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page$trait$nameLeggi i geni collegati a Bulbar signs e il resto del tuo genoma con un unico test.
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Ottieni il mio Genome Test40 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.
- Amyotrophic Lateral Sclerosis (ALS)Reads 12 of these genesALS2FIG4FUSSIGMAR1SPG11SPTLC1About this report →
- Congenital MyopathiesReads 8 of these genesACTA1KBTBD13KLHL41MYPNNEBRYR1About this report →
- Hereditary Episodic AtaxiasReads 3 of these genesCACNA1ASCN2ASLC1A3About this report →
- Inherited Neurodegenerative DisordersReads 28 of these genesALS2ATP13A2ATP1A3ATXN1ERLIN1FIG4About this report →
Show 36 more reports
- Metachromatic LeukodystrophyReads 2 of these genesARSAPSAPAbout this report →
- Hereditary Optic NeuropathyReads 5 of these genesATP1A3MT-ND1MT-ND4MT-ND5MT-ND6About this report →
- Rare Hereditary Peripheral NeuropathiesReads 21 of these genesFIG4PLA2G6SIGMAR1SORDSPG11SPTLC1About this report →
- Familial Hemiplegic MigraineReads 2 of these genesATP1A2CACNA1AAbout this report →
- Alexander DiseaseReads 1 of these genesGFAPAbout this report →
- Amyotrophic Lateral Sclerosis Susceptibility 24 (NEK1)Reads 1 of these genesNEK1About this report →
- ATP1A2-Related Fetal Akinesia with PolymicrogyriaReads 1 of these genesATP1A2About this report →
- Gaucher DiseaseReads 1 of these genesGBA1About this report →
- Leigh SyndromeReads 8 of these genesMT-ATP6MT-ND1MT-ND3MT-ND4MT-ND5MT-ND6About this report →
- Parkinson DiseaseReads 3 of these genesATP13A2PLA2G6GBA1About this report →
- Hereditary Manganese Transporter DisordersReads 1 of these genesSLC39A14About this report →
- Malignant Hyperthermia SusceptibilityReads 1 of these genesRYR1About this report →
- Neurodegeneration with Brain Iron Accumulation (NBIA)Reads 2 of these genesATP13A2PLA2G6About this report →
- Hereditary Spastic ParaplegiaReads 5 of these genesATP13A2ERLIN1SPG11TFGREEP1About this report →
- Spinal Muscular AtrophyReads 3 of these genesSIGMAR1REEP1CHCHD10About this report →
- Charcot-Marie-Tooth DiseaseReads 5 of these genesFIG4SIGMAR1SORDSPG11REEP1About this report →
- Lysosomal Storage DiseaseReads 4 of these genesGNEARSAPSAPGBA1About this report →
- Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)Reads 3 of these genesATP1A3ATXN1CACNA1AAbout this report →
- Distal MyopathiesReads 2 of these genesGNEMATR3About this report →
- Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)Reads 2 of these genesSPTLC1SPTLC2About this report →
- Epilepsy (Full Panel)Reads 6 of these genesATP1A3ATP1A2CACNA1ARHOBTB2SCN2ASLC2A1About this report →
- Other Inherited LeukodystrophiesReads 3 of these genesARSAPSAPGFAPAbout this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 2 of these genesATP1A3SLC2A1About this report →
- Complex Neurodevelopmental Disorder With Motor FeaturesReads 1 of these genesCACNA1AAbout this report →
- Hereditary AmyloidosisReads 1 of these genesGSNAbout this report →
- Dilated CardiomyopathyReads 2 of these genesSYNE1MYPNAbout this report →
- Frontotemporal DementiaReads 1 of these genesCHCHD10About this report →
- Myofibrillar MyopathiesReads 1 of these genesRYR1About this report →
- Neuronal Ceroid LipofuscinosisReads 1 of these genesATP13A2About this report →
- Hereditary Corneal DystrophiesReads 1 of these genesGSNAbout this report →
- Diabetes MellitusReads 1 of these genesMT-TL1About this report →
- Inherited ThrombocytopeniasReads 1 of these genesGNEAbout this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 1 of these genesSYNE1About this report →
- Hypertrophic CardiomyopathyReads 1 of these genesMYPNAbout this report →
- Congenital Disorders of GlycosylationReads 1 of these genesGNEAbout this report →
- Intellectual DisabilityReads 1 of these genesSCN2AAbout this report →
Leggi i geni collegati a Bulbar signs e il resto del tuo genoma con un unico test.
A partire da 449 $Spedizione gratuita · Risultati in 6–8 settimane
Ottieni il mio Genome Test58 geni collegati a Bulbar signs
Alterazioni in questi geni causano malattie rare in cui si osserva Bulbar signs. La maggior parte delle persone con questo tratto non presenta nessuna di tali condizioni, e un gene di questo elenco non dice nulla sul genoma di nessuno in particolare.
| Gene | Frequenza di osservazione | Condizioni |
|---|---|---|
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Molto spesso (80–99%) | In 1 condizione |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Spesso (30–79%) | In 1 condizione |
| ATP13A2ATPase cation transporting 13A2 | Spesso (30–79%) | In 1 condizione |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Spesso (30–79%) | In 2 condizioni |
| ATXN1ataxin 1 | Spesso (30–79%) | In 1 condizione |
| ERLIN1ER lipid raft associated 1 | Spesso (30–79%) | In 1 condizione |
| FIG4FIG4 phosphoinositide 5-phosphatase | Spesso (30–79%) | In 1 condizione |
| FUSFUS RNA binding protein | Spesso (30–79%) | In 1 condizione |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Spesso (30–79%) | In 1 condizione |
| NEK1NIMA related kinase 1 | Spesso (30–79%) | In 1 condizione |
| PLA2G6phospholipase A2 group VI | Spesso (30–79%) | In 1 condizione |
| PLAAphospholipase A2 activating protein | Spesso (30–79%) | In 2 condizioni |
| SIGMAR1sigma receptor chaperone 1 | Spesso (30–79%) | In 1 condizione |
| SLC39A14solute carrier family 39 member 14 | Spesso (30–79%) | In 1 condizione |
| SORDsorbitol dehydrogenase | Spesso (30–79%) | In 1 condizione |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Spesso (30–79%) | In 2 condizioni |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Spesso (30–79%) | In 1 condizione |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Spesso (30–79%) | In 1 condizione |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Spesso (30–79%) | In 1 condizione |
| TARDBPTAR DNA binding protein | Spesso (30–79%) | In 1 condizione |
| TFGtrafficking from ER to golgi regulator | Spesso (30–79%) | In 1 condizione |
| TRMT2BtRNA methyltransferase 2B | Spesso (30–79%) | In 1 condizione |
| UBQLN2ubiquilin 2 | Spesso (30–79%) | In 1 condizione |
| VAPBVAMP associated protein B and C | Spesso (30–79%) | In 2 condizioni |
| ACTA1actin alpha 1, skeletal muscle | A volte (5–29%) | In 1 condizione |
| ARSAarylsulfatase A | A volte (5–29%) | In 1 condizione |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | A volte (5–29%) | In 1 condizione |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | A volte (5–29%) | In 1 condizione |
| KBTBD13kelch repeat and BTB domain containing 13 | A volte (5–29%) | In 1 condizione |
| KLHL41kelch like family member 41 | A volte (5–29%) | In 1 condizione |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | A volte (5–29%) | In 1 condizione |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | A volte (5–29%) | In 1 condizione |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | A volte (5–29%) | In 1 condizione |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | A volte (5–29%) | In 1 condizione |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | A volte (5–29%) | In 1 condizione |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | A volte (5–29%) | In 1 condizione |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | A volte (5–29%) | In 1 condizione |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | A volte (5–29%) | In 1 condizione |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | A volte (5–29%) | In 1 condizione |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | A volte (5–29%) | In 1 condizione |
Mostra altri 18 geni
| Gene | Frequenza di osservazione | Condizioni |
|---|---|---|
| MT-TVmitochondrially encoded tRNA-Val (GUN) | A volte (5–29%) | In 1 condizione |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | A volte (5–29%) | In 1 condizione |
| MYPNmyopalladin | A volte (5–29%) | In 1 condizione |
| NEBnebulin | A volte (5–29%) | In 1 condizione |
| PSAPprosaposin | A volte (5–29%) | In 1 condizione |
| REEP1receptor accessory protein 1 | A volte (5–29%) | In 1 condizione |
| RHOBTB2Rho related BTB domain containing 2 | A volte (5–29%) | In 1 condizione |
| RYR1ryanodine receptor 1 | A volte (5–29%) | In 1 condizione |
| SCN2Asodium voltage-gated channel alpha subunit 2 | A volte (5–29%) | In 1 condizione |
| SLC1A3solute carrier family 1 member 3 | A volte (5–29%) | In 1 condizione |
| SLC2A1solute carrier family 2 member 1 | A volte (5–29%) | In 1 condizione |
| TPM2tropomyosin 2 | A volte (5–29%) | In 1 condizione |
| TPM3tropomyosin 3 | A volte (5–29%) | In 1 condizione |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Raramente (1–4%) | In 1 condizione |
| GSNgelsolin | Raramente (1–4%) | In 1 condizione |
| GBA1glucosylceramidase beta 1 | Non registrato | In 1 condizione |
| GFAPglial fibrillary acidic protein | Non registrato | In 1 condizione |
| MATR3matrin 3 | Non registrato | In 1 condizione |
Con quale frequenza questo tratto si presenta tra le persone con una delle condizioni legate al gene, nella misura più alta riscontrata tra queste, secondo quanto registrato dall'Human Phenotype Ontology. Queste pagine descrivono tratti e la ricerca che li riguarda; non costituiscono una diagnosi, e per i sintomi il medico o il consulente genetico è la persona a cui rivolgersi.
Tratti più generali
Fonte dei dati
- Human Phenotype Ontology, versione 2026-09-01: il tratto, i suoi nomi, la sua definizione e i geni a esso collegati. Per saperne di più visiti hpo.jax.org.
- Versione dei dati 2026.10.21-777c9289.
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