Egenskap
Decreased reflex response
Klinisk navn: Hyporeflexia
Reduction of neurologic reflexes such as the knee-jerk reaction.
Sammendrag
- Også kalt
- Decreased reflexes
- Kroppssystem
- Abnormality of the nervous system
ReferansegenomGRCh38hg38
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Endringer i disse genene forårsaker sjeldne tilstander der Decreased reflex response forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ARHGEF2Rho/Rac guanine nucleotide exchange factor 2 | Alltid | I 1 tilstand |
| ATP6AP2ATPase H+ transporting accessory protein 2 | Alltid | I 1 tilstand |
| CNBPCCHC-type zinc finger nucleic acid binding protein | Alltid | I 1 tilstand |
| COA7cytochrome c oxidase assembly factor 7 | Alltid | I 1 tilstand |
| COX8Acytochrome c oxidase subunit 8A | Alltid | I 1 tilstand |
| CPT1Acarnitine palmitoyltransferase 1A | Alltid | I 1 tilstand |
| DHHdesert hedgehog signaling molecule | Alltid | I 1 tilstand |
| DHTKD1dehydrogenase E1 and transketolase domain containing 1 | Alltid | I 1 tilstand |
| DYNC1H1dynein cytoplasmic 1 heavy chain 1 | Alltid | I 2 tilstander |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Alltid | I 1 tilstand |
| EXOSC1exosome component 1 | Alltid | I 1 tilstand |
| GAAalpha glucosidase | Alltid | I 1 tilstand |
| GDAP1ganglioside induced differentiation associated protein 1 | Alltid | I 2 tilstander |
| GTPBP2GTP binding protein 2 | Alltid | I 1 tilstand |
| HMGCR3-hydroxy-3-methylglutaryl-CoA reductase | Alltid | I 1 tilstand |
| KDM6Blysine demethylase 6B | Alltid | I 1 tilstand |
| KYkyphoscoliosis peptidase | Alltid | I 1 tilstand |
| LPIN1lipin 1 | Alltid | I 1 tilstand |
| LRP4LDL receptor related protein 4 | Alltid | I 1 tilstand |
| LRRC7leucine rich repeat containing 7 | Alltid | I 1 tilstand |
| LRRK1leucine rich repeat kinase 1 | Alltid | I 1 tilstand |
| MFN2mitofusin 2 | Alltid | I 3 tilstander |
| MMEmembrane metalloendopeptidase | Alltid | I 3 tilstander |
| MPZmyelin protein zero | Alltid | I 7 tilstander |
| MYH7myosin heavy chain 7 | Alltid | I 1 tilstand |
| NAV3neuron navigator 3 | Alltid | I 1 tilstand |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Alltid | I 1 tilstand |
| NOTCH2NLCnotch 2 N-terminal like C | Alltid | I 2 tilstander |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Alltid | I 1 tilstand |
| PMP22peripheral myelin protein 22 | Alltid | I 8 tilstander |
| PNPLA6patatin like domain 6, lysophospholipase | Alltid | I 2 tilstander |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Alltid | I 1 tilstand |
| POMKprotein O-mannose kinase | Alltid | I 2 tilstander |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Alltid | I 1 tilstand |
| PSAPprosaposin | Alltid | I 6 tilstander |
| PUM1pumilio RNA binding family member 1 | Alltid | I 1 tilstand |
| PYROXD1pyridine nucleotide-disulphide oxidoreductase domain 1 | Alltid | I 1 tilstand |
| RAP1GDS1Rap1 GTPase-GDP dissociation stimulator 1 | Alltid | I 1 tilstand |
| REEP1receptor accessory protein 1 | Alltid | I 1 tilstand |
| RNF170ring finger protein 170 | Alltid | I 1 tilstand |
Vis 355 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| SNIP1Smad nuclear interacting protein 1 | Alltid | I 1 tilstand |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Alltid | I 2 tilstander |
| TRIM63tripartite motif containing 63 | Alltid | I 1 tilstand |
| UBAP2Lubiquitin associated protein 2 like | Alltid | I 1 tilstand |
| UNC13Aunc-13 homolog A | Alltid | I 1 tilstand |
| VAPBVAMP associated protein B and C | Alltid | I 1 tilstand |
| WWOXWW domain containing oxidoreductase | Alltid | I 2 tilstander |
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| ARandrogen receptor | Svært ofte (80–99 %) | I 2 tilstander |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Svært ofte (80–99 %) | I 1 tilstand |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| COL4A1collagen type IV alpha 1 chain | Svært ofte (80–99 %) | I 1 tilstand |
| CRPPACDP-L-ribitol pyrophosphorylase A | Svært ofte (80–99 %) | I 1 tilstand |
| DAG1dystroglycan 1 | Svært ofte (80–99 %) | I 1 tilstand |
| ELOVL4ELOVL fatty acid elongase 4 | Svært ofte (80–99 %) | I 2 tilstander |
| ELP1elongator acetyltransferase complex subunit 1 | Svært ofte (80–99 %) | I 2 tilstander |
| EMC1ER membrane protein complex subunit 1 | Svært ofte (80–99 %) | I 2 tilstander |
| EXOSC3exosome component 3 | Svært ofte (80–99 %) | I 1 tilstand |
| EXOSC8exosome component 8 | Svært ofte (80–99 %) | I 1 tilstand |
| EXOSC9exosome component 9 | Svært ofte (80–99 %) | I 2 tilstander |
| FHL1four and a half LIM domains 1 | Svært ofte (80–99 %) | I 3 tilstander |
| FKRPfukutin related protein | Svært ofte (80–99 %) | I 2 tilstander |
| FKTNfukutin | Svært ofte (80–99 %) | I 2 tilstander |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| MYOTmyotilin | Svært ofte (80–99 %) | I 1 tilstand |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Svært ofte (80–99 %) | I 1 tilstand |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Svært ofte (80–99 %) | I 1 tilstand |
| POMT1protein O-mannosyltransferase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| POMT2protein O-mannosyltransferase 2 | Svært ofte (80–99 %) | I 2 tilstander |
| RAI1retinoic acid induced 1 | Svært ofte (80–99 %) | I 2 tilstander |
| RUBCNrubicon autophagy regulator | Svært ofte (80–99 %) | I 1 tilstand |
| RXYLT1ribitol xylosyltransferase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| RYR1ryanodine receptor 1 | Svært ofte (80–99 %) | I 2 tilstander |
| SCO2synthesis of cytochrome C oxidase 2 | Svært ofte (80–99 %) | I 1 tilstand |
| SLC25A46solute carrier family 25 member 46 | Svært ofte (80–99 %) | I 2 tilstander |
| SNX14sorting nexin 14 | Svært ofte (80–99 %) | I 2 tilstander |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Svært ofte (80–99 %) | I 2 tilstander |
| TBCKTBC1 domain containing kinase | Svært ofte (80–99 %) | I 1 tilstand |
| TMCO1transmembrane and coiled-coil domains 1 | Svært ofte (80–99 %) | I 1 tilstand |
| TUBA8tubulin alpha 8 | Svært ofte (80–99 %) | I 1 tilstand |
| VRK1VRK serine/threonine kinase 1 | Svært ofte (80–99 %) | I 2 tilstander |
| AARS1alanyl-tRNA synthetase 1 | Ofte (30–79 %) | I 3 tilstander |
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| ACTA1actin alpha 1, skeletal muscle | Ofte (30–79 %) | I 6 tilstander |
| 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 tilstander |
| ARSAarylsulfatase A | Ofte (30–79 %) | I 4 tilstander |
| 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 tilstander |
| BEAN1brain expressed associated with NEDD4 1 | Ofte (30–79 %) | I 1 tilstand |
| C19orf12chromosome 19 open reading frame 12 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| COG7component of oligomeric golgi complex 7 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| FGF12fibroblast growth factor 12 | Ofte (30–79 %) | I 1 tilstand |
| FMR1fragile X messenger ribonucleoprotein 1 | Ofte (30–79 %) | I 2 tilstander |
| FOXG1forkhead box G1 | Ofte (30–79 %) | I 1 tilstand |
| FZR1fizzy and cell division cycle 20 related 1 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| KLHL41kelch like family member 41 | Ofte (30–79 %) | I 3 tilstander |
| LAMB2laminin subunit beta 2 | Ofte (30–79 %) | I 3 tilstander |
| 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 tilstander |
| MORC2MORC family CW-type zinc finger 2 | Ofte (30–79 %) | I 2 tilstander |
| MPV17mitochondrial inner membrane protein MPV17 | Ofte (30–79 %) | I 2 tilstander |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Ofte (30–79 %) | I 1 tilstand |
| NEBnebulin | Ofte (30–79 %) | I 4 tilstander |
| NECAP1NECAP endocytosis associated 1 | Ofte (30–79 %) | I 1 tilstand |
| NEFLneurofilament light chain | Ofte (30–79 %) | I 4 tilstander |
| NGLY1N-glycanase 1 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Ofte (30–79 %) | I 2 tilstander |
| PLP1proteolipid protein 1 | Ofte (30–79 %) | I 1 tilstand |
| PMM2phosphomannomutase 2 | Ofte (30–79 %) | I 2 tilstander |
| PODXLpodocalyxin like | Ofte (30–79 %) | I 1 tilstand |
| POLGDNA polymerase gamma, catalytic subunit | Ofte (30–79 %) | I 6 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| SLC38A3solute carrier family 38 member 3 | Ofte (30–79 %) | I 1 tilstand |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Ofte (30–79 %) | I 2 tilstander |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Ofte (30–79 %) | I 1 tilstand |
| SYNJ1synaptojanin 1 | Ofte (30–79 %) | I 2 tilstander |
| SZT2SZT2 subunit of KICSTOR complex | Ofte (30–79 %) | I 2 tilstander |
| TBC1D24TBC1 domain family member 24 | Ofte (30–79 %) | I 2 tilstander |
| TPM2tropomyosin 2 | Ofte (30–79 %) | I 3 tilstander |
| TPM3tropomyosin 3 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 | Noen ganger (5–29 %) | I 1 tilstand |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Noen ganger (5–29 %) | I 1 tilstand |
| ACO2aconitase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ANXA11annexin A11 | Noen ganger (5–29 %) | I 1 tilstand |
| ATXN1ataxin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ATXN10ataxin 10 | Noen ganger (5–29 %) | I 1 tilstand |
| BICD2BICD cargo adaptor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CARS1cysteinyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Noen ganger (5–29 %) | I 2 tilstander |
| DBR1debranching RNA lariats 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DHX30DExH-box helicase 30 | Noen ganger (5–29 %) | I 1 tilstand |
| DKC1dyskerin pseudouridine synthase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DUOX2dual oxidase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| DUOXA2dual oxidase maturation factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Noen ganger (5–29 %) | I 2 tilstander |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Noen ganger (5–29 %) | I 1 tilstand |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Noen ganger (5–29 %) | I 1 tilstand |
| FUSFUS RNA binding protein | Noen ganger (5–29 %) | I 2 tilstander |
| GALCgalactosylceramidase | Noen ganger (5–29 %) | I 1 tilstand |
| GBA1glucosylceramidase beta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GBF1golgi brefeldin A resistant guanine nucleotide exchange factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GNASGNAS complex locus | Noen ganger (5–29 %) | I 3 tilstander |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Noen ganger (5–29 %) | I 1 tilstand |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Noen ganger (5–29 %) | I 2 tilstander |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2E2general transcription factor IIE subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2H5general transcription factor IIH subunit 5 | Noen ganger (5–29 %) | I 1 tilstand |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Noen ganger (5–29 %) | I 2 tilstander |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Noen ganger (5–29 %) | I 1 tilstand |
| IYDiodotyrosine deiodinase | Noen ganger (5–29 %) | I 1 tilstand |
| MCM3APminichromosome maintenance complex component 3 associated protein | Noen ganger (5–29 %) | I 1 tilstand |
| MPLKIPM-phase specific PLK1 interacting protein | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Noen ganger (5–29 %) | I 1 tilstand |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Noen ganger (5–29 %) | I 1 tilstand |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Noen ganger (5–29 %) | I 1 tilstand |
| MTPAPmitochondrial poly(A) polymerase | Noen ganger (5–29 %) | I 1 tilstand |
| PARNpoly(A)-specific ribonuclease | Noen ganger (5–29 %) | I 1 tilstand |
| PEX1peroxisomal biogenesis factor 1 | Noen ganger (5–29 %) | I 2 tilstander |
| PEX10peroxisomal biogenesis factor 10 | Noen ganger (5–29 %) | I 1 tilstand |
| PEX6peroxisomal biogenesis factor 6 | Noen ganger (5–29 %) | I 1 tilstand |
| PGBD5piggyBac transposable element derived 5 | Noen ganger (5–29 %) | I 1 tilstand |
| PHKA1phosphorylase kinase regulatory subunit alpha 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PHKG1phosphorylase kinase catalytic subunit gamma 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Noen ganger (5–29 %) | I 1 tilstand |
| PIK3R5phosphoinositide-3-kinase regulatory subunit 5 | Noen ganger (5–29 %) | I 1 tilstand |
| PMPCApeptidase, mitochondrial processing subunit alpha | Noen ganger (5–29 %) | I 1 tilstand |
| PNKPpolynucleotide kinase 3'-phosphatase | Noen ganger (5–29 %) | I 2 tilstander |
| POLG2DNA polymerase gamma 2, accessory subunit | Noen ganger (5–29 %) | I 1 tilstand |
| POLR3BRNA polymerase III subunit B | Noen ganger (5–29 %) | I 1 tilstand |
| PPOXprotoporphyrinogen oxidase | Noen ganger (5–29 %) | I 1 tilstand |
| PRDM12PR/SET domain 12 | Noen ganger (5–29 %) | I 1 tilstand |
| RNASEH1ribonuclease H1 | Noen ganger (5–29 %) | I 1 tilstand |
| RNF113Aring finger protein 113A | Noen ganger (5–29 %) | I 1 tilstand |
| RRM1ribonucleotide reductase catalytic subunit M1 | Noen ganger (5–29 %) | I 1 tilstand |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Noen ganger (5–29 %) | I 2 tilstander |
| RTEL1regulator of telomere elongation helicase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SEPTIN9septin 9 | Noen ganger (5–29 %) | I 1 tilstand |
| SETXsenataxin | Noen ganger (5–29 %) | I 1 tilstand |
| SIL1SIL1 nucleotide exchange factor | Noen ganger (5–29 %) | I 1 tilstand |
| SLC5A5solute carrier family 5 member 5 | Noen ganger (5–29 %) | I 1 tilstand |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Noen ganger (5–29 %) | I 1 tilstand |
| SQSTM1sequestosome 1 | Noen ganger (5–29 %) | I 2 tilstander |
| STX16syntaxin 16 | Noen ganger (5–29 %) | I 1 tilstand |
| TAOK1TAO kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TARDBPTAR DNA binding protein | Noen ganger (5–29 %) | I 1 tilstand |
| TARS1threonyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TBK1TANK binding kinase 1 | Noen ganger (5–29 %) | I 2 tilstander |
| TERCtelomerase RNA component | Noen ganger (5–29 %) | I 1 tilstand |
| TERTtelomerase reverse transcriptase | Noen ganger (5–29 %) | I 1 tilstand |
| TGthyroglobulin | Noen ganger (5–29 %) | I 1 tilstand |
| TINF2TERF1 interacting nuclear factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TK2thymidine kinase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TOP3ADNA topoisomerase III alpha | Noen ganger (5–29 %) | I 1 tilstand |
| TPOthyroid peroxidase | Noen ganger (5–29 %) | I 1 tilstand |
| TRIM8tripartite motif containing 8 | Noen ganger (5–29 %) | I 1 tilstand |
| TSEN15tRNA splicing endonuclease subunit 15 | Noen ganger (5–29 %) | I 1 tilstand |
| TSHRthyroid stimulating hormone receptor | Noen ganger (5–29 %) | I 1 tilstand |
| VCPvalosin containing protein | Noen ganger (5–29 %) | I 1 tilstand |
| WDR83OSWD repeat domain 83 opposite strand | Noen ganger (5–29 %) | I 1 tilstand |
| ZSWIM6zinc finger SWIM-type containing 6 | Noen ganger (5–29 %) | I 1 tilstand |
| B4GALNT1beta-1,4-N-acetyl-galactosaminyltransferase 1 | Sjelden (1–4%) | I 2 tilstander |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Sjelden (1–4%) | I 1 tilstand |
| PTF1Apancreas associated transcription factor 1a | Sjelden (1–4%) | I 1 tilstand |
| ABCA1ATP binding cassette subfamily A member 1 | Ikke registrert | I 1 tilstand |
| ABHD12abhydrolase domain containing 12, lysophospholipase | Ikke registrert | I 1 tilstand |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Ikke registrert | I 1 tilstand |
| APTXaprataxin | Ikke registrert | I 1 tilstand |
| ATP1A1ATPase Na+/K+ transporting subunit alpha 1 | Ikke registrert | I 1 tilstand |
| ATP7AATPase copper transporting alpha | Ikke registrert | I 1 tilstand |
| BAG3BAG cochaperone 3 | Ikke registrert | I 1 tilstand |
| BSNDbarttin CLCNK type accessory subunit beta | Ikke registrert | I 1 tilstand |
| CLCNKAchloride voltage-gated channel Ka | Ikke registrert | I 1 tilstand |
| CLCNKBchloride voltage-gated channel Kb | Ikke registrert | I 1 tilstand |
| CNTNAP1contactin associated protein 1 | Ikke registrert | I 1 tilstand |
| COASYCoenzyme A synthase | Ikke registrert | I 1 tilstand |
| COX6A1cytochrome c oxidase subunit 6A1 | Ikke registrert | I 1 tilstand |
| DCAF8DDB1 and CUL4 associated factor 8 | Ikke registrert | I 1 tilstand |
| DMDdystrophin | Ikke registrert | I 2 tilstander |
| DNM2dynamin 2 | Ikke registrert | I 1 tilstand |
| DNMT1DNA methyltransferase 1 | Ikke registrert | I 1 tilstand |
| DOCK3dedicator of cytokinesis 3 | Ikke registrert | I 1 tilstand |
| EGR2early growth response 2 | Ikke registrert | I 1 tilstand |
| FDX2ferredoxin 2 | Ikke registrert | I 1 tilstand |
| FGD4FYVE, RhoGEF and PH domain containing 4 | Ikke registrert | I 1 tilstand |
| FIG4FIG4 phosphoinositide 5-phosphatase | Ikke registrert | I 1 tilstand |
| FLNCfilamin C | Ikke registrert | I 1 tilstand |
| GARS1glycyl-tRNA synthetase 1 | Ikke registrert | I 1 tilstand |
| GJB1gap junction protein beta 1 | Ikke registrert | I 1 tilstand |
| GLDCglycine decarboxylase | Ikke registrert | I 1 tilstand |
| GNB4G protein subunit beta 4 | Ikke registrert | I 1 tilstand |
| HDAC4histone deacetylase 4 | Ikke registrert | I 1 tilstand |
| HK1hexokinase 1 | Ikke registrert | I 1 tilstand |
| HNRNPDLheterogeneous nuclear ribonucleoprotein D like | Ikke registrert | I 1 tilstand |
| HSPB8heat shock protein family B (small) member 8 | Ikke registrert | I 1 tilstand |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Ikke registrert | I 1 tilstand |
| IGHMBP2immunoglobulin mu DNA binding protein 2 | Ikke registrert | I 2 tilstander |
| INF2inverted formin 2 | Ikke registrert | I 1 tilstand |
| KARS1lysyl-tRNA synthetase 1 | Ikke registrert | I 1 tilstand |
| KIAA0586KIAA0586 | Ikke registrert | I 1 tilstand |
| KIF1Akinesin family member 1A | Ikke registrert | I 2 tilstander |
| KIF1Bkinesin family member 1B | Ikke registrert | I 1 tilstand |
| LITAFlipopolysaccharide induced TNF factor | Ikke registrert | I 1 tilstand |
| LMNAlamin A/C | Ikke registrert | I 1 tilstand |
| LRSAM1leucine rich repeat and sterile alpha motif containing 1 | Ikke registrert | I 1 tilstand |
| LYSTlysosomal trafficking regulator | Ikke registrert | I 1 tilstand |
| MED25mediator complex subunit 25 | Ikke registrert | I 1 tilstand |
| MEGF10multiple EGF like domains 10 | Ikke registrert | I 1 tilstand |
| MRE11MRE11 double strand break repair nuclease | Ikke registrert | I 1 tilstand |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Ikke registrert | I 1 tilstand |
| NDRG1N-myc downstream regulated 1 | Ikke registrert | I 1 tilstand |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Ikke registrert | I 1 tilstand |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Ikke registrert | I 1 tilstand |
| NEFHneurofilament heavy chain | Ikke registrert | I 1 tilstand |
| NFASCneurofascin | Ikke registrert | I 1 tilstand |
| PEX12peroxisomal biogenesis factor 12 | Ikke registrert | I 1 tilstand |
| PEX2peroxisomal biogenesis factor 2 | Ikke registrert | I 1 tilstand |
| PEX7peroxisomal biogenesis factor 7 | Ikke registrert | I 1 tilstand |
| PGM3phosphoglucomutase 3 | Ikke registrert | I 1 tilstand |
| PHYHphytanoyl-CoA 2-hydroxylase | Ikke registrert | I 1 tilstand |
| PRXperiaxin | Ikke registrert | I 1 tilstand |
| PTRH2peptidyl-tRNA hydrolase 2 | Ikke registrert | I 1 tilstand |
| RAB7ARAB7A, member RAS oncogene family | Ikke registrert | I 1 tilstand |
| RETREG1reticulophagy regulator 1 | Ikke registrert | I 2 tilstander |
| SBF2SET binding factor 2 | Ikke registrert | I 1 tilstand |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Ikke registrert | I 1 tilstand |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Ikke registrert | I 1 tilstand |
| SLC25A19solute carrier family 25 member 19 | Ikke registrert | I 1 tilstand |
| SLC35A1solute carrier family 35 member A1 | Ikke registrert | I 1 tilstand |
| SLC5A7solute carrier family 5 member 7 | Ikke registrert | I 1 tilstand |
| SMN1survival of motor neuron 1, telomeric | Ikke registrert | I 1 tilstand |
| SMN2survival of motor neuron 2, centromeric | Ikke registrert | I 1 tilstand |
| SMPD1sphingomyelin phosphodiesterase 1 | Ikke registrert | I 1 tilstand |
| SOX10SRY-box transcription factor 10 | Ikke registrert | I 1 tilstand |
| STAC3SH3 and cysteine rich domain 3 | Ikke registrert | I 1 tilstand |
| SYT2synaptotagmin 2 | Ikke registrert | I 1 tilstand |
| TBC1D23TBC1 domain family member 23 | Ikke registrert | I 1 tilstand |
| TMEM240transmembrane protein 240 | Ikke registrert | I 1 tilstand |
| TPI1triosephosphate isomerase 1 | Ikke registrert | I 1 tilstand |
| TRIM32tripartite motif containing 32 | Ikke registrert | I 1 tilstand |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Ikke registrert | I 3 tilstander |
| TTRtransthyretin | Ikke registrert | I 1 tilstand |
| WARS1tryptophanyl-tRNA synthetase 1 | Ikke registrert | I 1 tilstand |
| WDR81WD repeat domain 81 | Ikke registrert | I 1 tilstand |
| WNK1WNK lysine deficient protein kinase 1 | Ikke registrert | I 1 tilstand |
| XPAXPA, DNA damage recognition and repair factor | Ikke registrert | I 1 tilstand |
| ZFHX3zinc finger homeobox 3 | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Smalere egenskaper
Bredere egenskaper
Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.16-c6eea6bf.
Én test. En livstid med svar.
Fra 449 $Gratis frakt · Resultater på 6–8 uker