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Cecha
Lower limb spasticity
Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis.
Podsumowanie
- Znana także jako
- Lower extremities spasticity, Lower extremity spasticity, Spastic lower extremities, Spastic lower extremity, Spastic lower limb, Spastic lower limbs, Spasticity in lower extremities, Spasticity in lower extremity, Spasticity in lower limb, Spasticity in lower limbs, Spasticity of lower extremities, Spasticity of lower extremity, Spasticity of lower limb, Spasticity of lower limbs
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Ta strona jako dane
Aby odczytać ją jako JSON, dodaj .json na końcu adresu strony lub zażądaj application/json.
library(jsonlite)
url <- "https://dantelabs.com/traits/lower-limb-spasticity.json"
page <- fromJSON(url)
page$trait$nameLower limb spasticityHP:0002061
AtlasKomu pomagamyNasza naukaProduktyWyniki
Zaloguj sięZapytajZsekwencjonuj swój genom↗
Odczytaj geny powiązane z Lower limb spasticity oraz resztę swojego genomu za pomocą jednego badania.
Od 449 $Bezpłatna wysyłka · Wyniki w ciągu 6–8 tygodni
Zamawiam Genome Test73 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.
- Hereditary Spastic ParaplegiaReads 41 of these genesB4GALNT1CYP7B1ERLIN1ERLIN2FA2HGBA2About this report →
- Inherited Neurodegenerative DisordersReads 70 of these genesB4GALNT1CYP7B1DARS1ERLIN1ERLIN2FA2HAbout this report →
- Amyotrophic Lateral Sclerosis (ALS)Reads 10 of these genesSIGMAR1SOD1ALS2FUSSPG11SPTLC1About this report →
- Rare Hereditary Peripheral NeuropathiesReads 27 of these genesFDXRKIF1AMTRFROPA1RTN2SIGMAR1About this report →
Show 69 more reports
- Other Inherited LeukodystrophiesReads 13 of these genesDARS1GJC2GPRC5BPLP1GALCHEPACAMAbout this report →
- Pelizaeus-Merzbacher Disease & Hypomyelinating LeukodystrophiesReads 6 of these genesDARS1GJC2PLP1HIKESHIHSPD1RARS1About this report →
- Megalencephalic Leukoencephalopathy with Subcortical CystsReads 2 of these genesGPRC5BHEPACAMAbout this report →
- CYP7B1-Related Spastic Paraplegia and Liver DiseaseReads 1 of these genesCYP7B1About this report →
- DCMA Syndrome (3-Methylglutaconic Aciduria Type 5)Reads 1 of these genesDNAJC19About this report →
- Dias-Logan SyndromeReads 1 of these genesBCL11AAbout this report →
- FDXR-Related Mitochondrial DisorderReads 1 of these genesFDXRAbout this report →
- KIF5A-Related Amyotrophic Lateral SclerosisReads 1 of these genesKIF5AAbout this report →
- Krabbe DiseaseReads 1 of these genesGALCAbout this report →
- L1 SyndromeReads 1 of these genesL1CAMAbout this report →
- OPA1-Related Optic AtrophyReads 1 of these genesOPA1About this report →
- P5CS Deficiency (ALDH18A1-Related)Reads 1 of these genesALDH18A1About this report →
- PNPLA6-Related Ataxia, Retinal Dystrophy and HypogonadismReads 1 of these genesPNPLA6About this report →
- Rett Syndrome and MECP2-Related DisordersReads 1 of these genesMECP2About this report →
- Vici SyndromeReads 1 of these genesEPG5About this report →
- X-Linked Adrenoleukodystrophy (ABCD1)Reads 1 of these genesABCD1About this report →
- Charcot-Marie-Tooth DiseaseReads 8 of these genesRTN2SIGMAR1SORDSPG11MARS1VCPAbout this report →
- Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)Reads 4 of these genesKIF1AATL1SPTLC1SPTLC2About this report →
- Leigh SyndromeReads 7 of these genesMTRFROPA1FARS2MT-ATP6NDUFA13GFM2About this report →
- DNA Repair DiseaseReads 5 of these genesERCC1ERCC4ERCC6ERCC8MRE11About this report →
- Spinal Muscular AtrophyReads 4 of these genesSIGMAR1BICD2BSCL2REEP1About this report →
- Epilepsy (Full Panel)Reads 10 of these genesMECP2ARXHACE1NEXMIFWWOXCLCN4About this report →
- Cerebral Arteriopathy with Subcortical Infarcts and LeukoencephalopathyReads 1 of these genesNOTCH3About this report →
- Metachromatic LeukodystrophyReads 1 of these genesPSAPAbout this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 5 of these genesSYNE1SACSWWOXSTUB1VPS41About this report →
- Lysosomal Storage DiseaseReads 5 of these genesGNEAP5Z1GALCPSAPNEU1About this report →
- Lissencephaly Spectrum DisordersReads 3 of these genesARXRAB18RAB3GAP2About this report →
- Primary Mitochondrial DiseaseReads 7 of these genesCOX15MTRFROPA1COQ4FARS2NDUFA13About this report →
- Intellectual DisabilityReads 9 of these genesKIF1AMECP2NEXMIFPGAP1CAMK2BCLCN4About this report →
- Cerebral Creatine Deficiency SyndromesReads 1 of these genesGAMTAbout this report →
- Microphthalmia, Anophthalmia & ColobomaReads 3 of these genesRAB18RAB3GAP2ERCC1About this report →
- Parkinson DiseaseReads 2 of these genesFBXO7ATP13A2About this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 3 of these genesTSPOAP1PRRT2SLC2A1About this report →
- Thiamine Transporter and Metabolism DisordersReads 1 of these genesTPK1About this report →
- Distal MyopathiesReads 2 of these genesGNEVCPAbout this report →
- Surfactant Metabolism DysfunctionReads 1 of these genesMARS1About this report →
- Alpha-Mannosidosis and Other GlycoproteinosesReads 1 of these genesNEU1About this report →
- Aicardi-Goutieres SyndromeReads 1 of these genesIFIH1About this report →
- Disorders of Glycine & Serine MetabolismReads 1 of these genesSLC1A4About this report →
- Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)Reads 2 of these genesATXN10STUB1About this report →
- Long QT SyndromeReads 1 of these genesCACNA1CAbout this report →
- Neurodegeneration with Brain Iron Accumulation (NBIA)Reads 1 of these genesATP13A2About this report →
- Congenital Disorders of GlycosylationReads 3 of these genesGNEALG9PIGAAbout this report →
- Polycystic Kidney DiseaseReads 1 of these genesALG9About this report →
- LipodystrophyReads 1 of these genesBSCL2About this report →
- Type I InterferonopathiesReads 1 of these genesIFIH1About this report →
- Frontotemporal DementiaReads 1 of these genesVCPAbout this report →
- Hereditary Optic NeuropathyReads 1 of these genesOPA1About this report →
- Myofibrillar MyopathiesReads 1 of these genesKYAbout this report →
- Neuronal Ceroid LipofuscinosisReads 1 of these genesATP13A2About this report →
- Zellweger Spectrum & Peroxisome Biogenesis DisordersReads 1 of these genesPEX16About this report →
- Complex Cortical Dysplasia and Frontoparietal PolymicrogyriaReads 1 of these genesADGRG1About this report →
- Cutis LaxaReads 1 of these genesALDH18A1About this report →
- Primary Lymphoedema & Lymphatic MalformationsReads 1 of these genesGJC2About this report →
- Fanconi AnemiaReads 1 of these genesERCC4About this report →
- GPI Anchor Biosynthesis DefectsReads 1 of these genesPIGAAbout this report →
- Homocystinuria & Cobalamin DisordersReads 1 of these genesMTHFRAbout this report →
- Neonatal Diabetes MellitusReads 1 of these genesBSCL2About this report →
- Pontocerebellar Hypoplasia (TSEN54 and MINPP1)Reads 1 of these genesRARS2About this report →
- Other Inborn Errors of ImmunityReads 3 of these genesRFXANKRELIFIH1About this report →
- Congenital Myasthenic SyndromeReads 1 of these genesVAMP1About this report →
- Congenital Muscular DystrophiesReads 1 of these genesINPP5KAbout this report →
- Diabetes MellitusReads 1 of these genesBSCL2About this report →
- Severe Combined ImmunodeficiencyReads 1 of these genesRFXANKAbout this report →
- Inherited ThrombocytopeniasReads 1 of these genesGNEAbout this report →
- Osteogenesis ImperfectaReads 1 of these genesIFIH1About this report →
- Rare Monogenic Autoinflammatory DiseasesReads 1 of these genesIFIH1About this report →
- Dilated CardiomyopathyReads 1 of these genesSYNE1About this report →
- Hypogonadotropic HypogonadismReads 1 of these genesRAB3GAP2About this report →
Odczytaj geny powiązane z Lower limb spasticity oraz resztę swojego genomu za pomocą jednego badania.
Od 449 $Bezpłatna wysyłka · Wyniki w ciągu 6–8 tygodni
Zamawiam Genome Test153 genów powiązanych z Lower limb spasticity
Zmiany w tych genach powodują rzadkie choroby, w których występuje Lower limb spasticity. Większość osób z tą cechą nie ma żadnej z tych chorób, a gen z tej listy nic nie mówi o czyimkolwiek własnym genomie.
| Gen | Jak często występuje | Choroby |
|---|---|---|
| B4GALNT1beta-1,4-N-acetyl-galactosaminyltransferase 1 | Zawsze | W 2 chorobach |
| BORCS8BLOC-1 related complex subunit 8 | Zawsze | W 1 chorobie |
| COX15cytochrome c oxidase assembly factor COX15 | Zawsze | W 1 chorobie |
| CYP7B1cytochrome P450 family 7 subfamily B member 1 | Zawsze | W 2 chorobach |
| DARS1aspartyl-tRNA synthetase 1 | Zawsze | W 1 chorobie |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Zawsze | W 1 chorobie |
| EIF2AK1eukaryotic translation initiation factor 2 alpha kinase 1 | Zawsze | W 1 chorobie |
| EPG5ectopic P-granules 5 autophagy tethering factor | Zawsze | W 1 chorobie |
| ERLIN1ER lipid raft associated 1 | Zawsze | W 3 chorobach |
| ERLIN2ER lipid raft associated 2 | Zawsze | W 2 chorobach |
| FA2Hfatty acid 2-hydroxylase | Zawsze | W 2 chorobach |
| FBXO7F-box protein 7 | Zawsze | W 1 chorobie |
| FDXRferredoxin reductase | Zawsze | W 1 chorobie |
| GBA2glucosylceramidase beta 2 | Zawsze | W 3 chorobach |
| GJC2gap junction protein gamma 2 | Zawsze | W 2 chorobach |
| GPRC5BG protein-coupled receptor class C group 5 member B | Zawsze | W 1 chorobie |
| GTF3C3general transcription factor IIIC subunit 3 | Zawsze | W 1 chorobie |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Zawsze | W 1 chorobie |
| KIF1Akinesin family member 1A | Zawsze | W 3 chorobach |
| KIF5Akinesin family member 5A | Zawsze | W 2 chorobach |
| KPNA3karyopherin subunit alpha 3 | Zawsze | W 2 chorobach |
| MTRFRmitochondrial translation release factor in rescue | Zawsze | W 2 chorobach |
| NFU1NFU1 iron-sulfur cluster scaffold | Zawsze | W 1 chorobie |
| NOTCH3notch receptor 3 | Zawsze | W 1 chorobie |
| NT5C25'-nucleotidase, cytosolic II | Zawsze | W 2 chorobach |
| ODC1ornithine decarboxylase 1 | Zawsze | W 1 chorobie |
| OPA1OPA1 mitochondrial dynamin like GTPase | Zawsze | W 1 chorobie |
| PGBD5piggyBac transposable element derived 5 | Zawsze | W 1 chorobie |
| POLR1ARNA polymerase I subunit A | Zawsze | W 1 chorobie |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Zawsze | W 1 chorobie |
| RFXANKregulatory factor X associated ankyrin containing protein | Zawsze | W 1 chorobie |
| RNF170ring finger protein 170 | Zawsze | W 1 chorobie |
| RTN2reticulon 2 | Zawsze | W 3 chorobach |
| SELENOIselenoprotein I | Zawsze | W 1 chorobie |
| SIGMAR1sigma receptor chaperone 1 | Zawsze | W 2 chorobach |
| SOD1superoxide dismutase 1 | Zawsze | W 1 chorobie |
| SPARTspartin | Zawsze | W 1 chorobie |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Zawsze | W 1 chorobie |
| TANGO2transport and golgi organization 2 homolog | Zawsze | W 1 chorobie |
| TBCDtubulin folding cofactor D | Zawsze | W 1 chorobie |
Pokaż jeszcze 113 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| TFGtrafficking from ER to golgi regulator | Zawsze | W 1 chorobie |
| TMEM63Ctransmembrane protein 63C | Zawsze | W 1 chorobie |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Zawsze | W 1 chorobie |
| WASHC5WASH complex subunit 5 | Zawsze | W 2 chorobach |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Bardzo często (80–99%) | W 2 chorobach |
| ATL1atlastin GTPase 1 | Bardzo często (80–99%) | W 2 chorobach |
| ATP13A2ATPase cation transporting 13A2 | Bardzo często (80–99%) | W 1 chorobie |
| CAPN1calpain 1 | Bardzo często (80–99%) | W 2 chorobach |
| COQ4coenzyme Q4 | Bardzo często (80–99%) | W 1 chorobie |
| CPT1Ccarnitine palmitoyltransferase 1C | Bardzo często (80–99%) | W 1 chorobie |
| FUSFUS RNA binding protein | Bardzo często (80–99%) | W 1 chorobie |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Bardzo często (80–99%) | W 1 chorobie |
| MECP2methyl-CpG binding protein 2 | Bardzo często (80–99%) | W 2 chorobach |
| MTHFRmethylenetetrahydrofolate reductase | Bardzo często (80–99%) | W 1 chorobie |
| NIPA1NIPA magnesium transporter 1 | Bardzo często (80–99%) | W 2 chorobach |
| PLP1proteolipid protein 1 | Bardzo często (80–99%) | W 3 chorobach |
| SLC33A1solute carrier family 33 member 1 | Bardzo często (80–99%) | W 1 chorobie |
| SORDsorbitol dehydrogenase | Bardzo często (80–99%) | W 1 chorobie |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Bardzo często (80–99%) | W 2 chorobach |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Bardzo często (80–99%) | W 2 chorobach |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Bardzo często (80–99%) | W 1 chorobie |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Bardzo często (80–99%) | W 2 chorobach |
| TARDBPTAR DNA binding protein | Bardzo często (80–99%) | W 1 chorobie |
| TRMT2BtRNA methyltransferase 2B | Bardzo często (80–99%) | W 1 chorobie |
| UBAP1ubiquitin associated protein 1 | Bardzo często (80–99%) | W 2 chorobach |
| UBQLN2ubiquilin 2 | Bardzo często (80–99%) | W 1 chorobie |
| UCHL1ubiquitin C-terminal hydrolase L1 | Bardzo często (80–99%) | W 2 chorobach |
| VAMP1vesicle associated membrane protein 1 | Bardzo często (80–99%) | W 1 chorobie |
| ACBD6acyl-CoA binding domain containing 6 | Często (30–79%) | W 1 chorobie |
| AP5Z1adaptor related protein complex 5 subunit zeta 1 | Często (30–79%) | W 2 chorobach |
| ARSIarylsulfatase family member I | Często (30–79%) | W 1 chorobie |
| ARXaristaless related homeobox | Często (30–79%) | W 2 chorobach |
| BCL11ABCL11 transcription factor A | Często (30–79%) | W 1 chorobie |
| COQ5coenzyme Q5, methyltransferase | Często (30–79%) | W 1 chorobie |
| DDHD1DDHD domain containing 1 | Często (30–79%) | W 2 chorobach |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Często (30–79%) | W 1 chorobie |
| GALCgalactosylceramidase | Często (30–79%) | W 2 chorobach |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Często (30–79%) | W 2 chorobach |
| HEPACAMhepatic and glial cell adhesion molecule | Często (30–79%) | W 1 chorobie |
| HIKESHIheat shock protein nuclear import factor hikeshi | Często (30–79%) | W 1 chorobie |
| HSPD1heat shock protein family D (Hsp60) member 1 | Często (30–79%) | W 2 chorobach |
| KYkyphoscoliosis peptidase | Często (30–79%) | W 1 chorobie |
| MARS1methionyl-tRNA synthetase 1 | Często (30–79%) | W 1 chorobie |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Często (30–79%) | W 1 chorobie |
| NDUFA13NADH:ubiquinone oxidoreductase subunit A13 | Często (30–79%) | W 1 chorobie |
| NEXMIFneurite extension and migration factor | Często (30–79%) | W 1 chorobie |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Często (30–79%) | W 1 chorobie |
| PNPLA6patatin like domain 6, lysophospholipase | Często (30–79%) | W 2 chorobach |
| PSAPprosaposin | Często (30–79%) | W 1 chorobie |
| RAB18RAB18, member RAS oncogene family | Często (30–79%) | W 1 chorobie |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Często (30–79%) | W 1 chorobie |
| RARS1arginyl-tRNA synthetase 1 | Często (30–79%) | W 2 chorobach |
| RELREL proto-oncogene, NF-kB subunit | Często (30–79%) | W 1 chorobie |
| REPS1RALBP1 associated Eps domain containing 1 | Często (30–79%) | W 1 chorobie |
| SACSsacsin molecular chaperone | Często (30–79%) | W 1 chorobie |
| SLC1A4solute carrier family 1 member 4 | Często (30–79%) | W 1 chorobie |
| SPASTspastin | Często (30–79%) | W 2 chorobach |
| TSPOAP1TSPO associated protein 1 | Często (30–79%) | W 1 chorobie |
| TTI1TELO2 interacting protein 1 | Często (30–79%) | W 1 chorobie |
| UBE4Aubiquitination factor E4A | Często (30–79%) | W 1 chorobie |
| USP8ubiquitin specific peptidase 8 | Często (30–79%) | W 1 chorobie |
| WDR48WD repeat domain 48 | Często (30–79%) | W 1 chorobie |
| WWOXWW domain containing oxidoreductase | Często (30–79%) | W 1 chorobie |
| XPO1exportin 1 | Często (30–79%) | W 1 chorobie |
| ZFRzinc finger RNA binding protein | Często (30–79%) | W 1 chorobie |
| ZFYVE26zinc finger FYVE-type containing 26 | Często (30–79%) | W 2 chorobach |
| ZNF668zinc finger protein 668 | Często (30–79%) | W 1 chorobie |
| ABCD1ATP binding cassette subfamily D member 1 | Czasami (5–29%) | W 1 chorobie |
| ADGRG1adhesion G protein-coupled receptor G1 | Czasami (5–29%) | W 1 chorobie |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Czasami (5–29%) | W 1 chorobie |
| ATXN10ataxin 10 | Czasami (5–29%) | W 1 chorobie |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Czasami (5–29%) | W 1 chorobie |
| CLCN4Cl-/H+ antiporter 4 | Czasami (5–29%) | W 2 chorobach |
| CLTCclathrin heavy chain | Czasami (5–29%) | W 1 chorobie |
| CNTNAP2contactin associated protein 2 | Czasami (5–29%) | W 1 chorobie |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Czasami (5–29%) | W 1 chorobie |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Czasami (5–29%) | W 1 chorobie |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Czasami (5–29%) | W 2 chorobach |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Czasami (5–29%) | W 2 chorobach |
| GAMTguanidinoacetate N-methyltransferase | Czasami (5–29%) | W 1 chorobie |
| GATAD2BGATA zinc finger domain containing 2B | Czasami (5–29%) | W 1 chorobie |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Czasami (5–29%) | W 1 chorobie |
| H4C5H4 clustered histone 5 | Czasami (5–29%) | W 1 chorobie |
| IFIH1interferon induced with helicase C domain 1 | Czasami (5–29%) | W 1 chorobie |
| INPP5Kinositol polyphosphate-5-phosphatase K | Czasami (5–29%) | W 1 chorobie |
| LONP1lon peptidase 1, mitochondrial | Czasami (5–29%) | W 1 chorobie |
| NEU1neuraminidase 1 | Czasami (5–29%) | W 1 chorobie |
| PEX16peroxisomal biogenesis factor 16 | Czasami (5–29%) | W 1 chorobie |
| PI4KAphosphatidylinositol 4-kinase alpha | Czasami (5–29%) | W 1 chorobie |
| RAB3ARAB3A, member RAS oncogene family | Czasami (5–29%) | W 1 chorobie |
| SATB1SATB homeobox 1 | Czasami (5–29%) | W 1 chorobie |
| SATB2SATB homeobox 2 | Czasami (5–29%) | W 1 chorobie |
| SRPX2sushi repeat containing protein X-linked 2 | Czasami (5–29%) | W 1 chorobie |
| STUB1STIP1 homology and U-box containing protein 1 | Czasami (5–29%) | W 1 chorobie |
| TCEAL1transcription elongation factor A like 1 | Czasami (5–29%) | W 1 chorobie |
| TPK1thiamin pyrophosphokinase 1 | Czasami (5–29%) | W 1 chorobie |
| VCPvalosin containing protein | Czasami (5–29%) | W 1 chorobie |
| VPS41VPS41 subunit of HOPS complex | Czasami (5–29%) | W 1 chorobie |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Rzadko (1–4%) | W 1 chorobie |
| DNAJC19DnaJ heat shock protein family (Hsp40) member C19 | Rzadko (1–4%) | W 1 chorobie |
| PRRT2proline rich transmembrane protein 2 | Rzadko (1–4%) | W 1 chorobie |
| SLC2A1solute carrier family 2 member 1 | Rzadko (1–4%) | W 1 chorobie |
| ACTL6Bactin like 6B | Nie odnotowano | W 1 chorobie |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Nie odnotowano | W 1 chorobie |
| BICD2BICD cargo adaptor 2 | Nie odnotowano | W 1 chorobie |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Nie odnotowano | W 1 chorobie |
| CCT5chaperonin containing TCP1 subunit 5 | Nie odnotowano | W 1 chorobie |
| L1CAML1 cell adhesion molecule | Nie odnotowano | W 1 chorobie |
| MRE11MRE11 double strand break repair nuclease | Nie odnotowano | W 1 chorobie |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Nie odnotowano | W 1 chorobie |
| RARS2arginyl-tRNA synthetase 2, mitochondrial | Nie odnotowano | W 1 chorobie |
| REEP1receptor accessory protein 1 | Nie odnotowano | W 1 chorobie |
| VWA3Bvon Willebrand factor A domain containing 3B | Nie odnotowano | W 1 chorobie |
Jak często występuje wśród osób z jedną z chorób związanych z tym genem, najczęściej spośród wszystkich, według danych Human Phenotype Ontology. Te strony opisują cechy i badania, na których się opierają; nie są diagnozą, a w sprawie objawów należy zwrócić się do lekarza lub doradcy genetycznego.
Cechy podrzędne
Cechy nadrzędne
Skąd pochodzą te dane
- Human Phenotype Ontology, wydanie 2026-09-01: cecha, jej nazwy, definicja oraz geny z nią powiązane. Więcej informacji znajdą Państwo na stronie hpo.jax.org.
- Wydanie danych 2026.10.19-9814e911.
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