Træk
Spasticity and rigidity of muscles
Klinisk navn: Hypertonia
A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.
Resumé
- Også kaldet
- Hypertonicity, Increased muscle tone
- Kropssystem
- Abnormality of the musculoskeletal system
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
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Ændringer i disse gener forårsager sjældne tilstande, hvor Spasticity and rigidity of muscles ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ADGRG1adhesion G protein-coupled receptor G1 | Altid | I 1 tilstand |
| AMPD2adenosine monophosphate deaminase 2 | Altid | I 3 tilstande |
| AP4B1adaptor related protein complex 4 subunit beta 1 | Altid | I 1 tilstand |
| AP4S1adaptor related protein complex 4 subunit sigma 1 | Altid | I 1 tilstand |
| ARHGEF9Cdc42 guanine nucleotide exchange factor 9 | Altid | I 2 tilstande |
| ARL13BARF like GTPase 13B | Altid | I 1 tilstand |
| ARXaristaless related homeobox | Altid | I 2 tilstande |
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Altid | I 1 tilstand |
| ATAD1ATPase family AAA domain containing 1 | Altid | I 2 tilstande |
| ATP13A2ATPase cation transporting 13A2 | Altid | I 3 tilstande |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Altid | I 1 tilstand |
| CDK19cyclin dependent kinase 19 | Altid | I 1 tilstand |
| CHKAcholine kinase alpha | Altid | I 1 tilstand |
| COQ4coenzyme Q4 | Altid | I 1 tilstand |
| COQ9coenzyme Q9 | Altid | I 1 tilstand |
| COX18cytochrome c oxidase assembly factor COX18 | Altid | I 1 tilstand |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Altid | I 1 tilstand |
| CTCFCCCTC-binding factor | Altid | I 1 tilstand |
| CYB5R3cytochrome b5 reductase 3 | Altid | I 2 tilstande |
| DNM1Ldynamin 1L | Altid | I 1 tilstand |
| EIF4A2eukaryotic translation initiation factor 4A2 | Altid | I 1 tilstand |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Altid | I 2 tilstande |
| FDXRferredoxin reductase | Altid | I 2 tilstande |
| FEM1Bfem-1 homolog B | Altid | I 1 tilstand |
| FTOFTO alpha-ketoglutarate dependent dioxygenase | Altid | I 1 tilstand |
| GCSHglycine cleavage system protein H | Altid | I 1 tilstand |
| GFM1G elongation factor mitochondrial 1 | Altid | I 1 tilstand |
| GLI2GLI family zinc finger 2 | Altid | I 1 tilstand |
| GLRBglycine receptor beta | Altid | I 2 tilstande |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Altid | I 1 tilstand |
| GPHNgephyrin | Altid | I 3 tilstande |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Altid | I 1 tilstand |
| GTF2H5general transcription factor IIH subunit 5 | Altid | I 2 tilstande |
| IREB2iron responsive element binding protein 2 | Altid | I 1 tilstand |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Altid | I 1 tilstand |
| KDM2Blysine demethylase 2B | Altid | I 1 tilstand |
| KDM6Blysine demethylase 6B | Altid | I 1 tilstand |
| KIF5Ckinesin family member 5C | Altid | I 1 tilstand |
| MBOAT7membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7 | Altid | I 1 tilstand |
| MED17mediator complex subunit 17 | Altid | I 1 tilstand |
Vis 351 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| MOCS3molybdenum cofactor synthesis 3 | Altid | I 1 tilstand |
| NFASCneurofascin | Altid | I 1 tilstand |
| NIPBLNIPBL cohesin loading factor | Altid | I 2 tilstande |
| OPA1OPA1 mitochondrial dynamin like GTPase | Altid | I 1 tilstand |
| PEX11Bperoxisomal biogenesis factor 11 beta | Altid | I 1 tilstand |
| PI4KAphosphatidylinositol 4-kinase alpha | Altid | I 1 tilstand |
| PLAAphospholipase A2 activating protein | Altid | I 1 tilstand |
| POLR1ARNA polymerase I subunit A | Altid | I 1 tilstand |
| PSAPprosaposin | Altid | I 1 tilstand |
| PTPN23protein tyrosine phosphatase non-receptor type 23 | Altid | I 1 tilstand |
| RNF13ring finger protein 13 | Altid | I 2 tilstande |
| RNU2-2RNA, U2 small nuclear 2 | Altid | I 1 tilstand |
| SCO2synthesis of cytochrome C oxidase 2 | Altid | I 1 tilstand |
| SEC31ASEC31 homolog A, COPII component | Altid | I 1 tilstand |
| SGSM3small G protein signaling modulator 3 | Altid | I 1 tilstand |
| SLC2A1solute carrier family 2 member 1 | Altid | I 3 tilstande |
| SLC6A3solute carrier family 6 member 3 | Altid | I 2 tilstande |
| SMAD4SMAD family member 4 | Altid | I 1 tilstand |
| SMC1Astructural maintenance of chromosomes 1A | Altid | I 2 tilstande |
| SOD1superoxide dismutase 1 | Altid | I 1 tilstand |
| SPG21SPG21 abhydrolase domain containing, maspardin | Altid | I 1 tilstand |
| SUPT7LSPT7 like, STAGA complex subunit gamma | Altid | I 1 tilstand |
| TMX2thioredoxin related transmembrane protein 2 | Altid | I 1 tilstand |
| TOR1Atorsin family 1 member A | Altid | I 3 tilstande |
| TSEN54tRNA splicing endonuclease subunit 54 | Altid | I 2 tilstande |
| VAC14VAC14 component of PIKFYVE complex | Altid | I 1 tilstand |
| VARS2valyl-tRNA synthetase 2, mitochondrial | Altid | I 1 tilstand |
| VPS53VPS53 subunit of GARP complex | Altid | I 1 tilstand |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Altid | I 3 tilstande |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Altid | I 2 tilstande |
| ADARadenosine deaminase RNA specific | Meget ofte (80–99 %) | I 2 tilstande |
| APPamyloid beta precursor protein | Meget ofte (80–99 %) | I 1 tilstand |
| ATP7AATPase copper transporting alpha | Meget ofte (80–99 %) | I 2 tilstande |
| BRD4bromodomain containing 4 | Meget ofte (80–99 %) | I 1 tilstand |
| CLCF1cardiotrophin like cytokine factor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| CRLF1cytokine receptor like factor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| CRYABcrystallin alpha B | Meget ofte (80–99 %) | I 1 tilstand |
| DHCR2424-dehydrocholesterol reductase | Meget ofte (80–99 %) | I 1 tilstand |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Meget ofte (80–99 %) | I 2 tilstande |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Meget ofte (80–99 %) | I 2 tilstande |
| ERCC5ERCC excision repair 5, endonuclease | Meget ofte (80–99 %) | I 1 tilstand |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Meget ofte (80–99 %) | I 2 tilstande |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Meget ofte (80–99 %) | I 2 tilstande |
| GLRA1glycine receptor alpha 1 | Meget ofte (80–99 %) | I 2 tilstande |
| GPT2glutamic--pyruvic transaminase 2 | Meget ofte (80–99 %) | I 1 tilstand |
| HDAC8histone deacetylase 8 | Meget ofte (80–99 %) | I 1 tilstand |
| HIKESHIheat shock protein nuclear import factor hikeshi | Meget ofte (80–99 %) | I 1 tilstand |
| HSPG2heparan sulfate proteoglycan 2 | Meget ofte (80–99 %) | I 1 tilstand |
| IFIH1interferon induced with helicase C domain 1 | Meget ofte (80–99 %) | I 2 tilstande |
| LSM11LSM11, U7 small nuclear RNA associated | Meget ofte (80–99 %) | I 1 tilstand |
| MAU2MAU2 sister chromatid cohesion factor | Meget ofte (80–99 %) | I 1 tilstand |
| MYO5Amyosin VA | Meget ofte (80–99 %) | I 2 tilstande |
| NFU1NFU1 iron-sulfur cluster scaffold | Meget ofte (80–99 %) | I 2 tilstande |
| NSD1nuclear receptor binding SET domain protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| OGDHoxoglutarate dehydrogenase | Meget ofte (80–99 %) | I 1 tilstand |
| POLR3ARNA polymerase III subunit A | Meget ofte (80–99 %) | I 2 tilstande |
| PSEN1presenilin 1 | Meget ofte (80–99 %) | I 1 tilstand |
| PSEN2presenilin 2 | Meget ofte (80–99 %) | I 1 tilstand |
| RAD21RAD21 cohesin complex component | Meget ofte (80–99 %) | I 1 tilstand |
| RBMXRNA binding motif protein X-linked | Meget ofte (80–99 %) | I 1 tilstand |
| RNASEH2Aribonuclease H2 subunit A | Meget ofte (80–99 %) | I 1 tilstand |
| RNASEH2Bribonuclease H2 subunit B | Meget ofte (80–99 %) | I 1 tilstand |
| RNASEH2Cribonuclease H2 subunit C | Meget ofte (80–99 %) | I 1 tilstand |
| RNU4ATACRNA, U4atac small nuclear | Meget ofte (80–99 %) | I 1 tilstand |
| RNU7-1RNA, U7 small nuclear 1 | Meget ofte (80–99 %) | I 2 tilstande |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Meget ofte (80–99 %) | I 3 tilstande |
| SHQ1SHQ1, H/ACA ribonucleoprotein assembly factor | Meget ofte (80–99 %) | I 1 tilstand |
| SLC18A2solute carrier family 18 member A2 | Meget ofte (80–99 %) | I 1 tilstand |
| SLC6A5solute carrier family 6 member 5 | Meget ofte (80–99 %) | I 2 tilstande |
| SMC3structural maintenance of chromosomes 3 | Meget ofte (80–99 %) | I 1 tilstand |
| SORL1sortilin related receptor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Meget ofte (80–99 %) | I 1 tilstand |
| TOE1target of EGR1, exonuclease | Meget ofte (80–99 %) | I 2 tilstande |
| TOMM40translocase of outer mitochondrial membrane 40 | Meget ofte (80–99 %) | I 1 tilstand |
| TREM2triggering receptor expressed on myeloid cells 2 | Meget ofte (80–99 %) | I 1 tilstand |
| TREX1three prime repair exonuclease 1 | Meget ofte (80–99 %) | I 1 tilstand |
| VAMP1vesicle associated membrane protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| ZNF526zinc finger protein 526 | Meget ofte (80–99 %) | I 1 tilstand |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Ofte (30–79 %) | I 1 tilstand |
| AHDC1AT-hook DNA binding motif containing 1 | Ofte (30–79 %) | I 1 tilstand |
| ALG11ALG11 alpha-1,2-mannosyltransferase | Ofte (30–79 %) | I 1 tilstand |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Ofte (30–79 %) | I 2 tilstande |
| APC2APC regulator of Wnt signaling pathway 2 | Ofte (30–79 %) | I 1 tilstand |
| ATMATM serine/threonine kinase | Ofte (30–79 %) | I 1 tilstand |
| AUTS2activator of transcription and developmental regulator AUTS2 | Ofte (30–79 %) | I 2 tilstande |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Ofte (30–79 %) | I 1 tilstand |
| BMPR1Abone morphogenetic protein receptor type 1A | Ofte (30–79 %) | I 1 tilstand |
| BRAT1BRCA1 associated ATM activator 1 | Ofte (30–79 %) | I 2 tilstande |
| BRCA2BRCA2 DNA repair associated | Ofte (30–79 %) | I 1 tilstand |
| C12orf57chromosome 12 open reading frame 57 | Ofte (30–79 %) | I 1 tilstand |
| CDC40cell division cycle 40 | Ofte (30–79 %) | I 1 tilstand |
| CHEK2checkpoint kinase 2 | Ofte (30–79 %) | I 1 tilstand |
| CITcitron rho-interacting serine/threonine kinase | Ofte (30–79 %) | I 1 tilstand |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| CRPPACDP-L-ribitol pyrophosphorylase A | Ofte (30–79 %) | I 1 tilstand |
| DKC1dyskerin pseudouridine synthase 1 | Ofte (30–79 %) | I 1 tilstand |
| DLATdihydrolipoamide S-acetyltransferase | Ofte (30–79 %) | I 1 tilstand |
| DTYMKdeoxythymidylate kinase | Ofte (30–79 %) | I 1 tilstand |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Ofte (30–79 %) | I 1 tilstand |
| EPCAMepithelial cell adhesion molecule | Ofte (30–79 %) | I 1 tilstand |
| ERLIN1ER lipid raft associated 1 | Ofte (30–79 %) | I 1 tilstand |
| EXOC8exocyst complex component 8 | Ofte (30–79 %) | I 1 tilstand |
| FGFR1fibroblast growth factor receptor 1 | Ofte (30–79 %) | I 1 tilstand |
| FKRPfukutin related protein | Ofte (30–79 %) | I 1 tilstand |
| FKTNfukutin | Ofte (30–79 %) | I 1 tilstand |
| FRMD4AFERM domain containing 4A | Ofte (30–79 %) | I 1 tilstand |
| FUSFUS RNA binding protein | Ofte (30–79 %) | I 1 tilstand |
| GAMTguanidinoacetate N-methyltransferase | Ofte (30–79 %) | I 1 tilstand |
| GBA1glucosylceramidase beta 1 | Ofte (30–79 %) | I 3 tilstande |
| GLRX5glutaredoxin 5 | Ofte (30–79 %) | I 1 tilstand |
| GMPPBGDP-mannose pyrophosphorylase B | Ofte (30–79 %) | I 2 tilstande |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Ofte (30–79 %) | I 1 tilstand |
| GRIA4glutamate ionotropic receptor AMPA type subunit 4 | Ofte (30–79 %) | I 1 tilstand |
| JAM2junctional adhesion molecule 2 | Ofte (30–79 %) | I 1 tilstand |
| KCNJ6potassium inwardly rectifying channel subfamily J member 6 | Ofte (30–79 %) | I 2 tilstande |
| KRASKRas proto-oncogene, GTPase | Ofte (30–79 %) | I 3 tilstande |
| KYNUkynureninase | Ofte (30–79 %) | I 1 tilstand |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| LINGO1leucine rich repeat and Ig domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| MLH1mutL homolog 1 | Ofte (30–79 %) | I 1 tilstand |
| MPDU1mannose-P-dolichol utilization defect 1 | Ofte (30–79 %) | I 2 tilstande |
| MSH2mutS homolog 2 | Ofte (30–79 %) | I 1 tilstand |
| MSH6mutS homolog 6 | Ofte (30–79 %) | I 1 tilstand |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Ofte (30–79 %) | I 2 tilstande |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Ofte (30–79 %) | I 1 tilstand |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Ofte (30–79 %) | I 1 tilstand |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Ofte (30–79 %) | I 1 tilstand |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Ofte (30–79 %) | I 1 tilstand |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Ofte (30–79 %) | I 1 tilstand |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Ofte (30–79 %) | I 1 tilstand |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Ofte (30–79 %) | I 1 tilstand |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Ofte (30–79 %) | I 1 tilstand |
| MTHFSmethenyltetrahydrofolate synthetase | Ofte (30–79 %) | I 1 tilstand |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Ofte (30–79 %) | I 1 tilstand |
| MUTYHmutY DNA glycosylase | Ofte (30–79 %) | I 1 tilstand |
| NAGSN-acetylglutamate synthase | Ofte (30–79 %) | I 1 tilstand |
| NARS1asparaginyl-tRNA synthetase 1 | Ofte (30–79 %) | I 2 tilstande |
| NCAPG2non-SMC condensin II complex subunit G2 | Ofte (30–79 %) | I 1 tilstand |
| NDE1nudE neurodevelopment protein 1 | Ofte (30–79 %) | I 1 tilstand |
| NDUFA8NADH:ubiquinone oxidoreductase subunit A8 | Ofte (30–79 %) | I 1 tilstand |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Ofte (30–79 %) | I 1 tilstand |
| NOTCH2NLCnotch 2 N-terminal like C | Ofte (30–79 %) | I 1 tilstand |
| NPATnuclear protein, coactivator of histone transcription | Ofte (30–79 %) | I 1 tilstand |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Ofte (30–79 %) | I 1 tilstand |
| NUP214nucleoporin 214 | Ofte (30–79 %) | I 1 tilstand |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Ofte (30–79 %) | I 1 tilstand |
| PARNpoly(A)-specific ribonuclease | Ofte (30–79 %) | I 1 tilstand |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Ofte (30–79 %) | I 1 tilstand |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Ofte (30–79 %) | I 1 tilstand |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| PLK4polo like kinase 4 | Ofte (30–79 %) | I 1 tilstand |
| PLPBPpyridoxal phosphate binding protein | Ofte (30–79 %) | I 1 tilstand |
| PMS1PMS1 homolog 1, mismatch repair system component | Ofte (30–79 %) | I 1 tilstand |
| PMS2PMS1 homolog 2, mismatch repair system component | Ofte (30–79 %) | I 1 tilstand |
| PNPOpyridoxamine 5'-phosphate oxidase | Ofte (30–79 %) | I 2 tilstande |
| POLD1DNA polymerase delta 1, catalytic subunit | Ofte (30–79 %) | I 1 tilstand |
| POLEDNA polymerase epsilon, catalytic subunit | Ofte (30–79 %) | I 1 tilstand |
| POLGDNA polymerase gamma, catalytic subunit | Ofte (30–79 %) | I 2 tilstande |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Ofte (30–79 %) | I 1 tilstand |
| POMT1protein O-mannosyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| POMT2protein O-mannosyltransferase 2 | Ofte (30–79 %) | I 1 tilstand |
| PPFIBP1PPFIB scaffold protein 1 | Ofte (30–79 %) | I 1 tilstand |
| PPIL1peptidylprolyl isomerase like 1 | Ofte (30–79 %) | I 1 tilstand |
| PRDM13PR/SET domain 13 | Ofte (30–79 %) | I 1 tilstand |
| PSAT1phosphoserine aminotransferase 1 | Ofte (30–79 %) | I 2 tilstande |
| RANBP2RAN binding protein 2 | Ofte (30–79 %) | I 2 tilstande |
| REEP1receptor accessory protein 1 | Ofte (30–79 %) | I 1 tilstand |
| RPS20ribosomal protein S20 | Ofte (30–79 %) | I 1 tilstand |
| RPS6KA3ribosomal protein S6 kinase A3 | Ofte (30–79 %) | I 1 tilstand |
| RTEL1regulator of telomere elongation helicase 1 | Ofte (30–79 %) | I 1 tilstand |
| SEMA4Asemaphorin 4A | Ofte (30–79 %) | I 1 tilstand |
| SIGMAR1sigma receptor chaperone 1 | Ofte (30–79 %) | I 1 tilstand |
| SIL1SIL1 nucleotide exchange factor | Ofte (30–79 %) | I 1 tilstand |
| SLC1A4solute carrier family 1 member 4 | Ofte (30–79 %) | I 1 tilstand |
| SLC25A46solute carrier family 25 member 46 | Ofte (30–79 %) | I 1 tilstand |
| SLC30A10solute carrier family 30 member 10 | Ofte (30–79 %) | I 1 tilstand |
| SLC6A8solute carrier family 6 member 8 | Ofte (30–79 %) | I 2 tilstande |
| SMPD4sphingomyelin phosphodiesterase 4 | Ofte (30–79 %) | I 1 tilstand |
| SORDsorbitol dehydrogenase | Ofte (30–79 %) | I 1 tilstand |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Ofte (30–79 %) | I 1 tilstand |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| STT3ASTT3 oligosaccharyltransferase complex catalytic subunit A | Ofte (30–79 %) | I 1 tilstand |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Ofte (30–79 %) | I 1 tilstand |
| TARDBPTAR DNA binding protein | Ofte (30–79 %) | I 1 tilstand |
| TERCtelomerase RNA component | Ofte (30–79 %) | I 1 tilstand |
| TERTtelomerase reverse transcriptase | Ofte (30–79 %) | I 1 tilstand |
| TGFBR2transforming growth factor beta receptor 2 | Ofte (30–79 %) | I 1 tilstand |
| TINF2TERF1 interacting nuclear factor 2 | Ofte (30–79 %) | I 2 tilstande |
| TM2D3TM2 domain containing 3 | Ofte (30–79 %) | I 1 tilstand |
| TRMT2BtRNA methyltransferase 2B | Ofte (30–79 %) | I 1 tilstand |
| TRMT5tRNA methyltransferase 5 | Ofte (30–79 %) | I 1 tilstand |
| TUBGCP4tubulin gamma complex component 4 | Ofte (30–79 %) | I 1 tilstand |
| TUBGCP6tubulin gamma complex component 6 | Ofte (30–79 %) | I 1 tilstand |
| UBQLN2ubiquilin 2 | Ofte (30–79 %) | I 1 tilstand |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| AARS1alanyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ACOX1acyl-CoA oxidase 1 | Nogle gange (5–29 %) | I 2 tilstande |
| ACTA1actin alpha 1, skeletal muscle | Nogle gange (5–29 %) | I 1 tilstand |
| AFG2AAAA ATPase AFG2A | Nogle gange (5–29 %) | I 1 tilstand |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Nogle gange (5–29 %) | I 1 tilstand |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Nogle gange (5–29 %) | I 2 tilstande |
| ARHGAP31Rho GTPase activating protein 31 | Nogle gange (5–29 %) | I 1 tilstand |
| ASXL3ASXL transcriptional regulator 3 | Nogle gange (5–29 %) | I 2 tilstande |
| CARS1cysteinyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CFAP20cilia and flagella associated protein 20 | Nogle gange (5–29 %) | I 1 tilstand |
| CHMP1Acharged multivesicular body protein 1A | Nogle gange (5–29 %) | I 1 tilstand |
| CLPBClpB family mitochondrial disaggregase | Nogle gange (5–29 %) | I 1 tilstand |
| CTNNA2catenin alpha 2 | Nogle gange (5–29 %) | I 1 tilstand |
| DBR1debranching RNA lariats 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DHCR77-dehydrocholesterol reductase | Nogle gange (5–29 %) | I 2 tilstande |
| DLL4delta like canonical Notch ligand 4 | Nogle gange (5–29 %) | I 1 tilstand |
| DOCK6dedicator of cytokinesis 6 | Nogle gange (5–29 %) | I 1 tilstand |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Nogle gange (5–29 %) | I 2 tilstande |
| DPYDdihydropyrimidine dehydrogenase | Nogle gange (5–29 %) | I 2 tilstande |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Nogle gange (5–29 %) | I 1 tilstand |
| EOGTEGF domain specific O-linked N-acetylglucosamine transferase | Nogle gange (5–29 %) | I 1 tilstand |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Nogle gange (5–29 %) | I 1 tilstand |
| EXTL3exostosin like glycosyltransferase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| FBXO22F-box protein 22 | Nogle gange (5–29 %) | I 1 tilstand |
| FBXW11F-box and WD repeat domain containing 11 | Nogle gange (5–29 %) | I 1 tilstand |
| GAD1glutamate decarboxylase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GNAI1G protein subunit alpha i1 | Nogle gange (5–29 %) | I 1 tilstand |
| GON7GON7 subunit of KEOPS complex | Nogle gange (5–29 %) | I 1 tilstand |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2E2general transcription factor IIE subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GTF3C3general transcription factor IIIC subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| H1-4H1.4 linker histone, cluster member | Nogle gange (5–29 %) | I 1 tilstand |
| HNRNPCheterogeneous nuclear ribonucleoprotein C | Nogle gange (5–29 %) | I 1 tilstand |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Nogle gange (5–29 %) | I 1 tilstand |
| HS2ST1heparan sulfate 2-O-sulfotransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| KARS1lysyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Nogle gange (5–29 %) | I 2 tilstande |
| KCNQ3potassium voltage-gated channel subfamily Q member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| KIF11kinesin family member 11 | Nogle gange (5–29 %) | I 1 tilstand |
| LAGE3L antigen family member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| LMNB1lamin B1 | Nogle gange (5–29 %) | I 1 tilstand |
| LYSTlysosomal trafficking regulator | Nogle gange (5–29 %) | I 1 tilstand |
| MIPEPmitochondrial intermediate peptidase | Nogle gange (5–29 %) | I 1 tilstand |
| MORC2MORC family CW-type zinc finger 2 | Nogle gange (5–29 %) | I 2 tilstande |
| MPLKIPM-phase specific PLK1 interacting protein | Nogle gange (5–29 %) | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Nogle gange (5–29 %) | I 2 tilstande |
| NALCNsodium leak channel, non-selective | Nogle gange (5–29 %) | I 1 tilstand |
| NDPnorrin cystine knot growth factor NDP | Nogle gange (5–29 %) | I 1 tilstand |
| NFIXnuclear factor I X | Nogle gange (5–29 %) | I 1 tilstand |
| NOP56NOP56 ribonucleoprotein | Nogle gange (5–29 %) | I 1 tilstand |
| NOTCH1notch receptor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NPHP3nephrocystin 3 | Nogle gange (5–29 %) | I 1 tilstand |
| NUP107nucleoporin 107 | Nogle gange (5–29 %) | I 1 tilstand |
| NUP133nucleoporin 133 | Nogle gange (5–29 %) | I 1 tilstand |
| NUP54nucleoporin 54 | Nogle gange (5–29 %) | I 1 tilstand |
| NUP62nucleoporin 62 | Nogle gange (5–29 %) | I 1 tilstand |
| OSGEPO-sialoglycoprotein endopeptidase | Nogle gange (5–29 %) | I 1 tilstand |
| OTUD6BOTU deubiquitinase 6B | Nogle gange (5–29 %) | I 2 tilstande |
| PCBD1pterin-4 alpha-carbinolamine dehydratase 1 | Nogle gange (5–29 %) | I 2 tilstande |
| PEX16peroxisomal biogenesis factor 16 | Nogle gange (5–29 %) | I 1 tilstand |
| PHGDHphosphoglycerate dehydrogenase | Nogle gange (5–29 %) | I 2 tilstande |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Nogle gange (5–29 %) | I 1 tilstand |
| PLCB1phospholipase C beta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PNPpurine nucleoside phosphorylase | Nogle gange (5–29 %) | I 1 tilstand |
| PPFIA3PPFI scaffold protein A3 | Nogle gange (5–29 %) | I 1 tilstand |
| PRORPprotein only RNase P catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| PRRT2proline rich transmembrane protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PSPHphosphoserine phosphatase | Nogle gange (5–29 %) | I 2 tilstande |
| PTS6-pyruvoyltetrahydropterin synthase | Nogle gange (5–29 %) | I 2 tilstande |
| RAB27ARAB27A, member RAS oncogene family | Nogle gange (5–29 %) | I 1 tilstand |
| RBPJrecombination signal binding protein for immunoglobulin kappa J region | Nogle gange (5–29 %) | I 1 tilstand |
| RNF113Aring finger protein 113A | Nogle gange (5–29 %) | I 1 tilstand |
| RTTNrotatin | Nogle gange (5–29 %) | I 1 tilstand |
| SATB2SATB homeobox 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SCAF4SR-related CTD associated factor 4 | Nogle gange (5–29 %) | I 1 tilstand |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Nogle gange (5–29 %) | I 2 tilstande |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC12A5solute carrier family 12 member 5 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC25A22solute carrier family 25 member 22 | Nogle gange (5–29 %) | I 1 tilstand |
| SLF2SMC5/6 complex localization factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SPTBN1spectrin beta, non-erythrocytic 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Nogle gange (5–29 %) | I 1 tilstand |
| TANGO2transport and golgi organization 2 homolog | Nogle gange (5–29 %) | I 1 tilstand |
| TARS1threonyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TBC1D24TBC1 domain family member 24 | Nogle gange (5–29 %) | I 1 tilstand |
| TBL1XR1TBL1X/Y related 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TELO2telomere maintenance 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TIMM50translocase of inner mitochondrial membrane 50 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM106Btransmembrane protein 106B | Nogle gange (5–29 %) | I 1 tilstand |
| TNPO2transportin 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TP53tumor protein p53 | Nogle gange (5–29 %) | I 1 tilstand |
| TP53RKTP53 regulating kinase | Nogle gange (5–29 %) | I 1 tilstand |
| TPM2tropomyosin 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TPRKBTP53RK binding protein | Nogle gange (5–29 %) | I 1 tilstand |
| TRAF7TNF receptor associated factor 7 | Nogle gange (5–29 %) | I 1 tilstand |
| TTPAalpha tocopherol transfer protein | Nogle gange (5–29 %) | I 1 tilstand |
| UNC13Aunc-13 homolog A | Nogle gange (5–29 %) | I 1 tilstand |
| VPS13Avacuolar protein sorting 13 homolog A | Nogle gange (5–29 %) | I 1 tilstand |
| WDR62WD repeat domain 62 | Nogle gange (5–29 %) | I 1 tilstand |
| WDR73WD repeat domain 73 | Nogle gange (5–29 %) | I 1 tilstand |
| WLSWnt ligand secretion mediator | Nogle gange (5–29 %) | I 1 tilstand |
| YRDCyrdC N6-threonylcarbamoyltransferase domain containing | Nogle gange (5–29 %) | I 1 tilstand |
| ZNF292zinc finger protein 292 | Nogle gange (5–29 %) | I 1 tilstand |
| ZSWIM6zinc finger SWIM-type containing 6 | Nogle gange (5–29 %) | I 1 tilstand |
| ACADSacyl-CoA dehydrogenase short chain | Sjældent (1–4%) | I 1 tilstand |
| ADNPactivity dependent neuroprotector homeobox | Sjældent (1–4%) | I 1 tilstand |
| CYB5Acytochrome b5 type A | Sjældent (1–4%) | I 1 tilstand |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Sjældent (1–4%) | I 1 tilstand |
| GLB1galactosidase beta 1 | Sjældent (1–4%) | I 1 tilstand |
| POLG2DNA polymerase gamma 2, accessory subunit | Sjældent (1–4%) | I 1 tilstand |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Sjældent (1–4%) | I 1 tilstand |
| SETBP1SET binding protein 1 | Sjældent (1–4%) | I 2 tilstande |
| SLC25A4solute carrier family 25 member 4 | Sjældent (1–4%) | I 1 tilstand |
| TWNKtwinkle mtDNA helicase | Sjældent (1–4%) | I 1 tilstand |
| BCKDHAbranched chain keto acid dehydrogenase E1 subunit alpha | Ikke registreret | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Ikke registreret | I 1 tilstand |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Ikke registreret | I 1 tilstand |
| CASKcalcium/calmodulin dependent serine protein kinase | Ikke registreret | I 1 tilstand |
| DNAJC12DnaJ heat shock protein family (Hsp40) member C12 | Ikke registreret | I 1 tilstand |
| EBPEBP cholestenol delta-isomerase | Ikke registreret | I 1 tilstand |
| EIF2AK3eukaryotic translation initiation factor 2 alpha kinase 3 | Ikke registreret | I 1 tilstand |
| GALCgalactosylceramidase | Ikke registreret | I 1 tilstand |
| GM2Aganglioside GM2 activator | Ikke registreret | I 1 tilstand |
| HEPACAMhepatic and glial cell adhesion molecule | Ikke registreret | I 1 tilstand |
| HEXAhexosaminidase subunit alpha | Ikke registreret | I 1 tilstand |
| HLCSholocarboxylase synthetase | Ikke registreret | I 1 tilstand |
| HTRA2HtrA serine peptidase 2 | Ikke registreret | I 1 tilstand |
| HTThuntingtin | Ikke registreret | I 1 tilstand |
| ITM2Bintegral membrane protein 2B | Ikke registreret | I 1 tilstand |
| KCNA4potassium voltage-gated channel subfamily A member 4 | Ikke registreret | I 1 tilstand |
| MAP2K1mitogen-activated protein kinase kinase 1 | Ikke registreret | I 1 tilstand |
| MAP2K2mitogen-activated protein kinase kinase 2 | Ikke registreret | I 1 tilstand |
| MDH1malate dehydrogenase 1 | Ikke registreret | I 1 tilstand |
| MFN2mitofusin 2 | Ikke registreret | I 1 tilstand |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Ikke registreret | I 1 tilstand |
| MOCS2molybdenum cofactor synthesis 2 | Ikke registreret | I 1 tilstand |
| PITX3paired like homeodomain 3 | Ikke registreret | I 1 tilstand |
| PLA2G6phospholipase A2 group VI | Ikke registreret | I 1 tilstand |
| PRF1perforin 1 | Ikke registreret | I 1 tilstand |
| QDPRquinoid dihydropteridine reductase | Ikke registreret | I 1 tilstand |
| SLC12A2solute carrier family 12 member 2 | Ikke registreret | I 1 tilstand |
| SLC19A3solute carrier family 19 member 3 | Ikke registreret | I 1 tilstand |
| SLC6A19solute carrier family 6 member 19 | Ikke registreret | I 1 tilstand |
| SLC6A9solute carrier family 6 member 9 | Ikke registreret | I 1 tilstand |
| SOX10SRY-box transcription factor 10 | Ikke registreret | I 1 tilstand |
| SPOPspeckle type BTB/POZ protein | Ikke registreret | I 1 tilstand |
| SUOXsulfite oxidase | Ikke registreret | I 1 tilstand |
| UNC80unc-80 subunit of NALCN channel complex | Ikke registreret | I 1 tilstand |
| ZNF335zinc finger protein 335 | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
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Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
Én test. Svar for hele livet.
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