Træk
Decreased reflex response
Klinisk navn: Hyporeflexia
Reduction of neurologic reflexes such as the knee-jerk reaction.
Resumé
- Også kaldet
- Decreased reflexes
- Kropssystem
- Abnormality of the nervous system
ReferencegenomGRCh38hg38
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Bestil min Genome Test395 gener knyttet til Decreased reflex response
Ændringer i disse gener forårsager sjældne tilstande, hvor Decreased reflex response ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ARHGEF2Rho/Rac guanine nucleotide exchange factor 2 | Altid | I 1 tilstand |
| ATP6AP2ATPase H+ transporting accessory protein 2 | Altid | I 1 tilstand |
| CNBPCCHC-type zinc finger nucleic acid binding protein | Altid | I 1 tilstand |
| COA7cytochrome c oxidase assembly factor 7 | Altid | I 1 tilstand |
| COX8Acytochrome c oxidase subunit 8A | Altid | I 1 tilstand |
| CPT1Acarnitine palmitoyltransferase 1A | Altid | I 1 tilstand |
| DHHdesert hedgehog signaling molecule | Altid | I 1 tilstand |
| DHTKD1dehydrogenase E1 and transketolase domain containing 1 | Altid | I 1 tilstand |
| DYNC1H1dynein cytoplasmic 1 heavy chain 1 | Altid | I 2 tilstande |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Altid | I 1 tilstand |
| EXOSC1exosome component 1 | Altid | I 1 tilstand |
| GAAalpha glucosidase | Altid | I 1 tilstand |
| GDAP1ganglioside induced differentiation associated protein 1 | Altid | I 2 tilstande |
| GTPBP2GTP binding protein 2 | Altid | I 1 tilstand |
| HMGCR3-hydroxy-3-methylglutaryl-CoA reductase | Altid | I 1 tilstand |
| KDM6Blysine demethylase 6B | Altid | I 1 tilstand |
| KYkyphoscoliosis peptidase | Altid | I 1 tilstand |
| LPIN1lipin 1 | Altid | I 1 tilstand |
| LRP4LDL receptor related protein 4 | Altid | I 1 tilstand |
| LRRC7leucine rich repeat containing 7 | Altid | I 1 tilstand |
| LRRK1leucine rich repeat kinase 1 | Altid | I 1 tilstand |
| MFN2mitofusin 2 | Altid | I 3 tilstande |
| MMEmembrane metalloendopeptidase | Altid | I 3 tilstande |
| MPZmyelin protein zero | Altid | I 7 tilstande |
| MYH7myosin heavy chain 7 | Altid | I 1 tilstand |
| NAV3neuron navigator 3 | Altid | I 1 tilstand |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Altid | I 1 tilstand |
| NOTCH2NLCnotch 2 N-terminal like C | Altid | I 2 tilstande |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Altid | I 1 tilstand |
| PMP22peripheral myelin protein 22 | Altid | I 8 tilstande |
| PNPLA6patatin like domain 6, lysophospholipase | Altid | I 2 tilstande |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Altid | I 1 tilstand |
| POMKprotein O-mannose kinase | Altid | I 2 tilstande |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Altid | I 1 tilstand |
| PSAPprosaposin | Altid | I 6 tilstande |
| PUM1pumilio RNA binding family member 1 | Altid | I 1 tilstand |
| PYROXD1pyridine nucleotide-disulphide oxidoreductase domain 1 | Altid | I 1 tilstand |
| RAP1GDS1Rap1 GTPase-GDP dissociation stimulator 1 | Altid | I 1 tilstand |
| REEP1receptor accessory protein 1 | Altid | I 1 tilstand |
| RNF170ring finger protein 170 | Altid | I 1 tilstand |
Vis 355 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| SNIP1Smad nuclear interacting protein 1 | Altid | I 1 tilstand |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Altid | I 2 tilstande |
| TRIM63tripartite motif containing 63 | Altid | I 1 tilstand |
| UBAP2Lubiquitin associated protein 2 like | Altid | I 1 tilstand |
| UNC13Aunc-13 homolog A | Altid | I 1 tilstand |
| VAPBVAMP associated protein B and C | Altid | I 1 tilstand |
| WWOXWW domain containing oxidoreductase | Altid | I 2 tilstande |
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| ARandrogen receptor | Meget ofte (80–99 %) | I 2 tilstande |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Meget ofte (80–99 %) | I 1 tilstand |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| COL4A1collagen type IV alpha 1 chain | Meget ofte (80–99 %) | I 1 tilstand |
| CRPPACDP-L-ribitol pyrophosphorylase A | Meget ofte (80–99 %) | I 1 tilstand |
| DAG1dystroglycan 1 | Meget ofte (80–99 %) | I 1 tilstand |
| ELOVL4ELOVL fatty acid elongase 4 | Meget ofte (80–99 %) | I 2 tilstande |
| ELP1elongator acetyltransferase complex subunit 1 | Meget ofte (80–99 %) | I 2 tilstande |
| EMC1ER membrane protein complex subunit 1 | Meget ofte (80–99 %) | I 2 tilstande |
| EXOSC3exosome component 3 | Meget ofte (80–99 %) | I 1 tilstand |
| EXOSC8exosome component 8 | Meget ofte (80–99 %) | I 1 tilstand |
| EXOSC9exosome component 9 | Meget ofte (80–99 %) | I 2 tilstande |
| FHL1four and a half LIM domains 1 | Meget ofte (80–99 %) | I 3 tilstande |
| FKRPfukutin related protein | Meget ofte (80–99 %) | I 2 tilstande |
| FKTNfukutin | Meget ofte (80–99 %) | I 2 tilstande |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| MYOTmyotilin | Meget ofte (80–99 %) | I 1 tilstand |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Meget ofte (80–99 %) | I 1 tilstand |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Meget ofte (80–99 %) | I 1 tilstand |
| POMT1protein O-mannosyltransferase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| POMT2protein O-mannosyltransferase 2 | Meget ofte (80–99 %) | I 2 tilstande |
| RAI1retinoic acid induced 1 | Meget ofte (80–99 %) | I 2 tilstande |
| RUBCNrubicon autophagy regulator | Meget ofte (80–99 %) | I 1 tilstand |
| RXYLT1ribitol xylosyltransferase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| RYR1ryanodine receptor 1 | Meget ofte (80–99 %) | I 2 tilstande |
| SCO2synthesis of cytochrome C oxidase 2 | Meget ofte (80–99 %) | I 1 tilstand |
| SLC25A46solute carrier family 25 member 46 | Meget ofte (80–99 %) | I 2 tilstande |
| SNX14sorting nexin 14 | Meget ofte (80–99 %) | I 2 tilstande |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Meget ofte (80–99 %) | I 2 tilstande |
| TBCKTBC1 domain containing kinase | Meget ofte (80–99 %) | I 1 tilstand |
| TMCO1transmembrane and coiled-coil domains 1 | Meget ofte (80–99 %) | I 1 tilstand |
| TUBA8tubulin alpha 8 | Meget ofte (80–99 %) | I 1 tilstand |
| VRK1VRK serine/threonine kinase 1 | Meget ofte (80–99 %) | I 2 tilstande |
| AARS1alanyl-tRNA synthetase 1 | Ofte (30–79 %) | I 3 tilstande |
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| ACTA1actin alpha 1, skeletal muscle | Ofte (30–79 %) | I 6 tilstande |
| ACTL6Bactin like 6B | Ofte (30–79 %) | I 1 tilstand |
| ALDH5A1aldehyde dehydrogenase 5 family member A1 | Ofte (30–79 %) | I 1 tilstand |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Ofte (30–79 %) | I 2 tilstande |
| ARSAarylsulfatase A | Ofte (30–79 %) | I 4 tilstande |
| ATN1atrophin 1 | Ofte (30–79 %) | I 1 tilstand |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Ofte (30–79 %) | I 1 tilstand |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Ofte (30–79 %) | I 1 tilstand |
| ATP6V1AATPase H+ transporting V1 subunit A | Ofte (30–79 %) | I 1 tilstand |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Ofte (30–79 %) | I 1 tilstand |
| ATXN2ataxin 2 | Ofte (30–79 %) | I 2 tilstande |
| BEAN1brain expressed associated with NEDD4 1 | Ofte (30–79 %) | I 1 tilstand |
| C19orf12chromosome 19 open reading frame 12 | Ofte (30–79 %) | I 2 tilstande |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Ofte (30–79 %) | I 1 tilstand |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Ofte (30–79 %) | I 1 tilstand |
| CACNA1Scalcium voltage-gated channel subunit alpha1 S | Ofte (30–79 %) | I 1 tilstand |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Ofte (30–79 %) | I 1 tilstand |
| CCDC47coiled-coil domain containing 47 | Ofte (30–79 %) | I 1 tilstand |
| CDK19cyclin dependent kinase 19 | Ofte (30–79 %) | I 1 tilstand |
| CELF2CUGBP Elav-like family member 2 | Ofte (30–79 %) | I 1 tilstand |
| CFL2cofilin 2 | Ofte (30–79 %) | I 1 tilstand |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Ofte (30–79 %) | I 4 tilstande |
| CLTCclathrin heavy chain | Ofte (30–79 %) | I 1 tilstand |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Ofte (30–79 %) | I 1 tilstand |
| CNTNAP2contactin associated protein 2 | Ofte (30–79 %) | I 2 tilstande |
| COG7component of oligomeric golgi complex 7 | Ofte (30–79 %) | I 2 tilstande |
| COL13A1collagen type XIII alpha 1 chain | Ofte (30–79 %) | I 1 tilstand |
| COLQcollagen like tail subunit of asymmetric acetylcholinesterase | Ofte (30–79 %) | I 1 tilstand |
| CRYABcrystallin alpha B | Ofte (30–79 %) | I 1 tilstand |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Ofte (30–79 %) | I 1 tilstand |
| DALRD3DALR anticodon binding domain containing 3 | Ofte (30–79 %) | I 1 tilstand |
| DBHdopamine beta-hydroxylase | Ofte (30–79 %) | I 1 tilstand |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Ofte (30–79 %) | I 1 tilstand |
| DGUOKdeoxyguanosine kinase | Ofte (30–79 %) | I 1 tilstand |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Ofte (30–79 %) | I 1 tilstand |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Ofte (30–79 %) | I 1 tilstand |
| DNM1dynamin 1 | Ofte (30–79 %) | I 1 tilstand |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Ofte (30–79 %) | I 1 tilstand |
| EXTL3exostosin like glycosyltransferase 3 | Ofte (30–79 %) | I 1 tilstand |
| FBN1fibrillin 1 | Ofte (30–79 %) | I 1 tilstand |
| FBXO28F-box protein 28 | Ofte (30–79 %) | I 2 tilstande |
| FGF12fibroblast growth factor 12 | Ofte (30–79 %) | I 1 tilstand |
| FMR1fragile X messenger ribonucleoprotein 1 | Ofte (30–79 %) | I 2 tilstande |
| FOXG1forkhead box G1 | Ofte (30–79 %) | I 1 tilstand |
| FZR1fizzy and cell division cycle 20 related 1 | Ofte (30–79 %) | I 2 tilstande |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Ofte (30–79 %) | I 1 tilstand |
| GABRA3gamma-aminobutyric acid type A receptor subunit alpha3 | Ofte (30–79 %) | I 1 tilstand |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Ofte (30–79 %) | I 1 tilstand |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Ofte (30–79 %) | I 1 tilstand |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Ofte (30–79 %) | I 1 tilstand |
| GBE11,4-alpha-glucan branching enzyme 1 | Ofte (30–79 %) | I 1 tilstand |
| GEMIN4gem nuclear organelle associated protein 4 | Ofte (30–79 %) | I 1 tilstand |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Ofte (30–79 %) | I 1 tilstand |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Ofte (30–79 %) | I 1 tilstand |
| HESX1HESX homeobox 1 | Ofte (30–79 %) | I 1 tilstand |
| HMBShydroxymethylbilane synthase | Ofte (30–79 %) | I 1 tilstand |
| HSPG2heparan sulfate proteoglycan 2 | Ofte (30–79 %) | I 2 tilstande |
| KBTBD13kelch repeat and BTB domain containing 13 | Ofte (30–79 %) | I 1 tilstand |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Ofte (30–79 %) | I 1 tilstand |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Ofte (30–79 %) | I 1 tilstand |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Ofte (30–79 %) | I 1 tilstand |
| KCND3potassium voltage-gated channel subfamily D member 3 | Ofte (30–79 %) | I 2 tilstande |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Ofte (30–79 %) | I 1 tilstand |
| KCNJ18potassium inwardly rectifying channel subfamily J member 18 | Ofte (30–79 %) | I 2 tilstande |
| KLHL41kelch like family member 41 | Ofte (30–79 %) | I 3 tilstande |
| LAMB2laminin subunit beta 2 | Ofte (30–79 %) | I 3 tilstande |
| LGI3leucine rich repeat LGI family member 3 | Ofte (30–79 %) | I 1 tilstand |
| LHX3LIM homeobox 3 | Ofte (30–79 %) | I 1 tilstand |
| LHX4LIM homeobox 4 | Ofte (30–79 %) | I 1 tilstand |
| LMOD3leiomodin 3 | Ofte (30–79 %) | I 1 tilstand |
| MAGmyelin associated glycoprotein | Ofte (30–79 %) | I 1 tilstand |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Ofte (30–79 %) | I 1 tilstand |
| MDH2malate dehydrogenase 2 | Ofte (30–79 %) | I 1 tilstand |
| MGME1mitochondrial genome maintenance exonuclease 1 | Ofte (30–79 %) | I 2 tilstande |
| MORC2MORC family CW-type zinc finger 2 | Ofte (30–79 %) | I 2 tilstande |
| MPV17mitochondrial inner membrane protein MPV17 | Ofte (30–79 %) | I 2 tilstande |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Ofte (30–79 %) | I 2 tilstande |
| MT-TEmitochondrially encoded tRNA-Glu (GAA/G) | Ofte (30–79 %) | I 1 tilstand |
| MYH14myosin heavy chain 14 | Ofte (30–79 %) | I 1 tilstand |
| MYPNmyopalladin | Ofte (30–79 %) | I 1 tilstand |
| NAGLUN-acetyl-alpha-glucosaminidase | Ofte (30–79 %) | I 1 tilstand |
| NARS1asparaginyl-tRNA synthetase 1 | Ofte (30–79 %) | I 2 tilstande |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Ofte (30–79 %) | I 1 tilstand |
| NEBnebulin | Ofte (30–79 %) | I 4 tilstande |
| NECAP1NECAP endocytosis associated 1 | Ofte (30–79 %) | I 1 tilstand |
| NEFLneurofilament light chain | Ofte (30–79 %) | I 4 tilstande |
| NGLY1N-glycanase 1 | Ofte (30–79 %) | I 2 tilstande |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Ofte (30–79 %) | I 1 tilstand |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Ofte (30–79 %) | I 1 tilstand |
| PACS2phosphofurin acidic cluster sorting protein 2 | Ofte (30–79 %) | I 1 tilstand |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| PDHBpyruvate dehydrogenase E1 subunit beta | Ofte (30–79 %) | I 1 tilstand |
| PEX5peroxisomal biogenesis factor 5 | Ofte (30–79 %) | I 1 tilstand |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Ofte (30–79 %) | I 2 tilstande |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Ofte (30–79 %) | I 2 tilstande |
| PLP1proteolipid protein 1 | Ofte (30–79 %) | I 1 tilstand |
| PMM2phosphomannomutase 2 | Ofte (30–79 %) | I 2 tilstande |
| PODXLpodocalyxin like | Ofte (30–79 %) | I 1 tilstand |
| POLGDNA polymerase gamma, catalytic subunit | Ofte (30–79 %) | I 6 tilstande |
| POU1F1POU class 1 homeobox 1 | Ofte (30–79 %) | I 1 tilstand |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| PRDM13PR/SET domain 13 | Ofte (30–79 %) | I 2 tilstande |
| PROP1PROP paired-like homeobox 1 | Ofte (30–79 %) | I 1 tilstand |
| QRICH1glutamine rich 1 | Ofte (30–79 %) | I 1 tilstand |
| RFC1replication factor C subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| RMND1required for meiotic nuclear division 1 homolog | Ofte (30–79 %) | I 1 tilstand |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Ofte (30–79 %) | I 1 tilstand |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Ofte (30–79 %) | I 1 tilstand |
| SCYL1SCY1 like pseudokinase 1 | Ofte (30–79 %) | I 2 tilstande |
| SELENONselenoprotein N | Ofte (30–79 %) | I 1 tilstand |
| SLC13A5solute carrier family 13 member 5 | Ofte (30–79 %) | I 1 tilstand |
| SLC1A2solute carrier family 1 member 2 | Ofte (30–79 %) | I 1 tilstand |
| SLC25A1solute carrier family 25 member 1 | Ofte (30–79 %) | I 1 tilstand |
| SLC25A4solute carrier family 25 member 4 | Ofte (30–79 %) | I 2 tilstande |
| SLC38A3solute carrier family 38 member 3 | Ofte (30–79 %) | I 1 tilstand |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Ofte (30–79 %) | I 2 tilstande |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Ofte (30–79 %) | I 1 tilstand |
| SYNJ1synaptojanin 1 | Ofte (30–79 %) | I 2 tilstande |
| SZT2SZT2 subunit of KICSTOR complex | Ofte (30–79 %) | I 2 tilstande |
| TBC1D24TBC1 domain family member 24 | Ofte (30–79 %) | I 2 tilstande |
| TPM2tropomyosin 2 | Ofte (30–79 %) | I 3 tilstande |
| TPM3tropomyosin 3 | Ofte (30–79 %) | I 2 tilstande |
| TRAK1trafficking kinesin protein 1 | Ofte (30–79 %) | I 1 tilstand |
| TRAPPC11trafficking protein particle complex subunit 11 | Ofte (30–79 %) | I 1 tilstand |
| TRMT5tRNA methyltransferase 5 | Ofte (30–79 %) | I 1 tilstand |
| TRMUtRNA mitochondrial 2-thiouridylase | Ofte (30–79 %) | I 1 tilstand |
| TSHBthyroid stimulating hormone subunit beta | Ofte (30–79 %) | I 1 tilstand |
| TSPYL1TSPY like 1 | Ofte (30–79 %) | I 1 tilstand |
| TWNKtwinkle mtDNA helicase | Ofte (30–79 %) | I 5 tilstande |
| UBA5ubiquitin like modifier activating enzyme 5 | Ofte (30–79 %) | I 1 tilstand |
| UFSP2UFM1 specific peptidase 2 | Ofte (30–79 %) | I 1 tilstand |
| VPS13Avacuolar protein sorting 13 homolog A | Ofte (30–79 %) | I 1 tilstand |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Ofte (30–79 %) | I 2 tilstande |
| VWA1von Willebrand factor A domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Ofte (30–79 %) | I 1 tilstand |
| ACAT1acetyl-CoA acetyltransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Nogle gange (5–29 %) | I 1 tilstand |
| ACO2aconitase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ANXA11annexin A11 | Nogle gange (5–29 %) | I 1 tilstand |
| ATXN1ataxin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ATXN10ataxin 10 | Nogle gange (5–29 %) | I 1 tilstand |
| BICD2BICD cargo adaptor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CARS1cysteinyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Nogle gange (5–29 %) | I 2 tilstande |
| DBR1debranching RNA lariats 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DHX30DExH-box helicase 30 | Nogle gange (5–29 %) | I 1 tilstand |
| DKC1dyskerin pseudouridine synthase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DUOX2dual oxidase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| DUOXA2dual oxidase maturation factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Nogle gange (5–29 %) | I 2 tilstande |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Nogle gange (5–29 %) | I 1 tilstand |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Nogle gange (5–29 %) | I 1 tilstand |
| FUSFUS RNA binding protein | Nogle gange (5–29 %) | I 2 tilstande |
| GALCgalactosylceramidase | Nogle gange (5–29 %) | I 1 tilstand |
| GBA1glucosylceramidase beta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GBF1golgi brefeldin A resistant guanine nucleotide exchange factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GNASGNAS complex locus | Nogle gange (5–29 %) | I 3 tilstande |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Nogle gange (5–29 %) | I 1 tilstand |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Nogle gange (5–29 %) | I 2 tilstande |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2E2general transcription factor IIE subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2H5general transcription factor IIH subunit 5 | Nogle gange (5–29 %) | I 1 tilstand |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Nogle gange (5–29 %) | I 2 tilstande |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Nogle gange (5–29 %) | I 1 tilstand |
| IYDiodotyrosine deiodinase | Nogle gange (5–29 %) | I 1 tilstand |
| MCM3APminichromosome maintenance complex component 3 associated protein | Nogle gange (5–29 %) | I 1 tilstand |
| MPLKIPM-phase specific PLK1 interacting protein | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Nogle gange (5–29 %) | I 1 tilstand |
| MTPAPmitochondrial poly(A) polymerase | Nogle gange (5–29 %) | I 1 tilstand |
| PARNpoly(A)-specific ribonuclease | Nogle gange (5–29 %) | I 1 tilstand |
| PEX1peroxisomal biogenesis factor 1 | Nogle gange (5–29 %) | I 2 tilstande |
| PEX10peroxisomal biogenesis factor 10 | Nogle gange (5–29 %) | I 1 tilstand |
| PEX6peroxisomal biogenesis factor 6 | Nogle gange (5–29 %) | I 1 tilstand |
| PGBD5piggyBac transposable element derived 5 | Nogle gange (5–29 %) | I 1 tilstand |
| PHKA1phosphorylase kinase regulatory subunit alpha 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PHKG1phosphorylase kinase catalytic subunit gamma 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Nogle gange (5–29 %) | I 1 tilstand |
| PIK3R5phosphoinositide-3-kinase regulatory subunit 5 | Nogle gange (5–29 %) | I 1 tilstand |
| PMPCApeptidase, mitochondrial processing subunit alpha | Nogle gange (5–29 %) | I 1 tilstand |
| PNKPpolynucleotide kinase 3'-phosphatase | Nogle gange (5–29 %) | I 2 tilstande |
| POLG2DNA polymerase gamma 2, accessory subunit | Nogle gange (5–29 %) | I 1 tilstand |
| POLR3BRNA polymerase III subunit B | Nogle gange (5–29 %) | I 1 tilstand |
| PPOXprotoporphyrinogen oxidase | Nogle gange (5–29 %) | I 1 tilstand |
| PRDM12PR/SET domain 12 | Nogle gange (5–29 %) | I 1 tilstand |
| RNASEH1ribonuclease H1 | Nogle gange (5–29 %) | I 1 tilstand |
| RNF113Aring finger protein 113A | Nogle gange (5–29 %) | I 1 tilstand |
| RRM1ribonucleotide reductase catalytic subunit M1 | Nogle gange (5–29 %) | I 1 tilstand |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Nogle gange (5–29 %) | I 2 tilstande |
| RTEL1regulator of telomere elongation helicase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SEPTIN9septin 9 | Nogle gange (5–29 %) | I 1 tilstand |
| SETXsenataxin | Nogle gange (5–29 %) | I 1 tilstand |
| SIL1SIL1 nucleotide exchange factor | Nogle gange (5–29 %) | I 1 tilstand |
| SLC5A5solute carrier family 5 member 5 | Nogle gange (5–29 %) | I 1 tilstand |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Nogle gange (5–29 %) | I 1 tilstand |
| SQSTM1sequestosome 1 | Nogle gange (5–29 %) | I 2 tilstande |
| STX16syntaxin 16 | Nogle gange (5–29 %) | I 1 tilstand |
| TAOK1TAO kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TARDBPTAR DNA binding protein | Nogle gange (5–29 %) | I 1 tilstand |
| TARS1threonyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TBK1TANK binding kinase 1 | Nogle gange (5–29 %) | I 2 tilstande |
| TERCtelomerase RNA component | Nogle gange (5–29 %) | I 1 tilstand |
| TERTtelomerase reverse transcriptase | Nogle gange (5–29 %) | I 1 tilstand |
| TGthyroglobulin | Nogle gange (5–29 %) | I 1 tilstand |
| TINF2TERF1 interacting nuclear factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TK2thymidine kinase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TOP3ADNA topoisomerase III alpha | Nogle gange (5–29 %) | I 1 tilstand |
| TPOthyroid peroxidase | Nogle gange (5–29 %) | I 1 tilstand |
| TRIM8tripartite motif containing 8 | Nogle gange (5–29 %) | I 1 tilstand |
| TSEN15tRNA splicing endonuclease subunit 15 | Nogle gange (5–29 %) | I 1 tilstand |
| TSHRthyroid stimulating hormone receptor | Nogle gange (5–29 %) | I 1 tilstand |
| VCPvalosin containing protein | Nogle gange (5–29 %) | I 1 tilstand |
| WDR83OSWD repeat domain 83 opposite strand | Nogle gange (5–29 %) | I 1 tilstand |
| ZSWIM6zinc finger SWIM-type containing 6 | Nogle gange (5–29 %) | I 1 tilstand |
| B4GALNT1beta-1,4-N-acetyl-galactosaminyltransferase 1 | Sjældent (1–4%) | I 2 tilstande |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Sjældent (1–4%) | I 1 tilstand |
| PTF1Apancreas associated transcription factor 1a | Sjældent (1–4%) | I 1 tilstand |
| ABCA1ATP binding cassette subfamily A member 1 | Ikke registreret | I 1 tilstand |
| ABHD12abhydrolase domain containing 12, lysophospholipase | Ikke registreret | I 1 tilstand |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Ikke registreret | I 1 tilstand |
| APTXaprataxin | Ikke registreret | I 1 tilstand |
| ATP1A1ATPase Na+/K+ transporting subunit alpha 1 | Ikke registreret | I 1 tilstand |
| ATP7AATPase copper transporting alpha | Ikke registreret | I 1 tilstand |
| BAG3BAG cochaperone 3 | Ikke registreret | I 1 tilstand |
| BSNDbarttin CLCNK type accessory subunit beta | Ikke registreret | I 1 tilstand |
| CLCNKAchloride voltage-gated channel Ka | Ikke registreret | I 1 tilstand |
| CLCNKBchloride voltage-gated channel Kb | Ikke registreret | I 1 tilstand |
| CNTNAP1contactin associated protein 1 | Ikke registreret | I 1 tilstand |
| COASYCoenzyme A synthase | Ikke registreret | I 1 tilstand |
| COX6A1cytochrome c oxidase subunit 6A1 | Ikke registreret | I 1 tilstand |
| DCAF8DDB1 and CUL4 associated factor 8 | Ikke registreret | I 1 tilstand |
| DMDdystrophin | Ikke registreret | I 2 tilstande |
| DNM2dynamin 2 | Ikke registreret | I 1 tilstand |
| DNMT1DNA methyltransferase 1 | Ikke registreret | I 1 tilstand |
| DOCK3dedicator of cytokinesis 3 | Ikke registreret | I 1 tilstand |
| EGR2early growth response 2 | Ikke registreret | I 1 tilstand |
| FDX2ferredoxin 2 | Ikke registreret | I 1 tilstand |
| FGD4FYVE, RhoGEF and PH domain containing 4 | Ikke registreret | I 1 tilstand |
| FIG4FIG4 phosphoinositide 5-phosphatase | Ikke registreret | I 1 tilstand |
| FLNCfilamin C | Ikke registreret | I 1 tilstand |
| GARS1glycyl-tRNA synthetase 1 | Ikke registreret | I 1 tilstand |
| GJB1gap junction protein beta 1 | Ikke registreret | I 1 tilstand |
| GLDCglycine decarboxylase | Ikke registreret | I 1 tilstand |
| GNB4G protein subunit beta 4 | Ikke registreret | I 1 tilstand |
| HDAC4histone deacetylase 4 | Ikke registreret | I 1 tilstand |
| HK1hexokinase 1 | Ikke registreret | I 1 tilstand |
| HNRNPDLheterogeneous nuclear ribonucleoprotein D like | Ikke registreret | I 1 tilstand |
| HSPB8heat shock protein family B (small) member 8 | Ikke registreret | I 1 tilstand |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Ikke registreret | I 1 tilstand |
| IGHMBP2immunoglobulin mu DNA binding protein 2 | Ikke registreret | I 2 tilstande |
| INF2inverted formin 2 | Ikke registreret | I 1 tilstand |
| KARS1lysyl-tRNA synthetase 1 | Ikke registreret | I 1 tilstand |
| KIAA0586KIAA0586 | Ikke registreret | I 1 tilstand |
| KIF1Akinesin family member 1A | Ikke registreret | I 2 tilstande |
| KIF1Bkinesin family member 1B | Ikke registreret | I 1 tilstand |
| LITAFlipopolysaccharide induced TNF factor | Ikke registreret | I 1 tilstand |
| LMNAlamin A/C | Ikke registreret | I 1 tilstand |
| LRSAM1leucine rich repeat and sterile alpha motif containing 1 | Ikke registreret | I 1 tilstand |
| LYSTlysosomal trafficking regulator | Ikke registreret | I 1 tilstand |
| MED25mediator complex subunit 25 | Ikke registreret | I 1 tilstand |
| MEGF10multiple EGF like domains 10 | Ikke registreret | I 1 tilstand |
| MRE11MRE11 double strand break repair nuclease | Ikke registreret | I 1 tilstand |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Ikke registreret | I 1 tilstand |
| NDRG1N-myc downstream regulated 1 | Ikke registreret | I 1 tilstand |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Ikke registreret | I 1 tilstand |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Ikke registreret | I 1 tilstand |
| NEFHneurofilament heavy chain | Ikke registreret | I 1 tilstand |
| NFASCneurofascin | Ikke registreret | I 1 tilstand |
| PEX12peroxisomal biogenesis factor 12 | Ikke registreret | I 1 tilstand |
| PEX2peroxisomal biogenesis factor 2 | Ikke registreret | I 1 tilstand |
| PEX7peroxisomal biogenesis factor 7 | Ikke registreret | I 1 tilstand |
| PGM3phosphoglucomutase 3 | Ikke registreret | I 1 tilstand |
| PHYHphytanoyl-CoA 2-hydroxylase | Ikke registreret | I 1 tilstand |
| PRXperiaxin | Ikke registreret | I 1 tilstand |
| PTRH2peptidyl-tRNA hydrolase 2 | Ikke registreret | I 1 tilstand |
| RAB7ARAB7A, member RAS oncogene family | Ikke registreret | I 1 tilstand |
| RETREG1reticulophagy regulator 1 | Ikke registreret | I 2 tilstande |
| SBF2SET binding factor 2 | Ikke registreret | I 1 tilstand |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Ikke registreret | I 1 tilstand |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Ikke registreret | I 1 tilstand |
| SLC25A19solute carrier family 25 member 19 | Ikke registreret | I 1 tilstand |
| SLC35A1solute carrier family 35 member A1 | Ikke registreret | I 1 tilstand |
| SLC5A7solute carrier family 5 member 7 | Ikke registreret | I 1 tilstand |
| SMN1survival of motor neuron 1, telomeric | Ikke registreret | I 1 tilstand |
| SMN2survival of motor neuron 2, centromeric | Ikke registreret | I 1 tilstand |
| SMPD1sphingomyelin phosphodiesterase 1 | Ikke registreret | I 1 tilstand |
| SOX10SRY-box transcription factor 10 | Ikke registreret | I 1 tilstand |
| STAC3SH3 and cysteine rich domain 3 | Ikke registreret | I 1 tilstand |
| SYT2synaptotagmin 2 | Ikke registreret | I 1 tilstand |
| TBC1D23TBC1 domain family member 23 | Ikke registreret | I 1 tilstand |
| TMEM240transmembrane protein 240 | Ikke registreret | I 1 tilstand |
| TPI1triosephosphate isomerase 1 | Ikke registreret | I 1 tilstand |
| TRIM32tripartite motif containing 32 | Ikke registreret | I 1 tilstand |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Ikke registreret | I 3 tilstande |
| TTRtransthyretin | Ikke registreret | I 1 tilstand |
| WARS1tryptophanyl-tRNA synthetase 1 | Ikke registreret | I 1 tilstand |
| WDR81WD repeat domain 81 | Ikke registreret | I 1 tilstand |
| WNK1WNK lysine deficient protein kinase 1 | Ikke registreret | I 1 tilstand |
| XPAXPA, DNA damage recognition and repair factor | Ikke registreret | I 1 tilstand |
| ZFHX3zinc finger homeobox 3 | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
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Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger