Požymis
Absent reflexes
Klinikinis pavadinimas: Areflexia
Absence of neurologic reflexes such as the knee-jerk reaction.
Santrauka
- Taip pat vadinama
- Absent tendon reflexes, Absent deep tendon reflexes, Deep tendon reflexes absent, Loss of deep tendon reflexes, Lost deep tendon reflexes
- Kūno sistema
- Abnormality of the nervous system
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
Read the genes linked to Absent reflexes, and the rest of your genome, with one test.
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Įsigyti savo Genome Test266 genų susiję su Absent reflexes
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Absent reflexes. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| AARS1alanyl-tRNA synthetase 1 | Visada | 3 ligose |
| ACER3alkaline ceramidase 3 | Visada | 1 ligoje |
| ACTA1actin alpha 1, skeletal muscle | Visada | 6 ligose |
| ADCY6adenylate cyclase 6 | Visada | 1 ligoje |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Visada | 4 ligose |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Visada | 1 ligoje |
| ALG6ALG6 alpha-1,3-glucosyltransferase | Visada | 1 ligoje |
| AMPD1adenosine monophosphate deaminase 1 | Visada | 1 ligoje |
| ASCC1activating signal cointegrator 1 complex subunit 1 | Visada | 1 ligoje |
| ATP11AATPase phospholipid transporting 11A | Visada | 1 ligoje |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Visada | 3 ligose |
| CDK5cyclin dependent kinase 5 | Visada | 1 ligoje |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Visada | 3 ligose |
| COL6A1collagen type VI alpha 1 chain | Visada | 1 ligoje |
| COQ4coenzyme Q4 | Visada | 1 ligoje |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Visada | 1 ligoje |
| DNAJB2DnaJ heat shock protein family (Hsp40) member B2 | Visada | 1 ligoje |
| DNM1Ldynamin 1L | Visada | 2 ligose |
| EGR2early growth response 2 | Visada | 2 ligose |
| FDXRferredoxin reductase | Visada | 1 ligoje |
| FGD4FYVE, RhoGEF and PH domain containing 4 | Visada | 1 ligoje |
| FLVCR1FLVCR choline and heme transporter 1 | Visada | 2 ligose |
| GANgigaxonin | Visada | 2 ligose |
| GARS1glycyl-tRNA synthetase 1 | Visada | 1 ligoje |
| GCSHglycine cleavage system protein H | Visada | 1 ligoje |
| GDAP1ganglioside induced differentiation associated protein 1 | Visada | 6 ligose |
| GOSR2golgi SNAP receptor complex member 2 | Visada | 2 ligose |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Visada | 2 ligose |
| HK1hexokinase 1 | Visada | 2 ligose |
| HMGCR3-hydroxy-3-methylglutaryl-CoA reductase | Visada | 1 ligoje |
| HSPB8heat shock protein family B (small) member 8 | Visada | 2 ligose |
| INF2inverted formin 2 | Visada | 1 ligoje |
| ISCUiron-sulfur cluster assembly enzyme | Visada | 1 ligoje |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Visada | 1 ligoje |
| LAMA2laminin subunit alpha 2 | Visada | 2 ligose |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Visada | 2 ligose |
| LGI4leucine rich repeat LGI family member 4 | Visada | 1 ligoje |
| MEGF10multiple EGF like domains 10 | Visada | 2 ligose |
| MFN2mitofusin 2 | Visada | 3 ligose |
| MPZmyelin protein zero | Visada | 9 ligose |
Rodyti dar 226 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| NDRG1N-myc downstream regulated 1 | Visada | 1 ligoje |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Visada | 1 ligoje |
| NEFLneurofilament light chain | Visada | 4 ligose |
| NEUROG1neurogenin 1 | Visada | 1 ligoje |
| PDXKpyridoxal kinase | Visada | 1 ligoje |
| PEX12peroxisomal biogenesis factor 12 | Visada | 2 ligose |
| PEX14peroxisomal biogenesis factor 14 | Visada | 1 ligoje |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Visada | 1 ligoje |
| PLEKHG5pleckstrin homology and RhoGEF domain containing G5 | Visada | 2 ligose |
| PMP22peripheral myelin protein 22 | Visada | 5 ligose |
| PNKPpolynucleotide kinase 3'-phosphatase | Visada | 2 ligose |
| PRXperiaxin | Visada | 2 ligose |
| RILPL1Rab interacting lysosomal protein like 1 | Visada | 2 ligose |
| RNU6ATACRNA, U6atac small nuclear | Visada | 1 ligoje |
| SBF1SET binding factor 1 | Visada | 1 ligoje |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Visada | 1 ligoje |
| SCO2synthesis of cytochrome C oxidase 2 | Visada | 2 ligose |
| SCYL2SCY1 like pseudokinase 2 | Visada | 2 ligose |
| SLC12A6solute carrier family 12 member 6 | Visada | 2 ligose |
| SLC25A21solute carrier family 25 member 21 | Visada | 1 ligoje |
| SNAP25synaptosome associated protein 25 | Visada | 1 ligoje |
| SNAP29synaptosome associated protein 29 | Visada | 2 ligose |
| SNUPNsnurportin 1 | Visada | 1 ligoje |
| STAC3SH3 and cysteine rich domain 3 | Visada | 1 ligoje |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Visada | 1 ligoje |
| SYT2synaptotagmin 2 | Visada | 2 ligose |
| TAMM41TAM41 mitochondrial translocator assembly and maintenance homolog | Visada | 1 ligoje |
| TBCKTBC1 domain containing kinase | Visada | 2 ligose |
| TDP1tyrosyl-DNA phosphodiesterase 1 | Visada | 2 ligose |
| TECPR2tectonin beta-propeller repeat containing 2 | Visada | 2 ligose |
| TIMM50translocase of inner mitochondrial membrane 50 | Visada | 1 ligoje |
| TRIM2tripartite motif containing 2 | Visada | 1 ligoje |
| TRIP4thyroid hormone receptor interactor 4 | Visada | 1 ligoje |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Visada | 3 ligose |
| TWNKtwinkle mtDNA helicase | Visada | 4 ligose |
| UBA1ubiquitin like modifier activating enzyme 1 | Visada | 2 ligose |
| VAMP1vesicle associated membrane protein 1 | Visada | 1 ligoje |
| XRCC1X-ray repair cross complementing 1 | Visada | 1 ligoje |
| YARS1tyrosyl-tRNA synthetase 1 | Visada | 1 ligoje |
| APTXaprataxin | Labai dažnai (80–99%) | 1 ligoje |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Labai dažnai (80–99%) | 1 ligoje |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Labai dažnai (80–99%) | 1 ligoje |
| COL4A1collagen type IV alpha 1 chain | Labai dažnai (80–99%) | 1 ligoje |
| CRPPACDP-L-ribitol pyrophosphorylase A | Labai dažnai (80–99%) | 2 ligose |
| DAG1dystroglycan 1 | Labai dažnai (80–99%) | 1 ligoje |
| DNM2dynamin 2 | Labai dažnai (80–99%) | 3 ligose |
| FKRPfukutin related protein | Labai dažnai (80–99%) | 1 ligoje |
| FKTNfukutin | Labai dažnai (80–99%) | 2 ligose |
| GBF1golgi brefeldin A resistant guanine nucleotide exchange factor 1 | Labai dažnai (80–99%) | 1 ligoje |
| GJB1gap junction protein beta 1 | Labai dažnai (80–99%) | 1 ligoje |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Labai dažnai (80–99%) | 2 ligose |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Labai dažnai (80–99%) | 1 ligoje |
| IFRD1interferon related developmental regulator 1 | Labai dažnai (80–99%) | 1 ligoje |
| MPV17mitochondrial inner membrane protein MPV17 | Labai dažnai (80–99%) | 2 ligose |
| MTMR14myotubularin related protein 14 | Labai dažnai (80–99%) | 1 ligoje |
| MTRFRmitochondrial translation release factor in rescue | Labai dažnai (80–99%) | 2 ligose |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Labai dažnai (80–99%) | 2 ligose |
| PIK3R5phosphoinositide-3-kinase regulatory subunit 5 | Labai dažnai (80–99%) | 2 ligose |
| POLGDNA polymerase gamma, catalytic subunit | Labai dažnai (80–99%) | 6 ligose |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Labai dažnai (80–99%) | 1 ligoje |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Labai dažnai (80–99%) | 1 ligoje |
| POMKprotein O-mannose kinase | Labai dažnai (80–99%) | 1 ligoje |
| POMT1protein O-mannosyltransferase 1 | Labai dažnai (80–99%) | 1 ligoje |
| POMT2protein O-mannosyltransferase 2 | Labai dažnai (80–99%) | 2 ligose |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Labai dažnai (80–99%) | 3 ligose |
| RCC1regulator of chromosome condensation 1 | Labai dažnai (80–99%) | 1 ligoje |
| RXYLT1ribitol xylosyltransferase 1 | Labai dažnai (80–99%) | 1 ligoje |
| SETXsenataxin | Labai dažnai (80–99%) | 2 ligose |
| SPTBN4spectrin beta, non-erythrocytic 4 | Labai dažnai (80–99%) | 1 ligoje |
| TFGtrafficking from ER to golgi regulator | Labai dažnai (80–99%) | 2 ligose |
| TTPAalpha tocopherol transfer protein | Labai dažnai (80–99%) | 2 ligose |
| TYMPthymidine phosphorylase | Labai dažnai (80–99%) | 1 ligoje |
| ABHD5abhydrolase domain containing 5, lysophosphatidic acid acyltransferase | Dažnai (30–79%) | 1 ligoje |
| ACO2aconitase 2 | Dažnai (30–79%) | 1 ligoje |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Dažnai (30–79%) | 1 ligoje |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Dažnai (30–79%) | 1 ligoje |
| ANXA11annexin A11 | Dažnai (30–79%) | 1 ligoje |
| ARSIarylsulfatase family member I | Dažnai (30–79%) | 1 ligoje |
| CAPRIN1cell cycle associated protein 1 | Dažnai (30–79%) | 1 ligoje |
| CFL2cofilin 2 | Dažnai (30–79%) | 1 ligoje |
| CNTNAP1contactin associated protein 1 | Dažnai (30–79%) | 2 ligose |
| COG7component of oligomeric golgi complex 7 | Dažnai (30–79%) | 1 ligoje |
| COL12A1collagen type XII alpha 1 chain | Dažnai (30–79%) | 2 ligose |
| COL25A1collagen type XXV alpha 1 chain | Dažnai (30–79%) | 1 ligoje |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Dažnai (30–79%) | 1 ligoje |
| DSTdystonin | Dažnai (30–79%) | 1 ligoje |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Dažnai (30–79%) | 2 ligose |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Dažnai (30–79%) | 1 ligoje |
| ERGIC1endoplasmic reticulum-golgi intermediate compartment 1 | Dažnai (30–79%) | 1 ligoje |
| FBXO28F-box protein 28 | Dažnai (30–79%) | 1 ligoje |
| GAAalpha glucosidase | Dažnai (30–79%) | 2 ligose |
| GFPT1glutamine--fructose-6-phosphate transaminase 1 | Dažnai (30–79%) | 1 ligoje |
| GMPPBGDP-mannose pyrophosphorylase B | Dažnai (30–79%) | 1 ligoje |
| GUK1guanylate kinase 1 | Dažnai (30–79%) | 1 ligoje |
| ITGA7integrin subunit alpha 7 | Dažnai (30–79%) | 1 ligoje |
| KCNJ18potassium inwardly rectifying channel subfamily J member 18 | Dažnai (30–79%) | 1 ligoje |
| LMNAlamin A/C | Dažnai (30–79%) | 2 ligose |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Dažnai (30–79%) | 1 ligoje |
| MMEmembrane metalloendopeptidase | Dažnai (30–79%) | 2 ligose |
| MORC2MORC family CW-type zinc finger 2 | Dažnai (30–79%) | 2 ligose |
| MTM1myotubularin 1 | Dažnai (30–79%) | 1 ligoje |
| MTTPmicrosomal triglyceride transfer protein | Dažnai (30–79%) | 1 ligoje |
| MYL1myosin light chain 1 | Dažnai (30–79%) | 1 ligoje |
| MYL2myosin light chain 2 | Dažnai (30–79%) | 1 ligoje |
| MYO1Hmyosin IH | Dažnai (30–79%) | 1 ligoje |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Dažnai (30–79%) | 1 ligoje |
| PAX7paired box 7 | Dažnai (30–79%) | 1 ligoje |
| PDSS1decaprenyl diphosphate synthase subunit 1 | Dažnai (30–79%) | 1 ligoje |
| PEX10peroxisomal biogenesis factor 10 | Dažnai (30–79%) | 1 ligoje |
| PEX2peroxisomal biogenesis factor 2 | Dažnai (30–79%) | 1 ligoje |
| PMM2phosphomannomutase 2 | Dažnai (30–79%) | 1 ligoje |
| PRNPprion protein (Kanno blood group) | Dažnai (30–79%) | 2 ligose |
| RFC1replication factor C subunit 1 | Dažnai (30–79%) | 1 ligoje |
| RYR1ryanodine receptor 1 | Dažnai (30–79%) | 3 ligose |
| SELENONselenoprotein N | Dažnai (30–79%) | 1 ligoje |
| SH3TC2SH3 domain and tetratricopeptide repeats 2 | Dažnai (30–79%) | 1 ligoje |
| SPEGstriated muscle enriched protein kinase | Dažnai (30–79%) | 2 ligose |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Dažnai (30–79%) | 1 ligoje |
| TNNT1troponin T1, slow skeletal type | Dažnai (30–79%) | 1 ligoje |
| TPM2tropomyosin 2 | Dažnai (30–79%) | 2 ligose |
| TPM3tropomyosin 3 | Dažnai (30–79%) | 3 ligose |
| UNC13Aunc-13 homolog A | Dažnai (30–79%) | 1 ligoje |
| VAPBVAMP associated protein B and C | Dažnai (30–79%) | 2 ligose |
| VPS13Avacuolar protein sorting 13 homolog A | Dažnai (30–79%) | 1 ligoje |
| ABCD3ATP binding cassette subfamily D member 3 | Kartais (5–29%) | 1 ligoje |
| ALDH4A1aldehyde dehydrogenase 4 family member A1 | Kartais (5–29%) | 1 ligoje |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Kartais (5–29%) | 1 ligoje |
| BIN1bridging integrator 1 | Kartais (5–29%) | 2 ligose |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Kartais (5–29%) | 1 ligoje |
| CADM3cell adhesion molecule 3 | Kartais (5–29%) | 1 ligoje |
| CNTN1contactin 1 | Kartais (5–29%) | 1 ligoje |
| CNTNAP2contactin associated protein 2 | Kartais (5–29%) | 1 ligoje |
| COL13A1collagen type XIII alpha 1 chain | Kartais (5–29%) | 1 ligoje |
| COLQcollagen like tail subunit of asymmetric acetylcholinesterase | Kartais (5–29%) | 1 ligoje |
| DHX16DEAH-box helicase 16 | Kartais (5–29%) | 1 ligoje |
| DPYDdihydropyrimidine dehydrogenase | Kartais (5–29%) | 1 ligoje |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Kartais (5–29%) | 1 ligoje |
| ENTPD1ectonucleoside triphosphate diphosphohydrolase 1 | Kartais (5–29%) | 1 ligoje |
| EPG5ectopic P-granules 5 autophagy tethering factor | Kartais (5–29%) | 1 ligoje |
| ERLIN1ER lipid raft associated 1 | Kartais (5–29%) | 1 ligoje |
| FXR1FMR1 autosomal homolog 1 | Kartais (5–29%) | 2 ligose |
| GEMIN5gem nuclear organelle associated protein 5 | Kartais (5–29%) | 1 ligoje |
| GIPC1GIPC PDZ domain containing family member 1 | Kartais (5–29%) | 1 ligoje |
| HINT1histidine triad nucleotide binding protein 1 | Kartais (5–29%) | 1 ligoje |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Kartais (5–29%) | 2 ligose |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Kartais (5–29%) | 1 ligoje |
| KBTBD13kelch repeat and BTB domain containing 13 | Kartais (5–29%) | 1 ligoje |
| KCNK9potassium two pore domain channel subfamily K member 9 | Kartais (5–29%) | 1 ligoje |
| KLHL41kelch like family member 41 | Kartais (5–29%) | 2 ligose |
| LAMB2laminin subunit beta 2 | Kartais (5–29%) | 2 ligose |
| LRP12LDL receptor related protein 12 | Kartais (5–29%) | 2 ligose |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Kartais (5–29%) | 1 ligoje |
| MT-TTmitochondrially encoded tRNA-Thr (ACN) | Kartais (5–29%) | 1 ligoje |
| MYH14myosin heavy chain 14 | Kartais (5–29%) | 1 ligoje |
| MYPNmyopalladin | Kartais (5–29%) | 1 ligoje |
| NEBnebulin | Kartais (5–29%) | 3 ligose |
| NOTCH2NLCnotch 2 N-terminal like C | Kartais (5–29%) | 1 ligoje |
| NUTM2B-AS1NUTM2B antisense RNA 1 | Kartais (5–29%) | 1 ligoje |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Kartais (5–29%) | 1 ligoje |
| PLAAT3phospholipase A and acyltransferase 3 | Kartais (5–29%) | 1 ligoje |
| PLECplectin | Kartais (5–29%) | 1 ligoje |
| PLEKHG4pleckstrin homology and RhoGEF domain containing G4 | Kartais (5–29%) | 1 ligoje |
| PNPLA2patatin like domain 2, triacylglycerol lipase | Kartais (5–29%) | 2 ligose |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Kartais (5–29%) | 1 ligoje |
| PRORPprotein only RNase P catalytic subunit | Kartais (5–29%) | 1 ligoje |
| RHOBTB2Rho related BTB domain containing 2 | Kartais (5–29%) | 1 ligoje |
| RMND1required for meiotic nuclear division 1 homolog | Kartais (5–29%) | 1 ligoje |
| RRM1ribonucleotide reductase catalytic subunit M1 | Kartais (5–29%) | 1 ligoje |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Kartais (5–29%) | 1 ligoje |
| SIL1SIL1 nucleotide exchange factor | Kartais (5–29%) | 1 ligoje |
| SLC1A3solute carrier family 1 member 3 | Kartais (5–29%) | 1 ligoje |
| SLC25A46solute carrier family 25 member 46 | Kartais (5–29%) | 2 ligose |
| SLC2A1solute carrier family 2 member 1 | Kartais (5–29%) | 1 ligoje |
| TBCDtubulin folding cofactor D | Kartais (5–29%) | 1 ligoje |
| TTNtitin | Kartais (5–29%) | 1 ligoje |
| UGDHUDP-glucose 6-dehydrogenase | Kartais (5–29%) | 1 ligoje |
| OPA1OPA1 mitochondrial dynamin like GTPase | Retai (1–4 %) | 1 ligoje |
| PPIBpeptidylprolyl isomerase B | Retai (1–4 %) | 1 ligoje |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Retai (1–4 %) | 1 ligoje |
| SAR1Bsecretion associated Ras related GTPase 1B | Retai (1–4 %) | 1 ligoje |
| ASAH1N-acylsphingosine amidohydrolase 1 | Neužfiksuota | 1 ligoje |
| ATP1A1ATPase Na+/K+ transporting subunit alpha 1 | Neužfiksuota | 1 ligoje |
| ATXN1ataxin 1 | Neužfiksuota | 1 ligoje |
| BICD2BICD cargo adaptor 2 | Neužfiksuota | 1 ligoje |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Neužfiksuota | 1 ligoje |
| CAV3caveolin 3 | Neužfiksuota | 1 ligoje |
| CD59CD59 molecule (CD59 blood group) | Neužfiksuota | 1 ligoje |
| COX6A1cytochrome c oxidase subunit 6A1 | Neužfiksuota | 1 ligoje |
| DCAF8DDB1 and CUL4 associated factor 8 | Neužfiksuota | 1 ligoje |
| ERBB3erb-b2 receptor tyrosine kinase 3 | Neužfiksuota | 1 ligoje |
| FHL1four and a half LIM domains 1 | Neužfiksuota | 1 ligoje |
| FIG4FIG4 phosphoinositide 5-phosphatase | Neužfiksuota | 1 ligoje |
| IBA57iron-sulfur cluster assembly factor IBA57 | Neužfiksuota | 1 ligoje |
| JAG1jagged canonical Notch ligand 1 | Neužfiksuota | 1 ligoje |
| JPH1junctophilin 1 | Neužfiksuota | 1 ligoje |
| KARS1lysyl-tRNA synthetase 1 | Neužfiksuota | 1 ligoje |
| KIF1Akinesin family member 1A | Neužfiksuota | 1 ligoje |
| KIF1Bkinesin family member 1B | Neužfiksuota | 1 ligoje |
| LPIN1lipin 1 | Neužfiksuota | 1 ligoje |
| LRSAM1leucine rich repeat and sterile alpha motif containing 1 | Neužfiksuota | 1 ligoje |
| MARS1methionyl-tRNA synthetase 1 | Neužfiksuota | 1 ligoje |
| MED25mediator complex subunit 25 | Neužfiksuota | 1 ligoje |
| MYOTmyotilin | Neužfiksuota | 1 ligoje |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Neužfiksuota | 1 ligoje |
| PEX1peroxisomal biogenesis factor 1 | Neužfiksuota | 1 ligoje |
| PEX11Bperoxisomal biogenesis factor 11 beta | Neužfiksuota | 1 ligoje |
| PEX3peroxisomal biogenesis factor 3 | Neužfiksuota | 1 ligoje |
| PEX5peroxisomal biogenesis factor 5 | Neužfiksuota | 1 ligoje |
| PLA2G6phospholipase A2 group VI | Neužfiksuota | 1 ligoje |
| PNPLA6patatin like domain 6, lysophospholipase | Neužfiksuota | 1 ligoje |
| PYROXD1pyridine nucleotide-disulphide oxidoreductase domain 1 | Neužfiksuota | 1 ligoje |
| RAB7ARAB7A, member RAS oncogene family | Neužfiksuota | 1 ligoje |
| RAI1retinoic acid induced 1 | Neužfiksuota | 1 ligoje |
| RETREG1reticulophagy regulator 1 | Neužfiksuota | 2 ligose |
| RNF170ring finger protein 170 | Neužfiksuota | 1 ligoje |
| SBF2SET binding factor 2 | Neužfiksuota | 1 ligoje |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Neužfiksuota | 1 ligoje |
| SLC52A2solute carrier family 52 member 2 | Neužfiksuota | 1 ligoje |
| SMN1survival of motor neuron 1, telomeric | Neužfiksuota | 1 ligoje |
| SOX10SRY-box transcription factor 10 | Neužfiksuota | 1 ligoje |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Neužfiksuota | 1 ligoje |
| SURF1SURF1 cytochrome c oxidase assembly factor | Neužfiksuota | 1 ligoje |
| TRIM32tripartite motif containing 32 | Neužfiksuota | 1 ligoje |
| WNK1WNK lysine deficient protein kinase 1 | Neužfiksuota | 1 ligoje |
| ZC4H2zinc finger C4H2-type containing | Neužfiksuota | 1 ligoje |
| ZFHX3zinc finger homeobox 3 | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
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- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.16-c6eea6bf.
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