Požymis
Decreased reflex response
Klinikinis pavadinimas: Hyporeflexia
Reduction of neurologic reflexes such as the knee-jerk reaction.
Santrauka
- Taip pat vadinama
- Decreased reflexes
- Kūno sistema
- Abnormality of the nervous system
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
Read the genes linked to Decreased reflex response, and the rest of your genome, with one test.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites
Įsigyti savo Genome Test395 genų susiję su Decreased reflex response
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Decreased reflex response. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| ARHGEF2Rho/Rac guanine nucleotide exchange factor 2 | Visada | 1 ligoje |
| ATP6AP2ATPase H+ transporting accessory protein 2 | Visada | 1 ligoje |
| CNBPCCHC-type zinc finger nucleic acid binding protein | Visada | 1 ligoje |
| COA7cytochrome c oxidase assembly factor 7 | Visada | 1 ligoje |
| COX8Acytochrome c oxidase subunit 8A | Visada | 1 ligoje |
| CPT1Acarnitine palmitoyltransferase 1A | Visada | 1 ligoje |
| DHHdesert hedgehog signaling molecule | Visada | 1 ligoje |
| DHTKD1dehydrogenase E1 and transketolase domain containing 1 | Visada | 1 ligoje |
| DYNC1H1dynein cytoplasmic 1 heavy chain 1 | Visada | 2 ligose |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Visada | 1 ligoje |
| EXOSC1exosome component 1 | Visada | 1 ligoje |
| GAAalpha glucosidase | Visada | 1 ligoje |
| GDAP1ganglioside induced differentiation associated protein 1 | Visada | 2 ligose |
| GTPBP2GTP binding protein 2 | Visada | 1 ligoje |
| HMGCR3-hydroxy-3-methylglutaryl-CoA reductase | Visada | 1 ligoje |
| KDM6Blysine demethylase 6B | Visada | 1 ligoje |
| KYkyphoscoliosis peptidase | Visada | 1 ligoje |
| LPIN1lipin 1 | Visada | 1 ligoje |
| LRP4LDL receptor related protein 4 | Visada | 1 ligoje |
| LRRC7leucine rich repeat containing 7 | Visada | 1 ligoje |
| LRRK1leucine rich repeat kinase 1 | Visada | 1 ligoje |
| MFN2mitofusin 2 | Visada | 3 ligose |
| MMEmembrane metalloendopeptidase | Visada | 3 ligose |
| MPZmyelin protein zero | Visada | 7 ligose |
| MYH7myosin heavy chain 7 | Visada | 1 ligoje |
| NAV3neuron navigator 3 | Visada | 1 ligoje |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Visada | 1 ligoje |
| NOTCH2NLCnotch 2 N-terminal like C | Visada | 2 ligose |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Visada | 1 ligoje |
| PMP22peripheral myelin protein 22 | Visada | 8 ligose |
| PNPLA6patatin like domain 6, lysophospholipase | Visada | 2 ligose |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Visada | 1 ligoje |
| POMKprotein O-mannose kinase | Visada | 2 ligose |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Visada | 1 ligoje |
| PSAPprosaposin | Visada | 6 ligose |
| PUM1pumilio RNA binding family member 1 | Visada | 1 ligoje |
| PYROXD1pyridine nucleotide-disulphide oxidoreductase domain 1 | Visada | 1 ligoje |
| RAP1GDS1Rap1 GTPase-GDP dissociation stimulator 1 | Visada | 1 ligoje |
| REEP1receptor accessory protein 1 | Visada | 1 ligoje |
| RNF170ring finger protein 170 | Visada | 1 ligoje |
Rodyti dar 355 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| SNIP1Smad nuclear interacting protein 1 | Visada | 1 ligoje |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Visada | 2 ligose |
| TRIM63tripartite motif containing 63 | Visada | 1 ligoje |
| UBAP2Lubiquitin associated protein 2 like | Visada | 1 ligoje |
| UNC13Aunc-13 homolog A | Visada | 1 ligoje |
| VAPBVAMP associated protein B and C | Visada | 1 ligoje |
| WWOXWW domain containing oxidoreductase | Visada | 2 ligose |
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Labai dažnai (80–99%) | 1 ligoje |
| ARandrogen receptor | Labai dažnai (80–99%) | 2 ligose |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Labai dažnai (80–99%) | 1 ligoje |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Labai dažnai (80–99%) | 1 ligoje |
| COL4A1collagen type IV alpha 1 chain | Labai dažnai (80–99%) | 1 ligoje |
| CRPPACDP-L-ribitol pyrophosphorylase A | Labai dažnai (80–99%) | 1 ligoje |
| DAG1dystroglycan 1 | Labai dažnai (80–99%) | 1 ligoje |
| ELOVL4ELOVL fatty acid elongase 4 | Labai dažnai (80–99%) | 2 ligose |
| ELP1elongator acetyltransferase complex subunit 1 | Labai dažnai (80–99%) | 2 ligose |
| EMC1ER membrane protein complex subunit 1 | Labai dažnai (80–99%) | 2 ligose |
| EXOSC3exosome component 3 | Labai dažnai (80–99%) | 1 ligoje |
| EXOSC8exosome component 8 | Labai dažnai (80–99%) | 1 ligoje |
| EXOSC9exosome component 9 | Labai dažnai (80–99%) | 2 ligose |
| FHL1four and a half LIM domains 1 | Labai dažnai (80–99%) | 3 ligose |
| FKRPfukutin related protein | Labai dažnai (80–99%) | 2 ligose |
| FKTNfukutin | Labai dažnai (80–99%) | 2 ligose |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Labai dažnai (80–99%) | 1 ligoje |
| MYOTmyotilin | Labai dažnai (80–99%) | 1 ligoje |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Labai dažnai (80–99%) | 1 ligoje |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Labai dažnai (80–99%) | 1 ligoje |
| POMT1protein O-mannosyltransferase 1 | Labai dažnai (80–99%) | 1 ligoje |
| POMT2protein O-mannosyltransferase 2 | Labai dažnai (80–99%) | 2 ligose |
| RAI1retinoic acid induced 1 | Labai dažnai (80–99%) | 2 ligose |
| RUBCNrubicon autophagy regulator | Labai dažnai (80–99%) | 1 ligoje |
| RXYLT1ribitol xylosyltransferase 1 | Labai dažnai (80–99%) | 1 ligoje |
| RYR1ryanodine receptor 1 | Labai dažnai (80–99%) | 2 ligose |
| SCO2synthesis of cytochrome C oxidase 2 | Labai dažnai (80–99%) | 1 ligoje |
| SLC25A46solute carrier family 25 member 46 | Labai dažnai (80–99%) | 2 ligose |
| SNX14sorting nexin 14 | Labai dažnai (80–99%) | 2 ligose |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Labai dažnai (80–99%) | 2 ligose |
| TBCKTBC1 domain containing kinase | Labai dažnai (80–99%) | 1 ligoje |
| TMCO1transmembrane and coiled-coil domains 1 | Labai dažnai (80–99%) | 1 ligoje |
| TUBA8tubulin alpha 8 | Labai dažnai (80–99%) | 1 ligoje |
| VRK1VRK serine/threonine kinase 1 | Labai dažnai (80–99%) | 2 ligose |
| AARS1alanyl-tRNA synthetase 1 | Dažnai (30–79%) | 3 ligose |
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Dažnai (30–79%) | 1 ligoje |
| ACTA1actin alpha 1, skeletal muscle | Dažnai (30–79%) | 6 ligose |
| ACTL6Bactin like 6B | Dažnai (30–79%) | 1 ligoje |
| ALDH5A1aldehyde dehydrogenase 5 family member A1 | Dažnai (30–79%) | 1 ligoje |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Dažnai (30–79%) | 2 ligose |
| ARSAarylsulfatase A | Dažnai (30–79%) | 4 ligose |
| ATN1atrophin 1 | Dažnai (30–79%) | 1 ligoje |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Dažnai (30–79%) | 1 ligoje |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Dažnai (30–79%) | 1 ligoje |
| ATP6V1AATPase H+ transporting V1 subunit A | Dažnai (30–79%) | 1 ligoje |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Dažnai (30–79%) | 1 ligoje |
| ATXN2ataxin 2 | Dažnai (30–79%) | 2 ligose |
| BEAN1brain expressed associated with NEDD4 1 | Dažnai (30–79%) | 1 ligoje |
| C19orf12chromosome 19 open reading frame 12 | Dažnai (30–79%) | 2 ligose |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Dažnai (30–79%) | 1 ligoje |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Dažnai (30–79%) | 1 ligoje |
| CACNA1Scalcium voltage-gated channel subunit alpha1 S | Dažnai (30–79%) | 1 ligoje |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Dažnai (30–79%) | 1 ligoje |
| CCDC47coiled-coil domain containing 47 | Dažnai (30–79%) | 1 ligoje |
| CDK19cyclin dependent kinase 19 | Dažnai (30–79%) | 1 ligoje |
| CELF2CUGBP Elav-like family member 2 | Dažnai (30–79%) | 1 ligoje |
| CFL2cofilin 2 | Dažnai (30–79%) | 1 ligoje |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Dažnai (30–79%) | 4 ligose |
| CLTCclathrin heavy chain | Dažnai (30–79%) | 1 ligoje |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Dažnai (30–79%) | 1 ligoje |
| CNTNAP2contactin associated protein 2 | Dažnai (30–79%) | 2 ligose |
| COG7component of oligomeric golgi complex 7 | Dažnai (30–79%) | 2 ligose |
| COL13A1collagen type XIII alpha 1 chain | Dažnai (30–79%) | 1 ligoje |
| COLQcollagen like tail subunit of asymmetric acetylcholinesterase | Dažnai (30–79%) | 1 ligoje |
| CRYABcrystallin alpha B | Dažnai (30–79%) | 1 ligoje |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Dažnai (30–79%) | 1 ligoje |
| DALRD3DALR anticodon binding domain containing 3 | Dažnai (30–79%) | 1 ligoje |
| DBHdopamine beta-hydroxylase | Dažnai (30–79%) | 1 ligoje |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Dažnai (30–79%) | 1 ligoje |
| DGUOKdeoxyguanosine kinase | Dažnai (30–79%) | 1 ligoje |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Dažnai (30–79%) | 1 ligoje |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Dažnai (30–79%) | 1 ligoje |
| DNM1dynamin 1 | Dažnai (30–79%) | 1 ligoje |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Dažnai (30–79%) | 1 ligoje |
| EXTL3exostosin like glycosyltransferase 3 | Dažnai (30–79%) | 1 ligoje |
| FBN1fibrillin 1 | Dažnai (30–79%) | 1 ligoje |
| FBXO28F-box protein 28 | Dažnai (30–79%) | 2 ligose |
| FGF12fibroblast growth factor 12 | Dažnai (30–79%) | 1 ligoje |
| FMR1fragile X messenger ribonucleoprotein 1 | Dažnai (30–79%) | 2 ligose |
| FOXG1forkhead box G1 | Dažnai (30–79%) | 1 ligoje |
| FZR1fizzy and cell division cycle 20 related 1 | Dažnai (30–79%) | 2 ligose |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Dažnai (30–79%) | 1 ligoje |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Dažnai (30–79%) | 1 ligoje |
| GABRA3gamma-aminobutyric acid type A receptor subunit alpha3 | Dažnai (30–79%) | 1 ligoje |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Dažnai (30–79%) | 1 ligoje |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Dažnai (30–79%) | 1 ligoje |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Dažnai (30–79%) | 1 ligoje |
| GBE11,4-alpha-glucan branching enzyme 1 | Dažnai (30–79%) | 1 ligoje |
| GEMIN4gem nuclear organelle associated protein 4 | Dažnai (30–79%) | 1 ligoje |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Dažnai (30–79%) | 1 ligoje |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Dažnai (30–79%) | 1 ligoje |
| HESX1HESX homeobox 1 | Dažnai (30–79%) | 1 ligoje |
| HMBShydroxymethylbilane synthase | Dažnai (30–79%) | 1 ligoje |
| HSPG2heparan sulfate proteoglycan 2 | Dažnai (30–79%) | 2 ligose |
| KBTBD13kelch repeat and BTB domain containing 13 | Dažnai (30–79%) | 1 ligoje |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Dažnai (30–79%) | 1 ligoje |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Dažnai (30–79%) | 1 ligoje |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Dažnai (30–79%) | 1 ligoje |
| KCND3potassium voltage-gated channel subfamily D member 3 | Dažnai (30–79%) | 2 ligose |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Dažnai (30–79%) | 1 ligoje |
| KCNJ18potassium inwardly rectifying channel subfamily J member 18 | Dažnai (30–79%) | 2 ligose |
| KLHL41kelch like family member 41 | Dažnai (30–79%) | 3 ligose |
| LAMB2laminin subunit beta 2 | Dažnai (30–79%) | 3 ligose |
| LGI3leucine rich repeat LGI family member 3 | Dažnai (30–79%) | 1 ligoje |
| LHX3LIM homeobox 3 | Dažnai (30–79%) | 1 ligoje |
| LHX4LIM homeobox 4 | Dažnai (30–79%) | 1 ligoje |
| LMOD3leiomodin 3 | Dažnai (30–79%) | 1 ligoje |
| MAGmyelin associated glycoprotein | Dažnai (30–79%) | 1 ligoje |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Dažnai (30–79%) | 1 ligoje |
| MDH2malate dehydrogenase 2 | Dažnai (30–79%) | 1 ligoje |
| MGME1mitochondrial genome maintenance exonuclease 1 | Dažnai (30–79%) | 2 ligose |
| MORC2MORC family CW-type zinc finger 2 | Dažnai (30–79%) | 2 ligose |
| MPV17mitochondrial inner membrane protein MPV17 | Dažnai (30–79%) | 2 ligose |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Dažnai (30–79%) | 2 ligose |
| MT-TEmitochondrially encoded tRNA-Glu (GAA/G) | Dažnai (30–79%) | 1 ligoje |
| MYH14myosin heavy chain 14 | Dažnai (30–79%) | 1 ligoje |
| MYPNmyopalladin | Dažnai (30–79%) | 1 ligoje |
| NAGLUN-acetyl-alpha-glucosaminidase | Dažnai (30–79%) | 1 ligoje |
| NARS1asparaginyl-tRNA synthetase 1 | Dažnai (30–79%) | 2 ligose |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Dažnai (30–79%) | 1 ligoje |
| NEBnebulin | Dažnai (30–79%) | 4 ligose |
| NECAP1NECAP endocytosis associated 1 | Dažnai (30–79%) | 1 ligoje |
| NEFLneurofilament light chain | Dažnai (30–79%) | 4 ligose |
| NGLY1N-glycanase 1 | Dažnai (30–79%) | 2 ligose |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Dažnai (30–79%) | 1 ligoje |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Dažnai (30–79%) | 1 ligoje |
| PACS2phosphofurin acidic cluster sorting protein 2 | Dažnai (30–79%) | 1 ligoje |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Dažnai (30–79%) | 1 ligoje |
| PDHBpyruvate dehydrogenase E1 subunit beta | Dažnai (30–79%) | 1 ligoje |
| PEX5peroxisomal biogenesis factor 5 | Dažnai (30–79%) | 1 ligoje |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Dažnai (30–79%) | 2 ligose |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Dažnai (30–79%) | 2 ligose |
| PLP1proteolipid protein 1 | Dažnai (30–79%) | 1 ligoje |
| PMM2phosphomannomutase 2 | Dažnai (30–79%) | 2 ligose |
| PODXLpodocalyxin like | Dažnai (30–79%) | 1 ligoje |
| POLGDNA polymerase gamma, catalytic subunit | Dažnai (30–79%) | 6 ligose |
| POU1F1POU class 1 homeobox 1 | Dažnai (30–79%) | 1 ligoje |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Dažnai (30–79%) | 1 ligoje |
| PRDM13PR/SET domain 13 | Dažnai (30–79%) | 2 ligose |
| PROP1PROP paired-like homeobox 1 | Dažnai (30–79%) | 1 ligoje |
| QRICH1glutamine rich 1 | Dažnai (30–79%) | 1 ligoje |
| RFC1replication factor C subunit 1 | Dažnai (30–79%) | 1 ligoje |
| RMND1required for meiotic nuclear division 1 homolog | Dažnai (30–79%) | 1 ligoje |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Dažnai (30–79%) | 1 ligoje |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Dažnai (30–79%) | 1 ligoje |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Dažnai (30–79%) | 1 ligoje |
| SCYL1SCY1 like pseudokinase 1 | Dažnai (30–79%) | 2 ligose |
| SELENONselenoprotein N | Dažnai (30–79%) | 1 ligoje |
| SLC13A5solute carrier family 13 member 5 | Dažnai (30–79%) | 1 ligoje |
| SLC1A2solute carrier family 1 member 2 | Dažnai (30–79%) | 1 ligoje |
| SLC25A1solute carrier family 25 member 1 | Dažnai (30–79%) | 1 ligoje |
| SLC25A4solute carrier family 25 member 4 | Dažnai (30–79%) | 2 ligose |
| SLC38A3solute carrier family 38 member 3 | Dažnai (30–79%) | 1 ligoje |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Dažnai (30–79%) | 2 ligose |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Dažnai (30–79%) | 1 ligoje |
| SYNJ1synaptojanin 1 | Dažnai (30–79%) | 2 ligose |
| SZT2SZT2 subunit of KICSTOR complex | Dažnai (30–79%) | 2 ligose |
| TBC1D24TBC1 domain family member 24 | Dažnai (30–79%) | 2 ligose |
| TPM2tropomyosin 2 | Dažnai (30–79%) | 3 ligose |
| TPM3tropomyosin 3 | Dažnai (30–79%) | 2 ligose |
| TRAK1trafficking kinesin protein 1 | Dažnai (30–79%) | 1 ligoje |
| TRAPPC11trafficking protein particle complex subunit 11 | Dažnai (30–79%) | 1 ligoje |
| TRMT5tRNA methyltransferase 5 | Dažnai (30–79%) | 1 ligoje |
| TRMUtRNA mitochondrial 2-thiouridylase | Dažnai (30–79%) | 1 ligoje |
| TSHBthyroid stimulating hormone subunit beta | Dažnai (30–79%) | 1 ligoje |
| TSPYL1TSPY like 1 | Dažnai (30–79%) | 1 ligoje |
| TWNKtwinkle mtDNA helicase | Dažnai (30–79%) | 5 ligose |
| UBA5ubiquitin like modifier activating enzyme 5 | Dažnai (30–79%) | 1 ligoje |
| UFSP2UFM1 specific peptidase 2 | Dažnai (30–79%) | 1 ligoje |
| VPS13Avacuolar protein sorting 13 homolog A | Dažnai (30–79%) | 1 ligoje |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Dažnai (30–79%) | 2 ligose |
| VWA1von Willebrand factor A domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Dažnai (30–79%) | 1 ligoje |
| ACAT1acetyl-CoA acetyltransferase 1 | Kartais (5–29%) | 1 ligoje |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Kartais (5–29%) | 1 ligoje |
| ACO2aconitase 2 | Kartais (5–29%) | 1 ligoje |
| ANXA11annexin A11 | Kartais (5–29%) | 1 ligoje |
| ATXN1ataxin 1 | Kartais (5–29%) | 1 ligoje |
| ATXN10ataxin 10 | Kartais (5–29%) | 1 ligoje |
| BICD2BICD cargo adaptor 2 | Kartais (5–29%) | 1 ligoje |
| CARS1cysteinyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Kartais (5–29%) | 2 ligose |
| DBR1debranching RNA lariats 1 | Kartais (5–29%) | 1 ligoje |
| DHX30DExH-box helicase 30 | Kartais (5–29%) | 1 ligoje |
| DKC1dyskerin pseudouridine synthase 1 | Kartais (5–29%) | 1 ligoje |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Kartais (5–29%) | 1 ligoje |
| DUOX2dual oxidase 2 | Kartais (5–29%) | 1 ligoje |
| DUOXA2dual oxidase maturation factor 2 | Kartais (5–29%) | 1 ligoje |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Kartais (5–29%) | 2 ligose |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Kartais (5–29%) | 1 ligoje |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Kartais (5–29%) | 1 ligoje |
| FUSFUS RNA binding protein | Kartais (5–29%) | 2 ligose |
| GALCgalactosylceramidase | Kartais (5–29%) | 1 ligoje |
| GBA1glucosylceramidase beta 1 | Kartais (5–29%) | 1 ligoje |
| GBF1golgi brefeldin A resistant guanine nucleotide exchange factor 1 | Kartais (5–29%) | 1 ligoje |
| GNASGNAS complex locus | Kartais (5–29%) | 3 ligose |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Kartais (5–29%) | 1 ligoje |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Kartais (5–29%) | 2 ligose |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Kartais (5–29%) | 1 ligoje |
| GTF2E2general transcription factor IIE subunit 2 | Kartais (5–29%) | 1 ligoje |
| GTF2H5general transcription factor IIH subunit 5 | Kartais (5–29%) | 1 ligoje |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Kartais (5–29%) | 2 ligose |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Kartais (5–29%) | 1 ligoje |
| IYDiodotyrosine deiodinase | Kartais (5–29%) | 1 ligoje |
| MCM3APminichromosome maintenance complex component 3 associated protein | Kartais (5–29%) | 1 ligoje |
| MPLKIPM-phase specific PLK1 interacting protein | Kartais (5–29%) | 1 ligoje |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Kartais (5–29%) | 1 ligoje |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Kartais (5–29%) | 1 ligoje |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Kartais (5–29%) | 1 ligoje |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Kartais (5–29%) | 1 ligoje |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Kartais (5–29%) | 1 ligoje |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Kartais (5–29%) | 1 ligoje |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Kartais (5–29%) | 1 ligoje |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Kartais (5–29%) | 1 ligoje |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Kartais (5–29%) | 1 ligoje |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Kartais (5–29%) | 1 ligoje |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Kartais (5–29%) | 1 ligoje |
| MTPAPmitochondrial poly(A) polymerase | Kartais (5–29%) | 1 ligoje |
| PARNpoly(A)-specific ribonuclease | Kartais (5–29%) | 1 ligoje |
| PEX1peroxisomal biogenesis factor 1 | Kartais (5–29%) | 2 ligose |
| PEX10peroxisomal biogenesis factor 10 | Kartais (5–29%) | 1 ligoje |
| PEX6peroxisomal biogenesis factor 6 | Kartais (5–29%) | 1 ligoje |
| PGBD5piggyBac transposable element derived 5 | Kartais (5–29%) | 1 ligoje |
| PHKA1phosphorylase kinase regulatory subunit alpha 1 | Kartais (5–29%) | 1 ligoje |
| PHKG1phosphorylase kinase catalytic subunit gamma 1 | Kartais (5–29%) | 1 ligoje |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Kartais (5–29%) | 1 ligoje |
| PIK3R5phosphoinositide-3-kinase regulatory subunit 5 | Kartais (5–29%) | 1 ligoje |
| PMPCApeptidase, mitochondrial processing subunit alpha | Kartais (5–29%) | 1 ligoje |
| PNKPpolynucleotide kinase 3'-phosphatase | Kartais (5–29%) | 2 ligose |
| POLG2DNA polymerase gamma 2, accessory subunit | Kartais (5–29%) | 1 ligoje |
| POLR3BRNA polymerase III subunit B | Kartais (5–29%) | 1 ligoje |
| PPOXprotoporphyrinogen oxidase | Kartais (5–29%) | 1 ligoje |
| PRDM12PR/SET domain 12 | Kartais (5–29%) | 1 ligoje |
| RNASEH1ribonuclease H1 | Kartais (5–29%) | 1 ligoje |
| RNF113Aring finger protein 113A | Kartais (5–29%) | 1 ligoje |
| RRM1ribonucleotide reductase catalytic subunit M1 | Kartais (5–29%) | 1 ligoje |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Kartais (5–29%) | 2 ligose |
| RTEL1regulator of telomere elongation helicase 1 | Kartais (5–29%) | 1 ligoje |
| SEPTIN9septin 9 | Kartais (5–29%) | 1 ligoje |
| SETXsenataxin | Kartais (5–29%) | 1 ligoje |
| SIL1SIL1 nucleotide exchange factor | Kartais (5–29%) | 1 ligoje |
| SLC5A5solute carrier family 5 member 5 | Kartais (5–29%) | 1 ligoje |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Kartais (5–29%) | 1 ligoje |
| SQSTM1sequestosome 1 | Kartais (5–29%) | 2 ligose |
| STX16syntaxin 16 | Kartais (5–29%) | 1 ligoje |
| TAOK1TAO kinase 1 | Kartais (5–29%) | 1 ligoje |
| TARDBPTAR DNA binding protein | Kartais (5–29%) | 1 ligoje |
| TARS1threonyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| TBK1TANK binding kinase 1 | Kartais (5–29%) | 2 ligose |
| TERCtelomerase RNA component | Kartais (5–29%) | 1 ligoje |
| TERTtelomerase reverse transcriptase | Kartais (5–29%) | 1 ligoje |
| TGthyroglobulin | Kartais (5–29%) | 1 ligoje |
| TINF2TERF1 interacting nuclear factor 2 | Kartais (5–29%) | 1 ligoje |
| TK2thymidine kinase 2 | Kartais (5–29%) | 1 ligoje |
| TOP3ADNA topoisomerase III alpha | Kartais (5–29%) | 1 ligoje |
| TPOthyroid peroxidase | Kartais (5–29%) | 1 ligoje |
| TRIM8tripartite motif containing 8 | Kartais (5–29%) | 1 ligoje |
| TSEN15tRNA splicing endonuclease subunit 15 | Kartais (5–29%) | 1 ligoje |
| TSHRthyroid stimulating hormone receptor | Kartais (5–29%) | 1 ligoje |
| VCPvalosin containing protein | Kartais (5–29%) | 1 ligoje |
| WDR83OSWD repeat domain 83 opposite strand | Kartais (5–29%) | 1 ligoje |
| ZSWIM6zinc finger SWIM-type containing 6 | Kartais (5–29%) | 1 ligoje |
| B4GALNT1beta-1,4-N-acetyl-galactosaminyltransferase 1 | Retai (1–4 %) | 2 ligose |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Retai (1–4 %) | 1 ligoje |
| PTF1Apancreas associated transcription factor 1a | Retai (1–4 %) | 1 ligoje |
| ABCA1ATP binding cassette subfamily A member 1 | Neužfiksuota | 1 ligoje |
| ABHD12abhydrolase domain containing 12, lysophospholipase | Neužfiksuota | 1 ligoje |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Neužfiksuota | 1 ligoje |
| APTXaprataxin | Neužfiksuota | 1 ligoje |
| ATP1A1ATPase Na+/K+ transporting subunit alpha 1 | Neužfiksuota | 1 ligoje |
| ATP7AATPase copper transporting alpha | Neužfiksuota | 1 ligoje |
| BAG3BAG cochaperone 3 | Neužfiksuota | 1 ligoje |
| BSNDbarttin CLCNK type accessory subunit beta | Neužfiksuota | 1 ligoje |
| CLCNKAchloride voltage-gated channel Ka | Neužfiksuota | 1 ligoje |
| CLCNKBchloride voltage-gated channel Kb | Neužfiksuota | 1 ligoje |
| CNTNAP1contactin associated protein 1 | Neužfiksuota | 1 ligoje |
| COASYCoenzyme A synthase | Neužfiksuota | 1 ligoje |
| COX6A1cytochrome c oxidase subunit 6A1 | Neužfiksuota | 1 ligoje |
| DCAF8DDB1 and CUL4 associated factor 8 | Neužfiksuota | 1 ligoje |
| DMDdystrophin | Neužfiksuota | 2 ligose |
| DNM2dynamin 2 | Neužfiksuota | 1 ligoje |
| DNMT1DNA methyltransferase 1 | Neužfiksuota | 1 ligoje |
| DOCK3dedicator of cytokinesis 3 | Neužfiksuota | 1 ligoje |
| EGR2early growth response 2 | Neužfiksuota | 1 ligoje |
| FDX2ferredoxin 2 | Neužfiksuota | 1 ligoje |
| FGD4FYVE, RhoGEF and PH domain containing 4 | Neužfiksuota | 1 ligoje |
| FIG4FIG4 phosphoinositide 5-phosphatase | Neužfiksuota | 1 ligoje |
| FLNCfilamin C | Neužfiksuota | 1 ligoje |
| GARS1glycyl-tRNA synthetase 1 | Neužfiksuota | 1 ligoje |
| GJB1gap junction protein beta 1 | Neužfiksuota | 1 ligoje |
| GLDCglycine decarboxylase | Neužfiksuota | 1 ligoje |
| GNB4G protein subunit beta 4 | Neužfiksuota | 1 ligoje |
| HDAC4histone deacetylase 4 | Neužfiksuota | 1 ligoje |
| HK1hexokinase 1 | Neužfiksuota | 1 ligoje |
| HNRNPDLheterogeneous nuclear ribonucleoprotein D like | Neužfiksuota | 1 ligoje |
| HSPB8heat shock protein family B (small) member 8 | Neužfiksuota | 1 ligoje |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Neužfiksuota | 1 ligoje |
| IGHMBP2immunoglobulin mu DNA binding protein 2 | Neužfiksuota | 2 ligose |
| INF2inverted formin 2 | Neužfiksuota | 1 ligoje |
| KARS1lysyl-tRNA synthetase 1 | Neužfiksuota | 1 ligoje |
| KIAA0586KIAA0586 | Neužfiksuota | 1 ligoje |
| KIF1Akinesin family member 1A | Neužfiksuota | 2 ligose |
| KIF1Bkinesin family member 1B | Neužfiksuota | 1 ligoje |
| LITAFlipopolysaccharide induced TNF factor | Neužfiksuota | 1 ligoje |
| LMNAlamin A/C | Neužfiksuota | 1 ligoje |
| LRSAM1leucine rich repeat and sterile alpha motif containing 1 | Neužfiksuota | 1 ligoje |
| LYSTlysosomal trafficking regulator | Neužfiksuota | 1 ligoje |
| MED25mediator complex subunit 25 | Neužfiksuota | 1 ligoje |
| MEGF10multiple EGF like domains 10 | Neužfiksuota | 1 ligoje |
| MRE11MRE11 double strand break repair nuclease | Neužfiksuota | 1 ligoje |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Neužfiksuota | 1 ligoje |
| NDRG1N-myc downstream regulated 1 | Neužfiksuota | 1 ligoje |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Neužfiksuota | 1 ligoje |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Neužfiksuota | 1 ligoje |
| NEFHneurofilament heavy chain | Neužfiksuota | 1 ligoje |
| NFASCneurofascin | Neužfiksuota | 1 ligoje |
| PEX12peroxisomal biogenesis factor 12 | Neužfiksuota | 1 ligoje |
| PEX2peroxisomal biogenesis factor 2 | Neužfiksuota | 1 ligoje |
| PEX7peroxisomal biogenesis factor 7 | Neužfiksuota | 1 ligoje |
| PGM3phosphoglucomutase 3 | Neužfiksuota | 1 ligoje |
| PHYHphytanoyl-CoA 2-hydroxylase | Neužfiksuota | 1 ligoje |
| PRXperiaxin | Neužfiksuota | 1 ligoje |
| PTRH2peptidyl-tRNA hydrolase 2 | Neužfiksuota | 1 ligoje |
| RAB7ARAB7A, member RAS oncogene family | Neužfiksuota | 1 ligoje |
| RETREG1reticulophagy regulator 1 | Neužfiksuota | 2 ligose |
| SBF2SET binding factor 2 | Neužfiksuota | 1 ligoje |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Neužfiksuota | 1 ligoje |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Neužfiksuota | 1 ligoje |
| SLC25A19solute carrier family 25 member 19 | Neužfiksuota | 1 ligoje |
| SLC35A1solute carrier family 35 member A1 | Neužfiksuota | 1 ligoje |
| SLC5A7solute carrier family 5 member 7 | Neužfiksuota | 1 ligoje |
| SMN1survival of motor neuron 1, telomeric | Neužfiksuota | 1 ligoje |
| SMN2survival of motor neuron 2, centromeric | Neužfiksuota | 1 ligoje |
| SMPD1sphingomyelin phosphodiesterase 1 | Neužfiksuota | 1 ligoje |
| SOX10SRY-box transcription factor 10 | Neužfiksuota | 1 ligoje |
| STAC3SH3 and cysteine rich domain 3 | Neužfiksuota | 1 ligoje |
| SYT2synaptotagmin 2 | Neužfiksuota | 1 ligoje |
| TBC1D23TBC1 domain family member 23 | Neužfiksuota | 1 ligoje |
| TMEM240transmembrane protein 240 | Neužfiksuota | 1 ligoje |
| TPI1triosephosphate isomerase 1 | Neužfiksuota | 1 ligoje |
| TRIM32tripartite motif containing 32 | Neužfiksuota | 1 ligoje |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Neužfiksuota | 3 ligose |
| TTRtransthyretin | Neužfiksuota | 1 ligoje |
| WARS1tryptophanyl-tRNA synthetase 1 | Neužfiksuota | 1 ligoje |
| WDR81WD repeat domain 81 | Neužfiksuota | 1 ligoje |
| WNK1WNK lysine deficient protein kinase 1 | Neužfiksuota | 1 ligoje |
| XPAXPA, DNA damage recognition and repair factor | Neužfiksuota | 1 ligoje |
| ZFHX3zinc finger homeobox 3 | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
Siauresni požymiai
Platesni požymiai
Iš kur tai žinoma
- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.16-c6eea6bf.
Vienas testas. Atsakymai visam gyvenimui.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites