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Egenskap
Abnormal pyramidal sign
Functional neurological abnormalities related to dysfunction of the pyramidal tract.
Sammanfattning
- Även kallad
- Corticospinal signs, Pyramidal signs, Pyramidal tract signs
- Kroppssystem
- Abnormality of the nervous system
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Den här sidan som data
Lägg till .json i sidans adress, eller begär application/json, för att läsa den som JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/abnormal-pyramidal-sign.json"
page <- fromJSON(url)
page$trait$nameAbnormal pyramidal signHP:0007256
AtlasVem vi hjälperVår vetenskapProdukterResultat
Logga inFrågaSekvensera ditt genom↗
Läs generna kopplade till Abnormal pyramidal sign, och resten av ditt genom, med ett enda test.
Från 449 $Fri frakt · Resultat inom 6–8 veckor
Beställ mitt Genome Test109 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 →
- Aicardi-Goutieres SyndromeReads 8 of these genesADARIFIH1RNASEH2ARNASEH2BRNASEH2CRNU7-1About this report →
- Basal Ganglia CalcificationReads 7 of these genesNAA60JAM2MYORGPDGFBPDGFRBSLC20A2About this report →
- Other Inherited LeukodystrophiesReads 23 of these genesAIMP1ASPANKX6-2POLR3BHYCC1PEX7About this report →
Show 105 more reports
- Lynch SyndromeReads 5 of these genesEPCAMMLH1MSH2MSH6PMS2About this report →
- Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)Reads 13 of these genesATXN3TBPATP1A3CACNA1AITPR1PPP2R2BAbout this report →
- 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 →
- Hereditary Mixed Polyposis SyndromeReads 1 of these genesBMPR1AAbout this report →
- Juvenile Polyposis SyndromeReads 1 of these genesBMPR1AAbout this report →
- Breast and Ovarian Cancer Genes Beyond BRCA1/2Reads 2 of these genesATMCHEK2About this report →
- Autoimmune DiseaseReads 3 of these genesFASKRASTREX1About this report →
- Mendelian Susceptibility to Mycobacterial Disease (MSMD)Reads 2 of these genesIFNGR1IL23RAbout this report →
- Congenital Disorders of GlycosylationReads 6 of these genesALG13FKRPGMPPBPOMGNT1POMT1POMT2About this report →
- Type I InterferonopathiesReads 2 of these genesIFIH1TREX1About this report →
- Stargardt DiseaseReads 1 of these genesELOVL4About this report →
- Thyroid Hormone Resistance, Transport & Metabolism DefectsReads 1 of these genesSLC16A2About this report →
- Frontotemporal DementiaReads 2 of these genesMAPTSQSTM1About this report →
- Zellweger Spectrum & Peroxisome Biogenesis DisordersReads 2 of these genesPEX7PEX10About this report →
- Limb-Girdle Muscular DystrophyReads 3 of these genesFKRPGMPPBPOMGNT1About this report →
- Adult-Onset Leukodystrophies (CSF1R, LMNB1, Nasu-Hakola)Reads 1 of these genesLMNB1About this report →
- Familial Paget Disease of BoneReads 1 of these genesSQSTM1About this report →
- 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 →
- Systemic Lupus ErythematosusReads 1 of these genesTREX1About this report →
- Spinal Muscular AtrophyReads 2 of these genesSPTAN1BSCL2About this report →
- Waardenburg SyndromeReads 1 of these genesSOX10About this report →
- Hereditary Sideroblastic AnaemiasReads 1 of these genesGLRX5About this report →
- Purine & Pyrimidine Metabolism DisordersReads 1 of these genesDPYSAbout this report →
- Anterior Segment Dysgenesis, Axenfeld-Rieger Syndrome & AniridiaReads 1 of these genesITPR1About this report →
- Intellectual DisabilityReads 5 of these genesSLC16A2SCN2AAP2M1NEXMIFSYNGAP1About this report →
- Marfan Like SyndromesReads 1 of these genesTGFBR2About this report →
- Hereditary AmyloidosisReads 1 of these genesTTRAbout this report →
- LipodystrophyReads 1 of these genesBSCL2About this report →
- 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 →
- Congenital Diarrhoeas & EnteropathiesReads 1 of these genesEPCAMAbout this report →
- 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 →
- Neonatal Diabetes MellitusReads 1 of these genesBSCL2About this report →
- Noonan SyndromeReads 1 of these genesKRASAbout this report →
- Dyskeratosis CongenitaReads 1 of these genesCTC1About this report →
- Lissencephaly Spectrum DisordersReads 1 of these genesARXAbout this report →
- Hearing Loss and DeafnessReads 2 of these genesKARS1TBC1D24About this report →
- Congenital Myasthenic SyndromeReads 1 of these genesGMPPBAbout this report →
- VitreoretinopathyReads 1 of these genesCTC1About this report →
- Microphthalmia, Anophthalmia & ColobomaReads 1 of these genesERCC2About this report →
- Nephrotic SyndromeReads 1 of these genesPODXLAbout this report →
- 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 →
Läs generna kopplade till Abnormal pyramidal sign, och resten av ditt genom, med ett enda test.
Från 449 $Fri frakt · Resultat inom 6–8 veckor
Beställ mitt Genome Test213 gener kopplade till Abnormal pyramidal sign
Förändringar i dessa gener orsakar sällsynta tillstånd där Abnormal pyramidal sign förekommer. De flesta med denna egenskap har inget av dessa tillstånd, och en gen på listan säger ingenting om någons eget genom.
| Gen | Hur ofta den förekommer | Tillstånd |
|---|---|---|
| ABCB1ATP binding cassette subfamily B member 1 | Alltid | I 1 tillstånd |
| AIMP1aminoacyl tRNA synthetase complex interacting multifunctional protein 1 | Alltid | I 1 tillstånd |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Alltid | I 1 tillstånd |
| ASPAaspartoacylase | Alltid | I 1 tillstånd |
| BCAP31B cell receptor associated protein 31 | Alltid | I 2 tillstånd |
| CCT3chaperonin containing TCP1 subunit 3 | Alltid | I 1 tillstånd |
| CHP1calcineurin like EF-hand protein 1 | Alltid | I 1 tillstånd |
| FBXO7F-box protein 7 | Alltid | I 1 tillstånd |
| HTRA1HtrA serine peptidase 1 | Alltid | I 2 tillstånd |
| HTThuntingtin | Alltid | I 1 tillstånd |
| KARS1lysyl-tRNA synthetase 1 | Alltid | I 1 tillstånd |
| MAGmyelin associated glycoprotein | Alltid | I 2 tillstånd |
| NDUFA13NADH:ubiquinone oxidoreductase subunit A13 | Alltid | I 1 tillstånd |
| NKX6-2NK6 homeobox 2 | Alltid | I 2 tillstånd |
| NOTCH3notch receptor 3 | Alltid | I 1 tillstånd |
| PLAAphospholipase A2 activating protein | Alltid | I 1 tillstånd |
| POLR3BRNA polymerase III subunit B | Alltid | I 1 tillstånd |
| RTTNrotatin | Alltid | I 2 tillstånd |
| SLC19A3solute carrier family 19 member 3 | Alltid | I 1 tillstånd |
| SLC25A15solute carrier family 25 member 15 | Alltid | I 2 tillstånd |
| SNCAsynuclein alpha | Alltid | I 1 tillstånd |
| SOD1superoxide dismutase 1 | Alltid | I 1 tillstånd |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Alltid | I 1 tillstånd |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Mycket ofta (80–99 %) | I 2 tillstånd |
| ATP13A2ATPase cation transporting 13A2 | Mycket ofta (80–99 %) | I 3 tillstånd |
| ATXN3ataxin 3 | Mycket ofta (80–99 %) | I 3 tillstånd |
| ERLIN2ER lipid raft associated 2 | Mycket ofta (80–99 %) | I 1 tillstånd |
| GBE11,4-alpha-glucan branching enzyme 1 | Mycket ofta (80–99 %) | I 1 tillstånd |
| GM2Aganglioside GM2 activator | Mycket ofta (80–99 %) | I 2 tillstånd |
| HYCC1hyccin PI4KA lipid kinase complex subunit 1 | Mycket ofta (80–99 %) | I 2 tillstånd |
| MAPTmicrotubule associated protein tau | Mycket ofta (80–99 %) | I 3 tillstånd |
| NAGAalpha-N-acetylgalactosaminidase | Mycket ofta (80–99 %) | I 1 tillstånd |
| PANK2pantothenate kinase 2 | Mycket ofta (80–99 %) | I 2 tillstånd |
| PEX7peroxisomal biogenesis factor 7 | Mycket ofta (80–99 %) | I 1 tillstånd |
| PHYHphytanoyl-CoA 2-hydroxylase | Mycket ofta (80–99 %) | I 1 tillstånd |
| PLP1proteolipid protein 1 | Mycket ofta (80–99 %) | I 2 tillstånd |
| SOX10SRY-box transcription factor 10 | Mycket ofta (80–99 %) | I 1 tillstånd |
| SPG21SPG21 abhydrolase domain containing, maspardin | Mycket ofta (80–99 %) | I 1 tillstånd |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Mycket ofta (80–99 %) | I 1 tillstånd |
| TBC1D24TBC1 domain family member 24 | Mycket ofta (80–99 %) | I 1 tillstånd |
Visa 173 gener till
| Gen | Hur ofta den förekommer | Tillstånd |
|---|---|---|
| THG1LtRNA-histidine guanylyltransferase 1 like | Mycket ofta (80–99 %) | I 1 tillstånd |
| TTPAalpha tocopherol transfer protein | Mycket ofta (80–99 %) | I 1 tillstånd |
| UBTFupstream binding transcription factor | Mycket ofta (80–99 %) | I 2 tillstånd |
| VPS13Dvacuolar protein sorting 13 homolog D | Mycket ofta (80–99 %) | I 2 tillstånd |
| VPS41VPS41 subunit of HOPS complex | Mycket ofta (80–99 %) | I 1 tillstånd |
| ACADSacyl-CoA dehydrogenase short chain | Ofta (30–79 %) | I 1 tillstånd |
| ADD3adducin 3 | Ofta (30–79 %) | I 1 tillstånd |
| ADGRG1adhesion G protein-coupled receptor G1 | Ofta (30–79 %) | I 1 tillstånd |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Ofta (30–79 %) | I 1 tillstånd |
| ARXaristaless related homeobox | Ofta (30–79 %) | I 1 tillstånd |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Ofta (30–79 %) | I 2 tillstånd |
| C19orf12chromosome 19 open reading frame 12 | Ofta (30–79 %) | I 1 tillstånd |
| CLPBClpB family mitochondrial disaggregase | Ofta (30–79 %) | I 1 tillstånd |
| COA8cytochrome c oxidase assembly factor 8 | Ofta (30–79 %) | I 1 tillstånd |
| COQ2coenzyme Q2, polyprenyltransferase | Ofta (30–79 %) | I 2 tillstånd |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Ofta (30–79 %) | I 2 tillstånd |
| DMXL2Dmx like 2 | Ofta (30–79 %) | I 1 tillstånd |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Ofta (30–79 %) | I 2 tillstånd |
| ETHE1ETHE1 persulfide dioxygenase | Ofta (30–79 %) | I 1 tillstånd |
| FKRPfukutin related protein | Ofta (30–79 %) | I 1 tillstånd |
| GBA2glucosylceramidase beta 2 | Ofta (30–79 %) | I 2 tillstånd |
| GFAPglial fibrillary acidic protein | Ofta (30–79 %) | I 1 tillstånd |
| GMPPBGDP-mannose pyrophosphorylase B | Ofta (30–79 %) | I 1 tillstånd |
| HEXBhexosaminidase subunit beta | Ofta (30–79 %) | I 1 tillstånd |
| HSPD1heat shock protein family D (Hsp60) member 1 | Ofta (30–79 %) | I 1 tillstånd |
| IDUAalpha-L-iduronidase | Ofta (30–79 %) | I 2 tillstånd |
| LIG3DNA ligase 3 | Ofta (30–79 %) | I 1 tillstånd |
| LMNB1lamin B1 | Ofta (30–79 %) | I 1 tillstånd |
| MDH2malate dehydrogenase 2 | Ofta (30–79 %) | I 1 tillstånd |
| MTFMTmitochondrial methionyl-tRNA formyltransferase | Ofta (30–79 %) | I 1 tillstånd |
| MTRFRmitochondrial translation release factor in rescue | Ofta (30–79 %) | I 1 tillstånd |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Ofta (30–79 %) | I 3 tillstånd |
| PEX10peroxisomal biogenesis factor 10 | Ofta (30–79 %) | I 1 tillstånd |
| PLA2G6phospholipase A2 group VI | Ofta (30–79 %) | I 2 tillstånd |
| PODXLpodocalyxin like | Ofta (30–79 %) | I 1 tillstånd |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Ofta (30–79 %) | I 1 tillstånd |
| POMKprotein O-mannose kinase | Ofta (30–79 %) | I 1 tillstånd |
| POMT1protein O-mannosyltransferase 1 | Ofta (30–79 %) | I 1 tillstånd |
| POMT2protein O-mannosyltransferase 2 | Ofta (30–79 %) | I 1 tillstånd |
| PRKRAprotein activator of interferon induced protein kinase EIF2AK2 | Ofta (30–79 %) | I 2 tillstånd |
| PRNPprion protein (Kanno blood group) | Ofta (30–79 %) | I 2 tillstånd |
| SACSsacsin molecular chaperone | Ofta (30–79 %) | I 1 tillstånd |
| SETXsenataxin | Ofta (30–79 %) | I 3 tillstånd |
| SLC16A2solute carrier family 16 member 2 | Ofta (30–79 %) | I 1 tillstånd |
| SLC2A1solute carrier family 2 member 1 | Ofta (30–79 %) | I 4 tillstånd |
| SLC6A3solute carrier family 6 member 3 | Ofta (30–79 %) | I 2 tillstånd |
| SNORD118small nucleolar RNA, C/D box 118 | Ofta (30–79 %) | I 2 tillstånd |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Ofta (30–79 %) | I 1 tillstånd |
| SYNJ1synaptojanin 1 | Ofta (30–79 %) | I 1 tillstånd |
| TACO1translational activator of cytochrome c oxidase I | Ofta (30–79 %) | I 1 tillstånd |
| TAF2TATA-box binding protein associated factor 2 | Ofta (30–79 %) | I 2 tillstånd |
| TBPTATA-box binding protein | Ofta (30–79 %) | I 1 tillstånd |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Ofta (30–79 %) | I 1 tillstånd |
| TTRtransthyretin | Ofta (30–79 %) | I 1 tillstånd |
| VAPBVAMP associated protein B and C | Ofta (30–79 %) | I 1 tillstånd |
| VPS13Cvacuolar protein sorting 13 homolog C | Ofta (30–79 %) | I 1 tillstånd |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Ofta (30–79 %) | I 1 tillstånd |
| AARS1alanyl-tRNA synthetase 1 | Ibland (5–29 %) | I 1 tillstånd |
| ADARadenosine deaminase RNA specific | Ibland (5–29 %) | I 1 tillstånd |
| ATMATM serine/threonine kinase | Ibland (5–29 %) | I 1 tillstånd |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Ibland (5–29 %) | I 1 tillstånd |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Ibland (5–29 %) | I 1 tillstånd |
| BMPR1Abone morphogenetic protein receptor type 1A | Ibland (5–29 %) | I 1 tillstånd |
| BRCA2BRCA2 DNA repair associated | Ibland (5–29 %) | I 1 tillstånd |
| C4Acomplement C4A (Chido/Rodgers blood group) | Ibland (5–29 %) | I 1 tillstånd |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Ibland (5–29 %) | I 1 tillstånd |
| CARS1cysteinyl-tRNA synthetase 1 | Ibland (5–29 %) | I 2 tillstånd |
| CCR1C-C motif chemokine receptor 1 | Ibland (5–29 %) | I 1 tillstånd |
| CD4CD4 molecule | Ibland (5–29 %) | I 1 tillstånd |
| CHEK2checkpoint kinase 2 | Ibland (5–29 %) | I 1 tillstånd |
| CMPK2cytidine/uridine monophosphate kinase 2 | Ibland (5–29 %) | I 1 tillstånd |
| COQ8Acoenzyme Q8A | Ibland (5–29 %) | I 2 tillstånd |
| CTDP1CTD phosphatase 1 | Ibland (5–29 %) | I 1 tillstånd |
| DBR1debranching RNA lariats 1 | Ibland (5–29 %) | I 1 tillstånd |
| DPYSdihydropyrimidinase | Ibland (5–29 %) | I 1 tillstånd |
| EPCAMepithelial cell adhesion molecule | Ibland (5–29 %) | I 1 tillstånd |
| EPRS1glutamyl-prolyl-tRNA synthetase 1 | Ibland (5–29 %) | I 1 tillstånd |
| ERAP1endoplasmic reticulum aminopeptidase 1 | Ibland (5–29 %) | I 1 tillstånd |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Ibland (5–29 %) | I 1 tillstånd |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Ibland (5–29 %) | I 1 tillstånd |
| FASFas cell surface death receptor | Ibland (5–29 %) | I 1 tillstånd |
| FUCA1alpha-L-fucosidase 1 | Ibland (5–29 %) | I 1 tillstånd |
| GTF2E2general transcription factor IIE subunit 2 | Ibland (5–29 %) | I 1 tillstånd |
| GTF2H5general transcription factor IIH subunit 5 | Ibland (5–29 %) | I 1 tillstånd |
| HLA-Bmajor histocompatibility complex, class I, B | Ibland (5–29 %) | I 1 tillstånd |
| IFIH1interferon induced with helicase C domain 1 | Ibland (5–29 %) | I 1 tillstånd |
| IFNGR1interferon gamma receptor 1 | Ibland (5–29 %) | I 1 tillstånd |
| IL10interleukin 10 | Ibland (5–29 %) | I 1 tillstånd |
| IL12Ainterleukin 12A | Ibland (5–29 %) | I 1 tillstånd |
| IL12A-AS1IL12A antisense RNA 1 | Ibland (5–29 %) | I 1 tillstånd |
| IL23Rinterleukin 23 receptor | Ibland (5–29 %) | I 1 tillstånd |
| IRF4interferon regulatory factor 4 | Ibland (5–29 %) | I 1 tillstånd |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Ibland (5–29 %) | I 1 tillstånd |
| JAM2junctional adhesion molecule 2 | Ibland (5–29 %) | I 2 tillstånd |
| KIF1Ckinesin family member 1C | Ibland (5–29 %) | I 1 tillstånd |
| KLRC4killer cell lectin like receptor C4 | Ibland (5–29 %) | I 1 tillstånd |
| KMT2Blysine methyltransferase 2B | Ibland (5–29 %) | I 1 tillstånd |
| KRASKRas proto-oncogene, GTPase | Ibland (5–29 %) | I 1 tillstånd |
| LSM11LSM11, U7 small nuclear RNA associated | Ibland (5–29 %) | I 1 tillstånd |
| MEFVMEFV innate immunity regulator, pyrin | Ibland (5–29 %) | I 1 tillstånd |
| MLH1mutL homolog 1 | Ibland (5–29 %) | I 1 tillstånd |
| MORC2MORC family CW-type zinc finger 2 | Ibland (5–29 %) | I 1 tillstånd |
| MPLKIPM-phase specific PLK1 interacting protein | Ibland (5–29 %) | I 1 tillstånd |
| MSH2mutS homolog 2 | Ibland (5–29 %) | I 1 tillstånd |
| MSH6mutS homolog 6 | Ibland (5–29 %) | I 1 tillstånd |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Ibland (5–29 %) | I 1 tillstånd |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Ibland (5–29 %) | I 1 tillstånd |
| MUTYHmutY DNA glycosylase | Ibland (5–29 %) | I 1 tillstånd |
| MYORGmyogenesis regulating glycosidase | Ibland (5–29 %) | I 3 tillstånd |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Ibland (5–29 %) | I 1 tillstånd |
| NPATnuclear protein, coactivator of histone transcription | Ibland (5–29 %) | I 1 tillstånd |
| PDGFBplatelet derived growth factor subunit B | Ibland (5–29 %) | I 2 tillstånd |
| PDGFRBplatelet derived growth factor receptor beta | Ibland (5–29 %) | I 2 tillstånd |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Ibland (5–29 %) | I 1 tillstånd |
| PIK3R5phosphoinositide-3-kinase regulatory subunit 5 | Ibland (5–29 %) | I 1 tillstånd |
| PMS1PMS1 homolog 1, mismatch repair system component | Ibland (5–29 %) | I 1 tillstånd |
| PMS2PMS1 homolog 2, mismatch repair system component | Ibland (5–29 %) | I 1 tillstånd |
| PNKPpolynucleotide kinase 3'-phosphatase | Ibland (5–29 %) | I 1 tillstånd |
| POLD1DNA polymerase delta 1, catalytic subunit | Ibland (5–29 %) | I 1 tillstånd |
| POLEDNA polymerase epsilon, catalytic subunit | Ibland (5–29 %) | I 1 tillstånd |
| PPP2R2Bprotein phosphatase 2 regulatory subunit Bbeta | Ibland (5–29 %) | I 1 tillstånd |
| RHOBTB2Rho related BTB domain containing 2 | Ibland (5–29 %) | I 1 tillstånd |
| RNASEH1ribonuclease H1 | Ibland (5–29 %) | I 2 tillstånd |
| RNASEH2Aribonuclease H2 subunit A | Ibland (5–29 %) | I 1 tillstånd |
| RNASEH2Bribonuclease H2 subunit B | Ibland (5–29 %) | I 1 tillstånd |
| RNASEH2Cribonuclease H2 subunit C | Ibland (5–29 %) | I 1 tillstånd |
| RNF113Aring finger protein 113A | Ibland (5–29 %) | I 1 tillstånd |
| RNU7-1RNA, U7 small nuclear 1 | Ibland (5–29 %) | I 1 tillstånd |
| RORARAR related orphan receptor A | Ibland (5–29 %) | I 1 tillstånd |
| RPS20ribosomal protein S20 | Ibland (5–29 %) | I 1 tillstånd |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Ibland (5–29 %) | I 1 tillstånd |
| RRP12ribosomal RNA processing 12 homolog | Ibland (5–29 %) | I 1 tillstånd |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Ibland (5–29 %) | I 1 tillstånd |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Ibland (5–29 %) | I 1 tillstånd |
| SEMA4Asemaphorin 4A | Ibland (5–29 %) | I 1 tillstånd |
| SLC1A3solute carrier family 1 member 3 | Ibland (5–29 %) | I 1 tillstånd |
| SLC20A2solute carrier family 20 member 2 | Ibland (5–29 %) | I 2 tillstånd |
| SQSTM1sequestosome 1 | Ibland (5–29 %) | I 1 tillstånd |
| STAT4signal transducer and activator of transcription 4 | Ibland (5–29 %) | I 1 tillstånd |
| TARS1threonyl-tRNA synthetase 1 | Ibland (5–29 %) | I 1 tillstånd |
| TGFBR2transforming growth factor beta receptor 2 | Ibland (5–29 %) | I 1 tillstånd |
| THAP11THAP domain containing 11 | Ibland (5–29 %) | I 1 tillstånd |
| TLR4toll like receptor 4 | Ibland (5–29 %) | I 1 tillstånd |
| TMEM106Btransmembrane protein 106B | Ibland (5–29 %) | I 1 tillstånd |
| TREX1three prime repair exonuclease 1 | Ibland (5–29 %) | I 1 tillstånd |
| UBAC2UBA domain containing 2 | Ibland (5–29 %) | I 1 tillstånd |
| XPR1xenotropic and polytropic retrovirus receptor 1 | Ibland (5–29 %) | I 2 tillstånd |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Sällan (1–4%) | I 1 tillstånd |
| CAMTA1calmodulin binding transcription activator 1 | Sällan (1–4%) | I 1 tillstånd |
| CHD2chromodomain helicase DNA binding protein 2 | Sällan (1–4%) | I 1 tillstånd |
| NEXMIFneurite extension and migration factor | Sällan (1–4%) | I 1 tillstånd |
| POU4F1POU class 4 homeobox 1 | Sällan (1–4%) | I 1 tillstånd |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Sällan (1–4%) | I 2 tillstånd |
| SLC6A1solute carrier family 6 member 1 | Sällan (1–4%) | I 1 tillstånd |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Sällan (1–4%) | I 1 tillstånd |
| TTBK2tau tubulin kinase 2 | Sällan (1–4%) | I 1 tillstånd |
| ATXN10ataxin 10 | Inte registrerat | I 1 tillstånd |
| ATXN8ataxin 8 | Inte registrerat | I 1 tillstånd |
| ATXN8OSATXN8 opposite strand lncRNA | Inte registrerat | I 1 tillstånd |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Inte registrerat | I 1 tillstånd |
| CTC1CST telomere replication complex component 1 | Inte registrerat | I 1 tillstånd |
| ELOVL4ELOVL fatty acid elongase 4 | Inte registrerat | I 1 tillstånd |
| GANgigaxonin | Inte registrerat | I 1 tillstånd |
| GLRX5glutaredoxin 5 | Inte registrerat | I 1 tillstånd |
| GRM1glutamate metabotropic receptor 1 | Inte registrerat | I 1 tillstånd |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Inte registrerat | I 1 tillstånd |
| L2HGDHL-2-hydroxyglutarate dehydrogenase | Inte registrerat | I 1 tillstånd |
| MAN2B1mannosidase alpha class 2B member 1 | Inte registrerat | I 1 tillstånd |
| NALCNsodium leak channel, non-selective | Inte registrerat | I 1 tillstånd |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Inte registrerat | I 1 tillstånd |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Inte registrerat | I 1 tillstånd |
| SLC12A5solute carrier family 12 member 5 | Inte registrerat | I 1 tillstånd |
| VWA3Bvon Willebrand factor A domain containing 3B | Inte registrerat | I 1 tillstånd |
Hur ofta det förekommer hos personer med ett av genens tillstånd, den vanligaste frekvensen bland dem, enligt Human Phenotype Ontology. Dessa sidor beskriver egenskaper och forskningen bakom dem. De är inte en diagnos, och det är läkare eller genetisk rådgivare du bör fråga om symtom.
Mer specifika egenskaper
Bredare egenskaper
Varifrån informationen kommer
- Human Phenotype Ontology, version 2026-09-01: egenskapen, dess namn, definition och de gener som är kopplade till den. Läs mer på hpo.jax.org.
- Dataversion 2026.10.19-9814e911.
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