Kenmerk
Decreased reflex response
Klinische naam: Hyporeflexia
Reduction of neurologic reflexes such as the knee-jerk reaction.
Samenvatting
- Ook bekend als
- Decreased reflexes
- Lichaamssysteem
- Abnormality of the nervous system
ReferentiegenoomGRCh38hg38
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Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Decreased reflex response 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 |
|---|---|---|
| ARHGEF2Rho/Rac guanine nucleotide exchange factor 2 | Altijd | In 1 aandoening |
| ATP6AP2ATPase H+ transporting accessory protein 2 | Altijd | In 1 aandoening |
| CNBPCCHC-type zinc finger nucleic acid binding protein | Altijd | In 1 aandoening |
| COA7cytochrome c oxidase assembly factor 7 | Altijd | In 1 aandoening |
| COX8Acytochrome c oxidase subunit 8A | Altijd | In 1 aandoening |
| CPT1Acarnitine palmitoyltransferase 1A | Altijd | In 1 aandoening |
| DHHdesert hedgehog signaling molecule | Altijd | In 1 aandoening |
| DHTKD1dehydrogenase E1 and transketolase domain containing 1 | Altijd | In 1 aandoening |
| DYNC1H1dynein cytoplasmic 1 heavy chain 1 | Altijd | In 2 aandoeningen |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Altijd | In 1 aandoening |
| EXOSC1exosome component 1 | Altijd | In 1 aandoening |
| GAAalpha glucosidase | Altijd | In 1 aandoening |
| GDAP1ganglioside induced differentiation associated protein 1 | Altijd | In 2 aandoeningen |
| GTPBP2GTP binding protein 2 | Altijd | In 1 aandoening |
| HMGCR3-hydroxy-3-methylglutaryl-CoA reductase | Altijd | In 1 aandoening |
| KDM6Blysine demethylase 6B | Altijd | In 1 aandoening |
| KYkyphoscoliosis peptidase | Altijd | In 1 aandoening |
| LPIN1lipin 1 | Altijd | In 1 aandoening |
| LRP4LDL receptor related protein 4 | Altijd | In 1 aandoening |
| LRRC7leucine rich repeat containing 7 | Altijd | In 1 aandoening |
| LRRK1leucine rich repeat kinase 1 | Altijd | In 1 aandoening |
| MFN2mitofusin 2 | Altijd | In 3 aandoeningen |
| MMEmembrane metalloendopeptidase | Altijd | In 3 aandoeningen |
| MPZmyelin protein zero | Altijd | In 7 aandoeningen |
| MYH7myosin heavy chain 7 | Altijd | In 1 aandoening |
| NAV3neuron navigator 3 | Altijd | In 1 aandoening |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Altijd | In 1 aandoening |
| NOTCH2NLCnotch 2 N-terminal like C | Altijd | In 2 aandoeningen |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Altijd | In 1 aandoening |
| PMP22peripheral myelin protein 22 | Altijd | In 8 aandoeningen |
| PNPLA6patatin like domain 6, lysophospholipase | Altijd | In 2 aandoeningen |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Altijd | In 1 aandoening |
| POMKprotein O-mannose kinase | Altijd | In 2 aandoeningen |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Altijd | In 1 aandoening |
| PSAPprosaposin | Altijd | In 6 aandoeningen |
| PUM1pumilio RNA binding family member 1 | Altijd | In 1 aandoening |
| PYROXD1pyridine nucleotide-disulphide oxidoreductase domain 1 | Altijd | In 1 aandoening |
| RAP1GDS1Rap1 GTPase-GDP dissociation stimulator 1 | Altijd | In 1 aandoening |
| REEP1receptor accessory protein 1 | Altijd | In 1 aandoening |
| RNF170ring finger protein 170 | Altijd | In 1 aandoening |
Toon nog 355 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| SNIP1Smad nuclear interacting protein 1 | Altijd | In 1 aandoening |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Altijd | In 2 aandoeningen |
| TRIM63tripartite motif containing 63 | Altijd | In 1 aandoening |
| UBAP2Lubiquitin associated protein 2 like | Altijd | In 1 aandoening |
| UNC13Aunc-13 homolog A | Altijd | In 1 aandoening |
| VAPBVAMP associated protein B and C | Altijd | In 1 aandoening |
| WWOXWW domain containing oxidoreductase | Altijd | In 2 aandoeningen |
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Heel vaak (80–99%) | In 1 aandoening |
| ARandrogen receptor | Heel vaak (80–99%) | In 2 aandoeningen |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Heel vaak (80–99%) | In 1 aandoening |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Heel vaak (80–99%) | In 1 aandoening |
| COL4A1collagen type IV alpha 1 chain | Heel vaak (80–99%) | In 1 aandoening |
| CRPPACDP-L-ribitol pyrophosphorylase A | Heel vaak (80–99%) | In 1 aandoening |
| DAG1dystroglycan 1 | Heel vaak (80–99%) | In 1 aandoening |
| ELOVL4ELOVL fatty acid elongase 4 | Heel vaak (80–99%) | In 2 aandoeningen |
| ELP1elongator acetyltransferase complex subunit 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| EMC1ER membrane protein complex subunit 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| EXOSC3exosome component 3 | Heel vaak (80–99%) | In 1 aandoening |
| EXOSC8exosome component 8 | Heel vaak (80–99%) | In 1 aandoening |
| EXOSC9exosome component 9 | Heel vaak (80–99%) | In 2 aandoeningen |
| FHL1four and a half LIM domains 1 | Heel vaak (80–99%) | In 3 aandoeningen |
| FKRPfukutin related protein | Heel vaak (80–99%) | In 2 aandoeningen |
| FKTNfukutin | Heel vaak (80–99%) | In 2 aandoeningen |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Heel vaak (80–99%) | In 1 aandoening |
| MYOTmyotilin | Heel vaak (80–99%) | In 1 aandoening |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Heel vaak (80–99%) | In 1 aandoening |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Heel vaak (80–99%) | In 1 aandoening |
| POMT1protein O-mannosyltransferase 1 | Heel vaak (80–99%) | In 1 aandoening |
| POMT2protein O-mannosyltransferase 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| RAI1retinoic acid induced 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| RUBCNrubicon autophagy regulator | Heel vaak (80–99%) | In 1 aandoening |
| RXYLT1ribitol xylosyltransferase 1 | Heel vaak (80–99%) | In 1 aandoening |
| RYR1ryanodine receptor 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| SCO2synthesis of cytochrome C oxidase 2 | Heel vaak (80–99%) | In 1 aandoening |
| SLC25A46solute carrier family 25 member 46 | Heel vaak (80–99%) | In 2 aandoeningen |
| SNX14sorting nexin 14 | Heel vaak (80–99%) | In 2 aandoeningen |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Heel vaak (80–99%) | In 2 aandoeningen |
| TBCKTBC1 domain containing kinase | Heel vaak (80–99%) | In 1 aandoening |
| TMCO1transmembrane and coiled-coil domains 1 | Heel vaak (80–99%) | In 1 aandoening |
| TUBA8tubulin alpha 8 | Heel vaak (80–99%) | In 1 aandoening |
| VRK1VRK serine/threonine kinase 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| AARS1alanyl-tRNA synthetase 1 | Vaak (30–79%) | In 3 aandoeningen |
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Vaak (30–79%) | In 1 aandoening |
| ACTA1actin alpha 1, skeletal muscle | Vaak (30–79%) | In 6 aandoeningen |
| ACTL6Bactin like 6B | Vaak (30–79%) | In 1 aandoening |
| ALDH5A1aldehyde dehydrogenase 5 family member A1 | Vaak (30–79%) | In 1 aandoening |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Vaak (30–79%) | In 2 aandoeningen |
| ARSAarylsulfatase A | Vaak (30–79%) | In 4 aandoeningen |
| ATN1atrophin 1 | Vaak (30–79%) | In 1 aandoening |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Vaak (30–79%) | In 1 aandoening |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Vaak (30–79%) | In 1 aandoening |
| ATP6V1AATPase H+ transporting V1 subunit A | Vaak (30–79%) | In 1 aandoening |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Vaak (30–79%) | In 1 aandoening |
| ATXN2ataxin 2 | Vaak (30–79%) | In 2 aandoeningen |
| BEAN1brain expressed associated with NEDD4 1 | Vaak (30–79%) | In 1 aandoening |
| C19orf12chromosome 19 open reading frame 12 | Vaak (30–79%) | In 2 aandoeningen |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Vaak (30–79%) | In 1 aandoening |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Vaak (30–79%) | In 1 aandoening |
| CACNA1Scalcium voltage-gated channel subunit alpha1 S | Vaak (30–79%) | In 1 aandoening |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Vaak (30–79%) | In 1 aandoening |
| CCDC47coiled-coil domain containing 47 | Vaak (30–79%) | In 1 aandoening |
| CDK19cyclin dependent kinase 19 | Vaak (30–79%) | In 1 aandoening |
| CELF2CUGBP Elav-like family member 2 | Vaak (30–79%) | In 1 aandoening |
| CFL2cofilin 2 | Vaak (30–79%) | In 1 aandoening |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Vaak (30–79%) | In 4 aandoeningen |
| CLTCclathrin heavy chain | Vaak (30–79%) | In 1 aandoening |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Vaak (30–79%) | In 1 aandoening |
| CNTNAP2contactin associated protein 2 | Vaak (30–79%) | In 2 aandoeningen |
| COG7component of oligomeric golgi complex 7 | Vaak (30–79%) | In 2 aandoeningen |
| COL13A1collagen type XIII alpha 1 chain | Vaak (30–79%) | In 1 aandoening |
| COLQcollagen like tail subunit of asymmetric acetylcholinesterase | Vaak (30–79%) | In 1 aandoening |
| CRYABcrystallin alpha B | Vaak (30–79%) | In 1 aandoening |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Vaak (30–79%) | In 1 aandoening |
| DALRD3DALR anticodon binding domain containing 3 | Vaak (30–79%) | In 1 aandoening |
| DBHdopamine beta-hydroxylase | Vaak (30–79%) | In 1 aandoening |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Vaak (30–79%) | In 1 aandoening |
| DGUOKdeoxyguanosine kinase | Vaak (30–79%) | In 1 aandoening |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Vaak (30–79%) | In 1 aandoening |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Vaak (30–79%) | In 1 aandoening |
| DNM1dynamin 1 | Vaak (30–79%) | In 1 aandoening |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Vaak (30–79%) | In 1 aandoening |
| EXTL3exostosin like glycosyltransferase 3 | Vaak (30–79%) | In 1 aandoening |
| FBN1fibrillin 1 | Vaak (30–79%) | In 1 aandoening |
| FBXO28F-box protein 28 | Vaak (30–79%) | In 2 aandoeningen |
| FGF12fibroblast growth factor 12 | Vaak (30–79%) | In 1 aandoening |
| FMR1fragile X messenger ribonucleoprotein 1 | Vaak (30–79%) | In 2 aandoeningen |
| FOXG1forkhead box G1 | Vaak (30–79%) | In 1 aandoening |
| FZR1fizzy and cell division cycle 20 related 1 | Vaak (30–79%) | In 2 aandoeningen |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Vaak (30–79%) | In 1 aandoening |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Vaak (30–79%) | In 1 aandoening |
| GABRA3gamma-aminobutyric acid type A receptor subunit alpha3 | Vaak (30–79%) | In 1 aandoening |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Vaak (30–79%) | In 1 aandoening |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Vaak (30–79%) | In 1 aandoening |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Vaak (30–79%) | In 1 aandoening |
| GBE11,4-alpha-glucan branching enzyme 1 | Vaak (30–79%) | In 1 aandoening |
| GEMIN4gem nuclear organelle associated protein 4 | Vaak (30–79%) | In 1 aandoening |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Vaak (30–79%) | In 1 aandoening |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Vaak (30–79%) | In 1 aandoening |
| HESX1HESX homeobox 1 | Vaak (30–79%) | In 1 aandoening |
| HMBShydroxymethylbilane synthase | Vaak (30–79%) | In 1 aandoening |
| HSPG2heparan sulfate proteoglycan 2 | Vaak (30–79%) | In 2 aandoeningen |
| KBTBD13kelch repeat and BTB domain containing 13 | Vaak (30–79%) | In 1 aandoening |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Vaak (30–79%) | In 1 aandoening |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Vaak (30–79%) | In 1 aandoening |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Vaak (30–79%) | In 1 aandoening |
| KCND3potassium voltage-gated channel subfamily D member 3 | Vaak (30–79%) | In 2 aandoeningen |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Vaak (30–79%) | In 1 aandoening |
| KCNJ18potassium inwardly rectifying channel subfamily J member 18 | Vaak (30–79%) | In 2 aandoeningen |
| KLHL41kelch like family member 41 | Vaak (30–79%) | In 3 aandoeningen |
| LAMB2laminin subunit beta 2 | Vaak (30–79%) | In 3 aandoeningen |
| LGI3leucine rich repeat LGI family member 3 | Vaak (30–79%) | In 1 aandoening |
| LHX3LIM homeobox 3 | Vaak (30–79%) | In 1 aandoening |
| LHX4LIM homeobox 4 | Vaak (30–79%) | In 1 aandoening |
| LMOD3leiomodin 3 | Vaak (30–79%) | In 1 aandoening |
| MAGmyelin associated glycoprotein | Vaak (30–79%) | In 1 aandoening |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Vaak (30–79%) | In 1 aandoening |
| MDH2malate dehydrogenase 2 | Vaak (30–79%) | In 1 aandoening |
| MGME1mitochondrial genome maintenance exonuclease 1 | Vaak (30–79%) | In 2 aandoeningen |
| MORC2MORC family CW-type zinc finger 2 | Vaak (30–79%) | In 2 aandoeningen |
| MPV17mitochondrial inner membrane protein MPV17 | Vaak (30–79%) | In 2 aandoeningen |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Vaak (30–79%) | In 2 aandoeningen |
| MT-TEmitochondrially encoded tRNA-Glu (GAA/G) | Vaak (30–79%) | In 1 aandoening |
| MYH14myosin heavy chain 14 | Vaak (30–79%) | In 1 aandoening |
| MYPNmyopalladin | Vaak (30–79%) | In 1 aandoening |
| NAGLUN-acetyl-alpha-glucosaminidase | Vaak (30–79%) | In 1 aandoening |
| NARS1asparaginyl-tRNA synthetase 1 | Vaak (30–79%) | In 2 aandoeningen |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Vaak (30–79%) | In 1 aandoening |
| NEBnebulin | Vaak (30–79%) | In 4 aandoeningen |
| NECAP1NECAP endocytosis associated 1 | Vaak (30–79%) | In 1 aandoening |
| NEFLneurofilament light chain | Vaak (30–79%) | In 4 aandoeningen |
| NGLY1N-glycanase 1 | Vaak (30–79%) | In 2 aandoeningen |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Vaak (30–79%) | In 1 aandoening |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Vaak (30–79%) | In 1 aandoening |
| PACS2phosphofurin acidic cluster sorting protein 2 | Vaak (30–79%) | In 1 aandoening |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Vaak (30–79%) | In 1 aandoening |
| PDHBpyruvate dehydrogenase E1 subunit beta | Vaak (30–79%) | In 1 aandoening |
| PEX5peroxisomal biogenesis factor 5 | Vaak (30–79%) | In 1 aandoening |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Vaak (30–79%) | In 2 aandoeningen |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Vaak (30–79%) | In 2 aandoeningen |
| PLP1proteolipid protein 1 | Vaak (30–79%) | In 1 aandoening |
| PMM2phosphomannomutase 2 | Vaak (30–79%) | In 2 aandoeningen |
| PODXLpodocalyxin like | Vaak (30–79%) | In 1 aandoening |
| POLGDNA polymerase gamma, catalytic subunit | Vaak (30–79%) | In 6 aandoeningen |
| POU1F1POU class 1 homeobox 1 | Vaak (30–79%) | In 1 aandoening |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Vaak (30–79%) | In 1 aandoening |
| PRDM13PR/SET domain 13 | Vaak (30–79%) | In 2 aandoeningen |
| PROP1PROP paired-like homeobox 1 | Vaak (30–79%) | In 1 aandoening |
| QRICH1glutamine rich 1 | Vaak (30–79%) | In 1 aandoening |
| RFC1replication factor C subunit 1 | Vaak (30–79%) | In 1 aandoening |
| RMND1required for meiotic nuclear division 1 homolog | Vaak (30–79%) | In 1 aandoening |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Vaak (30–79%) | In 1 aandoening |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Vaak (30–79%) | In 1 aandoening |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Vaak (30–79%) | In 1 aandoening |
| SCYL1SCY1 like pseudokinase 1 | Vaak (30–79%) | In 2 aandoeningen |
| SELENONselenoprotein N | Vaak (30–79%) | In 1 aandoening |
| SLC13A5solute carrier family 13 member 5 | Vaak (30–79%) | In 1 aandoening |
| SLC1A2solute carrier family 1 member 2 | Vaak (30–79%) | In 1 aandoening |
| SLC25A1solute carrier family 25 member 1 | Vaak (30–79%) | In 1 aandoening |
| SLC25A4solute carrier family 25 member 4 | Vaak (30–79%) | In 2 aandoeningen |
| SLC38A3solute carrier family 38 member 3 | Vaak (30–79%) | In 1 aandoening |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Vaak (30–79%) | In 2 aandoeningen |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Vaak (30–79%) | In 1 aandoening |
| SYNJ1synaptojanin 1 | Vaak (30–79%) | In 2 aandoeningen |
| SZT2SZT2 subunit of KICSTOR complex | Vaak (30–79%) | In 2 aandoeningen |
| TBC1D24TBC1 domain family member 24 | Vaak (30–79%) | In 2 aandoeningen |
| TPM2tropomyosin 2 | Vaak (30–79%) | In 3 aandoeningen |
| TPM3tropomyosin 3 | Vaak (30–79%) | In 2 aandoeningen |
| TRAK1trafficking kinesin protein 1 | Vaak (30–79%) | In 1 aandoening |
| TRAPPC11trafficking protein particle complex subunit 11 | Vaak (30–79%) | In 1 aandoening |
| TRMT5tRNA methyltransferase 5 | Vaak (30–79%) | In 1 aandoening |
| TRMUtRNA mitochondrial 2-thiouridylase | Vaak (30–79%) | In 1 aandoening |
| TSHBthyroid stimulating hormone subunit beta | Vaak (30–79%) | In 1 aandoening |
| TSPYL1TSPY like 1 | Vaak (30–79%) | In 1 aandoening |
| TWNKtwinkle mtDNA helicase | Vaak (30–79%) | In 5 aandoeningen |
| UBA5ubiquitin like modifier activating enzyme 5 | Vaak (30–79%) | In 1 aandoening |
| UFSP2UFM1 specific peptidase 2 | Vaak (30–79%) | In 1 aandoening |
| VPS13Avacuolar protein sorting 13 homolog A | Vaak (30–79%) | In 1 aandoening |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Vaak (30–79%) | In 2 aandoeningen |
| VWA1von Willebrand factor A domain containing 1 | Vaak (30–79%) | In 1 aandoening |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Vaak (30–79%) | In 1 aandoening |
| ACAT1acetyl-CoA acetyltransferase 1 | Soms (5–29%) | In 1 aandoening |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Soms (5–29%) | In 1 aandoening |
| ACO2aconitase 2 | Soms (5–29%) | In 1 aandoening |
| ANXA11annexin A11 | Soms (5–29%) | In 1 aandoening |
| ATXN1ataxin 1 | Soms (5–29%) | In 1 aandoening |
| ATXN10ataxin 10 | Soms (5–29%) | In 1 aandoening |
| BICD2BICD cargo adaptor 2 | Soms (5–29%) | In 1 aandoening |
| CARS1cysteinyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Soms (5–29%) | In 2 aandoeningen |
| DBR1debranching RNA lariats 1 | Soms (5–29%) | In 1 aandoening |
| DHX30DExH-box helicase 30 | Soms (5–29%) | In 1 aandoening |
| DKC1dyskerin pseudouridine synthase 1 | Soms (5–29%) | In 1 aandoening |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Soms (5–29%) | In 1 aandoening |
| DUOX2dual oxidase 2 | Soms (5–29%) | In 1 aandoening |
| DUOXA2dual oxidase maturation factor 2 | Soms (5–29%) | In 1 aandoening |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Soms (5–29%) | In 2 aandoeningen |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Soms (5–29%) | In 1 aandoening |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Soms (5–29%) | In 1 aandoening |
| FUSFUS RNA binding protein | Soms (5–29%) | In 2 aandoeningen |
| GALCgalactosylceramidase | Soms (5–29%) | In 1 aandoening |
| GBA1glucosylceramidase beta 1 | Soms (5–29%) | In 1 aandoening |
| GBF1golgi brefeldin A resistant guanine nucleotide exchange factor 1 | Soms (5–29%) | In 1 aandoening |
| GNASGNAS complex locus | Soms (5–29%) | In 3 aandoeningen |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Soms (5–29%) | In 1 aandoening |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Soms (5–29%) | In 2 aandoeningen |
| 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 |
| GTF2H5general transcription factor IIH subunit 5 | Soms (5–29%) | In 1 aandoening |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Soms (5–29%) | In 2 aandoeningen |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Soms (5–29%) | In 1 aandoening |
| IYDiodotyrosine deiodinase | Soms (5–29%) | In 1 aandoening |
| MCM3APminichromosome maintenance complex component 3 associated protein | Soms (5–29%) | In 1 aandoening |
| MPLKIPM-phase specific PLK1 interacting protein | Soms (5–29%) | In 1 aandoening |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Soms (5–29%) | In 1 aandoening |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Soms (5–29%) | In 1 aandoening |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Soms (5–29%) | In 1 aandoening |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Soms (5–29%) | In 1 aandoening |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Soms (5–29%) | In 1 aandoening |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Soms (5–29%) | In 1 aandoening |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Soms (5–29%) | In 1 aandoening |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Soms (5–29%) | In 1 aandoening |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Soms (5–29%) | In 1 aandoening |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Soms (5–29%) | In 1 aandoening |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Soms (5–29%) | In 1 aandoening |
| MTPAPmitochondrial poly(A) polymerase | Soms (5–29%) | In 1 aandoening |
| PARNpoly(A)-specific ribonuclease | Soms (5–29%) | In 1 aandoening |
| PEX1peroxisomal biogenesis factor 1 | Soms (5–29%) | In 2 aandoeningen |
| PEX10peroxisomal biogenesis factor 10 | Soms (5–29%) | In 1 aandoening |
| PEX6peroxisomal biogenesis factor 6 | Soms (5–29%) | In 1 aandoening |
| PGBD5piggyBac transposable element derived 5 | Soms (5–29%) | In 1 aandoening |
| PHKA1phosphorylase kinase regulatory subunit alpha 1 | Soms (5–29%) | In 1 aandoening |
| PHKG1phosphorylase kinase catalytic subunit gamma 1 | Soms (5–29%) | In 1 aandoening |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Soms (5–29%) | In 1 aandoening |
| PIK3R5phosphoinositide-3-kinase regulatory subunit 5 | Soms (5–29%) | In 1 aandoening |
| PMPCApeptidase, mitochondrial processing subunit alpha | Soms (5–29%) | In 1 aandoening |
| PNKPpolynucleotide kinase 3'-phosphatase | Soms (5–29%) | In 2 aandoeningen |
| POLG2DNA polymerase gamma 2, accessory subunit | Soms (5–29%) | In 1 aandoening |
| POLR3BRNA polymerase III subunit B | Soms (5–29%) | In 1 aandoening |
| PPOXprotoporphyrinogen oxidase | Soms (5–29%) | In 1 aandoening |
| PRDM12PR/SET domain 12 | Soms (5–29%) | In 1 aandoening |
| RNASEH1ribonuclease H1 | Soms (5–29%) | In 1 aandoening |
| RNF113Aring finger protein 113A | Soms (5–29%) | In 1 aandoening |
| RRM1ribonucleotide reductase catalytic subunit M1 | Soms (5–29%) | In 1 aandoening |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Soms (5–29%) | In 2 aandoeningen |
| RTEL1regulator of telomere elongation helicase 1 | Soms (5–29%) | In 1 aandoening |
| SEPTIN9septin 9 | Soms (5–29%) | In 1 aandoening |
| SETXsenataxin | Soms (5–29%) | In 1 aandoening |
| SIL1SIL1 nucleotide exchange factor | Soms (5–29%) | In 1 aandoening |
| SLC5A5solute carrier family 5 member 5 | Soms (5–29%) | In 1 aandoening |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Soms (5–29%) | In 1 aandoening |
| SQSTM1sequestosome 1 | Soms (5–29%) | In 2 aandoeningen |
| STX16syntaxin 16 | Soms (5–29%) | In 1 aandoening |
| TAOK1TAO kinase 1 | Soms (5–29%) | In 1 aandoening |
| TARDBPTAR DNA binding protein | Soms (5–29%) | In 1 aandoening |
| TARS1threonyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| TBK1TANK binding kinase 1 | Soms (5–29%) | In 2 aandoeningen |
| TERCtelomerase RNA component | Soms (5–29%) | In 1 aandoening |
| TERTtelomerase reverse transcriptase | Soms (5–29%) | In 1 aandoening |
| TGthyroglobulin | Soms (5–29%) | In 1 aandoening |
| TINF2TERF1 interacting nuclear factor 2 | Soms (5–29%) | In 1 aandoening |
| TK2thymidine kinase 2 | Soms (5–29%) | In 1 aandoening |
| TOP3ADNA topoisomerase III alpha | Soms (5–29%) | In 1 aandoening |
| TPOthyroid peroxidase | Soms (5–29%) | In 1 aandoening |
| TRIM8tripartite motif containing 8 | Soms (5–29%) | In 1 aandoening |
| TSEN15tRNA splicing endonuclease subunit 15 | Soms (5–29%) | In 1 aandoening |
| TSHRthyroid stimulating hormone receptor | Soms (5–29%) | In 1 aandoening |
| VCPvalosin containing protein | Soms (5–29%) | In 1 aandoening |
| WDR83OSWD repeat domain 83 opposite strand | Soms (5–29%) | In 1 aandoening |
| ZSWIM6zinc finger SWIM-type containing 6 | Soms (5–29%) | In 1 aandoening |
| B4GALNT1beta-1,4-N-acetyl-galactosaminyltransferase 1 | Zelden (1–4%) | In 2 aandoeningen |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Zelden (1–4%) | In 1 aandoening |
| PTF1Apancreas associated transcription factor 1a | Zelden (1–4%) | In 1 aandoening |
| ABCA1ATP binding cassette subfamily A member 1 | Niet vastgelegd | In 1 aandoening |
| ABHD12abhydrolase domain containing 12, lysophospholipase | Niet vastgelegd | In 1 aandoening |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Niet vastgelegd | In 1 aandoening |
| APTXaprataxin | Niet vastgelegd | In 1 aandoening |
| ATP1A1ATPase Na+/K+ transporting subunit alpha 1 | Niet vastgelegd | In 1 aandoening |
| ATP7AATPase copper transporting alpha | Niet vastgelegd | In 1 aandoening |
| BAG3BAG cochaperone 3 | Niet vastgelegd | In 1 aandoening |
| BSNDbarttin CLCNK type accessory subunit beta | Niet vastgelegd | In 1 aandoening |
| CLCNKAchloride voltage-gated channel Ka | Niet vastgelegd | In 1 aandoening |
| CLCNKBchloride voltage-gated channel Kb | Niet vastgelegd | In 1 aandoening |
| CNTNAP1contactin associated protein 1 | Niet vastgelegd | In 1 aandoening |
| COASYCoenzyme A synthase | Niet vastgelegd | In 1 aandoening |
| COX6A1cytochrome c oxidase subunit 6A1 | Niet vastgelegd | In 1 aandoening |
| DCAF8DDB1 and CUL4 associated factor 8 | Niet vastgelegd | In 1 aandoening |
| DMDdystrophin | Niet vastgelegd | In 2 aandoeningen |
| DNM2dynamin 2 | Niet vastgelegd | In 1 aandoening |
| DNMT1DNA methyltransferase 1 | Niet vastgelegd | In 1 aandoening |
| DOCK3dedicator of cytokinesis 3 | Niet vastgelegd | In 1 aandoening |
| EGR2early growth response 2 | Niet vastgelegd | In 1 aandoening |
| FDX2ferredoxin 2 | Niet vastgelegd | In 1 aandoening |
| FGD4FYVE, RhoGEF and PH domain containing 4 | Niet vastgelegd | In 1 aandoening |
| FIG4FIG4 phosphoinositide 5-phosphatase | Niet vastgelegd | In 1 aandoening |
| FLNCfilamin C | Niet vastgelegd | In 1 aandoening |
| GARS1glycyl-tRNA synthetase 1 | Niet vastgelegd | In 1 aandoening |
| GJB1gap junction protein beta 1 | Niet vastgelegd | In 1 aandoening |
| GLDCglycine decarboxylase | Niet vastgelegd | In 1 aandoening |
| GNB4G protein subunit beta 4 | Niet vastgelegd | In 1 aandoening |
| HDAC4histone deacetylase 4 | Niet vastgelegd | In 1 aandoening |
| HK1hexokinase 1 | Niet vastgelegd | In 1 aandoening |
| HNRNPDLheterogeneous nuclear ribonucleoprotein D like | Niet vastgelegd | In 1 aandoening |
| HSPB8heat shock protein family B (small) member 8 | Niet vastgelegd | In 1 aandoening |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Niet vastgelegd | In 1 aandoening |
| IGHMBP2immunoglobulin mu DNA binding protein 2 | Niet vastgelegd | In 2 aandoeningen |
| INF2inverted formin 2 | Niet vastgelegd | In 1 aandoening |
| KARS1lysyl-tRNA synthetase 1 | Niet vastgelegd | In 1 aandoening |
| KIAA0586KIAA0586 | Niet vastgelegd | In 1 aandoening |
| KIF1Akinesin family member 1A | Niet vastgelegd | In 2 aandoeningen |
| KIF1Bkinesin family member 1B | Niet vastgelegd | In 1 aandoening |
| LITAFlipopolysaccharide induced TNF factor | Niet vastgelegd | In 1 aandoening |
| LMNAlamin A/C | Niet vastgelegd | In 1 aandoening |
| LRSAM1leucine rich repeat and sterile alpha motif containing 1 | Niet vastgelegd | In 1 aandoening |
| LYSTlysosomal trafficking regulator | Niet vastgelegd | In 1 aandoening |
| MED25mediator complex subunit 25 | Niet vastgelegd | In 1 aandoening |
| MEGF10multiple EGF like domains 10 | Niet vastgelegd | In 1 aandoening |
| MRE11MRE11 double strand break repair nuclease | Niet vastgelegd | In 1 aandoening |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Niet vastgelegd | In 1 aandoening |
| NDRG1N-myc downstream regulated 1 | Niet vastgelegd | In 1 aandoening |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Niet vastgelegd | In 1 aandoening |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Niet vastgelegd | In 1 aandoening |
| NEFHneurofilament heavy chain | Niet vastgelegd | In 1 aandoening |
| NFASCneurofascin | Niet vastgelegd | In 1 aandoening |
| PEX12peroxisomal biogenesis factor 12 | Niet vastgelegd | In 1 aandoening |
| PEX2peroxisomal biogenesis factor 2 | Niet vastgelegd | In 1 aandoening |
| PEX7peroxisomal biogenesis factor 7 | Niet vastgelegd | In 1 aandoening |
| PGM3phosphoglucomutase 3 | Niet vastgelegd | In 1 aandoening |
| PHYHphytanoyl-CoA 2-hydroxylase | Niet vastgelegd | In 1 aandoening |
| PRXperiaxin | Niet vastgelegd | In 1 aandoening |
| PTRH2peptidyl-tRNA hydrolase 2 | Niet vastgelegd | In 1 aandoening |
| RAB7ARAB7A, member RAS oncogene family | Niet vastgelegd | In 1 aandoening |
| RETREG1reticulophagy regulator 1 | Niet vastgelegd | In 2 aandoeningen |
| SBF2SET binding factor 2 | Niet vastgelegd | In 1 aandoening |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Niet vastgelegd | In 1 aandoening |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Niet vastgelegd | In 1 aandoening |
| SLC25A19solute carrier family 25 member 19 | Niet vastgelegd | In 1 aandoening |
| SLC35A1solute carrier family 35 member A1 | Niet vastgelegd | In 1 aandoening |
| SLC5A7solute carrier family 5 member 7 | Niet vastgelegd | In 1 aandoening |
| SMN1survival of motor neuron 1, telomeric | Niet vastgelegd | In 1 aandoening |
| SMN2survival of motor neuron 2, centromeric | Niet vastgelegd | In 1 aandoening |
| SMPD1sphingomyelin phosphodiesterase 1 | Niet vastgelegd | In 1 aandoening |
| SOX10SRY-box transcription factor 10 | Niet vastgelegd | In 1 aandoening |
| STAC3SH3 and cysteine rich domain 3 | Niet vastgelegd | In 1 aandoening |
| SYT2synaptotagmin 2 | Niet vastgelegd | In 1 aandoening |
| TBC1D23TBC1 domain family member 23 | Niet vastgelegd | In 1 aandoening |
| TMEM240transmembrane protein 240 | Niet vastgelegd | In 1 aandoening |
| TPI1triosephosphate isomerase 1 | Niet vastgelegd | In 1 aandoening |
| TRIM32tripartite motif containing 32 | Niet vastgelegd | In 1 aandoening |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Niet vastgelegd | In 3 aandoeningen |
| TTRtransthyretin | Niet vastgelegd | In 1 aandoening |
| WARS1tryptophanyl-tRNA synthetase 1 | Niet vastgelegd | In 1 aandoening |
| WDR81WD repeat domain 81 | Niet vastgelegd | In 1 aandoening |
| WNK1WNK lysine deficient protein kinase 1 | Niet vastgelegd | In 1 aandoening |
| XPAXPA, DNA damage recognition and repair factor | Niet vastgelegd | In 1 aandoening |
| ZFHX3zinc finger homeobox 3 | 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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