Træk
Absent reflexes
Klinisk navn: Areflexia
Absence of neurologic reflexes such as the knee-jerk reaction.
Resumé
- Også kaldet
- Absent tendon reflexes, Absent deep tendon reflexes, Deep tendon reflexes absent, Loss of deep tendon reflexes, Lost deep tendon reflexes
- Kropssystem
- Abnormality of the nervous system
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
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Bestil min Genome Test266 gener knyttet til Absent reflexes
Ændringer i disse gener forårsager sjældne tilstande, hvor Absent reflexes ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| AARS1alanyl-tRNA synthetase 1 | Altid | I 3 tilstande |
| ACER3alkaline ceramidase 3 | Altid | I 1 tilstand |
| ACTA1actin alpha 1, skeletal muscle | Altid | I 6 tilstande |
| ADCY6adenylate cyclase 6 | Altid | I 1 tilstand |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Altid | I 4 tilstande |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Altid | I 1 tilstand |
| ALG6ALG6 alpha-1,3-glucosyltransferase | Altid | I 1 tilstand |
| AMPD1adenosine monophosphate deaminase 1 | Altid | I 1 tilstand |
| ASCC1activating signal cointegrator 1 complex subunit 1 | Altid | I 1 tilstand |
| ATP11AATPase phospholipid transporting 11A | Altid | I 1 tilstand |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Altid | I 3 tilstande |
| CDK5cyclin dependent kinase 5 | Altid | I 1 tilstand |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Altid | I 3 tilstande |
| COL6A1collagen type VI alpha 1 chain | Altid | I 1 tilstand |
| COQ4coenzyme Q4 | Altid | I 1 tilstand |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Altid | I 1 tilstand |
| DNAJB2DnaJ heat shock protein family (Hsp40) member B2 | Altid | I 1 tilstand |
| DNM1Ldynamin 1L | Altid | I 2 tilstande |
| EGR2early growth response 2 | Altid | I 2 tilstande |
| FDXRferredoxin reductase | Altid | I 1 tilstand |
| FGD4FYVE, RhoGEF and PH domain containing 4 | Altid | I 1 tilstand |
| FLVCR1FLVCR choline and heme transporter 1 | Altid | I 2 tilstande |
| GANgigaxonin | Altid | I 2 tilstande |
| GARS1glycyl-tRNA synthetase 1 | Altid | I 1 tilstand |
| GCSHglycine cleavage system protein H | Altid | I 1 tilstand |
| GDAP1ganglioside induced differentiation associated protein 1 | Altid | I 6 tilstande |
| GOSR2golgi SNAP receptor complex member 2 | Altid | I 2 tilstande |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Altid | I 2 tilstande |
| HK1hexokinase 1 | Altid | I 2 tilstande |
| HMGCR3-hydroxy-3-methylglutaryl-CoA reductase | Altid | I 1 tilstand |
| HSPB8heat shock protein family B (small) member 8 | Altid | I 2 tilstande |
| INF2inverted formin 2 | Altid | I 1 tilstand |
| ISCUiron-sulfur cluster assembly enzyme | Altid | I 1 tilstand |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Altid | I 1 tilstand |
| LAMA2laminin subunit alpha 2 | Altid | I 2 tilstande |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Altid | I 2 tilstande |
| LGI4leucine rich repeat LGI family member 4 | Altid | I 1 tilstand |
| MEGF10multiple EGF like domains 10 | Altid | I 2 tilstande |
| MFN2mitofusin 2 | Altid | I 3 tilstande |
| MPZmyelin protein zero | Altid | I 9 tilstande |
Vis 226 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| NDRG1N-myc downstream regulated 1 | Altid | I 1 tilstand |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Altid | I 1 tilstand |
| NEFLneurofilament light chain | Altid | I 4 tilstande |
| NEUROG1neurogenin 1 | Altid | I 1 tilstand |
| PDXKpyridoxal kinase | Altid | I 1 tilstand |
| PEX12peroxisomal biogenesis factor 12 | Altid | I 2 tilstande |
| PEX14peroxisomal biogenesis factor 14 | Altid | I 1 tilstand |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Altid | I 1 tilstand |
| PLEKHG5pleckstrin homology and RhoGEF domain containing G5 | Altid | I 2 tilstande |
| PMP22peripheral myelin protein 22 | Altid | I 5 tilstande |
| PNKPpolynucleotide kinase 3'-phosphatase | Altid | I 2 tilstande |
| PRXperiaxin | Altid | I 2 tilstande |
| RILPL1Rab interacting lysosomal protein like 1 | Altid | I 2 tilstande |
| RNU6ATACRNA, U6atac small nuclear | Altid | I 1 tilstand |
| SBF1SET binding factor 1 | Altid | I 1 tilstand |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Altid | I 1 tilstand |
| SCO2synthesis of cytochrome C oxidase 2 | Altid | I 2 tilstande |
| SCYL2SCY1 like pseudokinase 2 | Altid | I 2 tilstande |
| SLC12A6solute carrier family 12 member 6 | Altid | I 2 tilstande |
| SLC25A21solute carrier family 25 member 21 | Altid | I 1 tilstand |
| SNAP25synaptosome associated protein 25 | Altid | I 1 tilstand |
| SNAP29synaptosome associated protein 29 | Altid | I 2 tilstande |
| SNUPNsnurportin 1 | Altid | I 1 tilstand |
| STAC3SH3 and cysteine rich domain 3 | Altid | I 1 tilstand |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Altid | I 1 tilstand |
| SYT2synaptotagmin 2 | Altid | I 2 tilstande |
| TAMM41TAM41 mitochondrial translocator assembly and maintenance homolog | Altid | I 1 tilstand |
| TBCKTBC1 domain containing kinase | Altid | I 2 tilstande |
| TDP1tyrosyl-DNA phosphodiesterase 1 | Altid | I 2 tilstande |
| TECPR2tectonin beta-propeller repeat containing 2 | Altid | I 2 tilstande |
| TIMM50translocase of inner mitochondrial membrane 50 | Altid | I 1 tilstand |
| TRIM2tripartite motif containing 2 | Altid | I 1 tilstand |
| TRIP4thyroid hormone receptor interactor 4 | Altid | I 1 tilstand |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Altid | I 3 tilstande |
| TWNKtwinkle mtDNA helicase | Altid | I 4 tilstande |
| UBA1ubiquitin like modifier activating enzyme 1 | Altid | I 2 tilstande |
| VAMP1vesicle associated membrane protein 1 | Altid | I 1 tilstand |
| XRCC1X-ray repair cross complementing 1 | Altid | I 1 tilstand |
| YARS1tyrosyl-tRNA synthetase 1 | Altid | I 1 tilstand |
| APTXaprataxin | Meget ofte (80–99 %) | I 1 tilstand |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Meget ofte (80–99 %) | I 1 tilstand |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| COL4A1collagen type IV alpha 1 chain | Meget ofte (80–99 %) | I 1 tilstand |
| CRPPACDP-L-ribitol pyrophosphorylase A | Meget ofte (80–99 %) | I 2 tilstande |
| DAG1dystroglycan 1 | Meget ofte (80–99 %) | I 1 tilstand |
| DNM2dynamin 2 | Meget ofte (80–99 %) | I 3 tilstande |
| FKRPfukutin related protein | Meget ofte (80–99 %) | I 1 tilstand |
| FKTNfukutin | Meget ofte (80–99 %) | I 2 tilstande |
| GBF1golgi brefeldin A resistant guanine nucleotide exchange factor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| GJB1gap junction protein beta 1 | Meget ofte (80–99 %) | I 1 tilstand |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Meget ofte (80–99 %) | I 2 tilstande |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Meget ofte (80–99 %) | I 1 tilstand |
| IFRD1interferon related developmental regulator 1 | Meget ofte (80–99 %) | I 1 tilstand |
| MPV17mitochondrial inner membrane protein MPV17 | Meget ofte (80–99 %) | I 2 tilstande |
| MTMR14myotubularin related protein 14 | Meget ofte (80–99 %) | I 1 tilstand |
| MTRFRmitochondrial translation release factor in rescue | Meget ofte (80–99 %) | I 2 tilstande |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Meget ofte (80–99 %) | I 2 tilstande |
| PIK3R5phosphoinositide-3-kinase regulatory subunit 5 | Meget ofte (80–99 %) | I 2 tilstande |
| POLGDNA polymerase gamma, catalytic subunit | Meget ofte (80–99 %) | I 6 tilstande |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Meget ofte (80–99 %) | I 1 tilstand |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Meget ofte (80–99 %) | I 1 tilstand |
| POMKprotein O-mannose kinase | Meget ofte (80–99 %) | I 1 tilstand |
| POMT1protein O-mannosyltransferase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| POMT2protein O-mannosyltransferase 2 | Meget ofte (80–99 %) | I 2 tilstande |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Meget ofte (80–99 %) | I 3 tilstande |
| RCC1regulator of chromosome condensation 1 | Meget ofte (80–99 %) | I 1 tilstand |
| RXYLT1ribitol xylosyltransferase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| SETXsenataxin | Meget ofte (80–99 %) | I 2 tilstande |
| SPTBN4spectrin beta, non-erythrocytic 4 | Meget ofte (80–99 %) | I 1 tilstand |
| TFGtrafficking from ER to golgi regulator | Meget ofte (80–99 %) | I 2 tilstande |
| TTPAalpha tocopherol transfer protein | Meget ofte (80–99 %) | I 2 tilstande |
| TYMPthymidine phosphorylase | Meget ofte (80–99 %) | I 1 tilstand |
| ABHD5abhydrolase domain containing 5, lysophosphatidic acid acyltransferase | Ofte (30–79 %) | I 1 tilstand |
| ACO2aconitase 2 | Ofte (30–79 %) | I 1 tilstand |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Ofte (30–79 %) | I 1 tilstand |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Ofte (30–79 %) | I 1 tilstand |
| ANXA11annexin A11 | Ofte (30–79 %) | I 1 tilstand |
| ARSIarylsulfatase family member I | Ofte (30–79 %) | I 1 tilstand |
| CAPRIN1cell cycle associated protein 1 | Ofte (30–79 %) | I 1 tilstand |
| CFL2cofilin 2 | Ofte (30–79 %) | I 1 tilstand |
| CNTNAP1contactin associated protein 1 | Ofte (30–79 %) | I 2 tilstande |
| COG7component of oligomeric golgi complex 7 | Ofte (30–79 %) | I 1 tilstand |
| COL12A1collagen type XII alpha 1 chain | Ofte (30–79 %) | I 2 tilstande |
| COL25A1collagen type XXV alpha 1 chain | Ofte (30–79 %) | I 1 tilstand |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| DSTdystonin | Ofte (30–79 %) | I 1 tilstand |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Ofte (30–79 %) | I 2 tilstande |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Ofte (30–79 %) | I 1 tilstand |
| ERGIC1endoplasmic reticulum-golgi intermediate compartment 1 | Ofte (30–79 %) | I 1 tilstand |
| FBXO28F-box protein 28 | Ofte (30–79 %) | I 1 tilstand |
| GAAalpha glucosidase | Ofte (30–79 %) | I 2 tilstande |
| GFPT1glutamine--fructose-6-phosphate transaminase 1 | Ofte (30–79 %) | I 1 tilstand |
| GMPPBGDP-mannose pyrophosphorylase B | Ofte (30–79 %) | I 1 tilstand |
| GUK1guanylate kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| ITGA7integrin subunit alpha 7 | Ofte (30–79 %) | I 1 tilstand |
| KCNJ18potassium inwardly rectifying channel subfamily J member 18 | Ofte (30–79 %) | I 1 tilstand |
| LMNAlamin A/C | Ofte (30–79 %) | I 2 tilstande |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Ofte (30–79 %) | I 1 tilstand |
| MMEmembrane metalloendopeptidase | Ofte (30–79 %) | I 2 tilstande |
| MORC2MORC family CW-type zinc finger 2 | Ofte (30–79 %) | I 2 tilstande |
| MTM1myotubularin 1 | Ofte (30–79 %) | I 1 tilstand |
| MTTPmicrosomal triglyceride transfer protein | Ofte (30–79 %) | I 1 tilstand |
| MYL1myosin light chain 1 | Ofte (30–79 %) | I 1 tilstand |
| MYL2myosin light chain 2 | Ofte (30–79 %) | I 1 tilstand |
| MYO1Hmyosin IH | Ofte (30–79 %) | I 1 tilstand |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Ofte (30–79 %) | I 1 tilstand |
| PAX7paired box 7 | Ofte (30–79 %) | I 1 tilstand |
| PDSS1decaprenyl diphosphate synthase subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| PEX10peroxisomal biogenesis factor 10 | Ofte (30–79 %) | I 1 tilstand |
| PEX2peroxisomal biogenesis factor 2 | Ofte (30–79 %) | I 1 tilstand |
| PMM2phosphomannomutase 2 | Ofte (30–79 %) | I 1 tilstand |
| PRNPprion protein (Kanno blood group) | Ofte (30–79 %) | I 2 tilstande |
| RFC1replication factor C subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| RYR1ryanodine receptor 1 | Ofte (30–79 %) | I 3 tilstande |
| SELENONselenoprotein N | Ofte (30–79 %) | I 1 tilstand |
| SH3TC2SH3 domain and tetratricopeptide repeats 2 | Ofte (30–79 %) | I 1 tilstand |
| SPEGstriated muscle enriched protein kinase | Ofte (30–79 %) | I 2 tilstande |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Ofte (30–79 %) | I 1 tilstand |
| TNNT1troponin T1, slow skeletal type | Ofte (30–79 %) | I 1 tilstand |
| TPM2tropomyosin 2 | Ofte (30–79 %) | I 2 tilstande |
| TPM3tropomyosin 3 | Ofte (30–79 %) | I 3 tilstande |
| UNC13Aunc-13 homolog A | Ofte (30–79 %) | I 1 tilstand |
| VAPBVAMP associated protein B and C | Ofte (30–79 %) | I 2 tilstande |
| VPS13Avacuolar protein sorting 13 homolog A | Ofte (30–79 %) | I 1 tilstand |
| ABCD3ATP binding cassette subfamily D member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| ALDH4A1aldehyde dehydrogenase 4 family member A1 | Nogle gange (5–29 %) | I 1 tilstand |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Nogle gange (5–29 %) | I 1 tilstand |
| BIN1bridging integrator 1 | Nogle gange (5–29 %) | I 2 tilstande |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Nogle gange (5–29 %) | I 1 tilstand |
| CADM3cell adhesion molecule 3 | Nogle gange (5–29 %) | I 1 tilstand |
| CNTN1contactin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CNTNAP2contactin associated protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| COL13A1collagen type XIII alpha 1 chain | Nogle gange (5–29 %) | I 1 tilstand |
| COLQcollagen like tail subunit of asymmetric acetylcholinesterase | Nogle gange (5–29 %) | I 1 tilstand |
| DHX16DEAH-box helicase 16 | Nogle gange (5–29 %) | I 1 tilstand |
| DPYDdihydropyrimidine dehydrogenase | Nogle gange (5–29 %) | I 1 tilstand |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ENTPD1ectonucleoside triphosphate diphosphohydrolase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| EPG5ectopic P-granules 5 autophagy tethering factor | Nogle gange (5–29 %) | I 1 tilstand |
| ERLIN1ER lipid raft associated 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FXR1FMR1 autosomal homolog 1 | Nogle gange (5–29 %) | I 2 tilstande |
| GEMIN5gem nuclear organelle associated protein 5 | Nogle gange (5–29 %) | I 1 tilstand |
| GIPC1GIPC PDZ domain containing family member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HINT1histidine triad nucleotide binding protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Nogle gange (5–29 %) | I 2 tilstande |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Nogle gange (5–29 %) | I 1 tilstand |
| KBTBD13kelch repeat and BTB domain containing 13 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNK9potassium two pore domain channel subfamily K member 9 | Nogle gange (5–29 %) | I 1 tilstand |
| KLHL41kelch like family member 41 | Nogle gange (5–29 %) | I 2 tilstande |
| LAMB2laminin subunit beta 2 | Nogle gange (5–29 %) | I 2 tilstande |
| LRP12LDL receptor related protein 12 | Nogle gange (5–29 %) | I 2 tilstande |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TTmitochondrially encoded tRNA-Thr (ACN) | Nogle gange (5–29 %) | I 1 tilstand |
| MYH14myosin heavy chain 14 | Nogle gange (5–29 %) | I 1 tilstand |
| MYPNmyopalladin | Nogle gange (5–29 %) | I 1 tilstand |
| NEBnebulin | Nogle gange (5–29 %) | I 3 tilstande |
| NOTCH2NLCnotch 2 N-terminal like C | Nogle gange (5–29 %) | I 1 tilstand |
| NUTM2B-AS1NUTM2B antisense RNA 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Nogle gange (5–29 %) | I 1 tilstand |
| PLAAT3phospholipase A and acyltransferase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| PLECplectin | Nogle gange (5–29 %) | I 1 tilstand |
| PLEKHG4pleckstrin homology and RhoGEF domain containing G4 | Nogle gange (5–29 %) | I 1 tilstand |
| PNPLA2patatin like domain 2, triacylglycerol lipase | Nogle gange (5–29 %) | I 2 tilstande |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Nogle gange (5–29 %) | I 1 tilstand |
| PRORPprotein only RNase P catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| RHOBTB2Rho related BTB domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RMND1required for meiotic nuclear division 1 homolog | Nogle gange (5–29 %) | I 1 tilstand |
| RRM1ribonucleotide reductase catalytic subunit M1 | Nogle gange (5–29 %) | I 1 tilstand |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SIL1SIL1 nucleotide exchange factor | Nogle gange (5–29 %) | I 1 tilstand |
| SLC1A3solute carrier family 1 member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC25A46solute carrier family 25 member 46 | Nogle gange (5–29 %) | I 2 tilstande |
| SLC2A1solute carrier family 2 member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TBCDtubulin folding cofactor D | Nogle gange (5–29 %) | I 1 tilstand |
| TTNtitin | Nogle gange (5–29 %) | I 1 tilstand |
| UGDHUDP-glucose 6-dehydrogenase | Nogle gange (5–29 %) | I 1 tilstand |
| OPA1OPA1 mitochondrial dynamin like GTPase | Sjældent (1–4%) | I 1 tilstand |
| PPIBpeptidylprolyl isomerase B | Sjældent (1–4%) | I 1 tilstand |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Sjældent (1–4%) | I 1 tilstand |
| SAR1Bsecretion associated Ras related GTPase 1B | Sjældent (1–4%) | I 1 tilstand |
| ASAH1N-acylsphingosine amidohydrolase 1 | Ikke registreret | I 1 tilstand |
| ATP1A1ATPase Na+/K+ transporting subunit alpha 1 | Ikke registreret | I 1 tilstand |
| ATXN1ataxin 1 | Ikke registreret | I 1 tilstand |
| BICD2BICD cargo adaptor 2 | Ikke registreret | I 1 tilstand |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Ikke registreret | I 1 tilstand |
| CAV3caveolin 3 | Ikke registreret | I 1 tilstand |
| CD59CD59 molecule (CD59 blood group) | Ikke registreret | I 1 tilstand |
| COX6A1cytochrome c oxidase subunit 6A1 | Ikke registreret | I 1 tilstand |
| DCAF8DDB1 and CUL4 associated factor 8 | Ikke registreret | I 1 tilstand |
| ERBB3erb-b2 receptor tyrosine kinase 3 | Ikke registreret | I 1 tilstand |
| FHL1four and a half LIM domains 1 | Ikke registreret | I 1 tilstand |
| FIG4FIG4 phosphoinositide 5-phosphatase | Ikke registreret | I 1 tilstand |
| IBA57iron-sulfur cluster assembly factor IBA57 | Ikke registreret | I 1 tilstand |
| JAG1jagged canonical Notch ligand 1 | Ikke registreret | I 1 tilstand |
| JPH1junctophilin 1 | Ikke registreret | I 1 tilstand |
| KARS1lysyl-tRNA synthetase 1 | Ikke registreret | I 1 tilstand |
| KIF1Akinesin family member 1A | Ikke registreret | I 1 tilstand |
| KIF1Bkinesin family member 1B | Ikke registreret | I 1 tilstand |
| LPIN1lipin 1 | Ikke registreret | I 1 tilstand |
| LRSAM1leucine rich repeat and sterile alpha motif containing 1 | Ikke registreret | I 1 tilstand |
| MARS1methionyl-tRNA synthetase 1 | Ikke registreret | I 1 tilstand |
| MED25mediator complex subunit 25 | Ikke registreret | I 1 tilstand |
| MYOTmyotilin | Ikke registreret | I 1 tilstand |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Ikke registreret | I 1 tilstand |
| PEX1peroxisomal biogenesis factor 1 | Ikke registreret | I 1 tilstand |
| PEX11Bperoxisomal biogenesis factor 11 beta | Ikke registreret | I 1 tilstand |
| PEX3peroxisomal biogenesis factor 3 | Ikke registreret | I 1 tilstand |
| PEX5peroxisomal biogenesis factor 5 | Ikke registreret | I 1 tilstand |
| PLA2G6phospholipase A2 group VI | Ikke registreret | I 1 tilstand |
| PNPLA6patatin like domain 6, lysophospholipase | Ikke registreret | I 1 tilstand |
| PYROXD1pyridine nucleotide-disulphide oxidoreductase domain 1 | Ikke registreret | I 1 tilstand |
| RAB7ARAB7A, member RAS oncogene family | Ikke registreret | I 1 tilstand |
| RAI1retinoic acid induced 1 | Ikke registreret | I 1 tilstand |
| RETREG1reticulophagy regulator 1 | Ikke registreret | I 2 tilstande |
| RNF170ring finger protein 170 | Ikke registreret | I 1 tilstand |
| SBF2SET binding factor 2 | Ikke registreret | I 1 tilstand |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Ikke registreret | I 1 tilstand |
| SLC52A2solute carrier family 52 member 2 | Ikke registreret | I 1 tilstand |
| SMN1survival of motor neuron 1, telomeric | Ikke registreret | I 1 tilstand |
| SOX10SRY-box transcription factor 10 | Ikke registreret | I 1 tilstand |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Ikke registreret | I 1 tilstand |
| SURF1SURF1 cytochrome c oxidase assembly factor | Ikke registreret | I 1 tilstand |
| TRIM32tripartite motif containing 32 | Ikke registreret | I 1 tilstand |
| WNK1WNK lysine deficient protein kinase 1 | Ikke registreret | I 1 tilstand |
| ZC4H2zinc finger C4H2-type containing | Ikke registreret | I 1 tilstand |
| ZFHX3zinc finger homeobox 3 | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
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Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger