Hvem vi hjelperVår vitenskapProdukterResultater
Logg innSpørKom i gangfra 449 $
Egenskap
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.
Sammendrag
- Også kalt
- Hypertonicity, Increased muscle tone
- Kroppssystem
- Abnormality of the musculoskeletal system
Spasticity and rigidity of musclesHP:0001276
Hvem vi hjelperVår vitenskapProdukterResultater
Logg innSpørKom i gangfra 449 $
Read the genes linked to Spasticity and rigidity of muscles, and the rest of your genome, with one test.
Fra 449 $Gratis frakt · Resultater på 6–8 uker
Få mitt Genome Test391 gener knyttet til Spasticity and rigidity of muscles
Endringer i disse genene forårsaker sjeldne tilstander der Spasticity and rigidity of muscles forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ADGRG1adhesion G protein-coupled receptor G1 | Alltid | I 1 tilstand |
| AMPD2adenosine monophosphate deaminase 2 | Alltid | I 3 tilstander |
| AP4B1adaptor related protein complex 4 subunit beta 1 | Alltid | I 1 tilstand |
| AP4S1adaptor related protein complex 4 subunit sigma 1 | Alltid | I 1 tilstand |
| ARHGEF9Cdc42 guanine nucleotide exchange factor 9 | Alltid | I 2 tilstander |
| ARL13BARF like GTPase 13B | Alltid | I 1 tilstand |
| ARXaristaless related homeobox | Alltid | I 2 tilstander |
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Alltid | I 1 tilstand |
| ATAD1ATPase family AAA domain containing 1 | Alltid | I 2 tilstander |
| ATP13A2ATPase cation transporting 13A2 | Alltid | I 3 tilstander |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Alltid | I 1 tilstand |
| CDK19cyclin dependent kinase 19 | Alltid | I 1 tilstand |
| CHKAcholine kinase alpha | Alltid | I 1 tilstand |
| COQ4coenzyme Q4 | Alltid | I 1 tilstand |
| COQ9coenzyme Q9 | Alltid | I 1 tilstand |
| COX18cytochrome c oxidase assembly factor COX18 | Alltid | I 1 tilstand |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Alltid | I 1 tilstand |
| CTCFCCCTC-binding factor | Alltid | I 1 tilstand |
| CYB5R3cytochrome b5 reductase 3 | Alltid | I 2 tilstander |
| DNM1Ldynamin 1L | Alltid | I 1 tilstand |
| EIF4A2eukaryotic translation initiation factor 4A2 | Alltid | I 1 tilstand |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Alltid | I 2 tilstander |
| FDXRferredoxin reductase | Alltid | I 2 tilstander |
| FEM1Bfem-1 homolog B | Alltid | I 1 tilstand |
| FTOFTO alpha-ketoglutarate dependent dioxygenase | Alltid | I 1 tilstand |
| GCSHglycine cleavage system protein H | Alltid | I 1 tilstand |
| GFM1G elongation factor mitochondrial 1 | Alltid | I 1 tilstand |
| GLI2GLI family zinc finger 2 | Alltid | I 1 tilstand |
| GLRBglycine receptor beta | Alltid | I 2 tilstander |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Alltid | I 1 tilstand |
| GPHNgephyrin | Alltid | I 3 tilstander |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Alltid | I 1 tilstand |
| GTF2H5general transcription factor IIH subunit 5 | Alltid | I 2 tilstander |
| IREB2iron responsive element binding protein 2 | Alltid | I 1 tilstand |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Alltid | I 1 tilstand |
| KDM2Blysine demethylase 2B | Alltid | I 1 tilstand |
| KDM6Blysine demethylase 6B | Alltid | I 1 tilstand |
| KIF5Ckinesin family member 5C | Alltid | I 1 tilstand |
| MBOAT7membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7 | Alltid | I 1 tilstand |
| MED17mediator complex subunit 17 | Alltid | I 1 tilstand |
Vis 351 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| MOCS3molybdenum cofactor synthesis 3 | Alltid | I 1 tilstand |
| NFASCneurofascin | Alltid | I 1 tilstand |
| NIPBLNIPBL cohesin loading factor | Alltid | I 2 tilstander |
| OPA1OPA1 mitochondrial dynamin like GTPase | Alltid | I 1 tilstand |
| PEX11Bperoxisomal biogenesis factor 11 beta | Alltid | I 1 tilstand |
| PI4KAphosphatidylinositol 4-kinase alpha | Alltid | I 1 tilstand |
| PLAAphospholipase A2 activating protein | Alltid | I 1 tilstand |
| POLR1ARNA polymerase I subunit A | Alltid | I 1 tilstand |
| PSAPprosaposin | Alltid | I 1 tilstand |
| PTPN23protein tyrosine phosphatase non-receptor type 23 | Alltid | I 1 tilstand |
| RNF13ring finger protein 13 | Alltid | I 2 tilstander |
| RNU2-2RNA, U2 small nuclear 2 | Alltid | I 1 tilstand |
| SCO2synthesis of cytochrome C oxidase 2 | Alltid | I 1 tilstand |
| SEC31ASEC31 homolog A, COPII component | Alltid | I 1 tilstand |
| SGSM3small G protein signaling modulator 3 | Alltid | I 1 tilstand |
| SLC2A1solute carrier family 2 member 1 | Alltid | I 3 tilstander |
| SLC6A3solute carrier family 6 member 3 | Alltid | I 2 tilstander |
| SMAD4SMAD family member 4 | Alltid | I 1 tilstand |
| SMC1Astructural maintenance of chromosomes 1A | Alltid | I 2 tilstander |
| SOD1superoxide dismutase 1 | Alltid | I 1 tilstand |
| SPG21SPG21 abhydrolase domain containing, maspardin | Alltid | I 1 tilstand |
| SUPT7LSPT7 like, STAGA complex subunit gamma | Alltid | I 1 tilstand |
| TMX2thioredoxin related transmembrane protein 2 | Alltid | I 1 tilstand |
| TOR1Atorsin family 1 member A | Alltid | I 3 tilstander |
| TSEN54tRNA splicing endonuclease subunit 54 | Alltid | I 2 tilstander |
| VAC14VAC14 component of PIKFYVE complex | Alltid | I 1 tilstand |
| VARS2valyl-tRNA synthetase 2, mitochondrial | Alltid | I 1 tilstand |
| VPS53VPS53 subunit of GARP complex | Alltid | I 1 tilstand |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Alltid | I 3 tilstander |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Alltid | I 2 tilstander |
| ADARadenosine deaminase RNA specific | Svært ofte (80–99 %) | I 2 tilstander |
| APPamyloid beta precursor protein | Svært ofte (80–99 %) | I 1 tilstand |
| ATP7AATPase copper transporting alpha | Svært ofte (80–99 %) | I 2 tilstander |
| BRD4bromodomain containing 4 | Svært ofte (80–99 %) | I 1 tilstand |
| CLCF1cardiotrophin like cytokine factor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| CRLF1cytokine receptor like factor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| CRYABcrystallin alpha B | Svært ofte (80–99 %) | I 1 tilstand |
| DHCR2424-dehydrocholesterol reductase | Svært ofte (80–99 %) | I 1 tilstand |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Svært ofte (80–99 %) | I 2 tilstander |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Svært ofte (80–99 %) | I 2 tilstander |
| ERCC5ERCC excision repair 5, endonuclease | Svært ofte (80–99 %) | I 1 tilstand |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Svært ofte (80–99 %) | I 2 tilstander |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Svært ofte (80–99 %) | I 2 tilstander |
| GLRA1glycine receptor alpha 1 | Svært ofte (80–99 %) | I 2 tilstander |
| GPT2glutamic--pyruvic transaminase 2 | Svært ofte (80–99 %) | I 1 tilstand |
| HDAC8histone deacetylase 8 | Svært ofte (80–99 %) | I 1 tilstand |
| HIKESHIheat shock protein nuclear import factor hikeshi | Svært ofte (80–99 %) | I 1 tilstand |
| HSPG2heparan sulfate proteoglycan 2 | Svært ofte (80–99 %) | I 1 tilstand |
| IFIH1interferon induced with helicase C domain 1 | Svært ofte (80–99 %) | I 2 tilstander |
| LSM11LSM11, U7 small nuclear RNA associated | Svært ofte (80–99 %) | I 1 tilstand |
| MAU2MAU2 sister chromatid cohesion factor | Svært ofte (80–99 %) | I 1 tilstand |
| MYO5Amyosin VA | Svært ofte (80–99 %) | I 2 tilstander |
| NFU1NFU1 iron-sulfur cluster scaffold | Svært ofte (80–99 %) | I 2 tilstander |
| NSD1nuclear receptor binding SET domain protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| OGDHoxoglutarate dehydrogenase | Svært ofte (80–99 %) | I 1 tilstand |
| POLR3ARNA polymerase III subunit A | Svært ofte (80–99 %) | I 2 tilstander |
| PSEN1presenilin 1 | Svært ofte (80–99 %) | I 1 tilstand |
| PSEN2presenilin 2 | Svært ofte (80–99 %) | I 1 tilstand |
| RAD21RAD21 cohesin complex component | Svært ofte (80–99 %) | I 1 tilstand |
| RBMXRNA binding motif protein X-linked | Svært ofte (80–99 %) | I 1 tilstand |
| RNASEH2Aribonuclease H2 subunit A | Svært ofte (80–99 %) | I 1 tilstand |
| RNASEH2Bribonuclease H2 subunit B | Svært ofte (80–99 %) | I 1 tilstand |
| RNASEH2Cribonuclease H2 subunit C | Svært ofte (80–99 %) | I 1 tilstand |
| RNU4ATACRNA, U4atac small nuclear | Svært ofte (80–99 %) | I 1 tilstand |
| RNU7-1RNA, U7 small nuclear 1 | Svært ofte (80–99 %) | I 2 tilstander |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Svært ofte (80–99 %) | I 3 tilstander |
| SHQ1SHQ1, H/ACA ribonucleoprotein assembly factor | Svært ofte (80–99 %) | I 1 tilstand |
| SLC18A2solute carrier family 18 member A2 | Svært ofte (80–99 %) | I 1 tilstand |
| SLC6A5solute carrier family 6 member 5 | Svært ofte (80–99 %) | I 2 tilstander |
| SMC3structural maintenance of chromosomes 3 | Svært ofte (80–99 %) | I 1 tilstand |
| SORL1sortilin related receptor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Svært ofte (80–99 %) | I 1 tilstand |
| TOE1target of EGR1, exonuclease | Svært ofte (80–99 %) | I 2 tilstander |
| TOMM40translocase of outer mitochondrial membrane 40 | Svært ofte (80–99 %) | I 1 tilstand |
| TREM2triggering receptor expressed on myeloid cells 2 | Svært ofte (80–99 %) | I 1 tilstand |
| TREX1three prime repair exonuclease 1 | Svært ofte (80–99 %) | I 1 tilstand |
| VAMP1vesicle associated membrane protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| ZNF526zinc finger protein 526 | Svært 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| GLRX5glutaredoxin 5 | Ofte (30–79 %) | I 1 tilstand |
| GMPPBGDP-mannose pyrophosphorylase B | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| KRASKRas proto-oncogene, GTPase | Ofte (30–79 %) | I 3 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| RANBP2RAN binding protein 2 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 | Noen ganger (5–29 %) | I 1 tilstand |
| ACOX1acyl-CoA oxidase 1 | Noen ganger (5–29 %) | I 2 tilstander |
| ACTA1actin alpha 1, skeletal muscle | Noen ganger (5–29 %) | I 1 tilstand |
| AFG2AAAA ATPase AFG2A | Noen ganger (5–29 %) | I 1 tilstand |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Noen ganger (5–29 %) | I 1 tilstand |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Noen ganger (5–29 %) | I 2 tilstander |
| ARHGAP31Rho GTPase activating protein 31 | Noen ganger (5–29 %) | I 1 tilstand |
| ASXL3ASXL transcriptional regulator 3 | Noen ganger (5–29 %) | I 2 tilstander |
| CARS1cysteinyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CFAP20cilia and flagella associated protein 20 | Noen ganger (5–29 %) | I 1 tilstand |
| CHMP1Acharged multivesicular body protein 1A | Noen ganger (5–29 %) | I 1 tilstand |
| CLPBClpB family mitochondrial disaggregase | Noen ganger (5–29 %) | I 1 tilstand |
| CTNNA2catenin alpha 2 | Noen ganger (5–29 %) | I 1 tilstand |
| DBR1debranching RNA lariats 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DHCR77-dehydrocholesterol reductase | Noen ganger (5–29 %) | I 2 tilstander |
| DLL4delta like canonical Notch ligand 4 | Noen ganger (5–29 %) | I 1 tilstand |
| DOCK6dedicator of cytokinesis 6 | Noen ganger (5–29 %) | I 1 tilstand |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Noen ganger (5–29 %) | I 2 tilstander |
| DPYDdihydropyrimidine dehydrogenase | Noen ganger (5–29 %) | I 2 tilstander |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Noen ganger (5–29 %) | I 1 tilstand |
| EOGTEGF domain specific O-linked N-acetylglucosamine transferase | Noen ganger (5–29 %) | I 1 tilstand |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Noen ganger (5–29 %) | I 1 tilstand |
| EXTL3exostosin like glycosyltransferase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| FBXO22F-box protein 22 | Noen ganger (5–29 %) | I 1 tilstand |
| FBXW11F-box and WD repeat domain containing 11 | Noen ganger (5–29 %) | I 1 tilstand |
| GAD1glutamate decarboxylase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GNAI1G protein subunit alpha i1 | Noen ganger (5–29 %) | I 1 tilstand |
| GON7GON7 subunit of KEOPS complex | Noen ganger (5–29 %) | I 1 tilstand |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2E2general transcription factor IIE subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GTF3C3general transcription factor IIIC subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| H1-4H1.4 linker histone, cluster member | Noen ganger (5–29 %) | I 1 tilstand |
| HNRNPCheterogeneous nuclear ribonucleoprotein C | Noen ganger (5–29 %) | I 1 tilstand |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Noen ganger (5–29 %) | I 1 tilstand |
| HS2ST1heparan sulfate 2-O-sulfotransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KARS1lysyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Noen ganger (5–29 %) | I 2 tilstander |
| KCNQ3potassium voltage-gated channel subfamily Q member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KIF11kinesin family member 11 | Noen ganger (5–29 %) | I 1 tilstand |
| LAGE3L antigen family member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| LMNB1lamin B1 | Noen ganger (5–29 %) | I 1 tilstand |
| LYSTlysosomal trafficking regulator | Noen ganger (5–29 %) | I 1 tilstand |
| MIPEPmitochondrial intermediate peptidase | Noen ganger (5–29 %) | I 1 tilstand |
| MORC2MORC family CW-type zinc finger 2 | Noen ganger (5–29 %) | I 2 tilstander |
| MPLKIPM-phase specific PLK1 interacting protein | Noen ganger (5–29 %) | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Noen ganger (5–29 %) | I 2 tilstander |
| NALCNsodium leak channel, non-selective | Noen ganger (5–29 %) | I 1 tilstand |
| NDPnorrin cystine knot growth factor NDP | Noen ganger (5–29 %) | I 1 tilstand |
| NFIXnuclear factor I X | Noen ganger (5–29 %) | I 1 tilstand |
| NOP56NOP56 ribonucleoprotein | Noen ganger (5–29 %) | I 1 tilstand |
| NOTCH1notch receptor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NPHP3nephrocystin 3 | Noen ganger (5–29 %) | I 1 tilstand |
| NUP107nucleoporin 107 | Noen ganger (5–29 %) | I 1 tilstand |
| NUP133nucleoporin 133 | Noen ganger (5–29 %) | I 1 tilstand |
| NUP54nucleoporin 54 | Noen ganger (5–29 %) | I 1 tilstand |
| NUP62nucleoporin 62 | Noen ganger (5–29 %) | I 1 tilstand |
| OSGEPO-sialoglycoprotein endopeptidase | Noen ganger (5–29 %) | I 1 tilstand |
| OTUD6BOTU deubiquitinase 6B | Noen ganger (5–29 %) | I 2 tilstander |
| PCBD1pterin-4 alpha-carbinolamine dehydratase 1 | Noen ganger (5–29 %) | I 2 tilstander |
| PEX16peroxisomal biogenesis factor 16 | Noen ganger (5–29 %) | I 1 tilstand |
| PHGDHphosphoglycerate dehydrogenase | Noen ganger (5–29 %) | I 2 tilstander |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Noen ganger (5–29 %) | I 1 tilstand |
| PLCB1phospholipase C beta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PNPpurine nucleoside phosphorylase | Noen ganger (5–29 %) | I 1 tilstand |
| PPFIA3PPFI scaffold protein A3 | Noen ganger (5–29 %) | I 1 tilstand |
| PRORPprotein only RNase P catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| PRRT2proline rich transmembrane protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PSPHphosphoserine phosphatase | Noen ganger (5–29 %) | I 2 tilstander |
| PTS6-pyruvoyltetrahydropterin synthase | Noen ganger (5–29 %) | I 2 tilstander |
| RAB27ARAB27A, member RAS oncogene family | Noen ganger (5–29 %) | I 1 tilstand |
| RBPJrecombination signal binding protein for immunoglobulin kappa J region | Noen ganger (5–29 %) | I 1 tilstand |
| RNF113Aring finger protein 113A | Noen ganger (5–29 %) | I 1 tilstand |
| RTTNrotatin | Noen ganger (5–29 %) | I 1 tilstand |
| SATB2SATB homeobox 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SCAF4SR-related CTD associated factor 4 | Noen ganger (5–29 %) | I 1 tilstand |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Noen ganger (5–29 %) | I 2 tilstander |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC12A5solute carrier family 12 member 5 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC25A22solute carrier family 25 member 22 | Noen ganger (5–29 %) | I 1 tilstand |
| SLF2SMC5/6 complex localization factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SPTBN1spectrin beta, non-erythrocytic 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Noen ganger (5–29 %) | I 1 tilstand |
| TANGO2transport and golgi organization 2 homolog | Noen ganger (5–29 %) | I 1 tilstand |
| TARS1threonyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TBC1D24TBC1 domain family member 24 | Noen ganger (5–29 %) | I 1 tilstand |
| TBL1XR1TBL1X/Y related 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TELO2telomere maintenance 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TIMM50translocase of inner mitochondrial membrane 50 | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM106Btransmembrane protein 106B | Noen ganger (5–29 %) | I 1 tilstand |
| TNPO2transportin 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TP53tumor protein p53 | Noen ganger (5–29 %) | I 1 tilstand |
| TP53RKTP53 regulating kinase | Noen ganger (5–29 %) | I 1 tilstand |
| TPM2tropomyosin 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TPRKBTP53RK binding protein | Noen ganger (5–29 %) | I 1 tilstand |
| TRAF7TNF receptor associated factor 7 | Noen ganger (5–29 %) | I 1 tilstand |
| TTPAalpha tocopherol transfer protein | Noen ganger (5–29 %) | I 1 tilstand |
| UNC13Aunc-13 homolog A | Noen ganger (5–29 %) | I 1 tilstand |
| VPS13Avacuolar protein sorting 13 homolog A | Noen ganger (5–29 %) | I 1 tilstand |
| WDR62WD repeat domain 62 | Noen ganger (5–29 %) | I 1 tilstand |
| WDR73WD repeat domain 73 | Noen ganger (5–29 %) | I 1 tilstand |
| WLSWnt ligand secretion mediator | Noen ganger (5–29 %) | I 1 tilstand |
| YRDCyrdC N6-threonylcarbamoyltransferase domain containing | Noen ganger (5–29 %) | I 1 tilstand |
| ZNF292zinc finger protein 292 | Noen ganger (5–29 %) | I 1 tilstand |
| ZSWIM6zinc finger SWIM-type containing 6 | Noen ganger (5–29 %) | I 1 tilstand |
| ACADSacyl-CoA dehydrogenase short chain | Sjelden (1–4%) | I 1 tilstand |
| ADNPactivity dependent neuroprotector homeobox | Sjelden (1–4%) | I 1 tilstand |
| CYB5Acytochrome b5 type A | Sjelden (1–4%) | I 1 tilstand |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Sjelden (1–4%) | I 1 tilstand |
| GLB1galactosidase beta 1 | Sjelden (1–4%) | I 1 tilstand |
| POLG2DNA polymerase gamma 2, accessory subunit | Sjelden (1–4%) | I 1 tilstand |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Sjelden (1–4%) | I 1 tilstand |
| SETBP1SET binding protein 1 | Sjelden (1–4%) | I 2 tilstander |
| SLC25A4solute carrier family 25 member 4 | Sjelden (1–4%) | I 1 tilstand |
| TWNKtwinkle mtDNA helicase | Sjelden (1–4%) | I 1 tilstand |
| BCKDHAbranched chain keto acid dehydrogenase E1 subunit alpha | Ikke registrert | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Ikke registrert | I 1 tilstand |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Ikke registrert | I 1 tilstand |
| CASKcalcium/calmodulin dependent serine protein kinase | Ikke registrert | I 1 tilstand |
| DNAJC12DnaJ heat shock protein family (Hsp40) member C12 | Ikke registrert | I 1 tilstand |
| EBPEBP cholestenol delta-isomerase | Ikke registrert | I 1 tilstand |
| EIF2AK3eukaryotic translation initiation factor 2 alpha kinase 3 | Ikke registrert | I 1 tilstand |
| GALCgalactosylceramidase | Ikke registrert | I 1 tilstand |
| GM2Aganglioside GM2 activator | Ikke registrert | I 1 tilstand |
| HEPACAMhepatic and glial cell adhesion molecule | Ikke registrert | I 1 tilstand |
| HEXAhexosaminidase subunit alpha | Ikke registrert | I 1 tilstand |
| HLCSholocarboxylase synthetase | Ikke registrert | I 1 tilstand |
| HTRA2HtrA serine peptidase 2 | Ikke registrert | I 1 tilstand |
| HTThuntingtin | Ikke registrert | I 1 tilstand |
| ITM2Bintegral membrane protein 2B | Ikke registrert | I 1 tilstand |
| KCNA4potassium voltage-gated channel subfamily A member 4 | Ikke registrert | I 1 tilstand |
| MAP2K1mitogen-activated protein kinase kinase 1 | Ikke registrert | I 1 tilstand |
| MAP2K2mitogen-activated protein kinase kinase 2 | Ikke registrert | I 1 tilstand |
| MDH1malate dehydrogenase 1 | Ikke registrert | I 1 tilstand |
| MFN2mitofusin 2 | Ikke registrert | I 1 tilstand |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Ikke registrert | I 1 tilstand |
| MOCS2molybdenum cofactor synthesis 2 | Ikke registrert | I 1 tilstand |
| PITX3paired like homeodomain 3 | Ikke registrert | I 1 tilstand |
| PLA2G6phospholipase A2 group VI | Ikke registrert | I 1 tilstand |
| PRF1perforin 1 | Ikke registrert | I 1 tilstand |
| QDPRquinoid dihydropteridine reductase | Ikke registrert | I 1 tilstand |
| SLC12A2solute carrier family 12 member 2 | Ikke registrert | I 1 tilstand |
| SLC19A3solute carrier family 19 member 3 | Ikke registrert | I 1 tilstand |
| SLC6A19solute carrier family 6 member 19 | Ikke registrert | I 1 tilstand |
| SLC6A9solute carrier family 6 member 9 | Ikke registrert | I 1 tilstand |
| SOX10SRY-box transcription factor 10 | Ikke registrert | I 1 tilstand |
| SPOPspeckle type BTB/POZ protein | Ikke registrert | I 1 tilstand |
| SUOXsulfite oxidase | Ikke registrert | I 1 tilstand |
| UNC80unc-80 subunit of NALCN channel complex | Ikke registrert | I 1 tilstand |
| ZNF335zinc finger protein 335 | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Smalere egenskaper
Bredere egenskaper
Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.16-c6eea6bf.
Hvem vi hjelperVår vitenskapProdukterResultater
Logg innSpørKom i gangfra 449 $
Én test. En livstid med svar.
Fra 449 $Gratis frakt · Resultater på 6–8 uker