AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Požymis
Diminished deep tendon reflex
A reduction (hyporeflexia) or complete absence (areflexia) of the involuntary muscle contraction normally elicited by a reflex stimulus, such as tapping a deep tendon.
Santrauka
- Taip pat vadinama
- Absent or decreased deep tendon reflexes, Decreased deep tendon reflexes, Decreased tendon reflexes, Decreased to absent deep tendon reflexes, Decreased/absent deep tendon reflexes, Depressed tendon reflexes, Diminished deep tendon reflexes, Diminished or absent deep tendon reflexes, Diminished or absent tendon reflexes, Hypoactive to absent deep tendon reflexes, Impaired tendon reflexes, Reduced tendon reflexes, Reduced/absent deep tendon reflexes, Weak or absent deep tendon reflexes
- Kūno sistema
- Abnormality of the nervous system
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Ši puslapis kaip duomenys
Norėdami perskaityti jį kaip JSON, pridėkite .json prie puslapio adreso arba nurodykite application/json.
library(jsonlite)
url <- "https://dantelabs.com/traits/diminished-deep-tendon-reflex.json"
page <- fromJSON(url)
page$trait$nameDiminished deep tendon reflexHP:0001315
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Vienu tyrimu sužinokite genus, susijusius su Diminished deep tendon reflex, ir kitą jūsų genomo dalį.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites
Įsigyti savo Genome Test82 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.
- Zellweger Spectrum & Peroxisome Biogenesis DisordersReads 13 of these genesPEX1PEX10PEX11BPEX12PEX13PEX14About this report →
- Epilepsy (Full Panel)Reads 48 of these genesAARS1ACTL6BAP3B2ATP1A2ATP1A3ATP6V1AAbout this report →
- Rare Hereditary Peripheral NeuropathiesReads 27 of these genesMARS1SETXHSPB1LMNAMORC2PEX1About this report →
- Familial Hemiplegic MigraineReads 3 of these genesATP1A2CACNA1ASCN1AAbout this report →
Show 78 more reports
- DNA Repair DiseaseReads 11 of these genesSETXERCC1ERCC2ERCC5ERCC6MRE11About this report →
- Other Inherited LeukodystrophiesReads 15 of these genesPEX1PEX10PEX11BPEX12PEX13PEX14About this report →
- Congenital Muscular DystrophiesReads 9 of these genesDPM3ITGA7SELENONFKRPGMPPBLAMA2About this report →
- Inherited Neurodegenerative DisordersReads 31 of these genesABCB7SETXTUBA4APEX1PEX10PEX11BAbout this report →
- GPI Anchor Biosynthesis DefectsReads 7 of these genesPGAP2PGAP3PIGLPIGOPIGVPIGWAbout this report →
- Congenital Disorders of GlycosylationReads 14 of these genesDPM3DHDDSFKRPGMPPBNUS1PGAP2About this report →
- Congenital MyopathiesReads 6 of these genesACTA1MAP3K20MYPNSELENONTPM2TPM3About this report →
- Familial Periodic ParalysisReads 2 of these genesSCN4ACACNA1SAbout this report →
- Charcot-Marie-Tooth DiseaseReads 10 of these genesMARS1SETXHSPB1LMNAMORC2GDAP1About this report →
- Limb-Girdle Muscular DystrophyReads 6 of these genesHMGCRLMNADYSFFKRPGMPPBLAMA2About this report →
- Ataxia-TelangiectasiaReads 1 of these genesATMAbout this report →
- ATP1A2-Related Fetal Akinesia with PolymicrogyriaReads 1 of these genesATP1A2About this report →
- Au-Kline SyndromeReads 1 of these genesHNRNPKAbout this report →
- Bailey-Bloch Congenital MyopathyReads 1 of these genesSTAC3About this report →
- Dravet SyndromeReads 1 of these genesSCN1AAbout this report →
- Friedreich AtaxiaReads 1 of these genesFXNAbout this report →
- Genetic Prion Disease (incl. Fatal Familial Insomnia)Reads 1 of these genesPRNPAbout this report →
- LPIN1-Related Recurrent RhabdomyolysisReads 1 of these genesLPIN1About this report →
- Mulibrey NanismReads 1 of these genesTRIM37About this report →
- SCN4A-Related Congenital MyopathyReads 1 of these genesSCN4AAbout this report →
- Distal MyopathiesReads 4 of these genesADSS1LRP12DYSFVCPAbout this report →
- Hypertrophic CardiomyopathyReads 6 of these genesDHHHRASKRASNRASMYL2MYPNAbout this report →
- Microphthalmia, Anophthalmia & ColobomaReads 4 of these genesRAB3GAP2ERCC1ERCC2ERCC5About this report →
- Hereditary HypolipoproteinemiasReads 2 of these genesAPOBSAR1BAbout this report →
- Dilated CardiomyopathyReads 5 of these genesEMDFHL1LMNASYNE1MYPNAbout this report →
- Malignant Hyperthermia SusceptibilityReads 1 of these genesCACNA1SAbout this report →
- Sandhoff Disease and GM2 Activator DeficiencyReads 1 of these genesHEXBAbout this report →
- Complex Neurodevelopmental Disorder With Motor FeaturesReads 2 of these genesCACNA1ACACNA1BAbout this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 5 of these genesSETXPEX6SYNE1TWNKFXNAbout this report →
- Noonan SyndromeReads 3 of these genesHRASKRASNRASAbout this report →
- BH4 Deficiency & Monoamine Neurotransmitter DisordersReads 2 of these genesDBHDDCAbout this report →
- LipodystrophyReads 2 of these genesLMNAMFN2About this report →
- Immuno-Osseous DysplasiasReads 1 of these genesRMRPAbout this report →
- Neuroacanthocytosis and Huntington Disease PhenocopiesReads 1 of these genesVPS13AAbout this report →
- Amyotrophic Lateral Sclerosis (ALS)Reads 3 of these genesSETXTUBA4AVCPAbout this report →
- Hereditary Optic NeuropathyReads 2 of these genesATP1A3OPA3About this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 3 of these genesSCN4ATAF1ATP1A3About this report →
- Fatty Acid Oxidation & Carnitine Cycle DisordersReads 2 of these genesCPT1AACADMAbout this report →
- Familial HypercholesterolemiaReads 1 of these genesAPOBAbout this report →
- Hereditary Episodic AtaxiasReads 1 of these genesCACNA1AAbout this report →
- Autoimmune DiseaseReads 2 of these genesKRASDNASE1L3About this report →
- Female InfertilityReads 3 of these genesTUBA4ATWNKATMAbout this report →
- Surfactant Metabolism DysfunctionReads 1 of these genesMARS1About this report →
- Systemic Lupus ErythematosusReads 1 of these genesDNASE1L3About this report →
- Intellectual DisabilityReads 6 of these genesTAF1CLTCCNKSR2NUS1PIGLSYNGAP1About this report →
- Congenital Myasthenic SyndromeReads 2 of these genesSCN4AGMPPBAbout this report →
- Autoimmune Lymphoproliferative Syndrome (ALPS)Reads 1 of these genesKRASAbout this report →
- Basal Ganglia CalcificationReads 1 of these genesMYORGAbout this report →
- Monogenic Obesity (Leptin-Melanocortin Pathway)Reads 1 of these genesSIM1About this report →
- Hereditary Sideroblastic AnaemiasReads 1 of these genesABCB7About this report →
- Progressive Cardiac Conduction Disease & Sick Sinus SyndromeReads 1 of these genesLMNAAbout this report →
- Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)Reads 2 of these genesATP1A3CACNA1AAbout this report →
- Anterior Segment Dysgenesis, Axenfeld-Rieger Syndrome & AniridiaReads 1 of these genesPITX3About this report →
- Breast and Ovarian Cancer Genes Beyond BRCA1/2Reads 1 of these genesATMAbout this report →
- Imprinting Disorders: Prader-Willi, Silver-Russell and Beckwith-WiedemannReads 1 of these genesMAGEL2About this report →
- Pyruvate Dehydrogenase & Pyruvate Carboxylase DeficiencyReads 1 of these genesPDHBAbout this report →
- Arrhythmogenic CardiomyopathyReads 1 of these genesTMEM43About this report →
- Type I InterferonopathiesReads 1 of these genesPSMB8About this report →
- Hypogonadotropic HypogonadismReads 2 of these genesRAB3GAP2MAGEL2About this report →
- Frontotemporal DementiaReads 1 of these genesVCPAbout this report →
- HyperlipidemiaReads 1 of these genesAPOBAbout this report →
- Glycogen Storage DiseaseReads 1 of these genesGBE1About this report →
- Parkinson DiseaseReads 1 of these genesSYNJ1About this report →
- Cutis LaxaReads 1 of these genesATP6V1AAbout this report →
- Fanconi AnemiaReads 1 of these genesERCC4About this report →
- 46,XY Differences of Sex Development and Gonadal DysgenesisReads 1 of these genesDHHAbout this report →
- Ehlers-Danlos SyndromeReads 1 of these genesPLOD1About this report →
- Hereditary Congenital & Juvenile CataractReads 1 of these genesPITX3About this report →
- Lissencephaly Spectrum DisordersReads 1 of these genesRAB3GAP2About this report →
- Syndromic Complex Neurodevelopmental DisorderReads 1 of these genesTBCKAbout this report →
- Other Inborn Errors of ImmunityReads 3 of these genesKRASRMRPATMAbout this report →
- Diabetes MellitusReads 1 of these genesMT-TL1About this report →
- Osteogenesis ImperfectaReads 1 of these genesFKBP10About this report →
- Rare Monogenic Autoinflammatory DiseasesReads 1 of these genesPSMB8About this report →
- Primary Mitochondrial DiseaseReads 2 of these genesTWNKRRM2BAbout this report →
- Lysosomal Storage DiseaseReads 1 of these genesHEXBAbout this report →
- Leigh SyndromeReads 1 of these genesPDHBAbout this report →
- Retinitis PigmentosaReads 1 of these genesDHDDSAbout this report →
Vienu tyrimu sužinokite genus, susijusius su Diminished deep tendon reflex, ir kitą jūsų genomo dalį.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites
Įsigyti savo Genome Test174 genų susiję su Diminished deep tendon reflex
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Diminished deep tendon reflex. 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 |
|---|---|---|
| ABCB7ATP binding cassette subfamily B member 7 | Visada | 1 ligoje |
| HMGCR3-hydroxy-3-methylglutaryl-CoA reductase | Visada | 1 ligoje |
| MARS1methionyl-tRNA synthetase 1 | Visada | 1 ligoje |
| MYORGmyogenesis regulating glycosidase | Visada | 1 ligoje |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Visada | 1 ligoje |
| SETXsenataxin | Visada | 1 ligoje |
| TUBA4Atubulin alpha 4a | Visada | 1 ligoje |
| ADCY6adenylate cyclase 6 | Labai dažnai (80–99%) | 1 ligoje |
| CNTNAP1contactin associated protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| CPT1Acarnitine palmitoyltransferase 1A | Labai dažnai (80–99%) | 1 ligoje |
| DHHdesert hedgehog signaling molecule | Labai dažnai (80–99%) | 1 ligoje |
| EMDemerin | Labai dažnai (80–99%) | 1 ligoje |
| FHL1four and a half LIM domains 1 | Labai dažnai (80–99%) | 1 ligoje |
| HRASHRas proto-oncogene, GTPase | Labai dažnai (80–99%) | 1 ligoje |
| HSPB1heat shock protein family B (small) member 1 | Labai dažnai (80–99%) | 1 ligoje |
| KRASKRas proto-oncogene, GTPase | Labai dažnai (80–99%) | 1 ligoje |
| LGI4leucine rich repeat LGI family member 4 | Labai dažnai (80–99%) | 1 ligoje |
| LMNAlamin A/C | Labai dažnai (80–99%) | 1 ligoje |
| MORC2MORC family CW-type zinc finger 2 | Labai dažnai (80–99%) | 1 ligoje |
| NRASNRAS proto-oncogene, GTPase | Labai dažnai (80–99%) | 1 ligoje |
| PEX1peroxisomal biogenesis factor 1 | Labai dažnai (80–99%) | 1 ligoje |
| PEX10peroxisomal biogenesis factor 10 | Labai dažnai (80–99%) | 1 ligoje |
| PEX11Bperoxisomal biogenesis factor 11 beta | Labai dažnai (80–99%) | 1 ligoje |
| PEX12peroxisomal biogenesis factor 12 | Labai dažnai (80–99%) | 1 ligoje |
| PEX13peroxisomal biogenesis factor 13 | Labai dažnai (80–99%) | 1 ligoje |
| PEX14peroxisomal biogenesis factor 14 | Labai dažnai (80–99%) | 1 ligoje |
| PEX16peroxisomal biogenesis factor 16 | Labai dažnai (80–99%) | 1 ligoje |
| PEX19peroxisomal biogenesis factor 19 | Labai dažnai (80–99%) | 1 ligoje |
| PEX2peroxisomal biogenesis factor 2 | Labai dažnai (80–99%) | 1 ligoje |
| PEX26peroxisomal biogenesis factor 26 | Labai dažnai (80–99%) | 1 ligoje |
| PEX3peroxisomal biogenesis factor 3 | Labai dažnai (80–99%) | 1 ligoje |
| PEX5peroxisomal biogenesis factor 5 | Labai dažnai (80–99%) | 1 ligoje |
| PEX6peroxisomal biogenesis factor 6 | Labai dažnai (80–99%) | 1 ligoje |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Labai dažnai (80–99%) | 2 ligose |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Labai dažnai (80–99%) | 2 ligose |
| SYNE2spectrin repeat containing nuclear envelope protein 2 | Labai dažnai (80–99%) | 1 ligoje |
| TMEM43transmembrane protein 43 | Labai dažnai (80–99%) | 1 ligoje |
| TRIM37tripartite motif containing 37 | Labai dažnai (80–99%) | 1 ligoje |
| TWNKtwinkle mtDNA helicase | Labai dažnai (80–99%) | 1 ligoje |
| ACADMacyl-CoA dehydrogenase medium chain | Dažnai (30–79%) | 1 ligoje |
Rodyti dar 134 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| ACTA1actin alpha 1, skeletal muscle | Dažnai (30–79%) | 2 ligose |
| ADSS1adenylosuccinate synthase 1 | Dažnai (30–79%) | 1 ligoje |
| CACNA1Scalcium voltage-gated channel subunit alpha1 S | Dažnai (30–79%) | 1 ligoje |
| DBHdopamine beta-hydroxylase | Dažnai (30–79%) | 1 ligoje |
| DOCK3dedicator of cytokinesis 3 | Dažnai (30–79%) | 1 ligoje |
| DPM3dolichyl-phosphate mannosyltransferase subunit 3, regulatory | Dažnai (30–79%) | 1 ligoje |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Dažnai (30–79%) | 1 ligoje |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Dažnai (30–79%) | 2 ligose |
| ERCC5ERCC excision repair 5, endonuclease | Dažnai (30–79%) | 2 ligose |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Dažnai (30–79%) | 1 ligoje |
| FUZfuzzy planar cell polarity protein | Dažnai (30–79%) | 1 ligoje |
| GDAP1ganglioside induced differentiation associated protein 1 | Dažnai (30–79%) | 1 ligoje |
| GFERgrowth factor, augmenter of liver regeneration | Dažnai (30–79%) | 1 ligoje |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Dažnai (30–79%) | 1 ligoje |
| HINT1histidine triad nucleotide binding protein 1 | Dažnai (30–79%) | 1 ligoje |
| ITGA7integrin subunit alpha 7 | Dažnai (30–79%) | 1 ligoje |
| KCNE3potassium voltage-gated channel subfamily E regulatory subunit 3 | Dažnai (30–79%) | 1 ligoje |
| LPIN1lipin 1 | Dažnai (30–79%) | 1 ligoje |
| LRP12LDL receptor related protein 12 | Dažnai (30–79%) | 1 ligoje |
| MAGEL2MAGE family member L2 | Dažnai (30–79%) | 1 ligoje |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Dažnai (30–79%) | 1 ligoje |
| MFN2mitofusin 2 | Dažnai (30–79%) | 1 ligoje |
| MRE11MRE11 double strand break repair nuclease | Dažnai (30–79%) | 2 ligose |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Dažnai (30–79%) | 1 ligoje |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Dažnai (30–79%) | 1 ligoje |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Dažnai (30–79%) | 1 ligoje |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Dažnai (30–79%) | 1 ligoje |
| MYL2myosin light chain 2 | Dažnai (30–79%) | 1 ligoje |
| MYPNmyopalladin | Dažnai (30–79%) | 1 ligoje |
| OBSCNobscurin, cytoskeletal calmodulin and titin-interacting RhoGEF | Dažnai (30–79%) | 1 ligoje |
| PRNPprion protein (Kanno blood group) | Dažnai (30–79%) | 1 ligoje |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Dažnai (30–79%) | 1 ligoje |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Dažnai (30–79%) | 1 ligoje |
| SELENONselenoprotein N | Dažnai (30–79%) | 1 ligoje |
| SIM1SIM bHLH transcription factor 1 | Dažnai (30–79%) | 1 ligoje |
| TAF1TATA-box binding protein associated factor 1 | Dažnai (30–79%) | 1 ligoje |
| TBCKTBC1 domain containing kinase | Dažnai (30–79%) | 1 ligoje |
| TPM2tropomyosin 2 | Dažnai (30–79%) | 2 ligose |
| TPM3tropomyosin 3 | Dažnai (30–79%) | 2 ligose |
| VANGL1VANGL planar cell polarity protein 1 | Dažnai (30–79%) | 1 ligoje |
| VPS13Avacuolar protein sorting 13 homolog A | Dažnai (30–79%) | 1 ligoje |
| AARS1alanyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| ACTL6Bactin like 6B | Kartais (5–29%) | 1 ligoje |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Kartais (5–29%) | 1 ligoje |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Kartais (5–29%) | 1 ligoje |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Kartais (5–29%) | 1 ligoje |
| ATP6V1AATPase H+ transporting V1 subunit A | Kartais (5–29%) | 1 ligoje |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Kartais (5–29%) | 1 ligoje |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Kartais (5–29%) | 1 ligoje |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Kartais (5–29%) | 1 ligoje |
| CDK19cyclin dependent kinase 19 | Kartais (5–29%) | 1 ligoje |
| CELF2CUGBP Elav-like family member 2 | Kartais (5–29%) | 1 ligoje |
| CLTCclathrin heavy chain | Kartais (5–29%) | 1 ligoje |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Kartais (5–29%) | 1 ligoje |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Kartais (5–29%) | 1 ligoje |
| DALRD3DALR anticodon binding domain containing 3 | Kartais (5–29%) | 1 ligoje |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Kartais (5–29%) | 1 ligoje |
| DDB2damage specific DNA binding protein 2 | Kartais (5–29%) | 1 ligoje |
| DDCdopa decarboxylase | Kartais (5–29%) | 1 ligoje |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Kartais (5–29%) | 1 ligoje |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Kartais (5–29%) | 1 ligoje |
| DNASE1L3deoxyribonuclease 1L3 | Kartais (5–29%) | 1 ligoje |
| DNM1dynamin 1 | Kartais (5–29%) | 1 ligoje |
| DYSFdysferlin | Kartais (5–29%) | 1 ligoje |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Kartais (5–29%) | 1 ligoje |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Kartais (5–29%) | 1 ligoje |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Kartais (5–29%) | 1 ligoje |
| FBXO28F-box protein 28 | Kartais (5–29%) | 1 ligoje |
| FGF12fibroblast growth factor 12 | Kartais (5–29%) | 1 ligoje |
| FKBP10FKBP prolyl isomerase 10 | Kartais (5–29%) | 1 ligoje |
| FKRPfukutin related protein | Kartais (5–29%) | 1 ligoje |
| FOXG1forkhead box G1 | Kartais (5–29%) | 1 ligoje |
| FZR1fizzy and cell division cycle 20 related 1 | Kartais (5–29%) | 1 ligoje |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Kartais (5–29%) | 1 ligoje |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Kartais (5–29%) | 1 ligoje |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Kartais (5–29%) | 1 ligoje |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Kartais (5–29%) | 1 ligoje |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Kartais (5–29%) | 1 ligoje |
| GMPPBGDP-mannose pyrophosphorylase B | Kartais (5–29%) | 1 ligoje |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Kartais (5–29%) | 1 ligoje |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Kartais (5–29%) | 1 ligoje |
| HEXBhexosaminidase subunit beta | Kartais (5–29%) | 1 ligoje |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Kartais (5–29%) | 2 ligose |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Kartais (5–29%) | 1 ligoje |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Kartais (5–29%) | 1 ligoje |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Kartais (5–29%) | 1 ligoje |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Kartais (5–29%) | 1 ligoje |
| LAMA2laminin subunit alpha 2 | Kartais (5–29%) | 1 ligoje |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Kartais (5–29%) | 1 ligoje |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Kartais (5–29%) | 1 ligoje |
| MED25mediator complex subunit 25 | Kartais (5–29%) | 1 ligoje |
| NECAP1NECAP endocytosis associated 1 | Kartais (5–29%) | 1 ligoje |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Kartais (5–29%) | 1 ligoje |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Kartais (5–29%) | 1 ligoje |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Kartais (5–29%) | 1 ligoje |
| PACS2phosphofurin acidic cluster sorting protein 2 | Kartais (5–29%) | 1 ligoje |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Kartais (5–29%) | 1 ligoje |
| PDHBpyruvate dehydrogenase E1 subunit beta | Kartais (5–29%) | 1 ligoje |
| PGAP2post-GPI attachment to proteins 2 | Kartais (5–29%) | 1 ligoje |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Kartais (5–29%) | 1 ligoje |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Kartais (5–29%) | 1 ligoje |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Kartais (5–29%) | 1 ligoje |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Kartais (5–29%) | 1 ligoje |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Kartais (5–29%) | 1 ligoje |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Kartais (5–29%) | 1 ligoje |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Kartais (5–29%) | 1 ligoje |
| POMT1protein O-mannosyltransferase 1 | Kartais (5–29%) | 1 ligoje |
| POMT2protein O-mannosyltransferase 2 | Kartais (5–29%) | 1 ligoje |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Kartais (5–29%) | 1 ligoje |
| PSMB8proteasome 20S subunit beta 8 | Kartais (5–29%) | 1 ligoje |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Kartais (5–29%) | 1 ligoje |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Kartais (5–29%) | 1 ligoje |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Kartais (5–29%) | 1 ligoje |
| SLC13A5solute carrier family 13 member 5 | Kartais (5–29%) | 1 ligoje |
| SLC1A2solute carrier family 1 member 2 | Kartais (5–29%) | 1 ligoje |
| SLC38A3solute carrier family 38 member 3 | Kartais (5–29%) | 1 ligoje |
| STAC3SH3 and cysteine rich domain 3 | Kartais (5–29%) | 1 ligoje |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Kartais (5–29%) | 1 ligoje |
| SYNJ1synaptojanin 1 | Kartais (5–29%) | 1 ligoje |
| SZT2SZT2 subunit of KICSTOR complex | Kartais (5–29%) | 1 ligoje |
| TRAK1trafficking kinesin protein 1 | Kartais (5–29%) | 1 ligoje |
| UBA5ubiquitin like modifier activating enzyme 5 | Kartais (5–29%) | 1 ligoje |
| UFSP2UFM1 specific peptidase 2 | Kartais (5–29%) | 1 ligoje |
| VCPvalosin containing protein | Kartais (5–29%) | 1 ligoje |
| XPAXPA, DNA damage recognition and repair factor | Kartais (5–29%) | 1 ligoje |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Kartais (5–29%) | 1 ligoje |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Kartais (5–29%) | 1 ligoje |
| APOBapolipoprotein B | Neužfiksuota | 1 ligoje |
| ATMATM serine/threonine kinase | Neužfiksuota | 1 ligoje |
| CNTNAP2contactin associated protein 2 | Neužfiksuota | 1 ligoje |
| FXNfrataxin | Neužfiksuota | 1 ligoje |
| GBE11,4-alpha-glucan branching enzyme 1 | Neužfiksuota | 1 ligoje |
| PITX3paired like homeodomain 3 | Neužfiksuota | 1 ligoje |
| SAR1Bsecretion associated Ras related GTPase 1B | 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.
Siauresni požymiai
Platesni požymiai
Iš kur tai žinoma
- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.19-9814e911.
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