Kenmerk
Spasticity and rigidity of muscles
Klinische naam: Hypertonia
A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.
Samenvatting
- Ook bekend als
- Hypertonicity, Increased muscle tone
- Lichaamssysteem
- Abnormality of the musculoskeletal system
ReferentiegenoomGRCh38hg38
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Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Spasticity and rigidity of muscles voorkomt. De meeste mensen met dit kenmerk hebben geen van die aandoeningen, en een gen op deze lijst zegt niets over het eigen genoom van iemand.
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| ADGRG1adhesion G protein-coupled receptor G1 | Altijd | In 1 aandoening |
| AMPD2adenosine monophosphate deaminase 2 | Altijd | In 3 aandoeningen |
| AP4B1adaptor related protein complex 4 subunit beta 1 | Altijd | In 1 aandoening |
| AP4S1adaptor related protein complex 4 subunit sigma 1 | Altijd | In 1 aandoening |
| ARHGEF9Cdc42 guanine nucleotide exchange factor 9 | Altijd | In 2 aandoeningen |
| ARL13BARF like GTPase 13B | Altijd | In 1 aandoening |
| ARXaristaless related homeobox | Altijd | In 2 aandoeningen |
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Altijd | In 1 aandoening |
| ATAD1ATPase family AAA domain containing 1 | Altijd | In 2 aandoeningen |
| ATP13A2ATPase cation transporting 13A2 | Altijd | In 3 aandoeningen |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Altijd | In 1 aandoening |
| CDK19cyclin dependent kinase 19 | Altijd | In 1 aandoening |
| CHKAcholine kinase alpha | Altijd | In 1 aandoening |
| COQ4coenzyme Q4 | Altijd | In 1 aandoening |
| COQ9coenzyme Q9 | Altijd | In 1 aandoening |
| COX18cytochrome c oxidase assembly factor COX18 | Altijd | In 1 aandoening |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Altijd | In 1 aandoening |
| CTCFCCCTC-binding factor | Altijd | In 1 aandoening |
| CYB5R3cytochrome b5 reductase 3 | Altijd | In 2 aandoeningen |
| DNM1Ldynamin 1L | Altijd | In 1 aandoening |
| EIF4A2eukaryotic translation initiation factor 4A2 | Altijd | In 1 aandoening |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Altijd | In 2 aandoeningen |
| FDXRferredoxin reductase | Altijd | In 2 aandoeningen |
| FEM1Bfem-1 homolog B | Altijd | In 1 aandoening |
| FTOFTO alpha-ketoglutarate dependent dioxygenase | Altijd | In 1 aandoening |
| GCSHglycine cleavage system protein H | Altijd | In 1 aandoening |
| GFM1G elongation factor mitochondrial 1 | Altijd | In 1 aandoening |
| GLI2GLI family zinc finger 2 | Altijd | In 1 aandoening |
| GLRBglycine receptor beta | Altijd | In 2 aandoeningen |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Altijd | In 1 aandoening |
| GPHNgephyrin | Altijd | In 3 aandoeningen |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Altijd | In 1 aandoening |
| GTF2H5general transcription factor IIH subunit 5 | Altijd | In 2 aandoeningen |
| IREB2iron responsive element binding protein 2 | Altijd | In 1 aandoening |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Altijd | In 1 aandoening |
| KDM2Blysine demethylase 2B | Altijd | In 1 aandoening |
| KDM6Blysine demethylase 6B | Altijd | In 1 aandoening |
| KIF5Ckinesin family member 5C | Altijd | In 1 aandoening |
| MBOAT7membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7 | Altijd | In 1 aandoening |
| MED17mediator complex subunit 17 | Altijd | In 1 aandoening |
Toon nog 351 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| MOCS3molybdenum cofactor synthesis 3 | Altijd | In 1 aandoening |
| NFASCneurofascin | Altijd | In 1 aandoening |
| NIPBLNIPBL cohesin loading factor | Altijd | In 2 aandoeningen |
| OPA1OPA1 mitochondrial dynamin like GTPase | Altijd | In 1 aandoening |
| PEX11Bperoxisomal biogenesis factor 11 beta | Altijd | In 1 aandoening |
| PI4KAphosphatidylinositol 4-kinase alpha | Altijd | In 1 aandoening |
| PLAAphospholipase A2 activating protein | Altijd | In 1 aandoening |
| POLR1ARNA polymerase I subunit A | Altijd | In 1 aandoening |
| PSAPprosaposin | Altijd | In 1 aandoening |
| PTPN23protein tyrosine phosphatase non-receptor type 23 | Altijd | In 1 aandoening |
| RNF13ring finger protein 13 | Altijd | In 2 aandoeningen |
| RNU2-2RNA, U2 small nuclear 2 | Altijd | In 1 aandoening |
| SCO2synthesis of cytochrome C oxidase 2 | Altijd | In 1 aandoening |
| SEC31ASEC31 homolog A, COPII component | Altijd | In 1 aandoening |
| SGSM3small G protein signaling modulator 3 | Altijd | In 1 aandoening |
| SLC2A1solute carrier family 2 member 1 | Altijd | In 3 aandoeningen |
| SLC6A3solute carrier family 6 member 3 | Altijd | In 2 aandoeningen |
| SMAD4SMAD family member 4 | Altijd | In 1 aandoening |
| SMC1Astructural maintenance of chromosomes 1A | Altijd | In 2 aandoeningen |
| SOD1superoxide dismutase 1 | Altijd | In 1 aandoening |
| SPG21SPG21 abhydrolase domain containing, maspardin | Altijd | In 1 aandoening |
| SUPT7LSPT7 like, STAGA complex subunit gamma | Altijd | In 1 aandoening |
| TMX2thioredoxin related transmembrane protein 2 | Altijd | In 1 aandoening |
| TOR1Atorsin family 1 member A | Altijd | In 3 aandoeningen |
| TSEN54tRNA splicing endonuclease subunit 54 | Altijd | In 2 aandoeningen |
| VAC14VAC14 component of PIKFYVE complex | Altijd | In 1 aandoening |
| VARS2valyl-tRNA synthetase 2, mitochondrial | Altijd | In 1 aandoening |
| VPS53VPS53 subunit of GARP complex | Altijd | In 1 aandoening |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Altijd | In 3 aandoeningen |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Altijd | In 2 aandoeningen |
| ADARadenosine deaminase RNA specific | Heel vaak (80–99%) | In 2 aandoeningen |
| APPamyloid beta precursor protein | Heel vaak (80–99%) | In 1 aandoening |
| ATP7AATPase copper transporting alpha | Heel vaak (80–99%) | In 2 aandoeningen |
| BRD4bromodomain containing 4 | Heel vaak (80–99%) | In 1 aandoening |
| CLCF1cardiotrophin like cytokine factor 1 | Heel vaak (80–99%) | In 1 aandoening |
| CRLF1cytokine receptor like factor 1 | Heel vaak (80–99%) | In 1 aandoening |
| CRYABcrystallin alpha B | Heel vaak (80–99%) | In 1 aandoening |
| DHCR2424-dehydrocholesterol reductase | Heel vaak (80–99%) | In 1 aandoening |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Heel vaak (80–99%) | In 2 aandoeningen |
| ERCC5ERCC excision repair 5, endonuclease | Heel vaak (80–99%) | In 1 aandoening |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Heel vaak (80–99%) | In 2 aandoeningen |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Heel vaak (80–99%) | In 2 aandoeningen |
| GLRA1glycine receptor alpha 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| GPT2glutamic--pyruvic transaminase 2 | Heel vaak (80–99%) | In 1 aandoening |
| HDAC8histone deacetylase 8 | Heel vaak (80–99%) | In 1 aandoening |
| HIKESHIheat shock protein nuclear import factor hikeshi | Heel vaak (80–99%) | In 1 aandoening |
| HSPG2heparan sulfate proteoglycan 2 | Heel vaak (80–99%) | In 1 aandoening |
| IFIH1interferon induced with helicase C domain 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| LSM11LSM11, U7 small nuclear RNA associated | Heel vaak (80–99%) | In 1 aandoening |
| MAU2MAU2 sister chromatid cohesion factor | Heel vaak (80–99%) | In 1 aandoening |
| MYO5Amyosin VA | Heel vaak (80–99%) | In 2 aandoeningen |
| NFU1NFU1 iron-sulfur cluster scaffold | Heel vaak (80–99%) | In 2 aandoeningen |
| NSD1nuclear receptor binding SET domain protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| OGDHoxoglutarate dehydrogenase | Heel vaak (80–99%) | In 1 aandoening |
| POLR3ARNA polymerase III subunit A | Heel vaak (80–99%) | In 2 aandoeningen |
| PSEN1presenilin 1 | Heel vaak (80–99%) | In 1 aandoening |
| PSEN2presenilin 2 | Heel vaak (80–99%) | In 1 aandoening |
| RAD21RAD21 cohesin complex component | Heel vaak (80–99%) | In 1 aandoening |
| RBMXRNA binding motif protein X-linked | Heel vaak (80–99%) | In 1 aandoening |
| RNASEH2Aribonuclease H2 subunit A | Heel vaak (80–99%) | In 1 aandoening |
| RNASEH2Bribonuclease H2 subunit B | Heel vaak (80–99%) | In 1 aandoening |
| RNASEH2Cribonuclease H2 subunit C | Heel vaak (80–99%) | In 1 aandoening |
| RNU4ATACRNA, U4atac small nuclear | Heel vaak (80–99%) | In 1 aandoening |
| RNU7-1RNA, U7 small nuclear 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Heel vaak (80–99%) | In 1 aandoening |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Heel vaak (80–99%) | In 3 aandoeningen |
| SHQ1SHQ1, H/ACA ribonucleoprotein assembly factor | Heel vaak (80–99%) | In 1 aandoening |
| SLC18A2solute carrier family 18 member A2 | Heel vaak (80–99%) | In 1 aandoening |
| SLC6A5solute carrier family 6 member 5 | Heel vaak (80–99%) | In 2 aandoeningen |
| SMC3structural maintenance of chromosomes 3 | Heel vaak (80–99%) | In 1 aandoening |
| SORL1sortilin related receptor 1 | Heel vaak (80–99%) | In 1 aandoening |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Heel vaak (80–99%) | In 1 aandoening |
| TOE1target of EGR1, exonuclease | Heel vaak (80–99%) | In 2 aandoeningen |
| TOMM40translocase of outer mitochondrial membrane 40 | Heel vaak (80–99%) | In 1 aandoening |
| TREM2triggering receptor expressed on myeloid cells 2 | Heel vaak (80–99%) | In 1 aandoening |
| TREX1three prime repair exonuclease 1 | Heel vaak (80–99%) | In 1 aandoening |
| VAMP1vesicle associated membrane protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| ZNF526zinc finger protein 526 | Heel vaak (80–99%) | In 1 aandoening |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Vaak (30–79%) | In 1 aandoening |
| AHDC1AT-hook DNA binding motif containing 1 | Vaak (30–79%) | In 1 aandoening |
| ALG11ALG11 alpha-1,2-mannosyltransferase | Vaak (30–79%) | In 1 aandoening |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Vaak (30–79%) | In 2 aandoeningen |
| APC2APC regulator of Wnt signaling pathway 2 | Vaak (30–79%) | In 1 aandoening |
| ATMATM serine/threonine kinase | Vaak (30–79%) | In 1 aandoening |
| AUTS2activator of transcription and developmental regulator AUTS2 | Vaak (30–79%) | In 2 aandoeningen |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Vaak (30–79%) | In 1 aandoening |
| BMPR1Abone morphogenetic protein receptor type 1A | Vaak (30–79%) | In 1 aandoening |
| BRAT1BRCA1 associated ATM activator 1 | Vaak (30–79%) | In 2 aandoeningen |
| BRCA2BRCA2 DNA repair associated | Vaak (30–79%) | In 1 aandoening |
| C12orf57chromosome 12 open reading frame 57 | Vaak (30–79%) | In 1 aandoening |
| CDC40cell division cycle 40 | Vaak (30–79%) | In 1 aandoening |
| CHEK2checkpoint kinase 2 | Vaak (30–79%) | In 1 aandoening |
| CITcitron rho-interacting serine/threonine kinase | Vaak (30–79%) | In 1 aandoening |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Vaak (30–79%) | In 1 aandoening |
| CRPPACDP-L-ribitol pyrophosphorylase A | Vaak (30–79%) | In 1 aandoening |
| DKC1dyskerin pseudouridine synthase 1 | Vaak (30–79%) | In 1 aandoening |
| DLATdihydrolipoamide S-acetyltransferase | Vaak (30–79%) | In 1 aandoening |
| DTYMKdeoxythymidylate kinase | Vaak (30–79%) | In 1 aandoening |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Vaak (30–79%) | In 1 aandoening |
| EPCAMepithelial cell adhesion molecule | Vaak (30–79%) | In 1 aandoening |
| ERLIN1ER lipid raft associated 1 | Vaak (30–79%) | In 1 aandoening |
| EXOC8exocyst complex component 8 | Vaak (30–79%) | In 1 aandoening |
| FGFR1fibroblast growth factor receptor 1 | Vaak (30–79%) | In 1 aandoening |
| FKRPfukutin related protein | Vaak (30–79%) | In 1 aandoening |
| FKTNfukutin | Vaak (30–79%) | In 1 aandoening |
| FRMD4AFERM domain containing 4A | Vaak (30–79%) | In 1 aandoening |
| FUSFUS RNA binding protein | Vaak (30–79%) | In 1 aandoening |
| GAMTguanidinoacetate N-methyltransferase | Vaak (30–79%) | In 1 aandoening |
| GBA1glucosylceramidase beta 1 | Vaak (30–79%) | In 3 aandoeningen |
| GLRX5glutaredoxin 5 | Vaak (30–79%) | In 1 aandoening |
| GMPPBGDP-mannose pyrophosphorylase B | Vaak (30–79%) | In 2 aandoeningen |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Vaak (30–79%) | In 1 aandoening |
| GRIA4glutamate ionotropic receptor AMPA type subunit 4 | Vaak (30–79%) | In 1 aandoening |
| JAM2junctional adhesion molecule 2 | Vaak (30–79%) | In 1 aandoening |
| KCNJ6potassium inwardly rectifying channel subfamily J member 6 | Vaak (30–79%) | In 2 aandoeningen |
| KRASKRas proto-oncogene, GTPase | Vaak (30–79%) | In 3 aandoeningen |
| KYNUkynureninase | Vaak (30–79%) | In 1 aandoening |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Vaak (30–79%) | In 1 aandoening |
| LINGO1leucine rich repeat and Ig domain containing 1 | Vaak (30–79%) | In 1 aandoening |
| MLH1mutL homolog 1 | Vaak (30–79%) | In 1 aandoening |
| MPDU1mannose-P-dolichol utilization defect 1 | Vaak (30–79%) | In 2 aandoeningen |
| MSH2mutS homolog 2 | Vaak (30–79%) | In 1 aandoening |
| MSH6mutS homolog 6 | Vaak (30–79%) | In 1 aandoening |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Vaak (30–79%) | In 2 aandoeningen |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Vaak (30–79%) | In 1 aandoening |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Vaak (30–79%) | In 1 aandoening |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Vaak (30–79%) | In 1 aandoening |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Vaak (30–79%) | In 1 aandoening |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Vaak (30–79%) | In 1 aandoening |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Vaak (30–79%) | In 1 aandoening |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Vaak (30–79%) | In 1 aandoening |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Vaak (30–79%) | In 1 aandoening |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Vaak (30–79%) | In 1 aandoening |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Vaak (30–79%) | In 1 aandoening |
| MTHFSmethenyltetrahydrofolate synthetase | Vaak (30–79%) | In 1 aandoening |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Vaak (30–79%) | In 1 aandoening |
| MUTYHmutY DNA glycosylase | Vaak (30–79%) | In 1 aandoening |
| NAGSN-acetylglutamate synthase | Vaak (30–79%) | In 1 aandoening |
| NARS1asparaginyl-tRNA synthetase 1 | Vaak (30–79%) | In 2 aandoeningen |
| NCAPG2non-SMC condensin II complex subunit G2 | Vaak (30–79%) | In 1 aandoening |
| NDE1nudE neurodevelopment protein 1 | Vaak (30–79%) | In 1 aandoening |
| NDUFA8NADH:ubiquinone oxidoreductase subunit A8 | Vaak (30–79%) | In 1 aandoening |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Vaak (30–79%) | In 1 aandoening |
| NOTCH2NLCnotch 2 N-terminal like C | Vaak (30–79%) | In 1 aandoening |
| NPATnuclear protein, coactivator of histone transcription | Vaak (30–79%) | In 1 aandoening |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Vaak (30–79%) | In 1 aandoening |
| NUP214nucleoporin 214 | Vaak (30–79%) | In 1 aandoening |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Vaak (30–79%) | In 1 aandoening |
| PARNpoly(A)-specific ribonuclease | Vaak (30–79%) | In 1 aandoening |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Vaak (30–79%) | In 1 aandoening |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Vaak (30–79%) | In 1 aandoening |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Vaak (30–79%) | In 1 aandoening |
| PLK4polo like kinase 4 | Vaak (30–79%) | In 1 aandoening |
| PLPBPpyridoxal phosphate binding protein | Vaak (30–79%) | In 1 aandoening |
| PMS1PMS1 homolog 1, mismatch repair system component | Vaak (30–79%) | In 1 aandoening |
| PMS2PMS1 homolog 2, mismatch repair system component | Vaak (30–79%) | In 1 aandoening |
| PNPOpyridoxamine 5'-phosphate oxidase | Vaak (30–79%) | In 2 aandoeningen |
| POLD1DNA polymerase delta 1, catalytic subunit | Vaak (30–79%) | In 1 aandoening |
| POLEDNA polymerase epsilon, catalytic subunit | Vaak (30–79%) | In 1 aandoening |
| POLGDNA polymerase gamma, catalytic subunit | Vaak (30–79%) | In 2 aandoeningen |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Vaak (30–79%) | In 1 aandoening |
| POMT1protein O-mannosyltransferase 1 | Vaak (30–79%) | In 1 aandoening |
| POMT2protein O-mannosyltransferase 2 | Vaak (30–79%) | In 1 aandoening |
| PPFIBP1PPFIB scaffold protein 1 | Vaak (30–79%) | In 1 aandoening |
| PPIL1peptidylprolyl isomerase like 1 | Vaak (30–79%) | In 1 aandoening |
| PRDM13PR/SET domain 13 | Vaak (30–79%) | In 1 aandoening |
| PSAT1phosphoserine aminotransferase 1 | Vaak (30–79%) | In 2 aandoeningen |
| RANBP2RAN binding protein 2 | Vaak (30–79%) | In 2 aandoeningen |
| REEP1receptor accessory protein 1 | Vaak (30–79%) | In 1 aandoening |
| RPS20ribosomal protein S20 | Vaak (30–79%) | In 1 aandoening |
| RPS6KA3ribosomal protein S6 kinase A3 | Vaak (30–79%) | In 1 aandoening |
| RTEL1regulator of telomere elongation helicase 1 | Vaak (30–79%) | In 1 aandoening |
| SEMA4Asemaphorin 4A | Vaak (30–79%) | In 1 aandoening |
| SIGMAR1sigma receptor chaperone 1 | Vaak (30–79%) | In 1 aandoening |
| SIL1SIL1 nucleotide exchange factor | Vaak (30–79%) | In 1 aandoening |
| SLC1A4solute carrier family 1 member 4 | Vaak (30–79%) | In 1 aandoening |
| SLC25A46solute carrier family 25 member 46 | Vaak (30–79%) | In 1 aandoening |
| SLC30A10solute carrier family 30 member 10 | Vaak (30–79%) | In 1 aandoening |
| SLC6A8solute carrier family 6 member 8 | Vaak (30–79%) | In 2 aandoeningen |
| SMPD4sphingomyelin phosphodiesterase 4 | Vaak (30–79%) | In 1 aandoening |
| SORDsorbitol dehydrogenase | Vaak (30–79%) | In 1 aandoening |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Vaak (30–79%) | In 1 aandoening |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Vaak (30–79%) | In 1 aandoening |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Vaak (30–79%) | In 1 aandoening |
| STT3ASTT3 oligosaccharyltransferase complex catalytic subunit A | Vaak (30–79%) | In 1 aandoening |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Vaak (30–79%) | In 1 aandoening |
| TARDBPTAR DNA binding protein | Vaak (30–79%) | In 1 aandoening |
| TERCtelomerase RNA component | Vaak (30–79%) | In 1 aandoening |
| TERTtelomerase reverse transcriptase | Vaak (30–79%) | In 1 aandoening |
| TGFBR2transforming growth factor beta receptor 2 | Vaak (30–79%) | In 1 aandoening |
| TINF2TERF1 interacting nuclear factor 2 | Vaak (30–79%) | In 2 aandoeningen |
| TM2D3TM2 domain containing 3 | Vaak (30–79%) | In 1 aandoening |
| TRMT2BtRNA methyltransferase 2B | Vaak (30–79%) | In 1 aandoening |
| TRMT5tRNA methyltransferase 5 | Vaak (30–79%) | In 1 aandoening |
| TUBGCP4tubulin gamma complex component 4 | Vaak (30–79%) | In 1 aandoening |
| TUBGCP6tubulin gamma complex component 6 | Vaak (30–79%) | In 1 aandoening |
| UBQLN2ubiquilin 2 | Vaak (30–79%) | In 1 aandoening |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Vaak (30–79%) | In 1 aandoening |
| AARS1alanyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| ACOX1acyl-CoA oxidase 1 | Soms (5–29%) | In 2 aandoeningen |
| ACTA1actin alpha 1, skeletal muscle | Soms (5–29%) | In 1 aandoening |
| AFG2AAAA ATPase AFG2A | Soms (5–29%) | In 1 aandoening |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Soms (5–29%) | In 1 aandoening |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Soms (5–29%) | In 2 aandoeningen |
| ARHGAP31Rho GTPase activating protein 31 | Soms (5–29%) | In 1 aandoening |
| ASXL3ASXL transcriptional regulator 3 | Soms (5–29%) | In 2 aandoeningen |
| CARS1cysteinyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| CFAP20cilia and flagella associated protein 20 | Soms (5–29%) | In 1 aandoening |
| CHMP1Acharged multivesicular body protein 1A | Soms (5–29%) | In 1 aandoening |
| CLPBClpB family mitochondrial disaggregase | Soms (5–29%) | In 1 aandoening |
| CTNNA2catenin alpha 2 | Soms (5–29%) | In 1 aandoening |
| DBR1debranching RNA lariats 1 | Soms (5–29%) | In 1 aandoening |
| DHCR77-dehydrocholesterol reductase | Soms (5–29%) | In 2 aandoeningen |
| DLL4delta like canonical Notch ligand 4 | Soms (5–29%) | In 1 aandoening |
| DOCK6dedicator of cytokinesis 6 | Soms (5–29%) | In 1 aandoening |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Soms (5–29%) | In 2 aandoeningen |
| DPYDdihydropyrimidine dehydrogenase | Soms (5–29%) | In 2 aandoeningen |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Soms (5–29%) | In 1 aandoening |
| EOGTEGF domain specific O-linked N-acetylglucosamine transferase | Soms (5–29%) | In 1 aandoening |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Soms (5–29%) | In 1 aandoening |
| EXTL3exostosin like glycosyltransferase 3 | Soms (5–29%) | In 1 aandoening |
| FBXO22F-box protein 22 | Soms (5–29%) | In 1 aandoening |
| FBXW11F-box and WD repeat domain containing 11 | Soms (5–29%) | In 1 aandoening |
| GAD1glutamate decarboxylase 1 | Soms (5–29%) | In 1 aandoening |
| GNAI1G protein subunit alpha i1 | Soms (5–29%) | In 1 aandoening |
| GON7GON7 subunit of KEOPS complex | Soms (5–29%) | In 1 aandoening |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Soms (5–29%) | In 1 aandoening |
| GTF2E2general transcription factor IIE subunit 2 | Soms (5–29%) | In 1 aandoening |
| GTF3C3general transcription factor IIIC subunit 3 | Soms (5–29%) | In 1 aandoening |
| H1-4H1.4 linker histone, cluster member | Soms (5–29%) | In 1 aandoening |
| HNRNPCheterogeneous nuclear ribonucleoprotein C | Soms (5–29%) | In 1 aandoening |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Soms (5–29%) | In 1 aandoening |
| HS2ST1heparan sulfate 2-O-sulfotransferase 1 | Soms (5–29%) | In 1 aandoening |
| KARS1lysyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Soms (5–29%) | In 1 aandoening |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Soms (5–29%) | In 2 aandoeningen |
| KCNQ3potassium voltage-gated channel subfamily Q member 3 | Soms (5–29%) | In 1 aandoening |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Soms (5–29%) | In 1 aandoening |
| KIF11kinesin family member 11 | Soms (5–29%) | In 1 aandoening |
| LAGE3L antigen family member 3 | Soms (5–29%) | In 1 aandoening |
| LMNB1lamin B1 | Soms (5–29%) | In 1 aandoening |
| LYSTlysosomal trafficking regulator | Soms (5–29%) | In 1 aandoening |
| MIPEPmitochondrial intermediate peptidase | Soms (5–29%) | In 1 aandoening |
| MORC2MORC family CW-type zinc finger 2 | Soms (5–29%) | In 2 aandoeningen |
| MPLKIPM-phase specific PLK1 interacting protein | Soms (5–29%) | In 1 aandoening |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Soms (5–29%) | In 2 aandoeningen |
| NALCNsodium leak channel, non-selective | Soms (5–29%) | In 1 aandoening |
| NDPnorrin cystine knot growth factor NDP | Soms (5–29%) | In 1 aandoening |
| NFIXnuclear factor I X | Soms (5–29%) | In 1 aandoening |
| NOP56NOP56 ribonucleoprotein | Soms (5–29%) | In 1 aandoening |
| NOTCH1notch receptor 1 | Soms (5–29%) | In 1 aandoening |
| NPHP3nephrocystin 3 | Soms (5–29%) | In 1 aandoening |
| NUP107nucleoporin 107 | Soms (5–29%) | In 1 aandoening |
| NUP133nucleoporin 133 | Soms (5–29%) | In 1 aandoening |
| NUP54nucleoporin 54 | Soms (5–29%) | In 1 aandoening |
| NUP62nucleoporin 62 | Soms (5–29%) | In 1 aandoening |
| OSGEPO-sialoglycoprotein endopeptidase | Soms (5–29%) | In 1 aandoening |
| OTUD6BOTU deubiquitinase 6B | Soms (5–29%) | In 2 aandoeningen |
| PCBD1pterin-4 alpha-carbinolamine dehydratase 1 | Soms (5–29%) | In 2 aandoeningen |
| PEX16peroxisomal biogenesis factor 16 | Soms (5–29%) | In 1 aandoening |
| PHGDHphosphoglycerate dehydrogenase | Soms (5–29%) | In 2 aandoeningen |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Soms (5–29%) | In 1 aandoening |
| PLCB1phospholipase C beta 1 | Soms (5–29%) | In 1 aandoening |
| PNPpurine nucleoside phosphorylase | Soms (5–29%) | In 1 aandoening |
| PPFIA3PPFI scaffold protein A3 | Soms (5–29%) | In 1 aandoening |
| PRORPprotein only RNase P catalytic subunit | Soms (5–29%) | In 1 aandoening |
| PRRT2proline rich transmembrane protein 2 | Soms (5–29%) | In 1 aandoening |
| PSPHphosphoserine phosphatase | Soms (5–29%) | In 2 aandoeningen |
| PTS6-pyruvoyltetrahydropterin synthase | Soms (5–29%) | In 2 aandoeningen |
| RAB27ARAB27A, member RAS oncogene family | Soms (5–29%) | In 1 aandoening |
| RBPJrecombination signal binding protein for immunoglobulin kappa J region | Soms (5–29%) | In 1 aandoening |
| RNF113Aring finger protein 113A | Soms (5–29%) | In 1 aandoening |
| RTTNrotatin | Soms (5–29%) | In 1 aandoening |
| SATB2SATB homeobox 2 | Soms (5–29%) | In 1 aandoening |
| SCAF4SR-related CTD associated factor 4 | Soms (5–29%) | In 1 aandoening |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Soms (5–29%) | In 1 aandoening |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Soms (5–29%) | In 2 aandoeningen |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Soms (5–29%) | In 1 aandoening |
| SLC12A5solute carrier family 12 member 5 | Soms (5–29%) | In 1 aandoening |
| SLC25A22solute carrier family 25 member 22 | Soms (5–29%) | In 1 aandoening |
| SLF2SMC5/6 complex localization factor 2 | Soms (5–29%) | In 1 aandoening |
| SPTBN1spectrin beta, non-erythrocytic 1 | Soms (5–29%) | In 1 aandoening |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Soms (5–29%) | In 1 aandoening |
| TANGO2transport and golgi organization 2 homolog | Soms (5–29%) | In 1 aandoening |
| TARS1threonyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| TBC1D24TBC1 domain family member 24 | Soms (5–29%) | In 1 aandoening |
| TBL1XR1TBL1X/Y related 1 | Soms (5–29%) | In 1 aandoening |
| TELO2telomere maintenance 2 | Soms (5–29%) | In 1 aandoening |
| TIMM50translocase of inner mitochondrial membrane 50 | Soms (5–29%) | In 1 aandoening |
| TMEM106Btransmembrane protein 106B | Soms (5–29%) | In 1 aandoening |
| TNPO2transportin 2 | Soms (5–29%) | In 1 aandoening |
| TP53tumor protein p53 | Soms (5–29%) | In 1 aandoening |
| TP53RKTP53 regulating kinase | Soms (5–29%) | In 1 aandoening |
| TPM2tropomyosin 2 | Soms (5–29%) | In 1 aandoening |
| TPRKBTP53RK binding protein | Soms (5–29%) | In 1 aandoening |
| TRAF7TNF receptor associated factor 7 | Soms (5–29%) | In 1 aandoening |
| TTPAalpha tocopherol transfer protein | Soms (5–29%) | In 1 aandoening |
| UNC13Aunc-13 homolog A | Soms (5–29%) | In 1 aandoening |
| VPS13Avacuolar protein sorting 13 homolog A | Soms (5–29%) | In 1 aandoening |
| WDR62WD repeat domain 62 | Soms (5–29%) | In 1 aandoening |
| WDR73WD repeat domain 73 | Soms (5–29%) | In 1 aandoening |
| WLSWnt ligand secretion mediator | Soms (5–29%) | In 1 aandoening |
| YRDCyrdC N6-threonylcarbamoyltransferase domain containing | Soms (5–29%) | In 1 aandoening |
| ZNF292zinc finger protein 292 | Soms (5–29%) | In 1 aandoening |
| ZSWIM6zinc finger SWIM-type containing 6 | Soms (5–29%) | In 1 aandoening |
| ACADSacyl-CoA dehydrogenase short chain | Zelden (1–4%) | In 1 aandoening |
| ADNPactivity dependent neuroprotector homeobox | Zelden (1–4%) | In 1 aandoening |
| CYB5Acytochrome b5 type A | Zelden (1–4%) | In 1 aandoening |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Zelden (1–4%) | In 1 aandoening |
| GLB1galactosidase beta 1 | Zelden (1–4%) | In 1 aandoening |
| POLG2DNA polymerase gamma 2, accessory subunit | Zelden (1–4%) | In 1 aandoening |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Zelden (1–4%) | In 1 aandoening |
| SETBP1SET binding protein 1 | Zelden (1–4%) | In 2 aandoeningen |
| SLC25A4solute carrier family 25 member 4 | Zelden (1–4%) | In 1 aandoening |
| TWNKtwinkle mtDNA helicase | Zelden (1–4%) | In 1 aandoening |
| BCKDHAbranched chain keto acid dehydrogenase E1 subunit alpha | Niet vastgelegd | In 1 aandoening |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Niet vastgelegd | In 1 aandoening |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Niet vastgelegd | In 1 aandoening |
| CASKcalcium/calmodulin dependent serine protein kinase | Niet vastgelegd | In 1 aandoening |
| DNAJC12DnaJ heat shock protein family (Hsp40) member C12 | Niet vastgelegd | In 1 aandoening |
| EBPEBP cholestenol delta-isomerase | Niet vastgelegd | In 1 aandoening |
| EIF2AK3eukaryotic translation initiation factor 2 alpha kinase 3 | Niet vastgelegd | In 1 aandoening |
| GALCgalactosylceramidase | Niet vastgelegd | In 1 aandoening |
| GM2Aganglioside GM2 activator | Niet vastgelegd | In 1 aandoening |
| HEPACAMhepatic and glial cell adhesion molecule | Niet vastgelegd | In 1 aandoening |
| HEXAhexosaminidase subunit alpha | Niet vastgelegd | In 1 aandoening |
| HLCSholocarboxylase synthetase | Niet vastgelegd | In 1 aandoening |
| HTRA2HtrA serine peptidase 2 | Niet vastgelegd | In 1 aandoening |
| HTThuntingtin | Niet vastgelegd | In 1 aandoening |
| ITM2Bintegral membrane protein 2B | Niet vastgelegd | In 1 aandoening |
| KCNA4potassium voltage-gated channel subfamily A member 4 | Niet vastgelegd | In 1 aandoening |
| MAP2K1mitogen-activated protein kinase kinase 1 | Niet vastgelegd | In 1 aandoening |
| MAP2K2mitogen-activated protein kinase kinase 2 | Niet vastgelegd | In 1 aandoening |
| MDH1malate dehydrogenase 1 | Niet vastgelegd | In 1 aandoening |
| MFN2mitofusin 2 | Niet vastgelegd | In 1 aandoening |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Niet vastgelegd | In 1 aandoening |
| MOCS2molybdenum cofactor synthesis 2 | Niet vastgelegd | In 1 aandoening |
| PITX3paired like homeodomain 3 | Niet vastgelegd | In 1 aandoening |
| PLA2G6phospholipase A2 group VI | Niet vastgelegd | In 1 aandoening |
| PRF1perforin 1 | Niet vastgelegd | In 1 aandoening |
| QDPRquinoid dihydropteridine reductase | Niet vastgelegd | In 1 aandoening |
| SLC12A2solute carrier family 12 member 2 | Niet vastgelegd | In 1 aandoening |
| SLC19A3solute carrier family 19 member 3 | Niet vastgelegd | In 1 aandoening |
| SLC6A19solute carrier family 6 member 19 | Niet vastgelegd | In 1 aandoening |
| SLC6A9solute carrier family 6 member 9 | Niet vastgelegd | In 1 aandoening |
| SOX10SRY-box transcription factor 10 | Niet vastgelegd | In 1 aandoening |
| SPOPspeckle type BTB/POZ protein | Niet vastgelegd | In 1 aandoening |
| SUOXsulfite oxidase | Niet vastgelegd | In 1 aandoening |
| UNC80unc-80 subunit of NALCN channel complex | Niet vastgelegd | In 1 aandoening |
| ZNF335zinc finger protein 335 | Niet vastgelegd | In 1 aandoening |
Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.
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Waar dit vandaan komt
- De Human Phenotype Ontology, release 2026-09-01: het kenmerk, de namen, de definitie en de genen die ermee verbonden zijn. Meer informatie vindt u op hpo.jax.org.
- Gegevensrelease 2026.10.16-c6eea6bf.
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