Cecha
Decreased reflex response
Nazwa kliniczna: Hyporeflexia
Reduction of neurologic reflexes such as the knee-jerk reaction.
Podsumowanie
- Znana także jako
- Decreased reflexes
- Układ organizmu
- Abnormality of the nervous system
Genom referencyjnyGRCh38hg38
Pozycje na stronach genów i wariantów zależą od tego wyboru, w tej przeglądarce.
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Zamawiam Genome Test395 genów powiązanych z Decreased reflex response
Zmiany w tych genach powodują rzadkie choroby, w których występuje Decreased reflex response. Większość osób z tą cechą nie ma żadnej z tych chorób, a gen z tej listy nic nie mówi o czyimkolwiek własnym genomie.
| Gen | Jak często występuje | Choroby |
|---|---|---|
| ARHGEF2Rho/Rac guanine nucleotide exchange factor 2 | Zawsze | W 1 chorobie |
| ATP6AP2ATPase H+ transporting accessory protein 2 | Zawsze | W 1 chorobie |
| CNBPCCHC-type zinc finger nucleic acid binding protein | Zawsze | W 1 chorobie |
| COA7cytochrome c oxidase assembly factor 7 | Zawsze | W 1 chorobie |
| COX8Acytochrome c oxidase subunit 8A | Zawsze | W 1 chorobie |
| CPT1Acarnitine palmitoyltransferase 1A | Zawsze | W 1 chorobie |
| DHHdesert hedgehog signaling molecule | Zawsze | W 1 chorobie |
| DHTKD1dehydrogenase E1 and transketolase domain containing 1 | Zawsze | W 1 chorobie |
| DYNC1H1dynein cytoplasmic 1 heavy chain 1 | Zawsze | W 2 chorobach |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Zawsze | W 1 chorobie |
| EXOSC1exosome component 1 | Zawsze | W 1 chorobie |
| GAAalpha glucosidase | Zawsze | W 1 chorobie |
| GDAP1ganglioside induced differentiation associated protein 1 | Zawsze | W 2 chorobach |
| GTPBP2GTP binding protein 2 | Zawsze | W 1 chorobie |
| HMGCR3-hydroxy-3-methylglutaryl-CoA reductase | Zawsze | W 1 chorobie |
| KDM6Blysine demethylase 6B | Zawsze | W 1 chorobie |
| KYkyphoscoliosis peptidase | Zawsze | W 1 chorobie |
| LPIN1lipin 1 | Zawsze | W 1 chorobie |
| LRP4LDL receptor related protein 4 | Zawsze | W 1 chorobie |
| LRRC7leucine rich repeat containing 7 | Zawsze | W 1 chorobie |
| LRRK1leucine rich repeat kinase 1 | Zawsze | W 1 chorobie |
| MFN2mitofusin 2 | Zawsze | W 3 chorobach |
| MMEmembrane metalloendopeptidase | Zawsze | W 3 chorobach |
| MPZmyelin protein zero | Zawsze | W 7 chorobach |
| MYH7myosin heavy chain 7 | Zawsze | W 1 chorobie |
| NAV3neuron navigator 3 | Zawsze | W 1 chorobie |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Zawsze | W 1 chorobie |
| NOTCH2NLCnotch 2 N-terminal like C | Zawsze | W 2 chorobach |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Zawsze | W 1 chorobie |
| PMP22peripheral myelin protein 22 | Zawsze | W 8 chorobach |
| PNPLA6patatin like domain 6, lysophospholipase | Zawsze | W 2 chorobach |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Zawsze | W 1 chorobie |
| POMKprotein O-mannose kinase | Zawsze | W 2 chorobach |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Zawsze | W 1 chorobie |
| PSAPprosaposin | Zawsze | W 6 chorobach |
| PUM1pumilio RNA binding family member 1 | Zawsze | W 1 chorobie |
| PYROXD1pyridine nucleotide-disulphide oxidoreductase domain 1 | Zawsze | W 1 chorobie |
| RAP1GDS1Rap1 GTPase-GDP dissociation stimulator 1 | Zawsze | W 1 chorobie |
| REEP1receptor accessory protein 1 | Zawsze | W 1 chorobie |
| RNF170ring finger protein 170 | Zawsze | W 1 chorobie |
Pokaż jeszcze 355 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| SNIP1Smad nuclear interacting protein 1 | Zawsze | W 1 chorobie |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Zawsze | W 2 chorobach |
| TRIM63tripartite motif containing 63 | Zawsze | W 1 chorobie |
| UBAP2Lubiquitin associated protein 2 like | Zawsze | W 1 chorobie |
| UNC13Aunc-13 homolog A | Zawsze | W 1 chorobie |
| VAPBVAMP associated protein B and C | Zawsze | W 1 chorobie |
| WWOXWW domain containing oxidoreductase | Zawsze | W 2 chorobach |
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Bardzo często (80–99%) | W 1 chorobie |
| ARandrogen receptor | Bardzo często (80–99%) | W 2 chorobach |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Bardzo często (80–99%) | W 1 chorobie |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Bardzo często (80–99%) | W 1 chorobie |
| COL4A1collagen type IV alpha 1 chain | Bardzo często (80–99%) | W 1 chorobie |
| CRPPACDP-L-ribitol pyrophosphorylase A | Bardzo często (80–99%) | W 1 chorobie |
| DAG1dystroglycan 1 | Bardzo często (80–99%) | W 1 chorobie |
| ELOVL4ELOVL fatty acid elongase 4 | Bardzo często (80–99%) | W 2 chorobach |
| ELP1elongator acetyltransferase complex subunit 1 | Bardzo często (80–99%) | W 2 chorobach |
| EMC1ER membrane protein complex subunit 1 | Bardzo często (80–99%) | W 2 chorobach |
| EXOSC3exosome component 3 | Bardzo często (80–99%) | W 1 chorobie |
| EXOSC8exosome component 8 | Bardzo często (80–99%) | W 1 chorobie |
| EXOSC9exosome component 9 | Bardzo często (80–99%) | W 2 chorobach |
| FHL1four and a half LIM domains 1 | Bardzo często (80–99%) | W 3 chorobach |
| FKRPfukutin related protein | Bardzo często (80–99%) | W 2 chorobach |
| FKTNfukutin | Bardzo często (80–99%) | W 2 chorobach |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Bardzo często (80–99%) | W 1 chorobie |
| MYOTmyotilin | Bardzo często (80–99%) | W 1 chorobie |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Bardzo często (80–99%) | W 1 chorobie |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Bardzo często (80–99%) | W 1 chorobie |
| POMT1protein O-mannosyltransferase 1 | Bardzo często (80–99%) | W 1 chorobie |
| POMT2protein O-mannosyltransferase 2 | Bardzo często (80–99%) | W 2 chorobach |
| RAI1retinoic acid induced 1 | Bardzo często (80–99%) | W 2 chorobach |
| RUBCNrubicon autophagy regulator | Bardzo często (80–99%) | W 1 chorobie |
| RXYLT1ribitol xylosyltransferase 1 | Bardzo często (80–99%) | W 1 chorobie |
| RYR1ryanodine receptor 1 | Bardzo często (80–99%) | W 2 chorobach |
| SCO2synthesis of cytochrome C oxidase 2 | Bardzo często (80–99%) | W 1 chorobie |
| SLC25A46solute carrier family 25 member 46 | Bardzo często (80–99%) | W 2 chorobach |
| SNX14sorting nexin 14 | Bardzo często (80–99%) | W 2 chorobach |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Bardzo często (80–99%) | W 2 chorobach |
| TBCKTBC1 domain containing kinase | Bardzo często (80–99%) | W 1 chorobie |
| TMCO1transmembrane and coiled-coil domains 1 | Bardzo często (80–99%) | W 1 chorobie |
| TUBA8tubulin alpha 8 | Bardzo często (80–99%) | W 1 chorobie |
| VRK1VRK serine/threonine kinase 1 | Bardzo często (80–99%) | W 2 chorobach |
| AARS1alanyl-tRNA synthetase 1 | Często (30–79%) | W 3 chorobach |
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Często (30–79%) | W 1 chorobie |
| ACTA1actin alpha 1, skeletal muscle | Często (30–79%) | W 6 chorobach |
| ACTL6Bactin like 6B | Często (30–79%) | W 1 chorobie |
| ALDH5A1aldehyde dehydrogenase 5 family member A1 | Często (30–79%) | W 1 chorobie |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Często (30–79%) | W 2 chorobach |
| ARSAarylsulfatase A | Często (30–79%) | W 4 chorobach |
| ATN1atrophin 1 | Często (30–79%) | W 1 chorobie |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Często (30–79%) | W 1 chorobie |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Często (30–79%) | W 1 chorobie |
| ATP6V1AATPase H+ transporting V1 subunit A | Często (30–79%) | W 1 chorobie |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Często (30–79%) | W 1 chorobie |
| ATXN2ataxin 2 | Często (30–79%) | W 2 chorobach |
| BEAN1brain expressed associated with NEDD4 1 | Często (30–79%) | W 1 chorobie |
| C19orf12chromosome 19 open reading frame 12 | Często (30–79%) | W 2 chorobach |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Często (30–79%) | W 1 chorobie |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Często (30–79%) | W 1 chorobie |
| CACNA1Scalcium voltage-gated channel subunit alpha1 S | Często (30–79%) | W 1 chorobie |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Często (30–79%) | W 1 chorobie |
| CCDC47coiled-coil domain containing 47 | Często (30–79%) | W 1 chorobie |
| CDK19cyclin dependent kinase 19 | Często (30–79%) | W 1 chorobie |
| CELF2CUGBP Elav-like family member 2 | Często (30–79%) | W 1 chorobie |
| CFL2cofilin 2 | Często (30–79%) | W 1 chorobie |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Często (30–79%) | W 4 chorobach |
| CLTCclathrin heavy chain | Często (30–79%) | W 1 chorobie |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Często (30–79%) | W 1 chorobie |
| CNTNAP2contactin associated protein 2 | Często (30–79%) | W 2 chorobach |
| COG7component of oligomeric golgi complex 7 | Często (30–79%) | W 2 chorobach |
| COL13A1collagen type XIII alpha 1 chain | Często (30–79%) | W 1 chorobie |
| COLQcollagen like tail subunit of asymmetric acetylcholinesterase | Często (30–79%) | W 1 chorobie |
| CRYABcrystallin alpha B | Często (30–79%) | W 1 chorobie |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Często (30–79%) | W 1 chorobie |
| DALRD3DALR anticodon binding domain containing 3 | Często (30–79%) | W 1 chorobie |
| DBHdopamine beta-hydroxylase | Często (30–79%) | W 1 chorobie |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Często (30–79%) | W 1 chorobie |
| DGUOKdeoxyguanosine kinase | Często (30–79%) | W 1 chorobie |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Często (30–79%) | W 1 chorobie |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Często (30–79%) | W 1 chorobie |
| DNM1dynamin 1 | Często (30–79%) | W 1 chorobie |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Często (30–79%) | W 1 chorobie |
| EXTL3exostosin like glycosyltransferase 3 | Często (30–79%) | W 1 chorobie |
| FBN1fibrillin 1 | Często (30–79%) | W 1 chorobie |
| FBXO28F-box protein 28 | Często (30–79%) | W 2 chorobach |
| FGF12fibroblast growth factor 12 | Często (30–79%) | W 1 chorobie |
| FMR1fragile X messenger ribonucleoprotein 1 | Często (30–79%) | W 2 chorobach |
| FOXG1forkhead box G1 | Często (30–79%) | W 1 chorobie |
| FZR1fizzy and cell division cycle 20 related 1 | Często (30–79%) | W 2 chorobach |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Często (30–79%) | W 1 chorobie |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Często (30–79%) | W 1 chorobie |
| GABRA3gamma-aminobutyric acid type A receptor subunit alpha3 | Często (30–79%) | W 1 chorobie |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Często (30–79%) | W 1 chorobie |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Często (30–79%) | W 1 chorobie |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Często (30–79%) | W 1 chorobie |
| GBE11,4-alpha-glucan branching enzyme 1 | Często (30–79%) | W 1 chorobie |
| GEMIN4gem nuclear organelle associated protein 4 | Często (30–79%) | W 1 chorobie |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Często (30–79%) | W 1 chorobie |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Często (30–79%) | W 1 chorobie |
| HESX1HESX homeobox 1 | Często (30–79%) | W 1 chorobie |
| HMBShydroxymethylbilane synthase | Często (30–79%) | W 1 chorobie |
| HSPG2heparan sulfate proteoglycan 2 | Często (30–79%) | W 2 chorobach |
| KBTBD13kelch repeat and BTB domain containing 13 | Często (30–79%) | W 1 chorobie |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Często (30–79%) | W 1 chorobie |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Często (30–79%) | W 1 chorobie |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Często (30–79%) | W 1 chorobie |
| KCND3potassium voltage-gated channel subfamily D member 3 | Często (30–79%) | W 2 chorobach |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Często (30–79%) | W 1 chorobie |
| KCNJ18potassium inwardly rectifying channel subfamily J member 18 | Często (30–79%) | W 2 chorobach |
| KLHL41kelch like family member 41 | Często (30–79%) | W 3 chorobach |
| LAMB2laminin subunit beta 2 | Często (30–79%) | W 3 chorobach |
| LGI3leucine rich repeat LGI family member 3 | Często (30–79%) | W 1 chorobie |
| LHX3LIM homeobox 3 | Często (30–79%) | W 1 chorobie |
| LHX4LIM homeobox 4 | Często (30–79%) | W 1 chorobie |
| LMOD3leiomodin 3 | Często (30–79%) | W 1 chorobie |
| MAGmyelin associated glycoprotein | Często (30–79%) | W 1 chorobie |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Często (30–79%) | W 1 chorobie |
| MDH2malate dehydrogenase 2 | Często (30–79%) | W 1 chorobie |
| MGME1mitochondrial genome maintenance exonuclease 1 | Często (30–79%) | W 2 chorobach |
| MORC2MORC family CW-type zinc finger 2 | Często (30–79%) | W 2 chorobach |
| MPV17mitochondrial inner membrane protein MPV17 | Często (30–79%) | W 2 chorobach |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Często (30–79%) | W 2 chorobach |
| MT-TEmitochondrially encoded tRNA-Glu (GAA/G) | Często (30–79%) | W 1 chorobie |
| MYH14myosin heavy chain 14 | Często (30–79%) | W 1 chorobie |
| MYPNmyopalladin | Często (30–79%) | W 1 chorobie |
| NAGLUN-acetyl-alpha-glucosaminidase | Często (30–79%) | W 1 chorobie |
| NARS1asparaginyl-tRNA synthetase 1 | Często (30–79%) | W 2 chorobach |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Często (30–79%) | W 1 chorobie |
| NEBnebulin | Często (30–79%) | W 4 chorobach |
| NECAP1NECAP endocytosis associated 1 | Często (30–79%) | W 1 chorobie |
| NEFLneurofilament light chain | Często (30–79%) | W 4 chorobach |
| NGLY1N-glycanase 1 | Często (30–79%) | W 2 chorobach |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Często (30–79%) | W 1 chorobie |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Często (30–79%) | W 1 chorobie |
| PACS2phosphofurin acidic cluster sorting protein 2 | Często (30–79%) | W 1 chorobie |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Często (30–79%) | W 1 chorobie |
| PDHBpyruvate dehydrogenase E1 subunit beta | Często (30–79%) | W 1 chorobie |
| PEX5peroxisomal biogenesis factor 5 | Często (30–79%) | W 1 chorobie |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Często (30–79%) | W 2 chorobach |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Często (30–79%) | W 2 chorobach |
| PLP1proteolipid protein 1 | Często (30–79%) | W 1 chorobie |
| PMM2phosphomannomutase 2 | Często (30–79%) | W 2 chorobach |
| PODXLpodocalyxin like | Często (30–79%) | W 1 chorobie |
| POLGDNA polymerase gamma, catalytic subunit | Często (30–79%) | W 6 chorobach |
| POU1F1POU class 1 homeobox 1 | Często (30–79%) | W 1 chorobie |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Często (30–79%) | W 1 chorobie |
| PRDM13PR/SET domain 13 | Często (30–79%) | W 2 chorobach |
| PROP1PROP paired-like homeobox 1 | Często (30–79%) | W 1 chorobie |
| QRICH1glutamine rich 1 | Często (30–79%) | W 1 chorobie |
| RFC1replication factor C subunit 1 | Często (30–79%) | W 1 chorobie |
| RMND1required for meiotic nuclear division 1 homolog | Często (30–79%) | W 1 chorobie |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Często (30–79%) | W 1 chorobie |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Często (30–79%) | W 1 chorobie |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Często (30–79%) | W 1 chorobie |
| SCYL1SCY1 like pseudokinase 1 | Często (30–79%) | W 2 chorobach |
| SELENONselenoprotein N | Często (30–79%) | W 1 chorobie |
| SLC13A5solute carrier family 13 member 5 | Często (30–79%) | W 1 chorobie |
| SLC1A2solute carrier family 1 member 2 | Często (30–79%) | W 1 chorobie |
| SLC25A1solute carrier family 25 member 1 | Często (30–79%) | W 1 chorobie |
| SLC25A4solute carrier family 25 member 4 | Często (30–79%) | W 2 chorobach |
| SLC38A3solute carrier family 38 member 3 | Często (30–79%) | W 1 chorobie |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Często (30–79%) | W 2 chorobach |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Często (30–79%) | W 1 chorobie |
| SYNJ1synaptojanin 1 | Często (30–79%) | W 2 chorobach |
| SZT2SZT2 subunit of KICSTOR complex | Często (30–79%) | W 2 chorobach |
| TBC1D24TBC1 domain family member 24 | Często (30–79%) | W 2 chorobach |
| TPM2tropomyosin 2 | Często (30–79%) | W 3 chorobach |
| TPM3tropomyosin 3 | Często (30–79%) | W 2 chorobach |
| TRAK1trafficking kinesin protein 1 | Często (30–79%) | W 1 chorobie |
| TRAPPC11trafficking protein particle complex subunit 11 | Często (30–79%) | W 1 chorobie |
| TRMT5tRNA methyltransferase 5 | Często (30–79%) | W 1 chorobie |
| TRMUtRNA mitochondrial 2-thiouridylase | Często (30–79%) | W 1 chorobie |
| TSHBthyroid stimulating hormone subunit beta | Często (30–79%) | W 1 chorobie |
| TSPYL1TSPY like 1 | Często (30–79%) | W 1 chorobie |
| TWNKtwinkle mtDNA helicase | Często (30–79%) | W 5 chorobach |
| UBA5ubiquitin like modifier activating enzyme 5 | Często (30–79%) | W 1 chorobie |
| UFSP2UFM1 specific peptidase 2 | Często (30–79%) | W 1 chorobie |
| VPS13Avacuolar protein sorting 13 homolog A | Często (30–79%) | W 1 chorobie |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Często (30–79%) | W 2 chorobach |
| VWA1von Willebrand factor A domain containing 1 | Często (30–79%) | W 1 chorobie |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Często (30–79%) | W 1 chorobie |
| ACAT1acetyl-CoA acetyltransferase 1 | Czasami (5–29%) | W 1 chorobie |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Czasami (5–29%) | W 1 chorobie |
| ACO2aconitase 2 | Czasami (5–29%) | W 1 chorobie |
| ANXA11annexin A11 | Czasami (5–29%) | W 1 chorobie |
| ATXN1ataxin 1 | Czasami (5–29%) | W 1 chorobie |
| ATXN10ataxin 10 | Czasami (5–29%) | W 1 chorobie |
| BICD2BICD cargo adaptor 2 | Czasami (5–29%) | W 1 chorobie |
| CARS1cysteinyl-tRNA synthetase 1 | Czasami (5–29%) | W 1 chorobie |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Czasami (5–29%) | W 2 chorobach |
| DBR1debranching RNA lariats 1 | Czasami (5–29%) | W 1 chorobie |
| DHX30DExH-box helicase 30 | Czasami (5–29%) | W 1 chorobie |
| DKC1dyskerin pseudouridine synthase 1 | Czasami (5–29%) | W 1 chorobie |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Czasami (5–29%) | W 1 chorobie |
| DUOX2dual oxidase 2 | Czasami (5–29%) | W 1 chorobie |
| DUOXA2dual oxidase maturation factor 2 | Czasami (5–29%) | W 1 chorobie |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Czasami (5–29%) | W 2 chorobach |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Czasami (5–29%) | W 1 chorobie |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Czasami (5–29%) | W 1 chorobie |
| FUSFUS RNA binding protein | Czasami (5–29%) | W 2 chorobach |
| GALCgalactosylceramidase | Czasami (5–29%) | W 1 chorobie |
| GBA1glucosylceramidase beta 1 | Czasami (5–29%) | W 1 chorobie |
| GBF1golgi brefeldin A resistant guanine nucleotide exchange factor 1 | Czasami (5–29%) | W 1 chorobie |
| GNASGNAS complex locus | Czasami (5–29%) | W 3 chorobach |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Czasami (5–29%) | W 1 chorobie |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Czasami (5–29%) | W 2 chorobach |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Czasami (5–29%) | W 1 chorobie |
| GTF2E2general transcription factor IIE subunit 2 | Czasami (5–29%) | W 1 chorobie |
| GTF2H5general transcription factor IIH subunit 5 | Czasami (5–29%) | W 1 chorobie |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Czasami (5–29%) | W 2 chorobach |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Czasami (5–29%) | W 1 chorobie |
| IYDiodotyrosine deiodinase | Czasami (5–29%) | W 1 chorobie |
| MCM3APminichromosome maintenance complex component 3 associated protein | Czasami (5–29%) | W 1 chorobie |
| MPLKIPM-phase specific PLK1 interacting protein | Czasami (5–29%) | W 1 chorobie |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Czasami (5–29%) | W 1 chorobie |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Czasami (5–29%) | W 1 chorobie |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Czasami (5–29%) | W 1 chorobie |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Czasami (5–29%) | W 1 chorobie |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Czasami (5–29%) | W 1 chorobie |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Czasami (5–29%) | W 1 chorobie |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Czasami (5–29%) | W 1 chorobie |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Czasami (5–29%) | W 1 chorobie |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Czasami (5–29%) | W 1 chorobie |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Czasami (5–29%) | W 1 chorobie |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Czasami (5–29%) | W 1 chorobie |
| MTPAPmitochondrial poly(A) polymerase | Czasami (5–29%) | W 1 chorobie |
| PARNpoly(A)-specific ribonuclease | Czasami (5–29%) | W 1 chorobie |
| PEX1peroxisomal biogenesis factor 1 | Czasami (5–29%) | W 2 chorobach |
| PEX10peroxisomal biogenesis factor 10 | Czasami (5–29%) | W 1 chorobie |
| PEX6peroxisomal biogenesis factor 6 | Czasami (5–29%) | W 1 chorobie |
| PGBD5piggyBac transposable element derived 5 | Czasami (5–29%) | W 1 chorobie |
| PHKA1phosphorylase kinase regulatory subunit alpha 1 | Czasami (5–29%) | W 1 chorobie |
| PHKG1phosphorylase kinase catalytic subunit gamma 1 | Czasami (5–29%) | W 1 chorobie |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Czasami (5–29%) | W 1 chorobie |
| PIK3R5phosphoinositide-3-kinase regulatory subunit 5 | Czasami (5–29%) | W 1 chorobie |
| PMPCApeptidase, mitochondrial processing subunit alpha | Czasami (5–29%) | W 1 chorobie |
| PNKPpolynucleotide kinase 3'-phosphatase | Czasami (5–29%) | W 2 chorobach |
| POLG2DNA polymerase gamma 2, accessory subunit | Czasami (5–29%) | W 1 chorobie |
| POLR3BRNA polymerase III subunit B | Czasami (5–29%) | W 1 chorobie |
| PPOXprotoporphyrinogen oxidase | Czasami (5–29%) | W 1 chorobie |
| PRDM12PR/SET domain 12 | Czasami (5–29%) | W 1 chorobie |
| RNASEH1ribonuclease H1 | Czasami (5–29%) | W 1 chorobie |
| RNF113Aring finger protein 113A | Czasami (5–29%) | W 1 chorobie |
| RRM1ribonucleotide reductase catalytic subunit M1 | Czasami (5–29%) | W 1 chorobie |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Czasami (5–29%) | W 2 chorobach |
| RTEL1regulator of telomere elongation helicase 1 | Czasami (5–29%) | W 1 chorobie |
| SEPTIN9septin 9 | Czasami (5–29%) | W 1 chorobie |
| SETXsenataxin | Czasami (5–29%) | W 1 chorobie |
| SIL1SIL1 nucleotide exchange factor | Czasami (5–29%) | W 1 chorobie |
| SLC5A5solute carrier family 5 member 5 | Czasami (5–29%) | W 1 chorobie |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Czasami (5–29%) | W 1 chorobie |
| SQSTM1sequestosome 1 | Czasami (5–29%) | W 2 chorobach |
| STX16syntaxin 16 | Czasami (5–29%) | W 1 chorobie |
| TAOK1TAO kinase 1 | Czasami (5–29%) | W 1 chorobie |
| TARDBPTAR DNA binding protein | Czasami (5–29%) | W 1 chorobie |
| TARS1threonyl-tRNA synthetase 1 | Czasami (5–29%) | W 1 chorobie |
| TBK1TANK binding kinase 1 | Czasami (5–29%) | W 2 chorobach |
| TERCtelomerase RNA component | Czasami (5–29%) | W 1 chorobie |
| TERTtelomerase reverse transcriptase | Czasami (5–29%) | W 1 chorobie |
| TGthyroglobulin | Czasami (5–29%) | W 1 chorobie |
| TINF2TERF1 interacting nuclear factor 2 | Czasami (5–29%) | W 1 chorobie |
| TK2thymidine kinase 2 | Czasami (5–29%) | W 1 chorobie |
| TOP3ADNA topoisomerase III alpha | Czasami (5–29%) | W 1 chorobie |
| TPOthyroid peroxidase | Czasami (5–29%) | W 1 chorobie |
| TRIM8tripartite motif containing 8 | Czasami (5–29%) | W 1 chorobie |
| TSEN15tRNA splicing endonuclease subunit 15 | Czasami (5–29%) | W 1 chorobie |
| TSHRthyroid stimulating hormone receptor | Czasami (5–29%) | W 1 chorobie |
| VCPvalosin containing protein | Czasami (5–29%) | W 1 chorobie |
| WDR83OSWD repeat domain 83 opposite strand | Czasami (5–29%) | W 1 chorobie |
| ZSWIM6zinc finger SWIM-type containing 6 | Czasami (5–29%) | W 1 chorobie |
| B4GALNT1beta-1,4-N-acetyl-galactosaminyltransferase 1 | Rzadko (1–4%) | W 2 chorobach |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Rzadko (1–4%) | W 1 chorobie |
| PTF1Apancreas associated transcription factor 1a | Rzadko (1–4%) | W 1 chorobie |
| ABCA1ATP binding cassette subfamily A member 1 | Nie odnotowano | W 1 chorobie |
| ABHD12abhydrolase domain containing 12, lysophospholipase | Nie odnotowano | W 1 chorobie |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Nie odnotowano | W 1 chorobie |
| APTXaprataxin | Nie odnotowano | W 1 chorobie |
| ATP1A1ATPase Na+/K+ transporting subunit alpha 1 | Nie odnotowano | W 1 chorobie |
| ATP7AATPase copper transporting alpha | Nie odnotowano | W 1 chorobie |
| BAG3BAG cochaperone 3 | Nie odnotowano | W 1 chorobie |
| BSNDbarttin CLCNK type accessory subunit beta | Nie odnotowano | W 1 chorobie |
| CLCNKAchloride voltage-gated channel Ka | Nie odnotowano | W 1 chorobie |
| CLCNKBchloride voltage-gated channel Kb | Nie odnotowano | W 1 chorobie |
| CNTNAP1contactin associated protein 1 | Nie odnotowano | W 1 chorobie |
| COASYCoenzyme A synthase | Nie odnotowano | W 1 chorobie |
| COX6A1cytochrome c oxidase subunit 6A1 | Nie odnotowano | W 1 chorobie |
| DCAF8DDB1 and CUL4 associated factor 8 | Nie odnotowano | W 1 chorobie |
| DMDdystrophin | Nie odnotowano | W 2 chorobach |
| DNM2dynamin 2 | Nie odnotowano | W 1 chorobie |
| DNMT1DNA methyltransferase 1 | Nie odnotowano | W 1 chorobie |
| DOCK3dedicator of cytokinesis 3 | Nie odnotowano | W 1 chorobie |
| EGR2early growth response 2 | Nie odnotowano | W 1 chorobie |
| FDX2ferredoxin 2 | Nie odnotowano | W 1 chorobie |
| FGD4FYVE, RhoGEF and PH domain containing 4 | Nie odnotowano | W 1 chorobie |
| FIG4FIG4 phosphoinositide 5-phosphatase | Nie odnotowano | W 1 chorobie |
| FLNCfilamin C | Nie odnotowano | W 1 chorobie |
| GARS1glycyl-tRNA synthetase 1 | Nie odnotowano | W 1 chorobie |
| GJB1gap junction protein beta 1 | Nie odnotowano | W 1 chorobie |
| GLDCglycine decarboxylase | Nie odnotowano | W 1 chorobie |
| GNB4G protein subunit beta 4 | Nie odnotowano | W 1 chorobie |
| HDAC4histone deacetylase 4 | Nie odnotowano | W 1 chorobie |
| HK1hexokinase 1 | Nie odnotowano | W 1 chorobie |
| HNRNPDLheterogeneous nuclear ribonucleoprotein D like | Nie odnotowano | W 1 chorobie |
| HSPB8heat shock protein family B (small) member 8 | Nie odnotowano | W 1 chorobie |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Nie odnotowano | W 1 chorobie |
| IGHMBP2immunoglobulin mu DNA binding protein 2 | Nie odnotowano | W 2 chorobach |
| INF2inverted formin 2 | Nie odnotowano | W 1 chorobie |
| KARS1lysyl-tRNA synthetase 1 | Nie odnotowano | W 1 chorobie |
| KIAA0586KIAA0586 | Nie odnotowano | W 1 chorobie |
| KIF1Akinesin family member 1A | Nie odnotowano | W 2 chorobach |
| KIF1Bkinesin family member 1B | Nie odnotowano | W 1 chorobie |
| LITAFlipopolysaccharide induced TNF factor | Nie odnotowano | W 1 chorobie |
| LMNAlamin A/C | Nie odnotowano | W 1 chorobie |
| LRSAM1leucine rich repeat and sterile alpha motif containing 1 | Nie odnotowano | W 1 chorobie |
| LYSTlysosomal trafficking regulator | Nie odnotowano | W 1 chorobie |
| MED25mediator complex subunit 25 | Nie odnotowano | W 1 chorobie |
| MEGF10multiple EGF like domains 10 | Nie odnotowano | W 1 chorobie |
| MRE11MRE11 double strand break repair nuclease | Nie odnotowano | W 1 chorobie |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Nie odnotowano | W 1 chorobie |
| NDRG1N-myc downstream regulated 1 | Nie odnotowano | W 1 chorobie |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Nie odnotowano | W 1 chorobie |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Nie odnotowano | W 1 chorobie |
| NEFHneurofilament heavy chain | Nie odnotowano | W 1 chorobie |
| NFASCneurofascin | Nie odnotowano | W 1 chorobie |
| PEX12peroxisomal biogenesis factor 12 | Nie odnotowano | W 1 chorobie |
| PEX2peroxisomal biogenesis factor 2 | Nie odnotowano | W 1 chorobie |
| PEX7peroxisomal biogenesis factor 7 | Nie odnotowano | W 1 chorobie |
| PGM3phosphoglucomutase 3 | Nie odnotowano | W 1 chorobie |
| PHYHphytanoyl-CoA 2-hydroxylase | Nie odnotowano | W 1 chorobie |
| PRXperiaxin | Nie odnotowano | W 1 chorobie |
| PTRH2peptidyl-tRNA hydrolase 2 | Nie odnotowano | W 1 chorobie |
| RAB7ARAB7A, member RAS oncogene family | Nie odnotowano | W 1 chorobie |
| RETREG1reticulophagy regulator 1 | Nie odnotowano | W 2 chorobach |
| SBF2SET binding factor 2 | Nie odnotowano | W 1 chorobie |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Nie odnotowano | W 1 chorobie |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Nie odnotowano | W 1 chorobie |
| SLC25A19solute carrier family 25 member 19 | Nie odnotowano | W 1 chorobie |
| SLC35A1solute carrier family 35 member A1 | Nie odnotowano | W 1 chorobie |
| SLC5A7solute carrier family 5 member 7 | Nie odnotowano | W 1 chorobie |
| SMN1survival of motor neuron 1, telomeric | Nie odnotowano | W 1 chorobie |
| SMN2survival of motor neuron 2, centromeric | Nie odnotowano | W 1 chorobie |
| SMPD1sphingomyelin phosphodiesterase 1 | Nie odnotowano | W 1 chorobie |
| SOX10SRY-box transcription factor 10 | Nie odnotowano | W 1 chorobie |
| STAC3SH3 and cysteine rich domain 3 | Nie odnotowano | W 1 chorobie |
| SYT2synaptotagmin 2 | Nie odnotowano | W 1 chorobie |
| TBC1D23TBC1 domain family member 23 | Nie odnotowano | W 1 chorobie |
| TMEM240transmembrane protein 240 | Nie odnotowano | W 1 chorobie |
| TPI1triosephosphate isomerase 1 | Nie odnotowano | W 1 chorobie |
| TRIM32tripartite motif containing 32 | Nie odnotowano | W 1 chorobie |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Nie odnotowano | W 3 chorobach |
| TTRtransthyretin | Nie odnotowano | W 1 chorobie |
| WARS1tryptophanyl-tRNA synthetase 1 | Nie odnotowano | W 1 chorobie |
| WDR81WD repeat domain 81 | Nie odnotowano | W 1 chorobie |
| WNK1WNK lysine deficient protein kinase 1 | Nie odnotowano | W 1 chorobie |
| XPAXPA, DNA damage recognition and repair factor | Nie odnotowano | W 1 chorobie |
| ZFHX3zinc finger homeobox 3 | Nie odnotowano | W 1 chorobie |
Jak często występuje wśród osób z jedną z chorób związanych z tym genem, najczęściej spośród wszystkich, według danych Human Phenotype Ontology. Te strony opisują cechy i badania, na których się opierają; nie są diagnozą, a w sprawie objawów należy zwrócić się do lekarza lub doradcy genetycznego.
Cechy podrzędne
Cechy nadrzędne
Skąd pochodzą te dane
- Human Phenotype Ontology, wydanie 2026-09-01: cecha, jej nazwy, definicja oraz geny z nią powiązane. Więcej informacji znajdą Państwo na stronie hpo.jax.org.
- Wydanie danych 2026.10.16-c6eea6bf.
Jeden test. Odpowiedzi na całe życie.
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