Piirre
Absent reflexes
Kliininen nimi: Areflexia
Absence of neurologic reflexes such as the knee-jerk reaction.
Yhteenveto
- Tunnetaan myös nimellä
- Absent tendon reflexes, Absent deep tendon reflexes, Deep tendon reflexes absent, Loss of deep tendon reflexes, Lost deep tendon reflexes
- Elimistön järjestelmä
- Abnormality of the nervous system
ViitegenomiGRCh38hg38
Geenien ja varianttien sivujen sijainnit noudattavat tätä valintaa tässä selaimessa.
Read the genes linked to Absent reflexes, and the rest of your genome, with one test.
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Tilaa Genome Test266 geeniä, jotka liittyvät piirteeseen Absent reflexes
Näiden geenien muutokset aiheuttavat harvinaisia sairauksia, joissa Absent reflexes esiintyy. Useimmilla, joilla on tämä piirre, ei ole mitään näistä sairauksista, eikä tämän listan geeni kerro mitään kenenkään omasta genomista.
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| AARS1alanyl-tRNA synthetase 1 | Aina | 3 sairaudessa |
| ACER3alkaline ceramidase 3 | Aina | 1 sairaudessa |
| ACTA1actin alpha 1, skeletal muscle | Aina | 6 sairaudessa |
| ADCY6adenylate cyclase 6 | Aina | 1 sairaudessa |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Aina | 4 sairaudessa |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Aina | 1 sairaudessa |
| ALG6ALG6 alpha-1,3-glucosyltransferase | Aina | 1 sairaudessa |
| AMPD1adenosine monophosphate deaminase 1 | Aina | 1 sairaudessa |
| ASCC1activating signal cointegrator 1 complex subunit 1 | Aina | 1 sairaudessa |
| ATP11AATPase phospholipid transporting 11A | Aina | 1 sairaudessa |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Aina | 3 sairaudessa |
| CDK5cyclin dependent kinase 5 | Aina | 1 sairaudessa |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Aina | 3 sairaudessa |
| COL6A1collagen type VI alpha 1 chain | Aina | 1 sairaudessa |
| COQ4coenzyme Q4 | Aina | 1 sairaudessa |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Aina | 1 sairaudessa |
| DNAJB2DnaJ heat shock protein family (Hsp40) member B2 | Aina | 1 sairaudessa |
| DNM1Ldynamin 1L | Aina | 2 sairaudessa |
| EGR2early growth response 2 | Aina | 2 sairaudessa |
| FDXRferredoxin reductase | Aina | 1 sairaudessa |
| FGD4FYVE, RhoGEF and PH domain containing 4 | Aina | 1 sairaudessa |
| FLVCR1FLVCR choline and heme transporter 1 | Aina | 2 sairaudessa |
| GANgigaxonin | Aina | 2 sairaudessa |
| GARS1glycyl-tRNA synthetase 1 | Aina | 1 sairaudessa |
| GCSHglycine cleavage system protein H | Aina | 1 sairaudessa |
| GDAP1ganglioside induced differentiation associated protein 1 | Aina | 6 sairaudessa |
| GOSR2golgi SNAP receptor complex member 2 | Aina | 2 sairaudessa |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Aina | 2 sairaudessa |
| HK1hexokinase 1 | Aina | 2 sairaudessa |
| HMGCR3-hydroxy-3-methylglutaryl-CoA reductase | Aina | 1 sairaudessa |
| HSPB8heat shock protein family B (small) member 8 | Aina | 2 sairaudessa |
| INF2inverted formin 2 | Aina | 1 sairaudessa |
| ISCUiron-sulfur cluster assembly enzyme | Aina | 1 sairaudessa |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Aina | 1 sairaudessa |
| LAMA2laminin subunit alpha 2 | Aina | 2 sairaudessa |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Aina | 2 sairaudessa |
| LGI4leucine rich repeat LGI family member 4 | Aina | 1 sairaudessa |
| MEGF10multiple EGF like domains 10 | Aina | 2 sairaudessa |
| MFN2mitofusin 2 | Aina | 3 sairaudessa |
| MPZmyelin protein zero | Aina | 9 sairaudessa |
Näytä 226 geeniä lisää
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| NDRG1N-myc downstream regulated 1 | Aina | 1 sairaudessa |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Aina | 1 sairaudessa |
| NEFLneurofilament light chain | Aina | 4 sairaudessa |
| NEUROG1neurogenin 1 | Aina | 1 sairaudessa |
| PDXKpyridoxal kinase | Aina | 1 sairaudessa |
| PEX12peroxisomal biogenesis factor 12 | Aina | 2 sairaudessa |
| PEX14peroxisomal biogenesis factor 14 | Aina | 1 sairaudessa |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Aina | 1 sairaudessa |
| PLEKHG5pleckstrin homology and RhoGEF domain containing G5 | Aina | 2 sairaudessa |
| PMP22peripheral myelin protein 22 | Aina | 5 sairaudessa |
| PNKPpolynucleotide kinase 3'-phosphatase | Aina | 2 sairaudessa |
| PRXperiaxin | Aina | 2 sairaudessa |
| RILPL1Rab interacting lysosomal protein like 1 | Aina | 2 sairaudessa |
| RNU6ATACRNA, U6atac small nuclear | Aina | 1 sairaudessa |
| SBF1SET binding factor 1 | Aina | 1 sairaudessa |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Aina | 1 sairaudessa |
| SCO2synthesis of cytochrome C oxidase 2 | Aina | 2 sairaudessa |
| SCYL2SCY1 like pseudokinase 2 | Aina | 2 sairaudessa |
| SLC12A6solute carrier family 12 member 6 | Aina | 2 sairaudessa |
| SLC25A21solute carrier family 25 member 21 | Aina | 1 sairaudessa |
| SNAP25synaptosome associated protein 25 | Aina | 1 sairaudessa |
| SNAP29synaptosome associated protein 29 | Aina | 2 sairaudessa |
| SNUPNsnurportin 1 | Aina | 1 sairaudessa |
| STAC3SH3 and cysteine rich domain 3 | Aina | 1 sairaudessa |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Aina | 1 sairaudessa |
| SYT2synaptotagmin 2 | Aina | 2 sairaudessa |
| TAMM41TAM41 mitochondrial translocator assembly and maintenance homolog | Aina | 1 sairaudessa |
| TBCKTBC1 domain containing kinase | Aina | 2 sairaudessa |
| TDP1tyrosyl-DNA phosphodiesterase 1 | Aina | 2 sairaudessa |
| TECPR2tectonin beta-propeller repeat containing 2 | Aina | 2 sairaudessa |
| TIMM50translocase of inner mitochondrial membrane 50 | Aina | 1 sairaudessa |
| TRIM2tripartite motif containing 2 | Aina | 1 sairaudessa |
| TRIP4thyroid hormone receptor interactor 4 | Aina | 1 sairaudessa |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Aina | 3 sairaudessa |
| TWNKtwinkle mtDNA helicase | Aina | 4 sairaudessa |
| UBA1ubiquitin like modifier activating enzyme 1 | Aina | 2 sairaudessa |
| VAMP1vesicle associated membrane protein 1 | Aina | 1 sairaudessa |
| XRCC1X-ray repair cross complementing 1 | Aina | 1 sairaudessa |
| YARS1tyrosyl-tRNA synthetase 1 | Aina | 1 sairaudessa |
| APTXaprataxin | Hyvin usein (80–99%) | 1 sairaudessa |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| COL4A1collagen type IV alpha 1 chain | Hyvin usein (80–99%) | 1 sairaudessa |
| CRPPACDP-L-ribitol pyrophosphorylase A | Hyvin usein (80–99%) | 2 sairaudessa |
| DAG1dystroglycan 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| DNM2dynamin 2 | Hyvin usein (80–99%) | 3 sairaudessa |
| FKRPfukutin related protein | Hyvin usein (80–99%) | 1 sairaudessa |
| FKTNfukutin | Hyvin usein (80–99%) | 2 sairaudessa |
| GBF1golgi brefeldin A resistant guanine nucleotide exchange factor 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| GJB1gap junction protein beta 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Hyvin usein (80–99%) | 2 sairaudessa |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Hyvin usein (80–99%) | 1 sairaudessa |
| IFRD1interferon related developmental regulator 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| MPV17mitochondrial inner membrane protein MPV17 | Hyvin usein (80–99%) | 2 sairaudessa |
| MTMR14myotubularin related protein 14 | Hyvin usein (80–99%) | 1 sairaudessa |
| MTRFRmitochondrial translation release factor in rescue | Hyvin usein (80–99%) | 2 sairaudessa |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Hyvin usein (80–99%) | 2 sairaudessa |
| PIK3R5phosphoinositide-3-kinase regulatory subunit 5 | Hyvin usein (80–99%) | 2 sairaudessa |
| POLGDNA polymerase gamma, catalytic subunit | Hyvin usein (80–99%) | 6 sairaudessa |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Hyvin usein (80–99%) | 1 sairaudessa |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Hyvin usein (80–99%) | 1 sairaudessa |
| POMKprotein O-mannose kinase | Hyvin usein (80–99%) | 1 sairaudessa |
| POMT1protein O-mannosyltransferase 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| POMT2protein O-mannosyltransferase 2 | Hyvin usein (80–99%) | 2 sairaudessa |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Hyvin usein (80–99%) | 3 sairaudessa |
| RCC1regulator of chromosome condensation 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| RXYLT1ribitol xylosyltransferase 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| SETXsenataxin | Hyvin usein (80–99%) | 2 sairaudessa |
| SPTBN4spectrin beta, non-erythrocytic 4 | Hyvin usein (80–99%) | 1 sairaudessa |
| TFGtrafficking from ER to golgi regulator | Hyvin usein (80–99%) | 2 sairaudessa |
| TTPAalpha tocopherol transfer protein | Hyvin usein (80–99%) | 2 sairaudessa |
| TYMPthymidine phosphorylase | Hyvin usein (80–99%) | 1 sairaudessa |
| ABHD5abhydrolase domain containing 5, lysophosphatidic acid acyltransferase | Usein (30–79%) | 1 sairaudessa |
| ACO2aconitase 2 | Usein (30–79%) | 1 sairaudessa |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Usein (30–79%) | 1 sairaudessa |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Usein (30–79%) | 1 sairaudessa |
| ANXA11annexin A11 | Usein (30–79%) | 1 sairaudessa |
| ARSIarylsulfatase family member I | Usein (30–79%) | 1 sairaudessa |
| CAPRIN1cell cycle associated protein 1 | Usein (30–79%) | 1 sairaudessa |
| CFL2cofilin 2 | Usein (30–79%) | 1 sairaudessa |
| CNTNAP1contactin associated protein 1 | Usein (30–79%) | 2 sairaudessa |
| COG7component of oligomeric golgi complex 7 | Usein (30–79%) | 1 sairaudessa |
| COL12A1collagen type XII alpha 1 chain | Usein (30–79%) | 2 sairaudessa |
| COL25A1collagen type XXV alpha 1 chain | Usein (30–79%) | 1 sairaudessa |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Usein (30–79%) | 1 sairaudessa |
| DSTdystonin | Usein (30–79%) | 1 sairaudessa |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Usein (30–79%) | 2 sairaudessa |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Usein (30–79%) | 1 sairaudessa |
| ERGIC1endoplasmic reticulum-golgi intermediate compartment 1 | Usein (30–79%) | 1 sairaudessa |
| FBXO28F-box protein 28 | Usein (30–79%) | 1 sairaudessa |
| GAAalpha glucosidase | Usein (30–79%) | 2 sairaudessa |
| GFPT1glutamine--fructose-6-phosphate transaminase 1 | Usein (30–79%) | 1 sairaudessa |
| GMPPBGDP-mannose pyrophosphorylase B | Usein (30–79%) | 1 sairaudessa |
| GUK1guanylate kinase 1 | Usein (30–79%) | 1 sairaudessa |
| ITGA7integrin subunit alpha 7 | Usein (30–79%) | 1 sairaudessa |
| KCNJ18potassium inwardly rectifying channel subfamily J member 18 | Usein (30–79%) | 1 sairaudessa |
| LMNAlamin A/C | Usein (30–79%) | 2 sairaudessa |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Usein (30–79%) | 1 sairaudessa |
| MMEmembrane metalloendopeptidase | Usein (30–79%) | 2 sairaudessa |
| MORC2MORC family CW-type zinc finger 2 | Usein (30–79%) | 2 sairaudessa |
| MTM1myotubularin 1 | Usein (30–79%) | 1 sairaudessa |
| MTTPmicrosomal triglyceride transfer protein | Usein (30–79%) | 1 sairaudessa |
| MYL1myosin light chain 1 | Usein (30–79%) | 1 sairaudessa |
| MYL2myosin light chain 2 | Usein (30–79%) | 1 sairaudessa |
| MYO1Hmyosin IH | Usein (30–79%) | 1 sairaudessa |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Usein (30–79%) | 1 sairaudessa |
| PAX7paired box 7 | Usein (30–79%) | 1 sairaudessa |
| PDSS1decaprenyl diphosphate synthase subunit 1 | Usein (30–79%) | 1 sairaudessa |
| PEX10peroxisomal biogenesis factor 10 | Usein (30–79%) | 1 sairaudessa |
| PEX2peroxisomal biogenesis factor 2 | Usein (30–79%) | 1 sairaudessa |
| PMM2phosphomannomutase 2 | Usein (30–79%) | 1 sairaudessa |
| PRNPprion protein (Kanno blood group) | Usein (30–79%) | 2 sairaudessa |
| RFC1replication factor C subunit 1 | Usein (30–79%) | 1 sairaudessa |
| RYR1ryanodine receptor 1 | Usein (30–79%) | 3 sairaudessa |
| SELENONselenoprotein N | Usein (30–79%) | 1 sairaudessa |
| SH3TC2SH3 domain and tetratricopeptide repeats 2 | Usein (30–79%) | 1 sairaudessa |
| SPEGstriated muscle enriched protein kinase | Usein (30–79%) | 2 sairaudessa |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Usein (30–79%) | 1 sairaudessa |
| TNNT1troponin T1, slow skeletal type | Usein (30–79%) | 1 sairaudessa |
| TPM2tropomyosin 2 | Usein (30–79%) | 2 sairaudessa |
| TPM3tropomyosin 3 | Usein (30–79%) | 3 sairaudessa |
| UNC13Aunc-13 homolog A | Usein (30–79%) | 1 sairaudessa |
| VAPBVAMP associated protein B and C | Usein (30–79%) | 2 sairaudessa |
| VPS13Avacuolar protein sorting 13 homolog A | Usein (30–79%) | 1 sairaudessa |
| ABCD3ATP binding cassette subfamily D member 3 | Joskus (5–29%) | 1 sairaudessa |
| ALDH4A1aldehyde dehydrogenase 4 family member A1 | Joskus (5–29%) | 1 sairaudessa |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Joskus (5–29%) | 1 sairaudessa |
| BIN1bridging integrator 1 | Joskus (5–29%) | 2 sairaudessa |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Joskus (5–29%) | 1 sairaudessa |
| CADM3cell adhesion molecule 3 | Joskus (5–29%) | 1 sairaudessa |
| CNTN1contactin 1 | Joskus (5–29%) | 1 sairaudessa |
| CNTNAP2contactin associated protein 2 | Joskus (5–29%) | 1 sairaudessa |
| COL13A1collagen type XIII alpha 1 chain | Joskus (5–29%) | 1 sairaudessa |
| COLQcollagen like tail subunit of asymmetric acetylcholinesterase | Joskus (5–29%) | 1 sairaudessa |
| DHX16DEAH-box helicase 16 | Joskus (5–29%) | 1 sairaudessa |
| DPYDdihydropyrimidine dehydrogenase | Joskus (5–29%) | 1 sairaudessa |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Joskus (5–29%) | 1 sairaudessa |
| ENTPD1ectonucleoside triphosphate diphosphohydrolase 1 | Joskus (5–29%) | 1 sairaudessa |
| EPG5ectopic P-granules 5 autophagy tethering factor | Joskus (5–29%) | 1 sairaudessa |
| ERLIN1ER lipid raft associated 1 | Joskus (5–29%) | 1 sairaudessa |
| FXR1FMR1 autosomal homolog 1 | Joskus (5–29%) | 2 sairaudessa |
| GEMIN5gem nuclear organelle associated protein 5 | Joskus (5–29%) | 1 sairaudessa |
| GIPC1GIPC PDZ domain containing family member 1 | Joskus (5–29%) | 1 sairaudessa |
| HINT1histidine triad nucleotide binding protein 1 | Joskus (5–29%) | 1 sairaudessa |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Joskus (5–29%) | 2 sairaudessa |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Joskus (5–29%) | 1 sairaudessa |
| KBTBD13kelch repeat and BTB domain containing 13 | Joskus (5–29%) | 1 sairaudessa |
| KCNK9potassium two pore domain channel subfamily K member 9 | Joskus (5–29%) | 1 sairaudessa |
| KLHL41kelch like family member 41 | Joskus (5–29%) | 2 sairaudessa |
| LAMB2laminin subunit beta 2 | Joskus (5–29%) | 2 sairaudessa |
| LRP12LDL receptor related protein 12 | Joskus (5–29%) | 2 sairaudessa |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Joskus (5–29%) | 1 sairaudessa |
| MT-TTmitochondrially encoded tRNA-Thr (ACN) | Joskus (5–29%) | 1 sairaudessa |
| MYH14myosin heavy chain 14 | Joskus (5–29%) | 1 sairaudessa |
| MYPNmyopalladin | Joskus (5–29%) | 1 sairaudessa |
| NEBnebulin | Joskus (5–29%) | 3 sairaudessa |
| NOTCH2NLCnotch 2 N-terminal like C | Joskus (5–29%) | 1 sairaudessa |
| NUTM2B-AS1NUTM2B antisense RNA 1 | Joskus (5–29%) | 1 sairaudessa |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Joskus (5–29%) | 1 sairaudessa |
| PLAAT3phospholipase A and acyltransferase 3 | Joskus (5–29%) | 1 sairaudessa |
| PLECplectin | Joskus (5–29%) | 1 sairaudessa |
| PLEKHG4pleckstrin homology and RhoGEF domain containing G4 | Joskus (5–29%) | 1 sairaudessa |
| PNPLA2patatin like domain 2, triacylglycerol lipase | Joskus (5–29%) | 2 sairaudessa |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Joskus (5–29%) | 1 sairaudessa |
| PRORPprotein only RNase P catalytic subunit | Joskus (5–29%) | 1 sairaudessa |
| RHOBTB2Rho related BTB domain containing 2 | Joskus (5–29%) | 1 sairaudessa |
| RMND1required for meiotic nuclear division 1 homolog | Joskus (5–29%) | 1 sairaudessa |
| RRM1ribonucleotide reductase catalytic subunit M1 | Joskus (5–29%) | 1 sairaudessa |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Joskus (5–29%) | 1 sairaudessa |
| SIL1SIL1 nucleotide exchange factor | Joskus (5–29%) | 1 sairaudessa |
| SLC1A3solute carrier family 1 member 3 | Joskus (5–29%) | 1 sairaudessa |
| SLC25A46solute carrier family 25 member 46 | Joskus (5–29%) | 2 sairaudessa |
| SLC2A1solute carrier family 2 member 1 | Joskus (5–29%) | 1 sairaudessa |
| TBCDtubulin folding cofactor D | Joskus (5–29%) | 1 sairaudessa |
| TTNtitin | Joskus (5–29%) | 1 sairaudessa |
| UGDHUDP-glucose 6-dehydrogenase | Joskus (5–29%) | 1 sairaudessa |
| OPA1OPA1 mitochondrial dynamin like GTPase | Harvinainen (1–4 %) | 1 sairaudessa |
| PPIBpeptidylprolyl isomerase B | Harvinainen (1–4 %) | 1 sairaudessa |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Harvinainen (1–4 %) | 1 sairaudessa |
| SAR1Bsecretion associated Ras related GTPase 1B | Harvinainen (1–4 %) | 1 sairaudessa |
| ASAH1N-acylsphingosine amidohydrolase 1 | Ei kirjattu | 1 sairaudessa |
| ATP1A1ATPase Na+/K+ transporting subunit alpha 1 | Ei kirjattu | 1 sairaudessa |
| ATXN1ataxin 1 | Ei kirjattu | 1 sairaudessa |
| BICD2BICD cargo adaptor 2 | Ei kirjattu | 1 sairaudessa |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Ei kirjattu | 1 sairaudessa |
| CAV3caveolin 3 | Ei kirjattu | 1 sairaudessa |
| CD59CD59 molecule (CD59 blood group) | Ei kirjattu | 1 sairaudessa |
| COX6A1cytochrome c oxidase subunit 6A1 | Ei kirjattu | 1 sairaudessa |
| DCAF8DDB1 and CUL4 associated factor 8 | Ei kirjattu | 1 sairaudessa |
| ERBB3erb-b2 receptor tyrosine kinase 3 | Ei kirjattu | 1 sairaudessa |
| FHL1four and a half LIM domains 1 | Ei kirjattu | 1 sairaudessa |
| FIG4FIG4 phosphoinositide 5-phosphatase | Ei kirjattu | 1 sairaudessa |
| IBA57iron-sulfur cluster assembly factor IBA57 | Ei kirjattu | 1 sairaudessa |
| JAG1jagged canonical Notch ligand 1 | Ei kirjattu | 1 sairaudessa |
| JPH1junctophilin 1 | Ei kirjattu | 1 sairaudessa |
| KARS1lysyl-tRNA synthetase 1 | Ei kirjattu | 1 sairaudessa |
| KIF1Akinesin family member 1A | Ei kirjattu | 1 sairaudessa |
| KIF1Bkinesin family member 1B | Ei kirjattu | 1 sairaudessa |
| LPIN1lipin 1 | Ei kirjattu | 1 sairaudessa |
| LRSAM1leucine rich repeat and sterile alpha motif containing 1 | Ei kirjattu | 1 sairaudessa |
| MARS1methionyl-tRNA synthetase 1 | Ei kirjattu | 1 sairaudessa |
| MED25mediator complex subunit 25 | Ei kirjattu | 1 sairaudessa |
| MYOTmyotilin | Ei kirjattu | 1 sairaudessa |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Ei kirjattu | 1 sairaudessa |
| PEX1peroxisomal biogenesis factor 1 | Ei kirjattu | 1 sairaudessa |
| PEX11Bperoxisomal biogenesis factor 11 beta | Ei kirjattu | 1 sairaudessa |
| PEX3peroxisomal biogenesis factor 3 | Ei kirjattu | 1 sairaudessa |
| PEX5peroxisomal biogenesis factor 5 | Ei kirjattu | 1 sairaudessa |
| PLA2G6phospholipase A2 group VI | Ei kirjattu | 1 sairaudessa |
| PNPLA6patatin like domain 6, lysophospholipase | Ei kirjattu | 1 sairaudessa |
| PYROXD1pyridine nucleotide-disulphide oxidoreductase domain 1 | Ei kirjattu | 1 sairaudessa |
| RAB7ARAB7A, member RAS oncogene family | Ei kirjattu | 1 sairaudessa |
| RAI1retinoic acid induced 1 | Ei kirjattu | 1 sairaudessa |
| RETREG1reticulophagy regulator 1 | Ei kirjattu | 2 sairaudessa |
| RNF170ring finger protein 170 | Ei kirjattu | 1 sairaudessa |
| SBF2SET binding factor 2 | Ei kirjattu | 1 sairaudessa |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Ei kirjattu | 1 sairaudessa |
| SLC52A2solute carrier family 52 member 2 | Ei kirjattu | 1 sairaudessa |
| SMN1survival of motor neuron 1, telomeric | Ei kirjattu | 1 sairaudessa |
| SOX10SRY-box transcription factor 10 | Ei kirjattu | 1 sairaudessa |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Ei kirjattu | 1 sairaudessa |
| SURF1SURF1 cytochrome c oxidase assembly factor | Ei kirjattu | 1 sairaudessa |
| TRIM32tripartite motif containing 32 | Ei kirjattu | 1 sairaudessa |
| WNK1WNK lysine deficient protein kinase 1 | Ei kirjattu | 1 sairaudessa |
| ZC4H2zinc finger C4H2-type containing | Ei kirjattu | 1 sairaudessa |
| ZFHX3zinc finger homeobox 3 | Ei kirjattu | 1 sairaudessa |
Kuinka usein ilmiö esiintyy ihmisillä, joilla on jokin geenin sairauksista, niin kuin Human Phenotype Ontology sen kirjaa. Nämä sivut kuvaavat piirteitä ja niiden taustalla olevaa tutkimusta, eivätkä ne ole diagnoosi. Oireista kannattaa kysyä lääkäriltä tai geneettiseltä neuvojalta.
Tarkemmat piirteet
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Mistä tämä tieto tulee
- Human Phenotype Ontology, julkaisu 2026-09-01: piirre, sen nimet, määritelmä ja siihen liitetyt geenit. Lue lisää osoitteesta hpo.jax.org.
- Tietojulkaisu 2026.10.16-c6eea6bf.
Yksi testi. Vastauksia koko elämäksi.
Alkaen 449 $Ilmainen toimitus · Tulokset 6–8 viikossa