2 chorobach |
| DLL4delta like canonical Notch ligand 4 | Czasami (5–29%) | W 1 chorobie |
| DOCK6dedicator of cytokinesis 6 | Czasami (5–29%) | W 1 chorobie |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Czasami (5–29%) | W 2 chorobach |
| DPYDdihydropyrimidine dehydrogenase | Czasami (5–29%) | W 2 chorobach |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Czasami (5–29%) | W 1 chorobie |
| EOGTEGF domain specific O-linked N-acetylglucosamine transferase | Czasami (5–29%) | W 1 chorobie |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Czasami (5–29%) | W 1 chorobie |
| EXTL3exostosin like glycosyltransferase 3 | Czasami (5–29%) | W 1 chorobie |
| FBXO22F-box protein 22 | Czasami (5–29%) | W 1 chorobie |
| FBXW11F-box and WD repeat domain containing 11 | Czasami (5–29%) | W 1 chorobie |
| GAD1glutamate decarboxylase 1 | Czasami (5–29%) | W 1 chorobie |
| GNAI1G protein subunit alpha i1 | Czasami (5–29%) | W 1 chorobie |
| GON7GON7 subunit of KEOPS complex | Czasami (5–29%) | W 1 chorobie |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Czasami (5–29%) | W 1 chorobie |
| GTF2E2general transcription factor IIE subunit 2 | Czasami (5–29%) | W 1 chorobie |
| GTF3C3general transcription factor IIIC subunit 3 | Czasami (5–29%) | W 1 chorobie |
| H1-4H1.4 linker histone, cluster member | Czasami (5–29%) | W 1 chorobie |
| HNRNPCheterogeneous nuclear ribonucleoprotein C | Czasami (5–29%) | W 1 chorobie |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Czasami (5–29%) | W 1 chorobie |
| HS2ST1heparan sulfate 2-O-sulfotransferase 1 | Czasami (5–29%) | W 1 chorobie |
| KARS1lysyl-tRNA synthetase 1 | Czasami (5–29%) | W 1 chorobie |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Czasami (5–29%) | W 1 chorobie |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Czasami (5–29%) | W 2 chorobach |
| KCNQ3potassium voltage-gated channel subfamily Q member 3 | Czasami (5–29%) | W 1 chorobie |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Czasami (5–29%) | W 1 chorobie |
| KIF11kinesin family member 11 | Czasami (5–29%) | W 1 chorobie |
| LAGE3L antigen family member 3 | Czasami (5–29%) | W 1 chorobie |
| LMNB1lamin B1 | Czasami (5–29%) | W 1 chorobie |
| LYSTlysosomal trafficking regulator | Czasami (5–29%) | W 1 chorobie |
| MIPEPmitochondrial intermediate peptidase | Czasami (5–29%) | W 1 chorobie |
| MORC2MORC family CW-type zinc finger 2 | Czasami (5–29%) | W 2 chorobach |
| MPLKIPM-phase specific PLK1 interacting protein | Czasami (5–29%) | W 1 chorobie |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Czasami (5–29%) | W 2 chorobach |
| NALCNsodium leak channel, non-selective | Czasami (5–29%) | W 1 chorobie |
| NDPnorrin cystine knot growth factor NDP | Czasami (5–29%) | W 1 chorobie |
| NFIXnuclear factor I X | Czasami (5–29%) | W 1 chorobie |
| NOP56NOP56 ribonucleoprotein | Czasami (5–29%) | W 1 chorobie |
| NOTCH1notch receptor 1 | Czasami (5–29%) | W 1 chorobie |
| NPHP3nephrocystin 3 | Czasami (5–29%) | W 1 chorobie |
| NUP107nucleoporin 107 | Czasami (5–29%) | W 1 chorobie |
| NUP133nucleoporin 133 | Czasami (5–29%) | W 1 chorobie |
| NUP54nucleoporin 54 | Czasami (5–29%) | W 1 chorobie |
| NUP62nucleoporin 62 | Czasami (5–29%) | W 1 chorobie |
| OSGEPO-sialoglycoprotein endopeptidase | Czasami (5–29%) | W 1 chorobie |
| OTUD6BOTU deubiquitinase 6B | Czasami (5–29%) | W 2 chorobach |
| PCBD1pterin-4 alpha-carbinolamine dehydratase 1 | Czasami (5–29%) | W 2 chorobach |
| PEX16peroxisomal biogenesis factor 16 | Czasami (5–29%) | W 1 chorobie |
| PHGDHphosphoglycerate dehydrogenase | Czasami (5–29%) | W 2 chorobach |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Czasami (5–29%) | W 1 chorobie |
| PLCB1phospholipase C beta 1 | Czasami (5–29%) | W 1 chorobie |
| PNPpurine nucleoside phosphorylase | Czasami (5–29%) | W 1 chorobie |
| PPFIA3PPFI scaffold protein A3 | Czasami (5–29%) | W 1 chorobie |
| PRORPprotein only RNase P catalytic subunit | Czasami (5–29%) | W 1 chorobie |
| PRRT2proline rich transmembrane protein 2 | Czasami (5–29%) | W 1 chorobie |
| PSPHphosphoserine phosphatase | Czasami (5–29%) | W 2 chorobach |
| PTS6-pyruvoyltetrahydropterin synthase | Czasami (5–29%) | W 2 chorobach |
| RAB27ARAB27A, member RAS oncogene family | Czasami (5–29%) | W 1 chorobie |
| RBPJrecombination signal binding protein for immunoglobulin kappa J region | Czasami (5–29%) | W 1 chorobie |
| RNF113Aring finger protein 113A | Czasami (5–29%) | W 1 chorobie |
| RTTNrotatin | Czasami (5–29%) | W 1 chorobie |
| SATB2SATB homeobox 2 | Czasami (5–29%) | W 1 chorobie |
| SCAF4SR-related CTD associated factor 4 | Czasami (5–29%) | W 1 chorobie |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Czasami (5–29%) | W 1 chorobie |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Czasami (5–29%) | W 2 chorobach |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Czasami (5–29%) | W 1 chorobie |
| SLC12A5solute carrier family 12 member 5 | Czasami (5–29%) | W 1 chorobie |
| SLC25A22solute carrier family 25 member 22 | Czasami (5–29%) | W 1 chorobie |
| SLF2SMC5/6 complex localization factor 2 | Czasami (5–29%) | W 1 chorobie |
| SPTBN1spectrin beta, non-erythrocytic 1 | Czasami (5–29%) | W 1 chorobie |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Czasami (5–29%) | W 1 chorobie |
| TANGO2transport and golgi organization 2 homolog | Czasami (5–29%) | W 1 chorobie |
| TARS1threonyl-tRNA synthetase 1 | Czasami (5–29%) | W 1 chorobie |
| TBC1D24TBC1 domain family member 24 | Czasami (5–29%) | W 1 chorobie |
| TBL1XR1TBL1X/Y related 1 | Czasami (5–29%) | W 1 chorobie |
| TELO2telomere maintenance 2 | Czasami (5–29%) | W 1 chorobie |
| TIMM50translocase of inner mitochondrial membrane 50 | Czasami (5–29%) | W 1 chorobie |
| TMEM106Btransmembrane protein 106B | Czasami (5–29%) | W 1 chorobie |
| TNPO2transportin 2 | Czasami (5–29%) | W 1 chorobie |
| TP53tumor protein p53 | Czasami (5–29%) | W 1 chorobie |
| TP53RKTP53 regulating kinase | Czasami (5–29%) | W 1 chorobie |
| TPM2tropomyosin 2 | Czasami (5–29%) | W 1 chorobie |
| TPRKBTP53RK binding protein | Czasami (5–29%) | W 1 chorobie |
| TRAF7TNF receptor associated factor 7 | Czasami (5–29%) | W 1 chorobie |
| TTPAalpha tocopherol transfer protein | Czasami (5–29%) | W 1 chorobie |
| UNC13Aunc-13 homolog A | Czasami (5–29%) | W 1 chorobie |
| VPS13Avacuolar protein sorting 13 homolog A | Czasami (5–29%) | W 1 chorobie |
| WDR62WD repeat domain 62 | Czasami (5–29%) | W 1 chorobie |
| WDR73WD repeat domain 73 | Czasami (5–29%) | W 1 chorobie |
| WLSWnt ligand secretion mediator | Czasami (5–29%) | W 1 chorobie |
| YRDCyrdC N6-threonylcarbamoyltransferase domain containing | Czasami (5–29%) | W 1 chorobie |
| ZNF292zinc finger protein 292 | Czasami (5–29%) | W 1 chorobie |
| ZSWIM6zinc finger SWIM-type containing 6 | Czasami (5–29%) | W 1 chorobie |
| ACADSacyl-CoA dehydrogenase short chain | Rzadko (1–4%) | W 1 chorobie |
| ADNPactivity dependent neuroprotector homeobox | Rzadko (1–4%) | W 1 chorobie |
| CYB5Acytochrome b5 type A | Rzadko (1–4%) | W 1 chorobie |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Rzadko (1–4%) | W 1 chorobie |
| GLB1galactosidase beta 1 | Rzadko (1–4%) | W 1 chorobie |
| POLG2DNA polymerase gamma 2, accessory subunit | Rzadko (1–4%) | W 1 chorobie |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Rzadko (1–4%) | W 1 chorobie |
| SETBP1SET binding protein 1 | Rzadko (1–4%) | W 2 chorobach |
| SLC25A4solute carrier family 25 member 4 | Rzadko (1–4%) | W 1 chorobie |
| TWNKtwinkle mtDNA helicase | Rzadko (1–4%) | W 1 chorobie |
| BCKDHAbranched chain keto acid dehydrogenase E1 subunit alpha | Nie odnotowano | W 1 chorobie |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Nie odnotowano | W 1 chorobie |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Nie odnotowano | W 1 chorobie |
| CASKcalcium/calmodulin dependent serine protein kinase | Nie odnotowano | W 1 chorobie |
| DNAJC12DnaJ heat shock protein family (Hsp40) member C12 | Nie odnotowano | W 1 chorobie |
| EBPEBP cholestenol delta-isomerase | Nie odnotowano | W 1 chorobie |
| EIF2AK3eukaryotic translation initiation factor 2 alpha kinase 3 | Nie odnotowano | W 1 chorobie |
| GALCgalactosylceramidase | Nie odnotowano | W 1 chorobie |
| GM2Aganglioside GM2 activator | Nie odnotowano | W 1 chorobie |
| HEPACAMhepatic and glial cell adhesion molecule | Nie odnotowano | W 1 chorobie |
| HEXAhexosaminidase subunit alpha | Nie odnotowano | W 1 chorobie |
| HLCSholocarboxylase synthetase | Nie odnotowano | W 1 chorobie |
| HTRA2HtrA serine peptidase 2 | Nie odnotowano | W 1 chorobie |
| HTThuntingtin | Nie odnotowano | W 1 chorobie |
| ITM2Bintegral membrane protein 2B | Nie odnotowano | W 1 chorobie |
| KCNA4potassium voltage-gated channel subfamily A member 4 | Nie odnotowano | W 1 chorobie |
| MAP2K1mitogen-activated protein kinase kinase 1 | Nie odnotowano | W 1 chorobie |
| MAP2K2mitogen-activated protein kinase kinase 2 | Nie odnotowano | W 1 chorobie |
| MDH1malate dehydrogenase 1 | Nie odnotowano | W 1 chorobie |
| MFN2mitofusin 2 | Nie odnotowano | W 1 chorobie |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Nie odnotowano | W 1 chorobie |
| MOCS2molybdenum cofactor synthesis 2 | Nie odnotowano | W 1 chorobie |
| PITX3paired like homeodomain 3 | Nie odnotowano | W 1 chorobie |
| PLA2G6phospholipase A2 group VI | Nie odnotowano | W 1 chorobie |
| PRF1perforin 1 | Nie odnotowano | W 1 chorobie |
| QDPRquinoid dihydropteridine reductase | Nie odnotowano | W 1 chorobie |
| SLC12A2solute carrier family 12 member 2 | Nie odnotowano | W 1 chorobie |
| SLC19A3solute carrier family 19 member 3 | Nie odnotowano | W 1 chorobie |
| SLC6A19solute carrier family 6 member 19 | Nie odnotowano | W 1 chorobie |
| SLC6A9solute carrier family 6 member 9 | Nie odnotowano | W 1 chorobie |
| SOX10SRY-box transcription factor 10 | Nie odnotowano | W 1 chorobie |
| SPOPspeckle type BTB/POZ protein | Nie odnotowano | W 1 chorobie |
| SUOXsulfite oxidase | Nie odnotowano | W 1 chorobie |
| UNC80unc-80 subunit of NALCN channel complex | Nie odnotowano | W 1 chorobie |
| ZNF335zinc finger protein 335 | 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 podrzędne
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.
Jeden test. Odpowiedzi na całe życie.
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