AtlasKiknek segítünkTudományunkTermékekEredmények
BejelentkezésKérdezzenSzekvenálja genomját↗
Tulajdonság
Abnormal pyramidal sign
Functional neurological abnormalities related to dysfunction of the pyramidal tract.
Összefoglaló
- Más néven
- Corticospinal signs, Pyramidal signs, Pyramidal tract signs
- Szervrendszer
- Abnormality of the nervous system
AtlasKiknek segítünkTudományunkTermékekEredmények
BejelentkezésKérdezzenSzekvenálja genomját↗
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Adja hozzá a .json végződést az oldal címéhez, vagy kérjen application/json típust, hogy JSON-ként olvassa be.
library(jsonlite)
url <- "https://dantelabs.com/traits/abnormal-pyramidal-sign.json"
page <- fromJSON(url)
page$trait$nameAbnormal pyramidal signHP:0007256
AtlasKiknek segítünkTudományunkTermékekEredmények
BejelentkezésKérdezzenSzekvenálja genomját↗
Olvassa el a(z) Abnormal pyramidal sign nevű génhez kapcsolódó információkat, valamint a genomja többi részét egyetlen teszttel.
449 $-tólIngyenes szállítás · Eredmények 6–8 hét alatt
Kérem a Genome Testemet109 condition reports read genes linked to this trait
Dante Labs condition reports look at the genes behind groups of inherited conditions, read from one whole-genome test. Each page says which conditions and genes a report covers, how it is read and what it cannot tell you.
- Inherited Neurodegenerative DisordersReads 71 of these genesAIMP1ASPAHTTMAGNKX6-2POLR3BAbout this report →
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- Basal Ganglia CalcificationReads 7 of these genesNAA60JAM2MYORGPDGFBPDGFRBSLC20A2About this report →
- Other Inherited LeukodystrophiesReads 23 of these genesAIMP1ASPANKX6-2POLR3BHYCC1PEX7About this report →
Show 105 more reports
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- Parkinson DiseaseReads 8 of these genesFBXO7SNCAATP13A2MAPTDNAJC6PLA2G6About this report →
- Rare Hereditary Peripheral NeuropathiesReads 29 of these genesNDUFA13POLR3BSLC19A3SPG11PEX7SPTAN1About this report →
- Familial Hemiplegic MigraineReads 3 of these genesATP1A2CACNA1ASCN1AAbout this report →
- Hereditary Spastic ParaplegiaReads 13 of these genesMAGSPG11ATP13A2ERLIN2PLP1SPG21About this report →
- Epilepsy (Full Panel)Reads 22 of these genesALG13SPTAN1TBC1D24ARXDMXL2MDH2About this report →
- Hereditary Episodic AtaxiasReads 3 of these genesCACNA1ASCN2ASLC1A3About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 11 of these genesTHG1LTTPAVPS13DVPS41CYP27A1SACSAbout this report →
- Cerebral Arteriopathy with Subcortical Infarcts and LeukoencephalopathyReads 2 of these genesHTRA1NOTCH3About this report →
- Sandhoff Disease and GM2 Activator DeficiencyReads 2 of these genesGM2AHEXBAbout this report →
- Pelizaeus-Merzbacher Disease & Hypomyelinating LeukodystrophiesReads 7 of these genesAIMP1POLR3BHYCC1PLP1HSPD1EPRS1About this report →
- DNA Repair DiseaseReads 9 of these genesSETXBRCA2ERCC2ERCC3GTF2H5MLH1About this report →
- Rare Monogenic Autoinflammatory DiseasesReads 8 of these genesADARIFIH1RNASEH2ARNASEH2BRNASEH2CRNU7-1About this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 8 of these genesBCAP31PRKRASLC2A1SLC6A3WARS2ATP1A3About this report →
- Neurodegeneration with Brain Iron Accumulation (NBIA)Reads 4 of these genesATP13A2PANK2C19orf12PLA2G6About this report →
- Alpha-Mannosidosis and Other GlycoproteinosesReads 3 of these genesNAGAFUCA1MAN2B1About this report →
- Colorectal Cancer & PolyposisReads 3 of these genesMUTYHPOLD1POLEAbout this report →
- Amyotrophic Lateral Sclerosis (ALS)Reads 6 of these genesSOD1SPG11ALS2SETXVAPBSQSTM1About this report →
- Congenital Muscular DystrophiesReads 6 of these genesFKRPGMPPBPOMGNT1POMKPOMT1POMT2About this report →
- Other Inborn Errors of ImmunityReads 16 of these genesADARATMC4AFASIFIH1IL10About this report →
- Leigh SyndromeReads 9 of these genesNDUFA13SLC19A3ETHE1MTFMTMTRFRTACO1About this report →
- Primary Mitochondrial DiseaseReads 12 of these genesNDUFA13COA8COQ2LIG3MTFMTMTRFRAbout this report →
- Complex Neurodevelopmental Disorder With Motor FeaturesReads 3 of these genesADD3CACNA1AKMT2BAbout this report →
- Alexander DiseaseReads 1 of these genesGFAPAbout this report →
- Ataxia-TelangiectasiaReads 1 of these genesATMAbout this report →
- ATP1A2-Related Fetal Akinesia with PolymicrogyriaReads 1 of these genesATP1A2About this report →
- Canavan DiseaseReads 1 of these genesASPAAbout this report →
- Cerebrotendinous XanthomatosisReads 1 of these genesCYP27A1About this report →
- Deafness-Dystonia-Optic Neuronopathy SyndromeReads 1 of these genesTIMM8AAbout this report →
- Dopamine Transporter Deficiency SyndromeReads 1 of these genesSLC6A3About this report →
- Dravet SyndromeReads 1 of these genesSCN1AAbout this report →
- Dyschromatosis Symmetrica HereditariaReads 1 of these genesADARAbout this report →
- Familial Mediterranean FeverReads 1 of these genesMEFVAbout this report →
- Genetic Prion Disease (incl. Fatal Familial Insomnia)Reads 1 of these genesPRNPAbout this report →
- Huntington DiseaseReads 1 of these genesHTTAbout this report →
- MDPL SyndromeReads 1 of these genesPOLD1About this report →
- Mucopolysaccharidosis Type I (Hurler and Scheie Syndromes)Reads 1 of these genesIDUAAbout this report →
- P5CS Deficiency (ALDH18A1-Related)Reads 1 of these genesALDH18A1About this report →
- POLR3B-Related DisorderReads 1 of these genesPOLR3BAbout this report →
- Primary Microcephaly 26 (LMNB1)Reads 1 of these genesLMNB1About this report →
- RTTN-Related Microcephalic Primordial DwarfismReads 1 of these genesRTTNAbout this report →
- UBTF-Related NeuroregressionReads 1 of these genesUBTFAbout this report →
- Lysosomal Storage DiseaseReads 7 of these genesGM2ANAGACYP27A1HEXBIDUAFUCA1About this report →
- Charcot-Marie-Tooth DiseaseReads 7 of these genesPOLR3BSPG11SPTAN1BSCL2SETXAARS1About this report →
- Autoimmune Lymphoproliferative Syndrome (ALPS)Reads 2 of these genesFASKRASAbout this report →
- DOORS SyndromeReads 1 of these genesTBC1D24About this report →
- Hereditary Breast and Ovarian Cancer (BRCA1/2)Reads 1 of these genesBRCA2About this report →
- Hereditary FibromatosesReads 1 of these genesPDGFRBAbout this report →
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- Autoimmune DiseaseReads 3 of these genesFASKRASTREX1About this report →
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- Moyamoya DiseaseReads 1 of these genesSAMHD1About this report →
- Thiamine Transporter and Metabolism DisordersReads 1 of these genesSLC19A3About this report →
- MTOR Pathway Megalencephaly and Overgrowth DisordersReads 1 of these genesPIK3CAAbout this report →
- Inflammatory Bowel Diseases (IBD)Reads 1 of these genesIL10About this report →
- Loeys-Dietz SyndromeReads 1 of these genesTGFBR2About this report →
- Peroxisomal Enzyme Disorders & Refsum DiseaseReads 1 of these genesPHYHAbout this report →
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- Severe Congenital NeutropeniaReads 1 of these genesCLPBAbout this report →
- Urea Cycle DisorderReads 1 of these genesSLC25A15About this report →
- Aortic AneurysmReads 1 of these genesTGFBR2About this report →
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- Hereditary Optic NeuropathyReads 1 of these genesATP1A3About this report →
- Neuronal Ceroid LipofuscinosisReads 1 of these genesATP13A2About this report →
- Complex Cortical Dysplasia and Frontoparietal PolymicrogyriaReads 1 of these genesADGRG1About this report →
- Glycogen Storage DiseaseReads 1 of these genesGBE1About this report →
- Cutis LaxaReads 1 of these genesALDH18A1About this report →
- Fatty Acid Oxidation & Carnitine Cycle DisordersReads 1 of these genesACADSAbout this report →
- Inherited Complement and Properdin DeficienciesReads 1 of these genesC4AAbout this report →
- Fanconi AnemiaReads 1 of these genesBRCA2About this report →
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- Diabetes MellitusReads 1 of these genesBSCL2About this report →
- Osteogenesis ImperfectaReads 1 of these genesIFIH1About this report →
- Female InfertilityReads 1 of these genesATMAbout this report →
- Hypertrophic CardiomyopathyReads 1 of these genesKRASAbout this report →
- Retinitis PigmentosaReads 1 of these genesPOMGNT1About this report →
Olvassa el a(z) Abnormal pyramidal sign nevű génhez kapcsolódó információkat, valamint a genomja többi részét egyetlen teszttel.
449 $-tólIngyenes szállítás · Eredmények 6–8 hét alatt
Kérem a Genome Testemet213 gén kapcsolódik ehhez: Abnormal pyramidal sign
Ezeknek a géneknek a változásai olyan ritka betegségeket okoznak, amelyekben előfordul a(z) Abnormal pyramidal sign. A tulajdonsággal rendelkező emberek többségének nincs ezek közül egyik betegsége sem, a listán szereplő gének pedig semmit nem mondanak el senki saját genomjáról.
| Gén | Milyen gyakran fordul elő | Betegségek |
|---|---|---|
| ABCB1ATP binding cassette subfamily B member 1 | Mindig | 1 betegségben |
| AIMP1aminoacyl tRNA synthetase complex interacting multifunctional protein 1 | Mindig | 1 betegségben |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Mindig | 1 betegségben |
| ASPAaspartoacylase | Mindig | 1 betegségben |
| BCAP31B cell receptor associated protein 31 | Mindig | 2 betegségben |
| CCT3chaperonin containing TCP1 subunit 3 | Mindig | 1 betegségben |
| CHP1calcineurin like EF-hand protein 1 | Mindig | 1 betegségben |
| FBXO7F-box protein 7 | Mindig | 1 betegségben |
| HTRA1HtrA serine peptidase 1 | Mindig | 2 betegségben |
| HTThuntingtin | Mindig | 1 betegségben |
| KARS1lysyl-tRNA synthetase 1 | Mindig | 1 betegségben |
| MAGmyelin associated glycoprotein | Mindig | 2 betegségben |
| NDUFA13NADH:ubiquinone oxidoreductase subunit A13 | Mindig | 1 betegségben |
| NKX6-2NK6 homeobox 2 | Mindig | 2 betegségben |
| NOTCH3notch receptor 3 | Mindig | 1 betegségben |
| PLAAphospholipase A2 activating protein | Mindig | 1 betegségben |
| POLR3BRNA polymerase III subunit B | Mindig | 1 betegségben |
| RTTNrotatin | Mindig | 2 betegségben |
| SLC19A3solute carrier family 19 member 3 | Mindig | 1 betegségben |
| SLC25A15solute carrier family 25 member 15 | Mindig | 2 betegségben |
| SNCAsynuclein alpha | Mindig | 1 betegségben |
| SOD1superoxide dismutase 1 | Mindig | 1 betegségben |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Mindig | 1 betegségben |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Nagyon gyakran (80–99%) | 2 betegségben |
| ATP13A2ATPase cation transporting 13A2 | Nagyon gyakran (80–99%) | 3 betegségben |
| ATXN3ataxin 3 | Nagyon gyakran (80–99%) | 3 betegségben |
| ERLIN2ER lipid raft associated 2 | Nagyon gyakran (80–99%) | 1 betegségben |
| GBE11,4-alpha-glucan branching enzyme 1 | Nagyon gyakran (80–99%) | 1 betegségben |
| GM2Aganglioside GM2 activator | Nagyon gyakran (80–99%) | 2 betegségben |
| HYCC1hyccin PI4KA lipid kinase complex subunit 1 | Nagyon gyakran (80–99%) | 2 betegségben |
| MAPTmicrotubule associated protein tau | Nagyon gyakran (80–99%) | 3 betegségben |
| NAGAalpha-N-acetylgalactosaminidase | Nagyon gyakran (80–99%) | 1 betegségben |
| PANK2pantothenate kinase 2 | Nagyon gyakran (80–99%) | 2 betegségben |
| PEX7peroxisomal biogenesis factor 7 | Nagyon gyakran (80–99%) | 1 betegségben |
| PHYHphytanoyl-CoA 2-hydroxylase | Nagyon gyakran (80–99%) | 1 betegségben |
| PLP1proteolipid protein 1 | Nagyon gyakran (80–99%) | 2 betegségben |
| SOX10SRY-box transcription factor 10 | Nagyon gyakran (80–99%) | 1 betegségben |
| SPG21SPG21 abhydrolase domain containing, maspardin | Nagyon gyakran (80–99%) | 1 betegségben |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Nagyon gyakran (80–99%) | 1 betegségben |
| TBC1D24TBC1 domain family member 24 | Nagyon gyakran (80–99%) | 1 betegségben |
További 173 gén megjelenítése
| Gén | Milyen gyakran fordul elő | Betegségek |
|---|---|---|
| THG1LtRNA-histidine guanylyltransferase 1 like | Nagyon gyakran (80–99%) | 1 betegségben |
| TTPAalpha tocopherol transfer protein | Nagyon gyakran (80–99%) | 1 betegségben |
| UBTFupstream binding transcription factor | Nagyon gyakran (80–99%) | 2 betegségben |
| VPS13Dvacuolar protein sorting 13 homolog D | Nagyon gyakran (80–99%) | 2 betegségben |
| VPS41VPS41 subunit of HOPS complex | Nagyon gyakran (80–99%) | 1 betegségben |
| ACADSacyl-CoA dehydrogenase short chain | Gyakran (30–79%) | 1 betegségben |
| ADD3adducin 3 | Gyakran (30–79%) | 1 betegségben |
| ADGRG1adhesion G protein-coupled receptor G1 | Gyakran (30–79%) | 1 betegségben |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Gyakran (30–79%) | 1 betegségben |
| ARXaristaless related homeobox | Gyakran (30–79%) | 1 betegségben |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Gyakran (30–79%) | 2 betegségben |
| C19orf12chromosome 19 open reading frame 12 | Gyakran (30–79%) | 1 betegségben |
| CLPBClpB family mitochondrial disaggregase | Gyakran (30–79%) | 1 betegségben |
| COA8cytochrome c oxidase assembly factor 8 | Gyakran (30–79%) | 1 betegségben |
| COQ2coenzyme Q2, polyprenyltransferase | Gyakran (30–79%) | 2 betegségben |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Gyakran (30–79%) | 2 betegségben |
| DMXL2Dmx like 2 | Gyakran (30–79%) | 1 betegségben |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Gyakran (30–79%) | 2 betegségben |
| ETHE1ETHE1 persulfide dioxygenase | Gyakran (30–79%) | 1 betegségben |
| FKRPfukutin related protein | Gyakran (30–79%) | 1 betegségben |
| GBA2glucosylceramidase beta 2 | Gyakran (30–79%) | 2 betegségben |
| GFAPglial fibrillary acidic protein | Gyakran (30–79%) | 1 betegségben |
| GMPPBGDP-mannose pyrophosphorylase B | Gyakran (30–79%) | 1 betegségben |
| HEXBhexosaminidase subunit beta | Gyakran (30–79%) | 1 betegségben |
| HSPD1heat shock protein family D (Hsp60) member 1 | Gyakran (30–79%) | 1 betegségben |
| IDUAalpha-L-iduronidase | Gyakran (30–79%) | 2 betegségben |
| LIG3DNA ligase 3 | Gyakran (30–79%) | 1 betegségben |
| LMNB1lamin B1 | Gyakran (30–79%) | 1 betegségben |
| MDH2malate dehydrogenase 2 | Gyakran (30–79%) | 1 betegségben |
| MTFMTmitochondrial methionyl-tRNA formyltransferase | Gyakran (30–79%) | 1 betegségben |
| MTRFRmitochondrial translation release factor in rescue | Gyakran (30–79%) | 1 betegségben |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Gyakran (30–79%) | 3 betegségben |
| PEX10peroxisomal biogenesis factor 10 | Gyakran (30–79%) | 1 betegségben |
| PLA2G6phospholipase A2 group VI | Gyakran (30–79%) | 2 betegségben |
| PODXLpodocalyxin like | Gyakran (30–79%) | 1 betegségben |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Gyakran (30–79%) | 1 betegségben |
| POMKprotein O-mannose kinase | Gyakran (30–79%) | 1 betegségben |
| POMT1protein O-mannosyltransferase 1 | Gyakran (30–79%) | 1 betegségben |
| POMT2protein O-mannosyltransferase 2 | Gyakran (30–79%) | 1 betegségben |
| PRKRAprotein activator of interferon induced protein kinase EIF2AK2 | Gyakran (30–79%) | 2 betegségben |
| PRNPprion protein (Kanno blood group) | Gyakran (30–79%) | 2 betegségben |
| SACSsacsin molecular chaperone | Gyakran (30–79%) | 1 betegségben |
| SETXsenataxin | Gyakran (30–79%) | 3 betegségben |
| SLC16A2solute carrier family 16 member 2 | Gyakran (30–79%) | 1 betegségben |
| SLC2A1solute carrier family 2 member 1 | Gyakran (30–79%) | 4 betegségben |
| SLC6A3solute carrier family 6 member 3 | Gyakran (30–79%) | 2 betegségben |
| SNORD118small nucleolar RNA, C/D box 118 | Gyakran (30–79%) | 2 betegségben |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Gyakran (30–79%) | 1 betegségben |
| SYNJ1synaptojanin 1 | Gyakran (30–79%) | 1 betegségben |
| TACO1translational activator of cytochrome c oxidase I | Gyakran (30–79%) | 1 betegségben |
| TAF2TATA-box binding protein associated factor 2 | Gyakran (30–79%) | 2 betegségben |
| TBPTATA-box binding protein | Gyakran (30–79%) | 1 betegségben |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Gyakran (30–79%) | 1 betegségben |
| TTRtransthyretin | Gyakran (30–79%) | 1 betegségben |
| VAPBVAMP associated protein B and C | Gyakran (30–79%) | 1 betegségben |
| VPS13Cvacuolar protein sorting 13 homolog C | Gyakran (30–79%) | 1 betegségben |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Gyakran (30–79%) | 1 betegségben |
| AARS1alanyl-tRNA synthetase 1 | Néha (5–29%) | 1 betegségben |
| ADARadenosine deaminase RNA specific | Néha (5–29%) | 1 betegségben |
| ATMATM serine/threonine kinase | Néha (5–29%) | 1 betegségben |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Néha (5–29%) | 1 betegségben |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Néha (5–29%) | 1 betegségben |
| BMPR1Abone morphogenetic protein receptor type 1A | Néha (5–29%) | 1 betegségben |
| BRCA2BRCA2 DNA repair associated | Néha (5–29%) | 1 betegségben |
| C4Acomplement C4A (Chido/Rodgers blood group) | Néha (5–29%) | 1 betegségben |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Néha (5–29%) | 1 betegségben |
| CARS1cysteinyl-tRNA synthetase 1 | Néha (5–29%) | 2 betegségben |
| CCR1C-C motif chemokine receptor 1 | Néha (5–29%) | 1 betegségben |
| CD4CD4 molecule | Néha (5–29%) | 1 betegségben |
| CHEK2checkpoint kinase 2 | Néha (5–29%) | 1 betegségben |
| CMPK2cytidine/uridine monophosphate kinase 2 | Néha (5–29%) | 1 betegségben |
| COQ8Acoenzyme Q8A | Néha (5–29%) | 2 betegségben |
| CTDP1CTD phosphatase 1 | Néha (5–29%) | 1 betegségben |
| DBR1debranching RNA lariats 1 | Néha (5–29%) | 1 betegségben |
| DPYSdihydropyrimidinase | Néha (5–29%) | 1 betegségben |
| EPCAMepithelial cell adhesion molecule | Néha (5–29%) | 1 betegségben |
| EPRS1glutamyl-prolyl-tRNA synthetase 1 | Néha (5–29%) | 1 betegségben |
| ERAP1endoplasmic reticulum aminopeptidase 1 | Néha (5–29%) | 1 betegségben |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Néha (5–29%) | 1 betegségben |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Néha (5–29%) | 1 betegségben |
| FASFas cell surface death receptor | Néha (5–29%) | 1 betegségben |
| FUCA1alpha-L-fucosidase 1 | Néha (5–29%) | 1 betegségben |
| GTF2E2general transcription factor IIE subunit 2 | Néha (5–29%) | 1 betegségben |
| GTF2H5general transcription factor IIH subunit 5 | Néha (5–29%) | 1 betegségben |
| HLA-Bmajor histocompatibility complex, class I, B | Néha (5–29%) | 1 betegségben |
| IFIH1interferon induced with helicase C domain 1 | Néha (5–29%) | 1 betegségben |
| IFNGR1interferon gamma receptor 1 | Néha (5–29%) | 1 betegségben |
| IL10interleukin 10 | Néha (5–29%) | 1 betegségben |
| IL12Ainterleukin 12A | Néha (5–29%) | 1 betegségben |
| IL12A-AS1IL12A antisense RNA 1 | Néha (5–29%) | 1 betegségben |
| IL23Rinterleukin 23 receptor | Néha (5–29%) | 1 betegségben |
| IRF4interferon regulatory factor 4 | Néha (5–29%) | 1 betegségben |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Néha (5–29%) | 1 betegségben |
| JAM2junctional adhesion molecule 2 | Néha (5–29%) | 2 betegségben |
| KIF1Ckinesin family member 1C | Néha (5–29%) | 1 betegségben |
| KLRC4killer cell lectin like receptor C4 | Néha (5–29%) | 1 betegségben |
| KMT2Blysine methyltransferase 2B | Néha (5–29%) | 1 betegségben |
| KRASKRas proto-oncogene, GTPase | Néha (5–29%) | 1 betegségben |
| LSM11LSM11, U7 small nuclear RNA associated | Néha (5–29%) | 1 betegségben |
| MEFVMEFV innate immunity regulator, pyrin | Néha (5–29%) | 1 betegségben |
| MLH1mutL homolog 1 | Néha (5–29%) | 1 betegségben |
| MORC2MORC family CW-type zinc finger 2 | Néha (5–29%) | 1 betegségben |
| MPLKIPM-phase specific PLK1 interacting protein | Néha (5–29%) | 1 betegségben |
| MSH2mutS homolog 2 | Néha (5–29%) | 1 betegségben |
| MSH6mutS homolog 6 | Néha (5–29%) | 1 betegségben |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Néha (5–29%) | 1 betegségben |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Néha (5–29%) | 1 betegségben |
| MUTYHmutY DNA glycosylase | Néha (5–29%) | 1 betegségben |
| MYORGmyogenesis regulating glycosidase | Néha (5–29%) | 3 betegségben |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Néha (5–29%) | 1 betegségben |
| NPATnuclear protein, coactivator of histone transcription | Néha (5–29%) | 1 betegségben |
| PDGFBplatelet derived growth factor subunit B | Néha (5–29%) | 2 betegségben |
| PDGFRBplatelet derived growth factor receptor beta | Néha (5–29%) | 2 betegségben |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Néha (5–29%) | 1 betegségben |
| PIK3R5phosphoinositide-3-kinase regulatory subunit 5 | Néha (5–29%) | 1 betegségben |
| PMS1PMS1 homolog 1, mismatch repair system component | Néha (5–29%) | 1 betegségben |
| PMS2PMS1 homolog 2, mismatch repair system component | Néha (5–29%) | 1 betegségben |
| PNKPpolynucleotide kinase 3'-phosphatase | Néha (5–29%) | 1 betegségben |
| POLD1DNA polymerase delta 1, catalytic subunit | Néha (5–29%) | 1 betegségben |
| POLEDNA polymerase epsilon, catalytic subunit | Néha (5–29%) | 1 betegségben |
| PPP2R2Bprotein phosphatase 2 regulatory subunit Bbeta | Néha (5–29%) | 1 betegségben |
| RHOBTB2Rho related BTB domain containing 2 | Néha (5–29%) | 1 betegségben |
| RNASEH1ribonuclease H1 | Néha (5–29%) | 2 betegségben |
| RNASEH2Aribonuclease H2 subunit A | Néha (5–29%) | 1 betegségben |
| RNASEH2Bribonuclease H2 subunit B | Néha (5–29%) | 1 betegségben |
| RNASEH2Cribonuclease H2 subunit C | Néha (5–29%) | 1 betegségben |
| RNF113Aring finger protein 113A | Néha (5–29%) | 1 betegségben |
| RNU7-1RNA, U7 small nuclear 1 | Néha (5–29%) | 1 betegségben |
| RORARAR related orphan receptor A | Néha (5–29%) | 1 betegségben |
| RPS20ribosomal protein S20 | Néha (5–29%) | 1 betegségben |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Néha (5–29%) | 1 betegségben |
| RRP12ribosomal RNA processing 12 homolog | Néha (5–29%) | 1 betegségben |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Néha (5–29%) | 1 betegségben |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Néha (5–29%) | 1 betegségben |
| SEMA4Asemaphorin 4A | Néha (5–29%) | 1 betegségben |
| SLC1A3solute carrier family 1 member 3 | Néha (5–29%) | 1 betegségben |
| SLC20A2solute carrier family 20 member 2 | Néha (5–29%) | 2 betegségben |
| SQSTM1sequestosome 1 | Néha (5–29%) | 1 betegségben |
| STAT4signal transducer and activator of transcription 4 | Néha (5–29%) | 1 betegségben |
| TARS1threonyl-tRNA synthetase 1 | Néha (5–29%) | 1 betegségben |
| TGFBR2transforming growth factor beta receptor 2 | Néha (5–29%) | 1 betegségben |
| THAP11THAP domain containing 11 | Néha (5–29%) | 1 betegségben |
| TLR4toll like receptor 4 | Néha (5–29%) | 1 betegségben |
| TMEM106Btransmembrane protein 106B | Néha (5–29%) | 1 betegségben |
| TREX1three prime repair exonuclease 1 | Néha (5–29%) | 1 betegségben |
| UBAC2UBA domain containing 2 | Néha (5–29%) | 1 betegségben |
| XPR1xenotropic and polytropic retrovirus receptor 1 | Néha (5–29%) | 2 betegségben |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Ritkán (1–4%) | 1 betegségben |
| CAMTA1calmodulin binding transcription activator 1 | Ritkán (1–4%) | 1 betegségben |
| CHD2chromodomain helicase DNA binding protein 2 | Ritkán (1–4%) | 1 betegségben |
| NEXMIFneurite extension and migration factor | Ritkán (1–4%) | 1 betegségben |
| POU4F1POU class 4 homeobox 1 | Ritkán (1–4%) | 1 betegségben |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Ritkán (1–4%) | 2 betegségben |
| SLC6A1solute carrier family 6 member 1 | Ritkán (1–4%) | 1 betegségben |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Ritkán (1–4%) | 1 betegségben |
| TTBK2tau tubulin kinase 2 | Ritkán (1–4%) | 1 betegségben |
| ATXN10ataxin 10 | Nincs rögzítve | 1 betegségben |
| ATXN8ataxin 8 | Nincs rögzítve | 1 betegségben |
| ATXN8OSATXN8 opposite strand lncRNA | Nincs rögzítve | 1 betegségben |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Nincs rögzítve | 1 betegségben |
| CTC1CST telomere replication complex component 1 | Nincs rögzítve | 1 betegségben |
| ELOVL4ELOVL fatty acid elongase 4 | Nincs rögzítve | 1 betegségben |
| GANgigaxonin | Nincs rögzítve | 1 betegségben |
| GLRX5glutaredoxin 5 | Nincs rögzítve | 1 betegségben |
| GRM1glutamate metabotropic receptor 1 | Nincs rögzítve | 1 betegségben |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Nincs rögzítve | 1 betegségben |
| L2HGDHL-2-hydroxyglutarate dehydrogenase | Nincs rögzítve | 1 betegségben |
| MAN2B1mannosidase alpha class 2B member 1 | Nincs rögzítve | 1 betegségben |
| NALCNsodium leak channel, non-selective | Nincs rögzítve | 1 betegségben |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Nincs rögzítve | 1 betegségben |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Nincs rögzítve | 1 betegségben |
| SLC12A5solute carrier family 12 member 5 | Nincs rögzítve | 1 betegségben |
| VWA3Bvon Willebrand factor A domain containing 3B | Nincs rögzítve | 1 betegségben |
Az, hogy milyen gyakran fordul elő a gén valamelyik állapotával élő emberek körében (a leggyakoribb érték, ahogyan a Human Phenotype Ontology rögzíti). Ezek az oldalak tulajdonságokat és az azok mögött álló kutatásokat ismertetik; nem diagnózist jelentenek. A tünetekkel kapcsolatban orvoshoz vagy genetikai tanácsadóhoz érdemes fordulni.
Szűkebb tulajdonságok
Tágabb tulajdonságok
Forrás
- Human Phenotype Ontology, 2026-09-01 kiadás: a tulajdonság, a nevei, a definíciója és a hozzá kapcsolt gének. További információ: hpo.jax.org.
- Adatkiadás: 2026.10.19-9814e911.
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