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Cecha
Infantile spasms
Infantile spasms represent a subset of "epileptic spasms". Infantile Spasms are epileptic spasms starting in the first year of life (infancy).
Podsumowanie
- Układ organizmu
- Abnormality of the nervous system
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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/infantile-spasms.json"
page <- fromJSON(url)
page$trait$nameInfantile spasmsHP:0012469
AtlasKomu pomagamyNasza naukaProduktyWyniki
Zaloguj sięZapytajZsekwencjonuj swój genom↗
Odczytaj geny powiązane z Infantile spasms oraz resztę swojego genomu za pomocą jednego badania.
Od 449 $Bezpłatna wysyłka · Wyniki w ciągu 6–8 tygodni
Zamawiam Genome Test62 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.
- Epilepsy (Full Panel)Reads 60 of these genesALG13ARXGABBR2GRIN2BNEUROD2SMC1AAbout this report →
- Complex Cortical Dysplasia and Frontoparietal PolymicrogyriaReads 8 of these genesTUBB2ATUBG1ADGRG1APC2CTNNA2TUBA1AAbout this report →
- Lissencephaly Spectrum DisordersReads 9 of these genesARXPAFAH1B1DCXTUBG1APC2CEP85LAbout this report →
- Leigh SyndromeReads 15 of these genesHIBCHNDUFAF8BTDMT-ATP6MT-ND1MT-ND3About this report →
Show 58 more reports
- TubulinopathiesReads 3 of these genesTUBB2ATUBA1ATUBB3About this report →
- Rare Hereditary Peripheral NeuropathiesReads 22 of these genesSPTAN1HIBCHNDUFAF8BTDFDXRFHAbout this report →
- Tuberous SclerosisReads 2 of these genesTSC1TSC2About this report →
- Pontocerebellar Hypoplasia (TSEN54 and MINPP1)Reads 6 of these genesVPS53SEPSECSTSEN15TSEN2TSEN54PPIL1About this report →
- Spinal Muscular AtrophyReads 6 of these genesSPTAN1SEPSECSTSEN15TSEN2TSEN54ASAH1About this report →
- Hereditary Optic NeuropathyReads 4 of these genesMT-ND1MT-ND4MT-ND5MT-ND6About this report →
- Hereditary Episodic AtaxiasReads 2 of these genesSCN2AKCNA1About this report →
- ARFGEF1-Related Neurodevelopmental DisorderReads 1 of these genesARFGEF1About this report →
- CDH2-Related ACOGSReads 1 of these genesCDH2About this report →
- FDXR-Related Mitochondrial DisorderReads 1 of these genesFDXRAbout this report →
- Hereditary Leiomyomatosis and Renal Cell CancerReads 1 of these genesFHAbout this report →
- HIBCH DeficiencyReads 1 of these genesHIBCHAbout this report →
- NGLY1 DeficiencyReads 1 of these genesNGLY1About this report →
- Rett Syndrome and MECP2-Related DisordersReads 1 of these genesMECP2About this report →
- Snijders Blok-Campeau SyndromeReads 1 of these genesCHD3About this report →
- SPTBN1-Related Neurodevelopmental DisorderReads 1 of these genesSPTBN1About this report →
- TRIM8-Related Neurodevelopmental and Kidney DisorderReads 1 of these genesTRIM8About this report →
- UNC13A-Related Neurodevelopmental DisordersReads 1 of these genesUNC13AAbout this report →
- Intellectual DisabilityReads 14 of these genesGRIN2BSCN2ANACC1RUSC2ATP2B1CASKAbout this report →
- Syndromic Complex Neurodevelopmental DisorderReads 4 of these genesTRA2BAFG2ATRPM3ZFHX3About this report →
- Inherited Neurodegenerative DisordersReads 16 of these genesSPTAN1WDR45ZNHIT3SEPSECSTSEN15TSEN2About this report →
- Congenital Disorders of GlycosylationReads 8 of these genesALG13ALG14ALG2DPAGT1PIGASLC35A2About this report →
- Congenital Cranial Dysinnervation DisordersReads 2 of these genesTUBA1ATUBB3About this report →
- Disorders of Glycine & Serine MetabolismReads 2 of these genesGCSHSLC1A4About this report →
- Biotinidase & Holocarboxylase DeficiencyReads 1 of these genesBTDAbout this report →
- GPI Anchor Biosynthesis DefectsReads 3 of these genesPIGAPIGPPIGQAbout this report →
- Congenital Myasthenic SyndromeReads 3 of these genesALG14ALG2DPAGT1About this report →
- Methylmalonic & Propionic AcidemiaReads 2 of these genesHCFC1MMACHCAbout this report →
- Thiamine Transporter and Metabolism DisordersReads 1 of these genesSLC19A3About this report →
- Homocystinuria & Cobalamin DisordersReads 2 of these genesHCFC1MMACHCAbout this report →
- Periventricular Nodular HeterotopiaReads 1 of these genesNEDD4LAbout this report →
- Cornelia de Lange SyndromeReads 1 of these genesSMC1AAbout this report →
- Classic Organic AciduriasReads 1 of these genesGCDHAbout this report →
- Pyruvate Kinase Deficiency and Other Red Cell Enzyme DisordersReads 1 of these genesHK1About this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 2 of these genesPNKPPRRT2About this report →
- Complex Neurodevelopmental Disorder With Motor FeaturesReads 1 of these genesTUBB2AAbout this report →
- Pyruvate Dehydrogenase & Pyruvate Carboxylase DeficiencyReads 1 of these genesPDHA1About this report →
- Neurodegeneration with Brain Iron Accumulation (NBIA)Reads 1 of these genesWDR45About this report →
- Arrhythmogenic CardiomyopathyReads 1 of these genesCDH2About this report →
- HyperinsulinismReads 1 of these genesHK1About this report →
- Coffin-Siris SyndromeReads 1 of these genesARID2About this report →
- Monogenic Hypertension & Mineralocorticoid DisordersReads 1 of these genesCUL3About this report →
- Primary Mitochondrial DiseaseReads 3 of these genesNDUFAF8SUCLA2FBXL4About this report →
- Hypertrophic CardiomyopathyReads 2 of these genesDHX37MAPK1About this report →
- Cutis LaxaReads 1 of these genesATP6V1AAbout this report →
- 46,XY Differences of Sex Development and Gonadal DysgenesisReads 1 of these genesDHX37About this report →
- Charcot-Marie-Tooth DiseaseReads 2 of these genesSPTAN1HK1About this report →
- Noonan SyndromeReads 1 of these genesMAPK1About this report →
- Microphthalmia, Anophthalmia & ColobomaReads 1 of these genesERCC5About this report →
- Diabetes MellitusReads 1 of these genesMT-TL1About this report →
- Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)Reads 1 of these genesZFHX3About this report →
- DNA Repair DiseaseReads 1 of these genesERCC5About this report →
- Dilated CardiomyopathyReads 1 of these genesDOLKAbout this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 1 of these genesPNKPAbout this report →
- Lysosomal Storage DiseaseReads 1 of these genesASAH1About this report →
- Hereditary Spastic ParaplegiaReads 1 of these genesSPTAN1About this report →
- Retinitis PigmentosaReads 1 of these genesHK1About this report →
- Hearing Loss and DeafnessReads 1 of these genesAFG2BAbout this report →
Odczytaj geny powiązane z Infantile spasms oraz resztę swojego genomu za pomocą jednego badania.
Od 449 $Bezpłatna wysyłka · Wyniki w ciągu 6–8 tygodni
Zamawiam Genome Test178 genów powiązanych z Infantile spasms
Zmiany w tych genach powodują rzadkie choroby, w których występuje Infantile spasms. 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 |
|---|---|---|
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Zawsze | W 2 chorobach |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Zawsze | W 1 chorobie |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Zawsze | W 2 chorobach |
| ARFGEF1ARF guanine nucleotide exchange factor 1 | Zawsze | W 1 chorobie |
| ARID2AT-rich interaction domain 2 | Zawsze | W 1 chorobie |
| ARXaristaless related homeobox | Zawsze | W 4 chorobach |
| ATP6V0CATPase H+ transporting V0 subunit c | Zawsze | W 1 chorobie |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Zawsze | W 1 chorobie |
| DOT1LDOT1 like histone lysine methyltransferase | Zawsze | W 1 chorobie |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Zawsze | W 1 chorobie |
| EIF4A2eukaryotic translation initiation factor 4A2 | Zawsze | W 1 chorobie |
| ERCC5ERCC excision repair 5, endonuclease | Zawsze | W 1 chorobie |
| ERMARDER membrane associated RNA degradation | Zawsze | W 1 chorobie |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Zawsze | W 2 chorobach |
| GCSHglycine cleavage system protein H | Zawsze | W 1 chorobie |
| GOLGA2golgin A2 | Zawsze | W 1 chorobie |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Zawsze | W 2 chorobach |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Zawsze | W 1 chorobie |
| KLHL20kelch like family member 20 | Zawsze | W 1 chorobie |
| NEUROD2neuronal differentiation 2 | Zawsze | W 2 chorobach |
| PTPN23protein tyrosine phosphatase non-receptor type 23 | Zawsze | W 1 chorobie |
| RBSNrabenosyn, RAB effector | Zawsze | W 1 chorobie |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Zawsze | W 1 chorobie |
| SLC25A10solute carrier family 25 member 10 | Zawsze | W 1 chorobie |
| SMC1Astructural maintenance of chromosomes 1A | Zawsze | W 2 chorobach |
| SPOUT1SPOUT domain containing methyltransferase 1 | Zawsze | W 1 chorobie |
| TMEM63Btransmembrane protein 63B | Zawsze | W 1 chorobie |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Zawsze | W 1 chorobie |
| VPS53VPS53 subunit of GARP complex | Zawsze | W 1 chorobie |
| CDKL5cyclin dependent kinase like 5 | Bardzo często (80–99%) | W 5 chorobach |
| CNPY3canopy FGF signaling regulator 3 | Bardzo często (80–99%) | W 1 chorobie |
| DMXL2Dmx like 2 | Bardzo często (80–99%) | W 2 chorobach |
| GUF1GTP binding elongation factor GUF1 | Bardzo często (80–99%) | W 1 chorobie |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Bardzo często (80–99%) | W 1 chorobie |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Bardzo często (80–99%) | W 1 chorobie |
| PHACTR1phosphatase and actin regulator 1 | Bardzo często (80–99%) | W 1 chorobie |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Bardzo często (80–99%) | W 2 chorobach |
| PLCB1phospholipase C beta 1 | Bardzo często (80–99%) | W 1 chorobie |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Bardzo często (80–99%) | W 2 chorobach |
| SIK1salt inducible kinase 1 | Bardzo często (80–99%) | W 2 chorobach |
Pokaż jeszcze 138 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| SPTAN1spectrin alpha, non-erythrocytic 1 | Bardzo często (80–99%) | W 2 chorobach |
| STRADASTE20 related adaptor alpha | Bardzo często (80–99%) | W 1 chorobie |
| WDR45WD repeat domain 45 | Bardzo często (80–99%) | W 1 chorobie |
| ZNHIT3zinc finger HIT-type containing 3 | Bardzo często (80–99%) | W 1 chorobie |
| ATP6V1AATPase H+ transporting V1 subunit A | Często (30–79%) | W 1 chorobie |
| CDK19cyclin dependent kinase 19 | Często (30–79%) | W 1 chorobie |
| CUL3cullin 3 | Często (30–79%) | W 1 chorobie |
| D2HGDHD-2-hydroxyglutarate dehydrogenase | Często (30–79%) | W 1 chorobie |
| DCXdoublecortin | Często (30–79%) | W 1 chorobie |
| DNM1dynamin 1 | Często (30–79%) | W 1 chorobie |
| DOCK7dedicator of cytokinesis 7 | Często (30–79%) | W 2 chorobach |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Często (30–79%) | W 1 chorobie |
| FBLN1fibulin 1 | Często (30–79%) | W 1 chorobie |
| FBXO28F-box protein 28 | Często (30–79%) | W 1 chorobie |
| GABRB3gamma-aminobutyric acid type A receptor subunit beta3 | Często (30–79%) | W 1 chorobie |
| GNAQG protein subunit alpha q | Często (30–79%) | W 1 chorobie |
| HIBCH3-hydroxyisobutyryl-CoA hydrolase | Często (30–79%) | W 1 chorobie |
| IFNGinterferon gamma | Często (30–79%) | W 2 chorobach |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Często (30–79%) | W 1 chorobie |
| NACC1nucleus accumbens associated 1 | Często (30–79%) | W 1 chorobie |
| NDUFAF8NADH:ubiquinone oxidoreductase complex assembly factor 8 | Często (30–79%) | W 1 chorobie |
| OTUD7AOTU deubiquitinase 7A | Często (30–79%) | W 1 chorobie |
| PCDH12protocadherin 12 | Często (30–79%) | W 1 chorobie |
| RALGAPA1Ral GTPase activating protein catalytic subunit alpha 1 | Często (30–79%) | W 1 chorobie |
| RNU2-2RNA, U2 small nuclear 2 | Często (30–79%) | W 1 chorobie |
| RUSC2RUN and SH3 domain containing 2 | Często (30–79%) | W 1 chorobie |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Często (30–79%) | W 1 chorobie |
| SLC35A2solute carrier family 35 member A2 | Często (30–79%) | W 1 chorobie |
| STAMBPSTAM binding protein | Często (30–79%) | W 1 chorobie |
| TRA2Btransformer 2 beta homolog | Często (30–79%) | W 1 chorobie |
| TSC1TSC complex subunit 1 | Często (30–79%) | W 2 chorobach |
| TSC2TSC complex subunit 2 | Często (30–79%) | W 2 chorobach |
| TSEN15tRNA splicing endonuclease subunit 15 | Często (30–79%) | W 1 chorobie |
| TSEN2tRNA splicing endonuclease subunit 2 | Często (30–79%) | W 1 chorobie |
| TSEN34tRNA splicing endonuclease subunit 34 | Często (30–79%) | W 1 chorobie |
| TSEN54tRNA splicing endonuclease subunit 54 | Często (30–79%) | W 1 chorobie |
| TUBB2Atubulin beta 2A class IIa | Często (30–79%) | W 1 chorobie |
| TUBG1tubulin gamma 1 | Często (30–79%) | W 1 chorobie |
| UBA5ubiquitin like modifier activating enzyme 5 | Często (30–79%) | W 1 chorobie |
| UFSP2UFM1 specific peptidase 2 | Często (30–79%) | W 1 chorobie |
| UNC13Aunc-13 homolog A | Często (30–79%) | W 1 chorobie |
| ACTL6Bactin like 6B | Czasami (5–29%) | W 1 chorobie |
| ADGRG1adhesion G protein-coupled receptor G1 | Czasami (5–29%) | W 1 chorobie |
| AFG2AAAA ATPase AFG2A | Czasami (5–29%) | W 1 chorobie |
| AFG2BAAA ATPase AFG2B | Czasami (5–29%) | W 1 chorobie |
| APC2APC regulator of Wnt signaling pathway 2 | Czasami (5–29%) | W 1 chorobie |
| ATP2B1ATPase plasma membrane Ca2+ transporting 1 | Czasami (5–29%) | W 1 chorobie |
| BTDbiotinidase | Czasami (5–29%) | W 1 chorobie |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Czasami (5–29%) | W 1 chorobie |
| CAPRIN1cell cycle associated protein 1 | Czasami (5–29%) | W 1 chorobie |
| CASKcalcium/calmodulin dependent serine protein kinase | Czasami (5–29%) | W 1 chorobie |
| CDC40cell division cycle 40 | Czasami (5–29%) | W 1 chorobie |
| CDH2cadherin 2 | Czasami (5–29%) | W 1 chorobie |
| CEP85Lcentrosomal protein 85L | Czasami (5–29%) | W 1 chorobie |
| CLCN4Cl-/H+ antiporter 4 | Czasami (5–29%) | W 1 chorobie |
| CNTNAP2contactin associated protein 2 | Czasami (5–29%) | W 1 chorobie |
| CRELD1CRELD disulfide isomerase 1 | Czasami (5–29%) | W 1 chorobie |
| CTNNA2catenin alpha 2 | Czasami (5–29%) | W 1 chorobie |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Czasami (5–29%) | W 2 chorobach |
| DHX16DEAH-box helicase 16 | Czasami (5–29%) | W 1 chorobie |
| DHX37DEAH-box helicase 37 | Czasami (5–29%) | W 1 chorobie |
| DOLKdolichol kinase | Czasami (5–29%) | W 1 chorobie |
| FDXRferredoxin reductase | Czasami (5–29%) | W 1 chorobie |
| FHfumarate hydratase | Czasami (5–29%) | W 1 chorobie |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Czasami (5–29%) | W 1 chorobie |
| GCDHglutaryl-CoA dehydrogenase | Czasami (5–29%) | W 1 chorobie |
| GLULglutamate-ammonia ligase | Czasami (5–29%) | W 1 chorobie |
| GNAO1G protein subunit alpha o1 | Czasami (5–29%) | W 2 chorobach |
| GNB1G protein subunit beta 1 | Czasami (5–29%) | W 1 chorobie |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Czasami (5–29%) | W 2 chorobach |
| GRM7glutamate metabotropic receptor 7 | Czasami (5–29%) | W 1 chorobie |
| HCFC1host cell factor C1 | Czasami (5–29%) | W 1 chorobie |
| HDAC4histone deacetylase 4 | Czasami (5–29%) | W 1 chorobie |
| HK1hexokinase 1 | Czasami (5–29%) | W 1 chorobie |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Czasami (5–29%) | W 1 chorobie |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Czasami (5–29%) | W 1 chorobie |
| KCNQ5potassium voltage-gated channel subfamily Q member 5 | Czasami (5–29%) | W 1 chorobie |
| KDM4Blysine demethylase 4B | Czasami (5–29%) | W 1 chorobie |
| LGI1leucine rich glioma inactivated 1 | Czasami (5–29%) | W 1 chorobie |
| LONP1lon peptidase 1, mitochondrial | Czasami (5–29%) | W 1 chorobie |
| MACF1microtubule actin crosslinking factor 1 | Czasami (5–29%) | W 2 chorobach |
| MAPK1mitogen-activated protein kinase 1 | Czasami (5–29%) | W 1 chorobie |
| MECP2methyl-CpG binding protein 2 | Czasami (5–29%) | W 1 chorobie |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Czasami (5–29%) | W 1 chorobie |
| MMACHCmetabolism of cobalamin associated C | Czasami (5–29%) | W 1 chorobie |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Czasami (5–29%) | W 1 chorobie |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Czasami (5–29%) | W 1 chorobie |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Czasami (5–29%) | W 1 chorobie |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Czasami (5–29%) | W 1 chorobie |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Czasami (5–29%) | W 1 chorobie |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Czasami (5–29%) | W 1 chorobie |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Czasami (5–29%) | W 1 chorobie |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Czasami (5–29%) | W 1 chorobie |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Czasami (5–29%) | W 1 chorobie |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Czasami (5–29%) | W 1 chorobie |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Czasami (5–29%) | W 1 chorobie |
| NAXDNAD(P)HX dehydratase | Czasami (5–29%) | W 1 chorobie |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Czasami (5–29%) | W 1 chorobie |
| NEXMIFneurite extension and migration factor | Czasami (5–29%) | W 1 chorobie |
| NGLY1N-glycanase 1 | Czasami (5–29%) | W 1 chorobie |
| NPRL2NPR2 like, GATOR1 complex subunit | Czasami (5–29%) | W 1 chorobie |
| NPRL3NPR3 like, GATOR1 complex subunit | Czasami (5–29%) | W 1 chorobie |
| NTNG1netrin G1 | Czasami (5–29%) | W 1 chorobie |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Czasami (5–29%) | W 1 chorobie |
| PI4KAphosphatidylinositol 4-kinase alpha | Czasami (5–29%) | W 1 chorobie |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Czasami (5–29%) | W 1 chorobie |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Czasami (5–29%) | W 1 chorobie |
| PNKPpolynucleotide kinase 3'-phosphatase | Czasami (5–29%) | W 1 chorobie |
| POLR1ARNA polymerase I subunit A | Czasami (5–29%) | W 1 chorobie |
| PPIL1peptidylprolyl isomerase like 1 | Czasami (5–29%) | W 1 chorobie |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Czasami (5–29%) | W 1 chorobie |
| PRRT2proline rich transmembrane protein 2 | Czasami (5–29%) | W 2 chorobach |
| RHOBTB2Rho related BTB domain containing 2 | Czasami (5–29%) | W 1 chorobie |
| RNF13ring finger protein 13 | Czasami (5–29%) | W 1 chorobie |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Czasami (5–29%) | W 1 chorobie |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Czasami (5–29%) | W 1 chorobie |
| SLC19A3solute carrier family 19 member 3 | Czasami (5–29%) | W 1 chorobie |
| SLC1A4solute carrier family 1 member 4 | Czasami (5–29%) | W 1 chorobie |
| SLC25A22solute carrier family 25 member 22 | Czasami (5–29%) | W 1 chorobie |
| SLC32A1solute carrier family 32 member 1 | Czasami (5–29%) | W 1 chorobie |
| SRPX2sushi repeat containing protein X-linked 2 | Czasami (5–29%) | W 1 chorobie |
| STXBP1syntaxin binding protein 1 | Czasami (5–29%) | W 1 chorobie |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Czasami (5–29%) | W 1 chorobie |
| TANGO2transport and golgi organization 2 homolog | Czasami (5–29%) | W 1 chorobie |
| TRIM8tripartite motif containing 8 | Czasami (5–29%) | W 2 chorobach |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Czasami (5–29%) | W 1 chorobie |
| TUBA1Atubulin alpha 1a | Czasami (5–29%) | W 2 chorobach |
| TUBA8tubulin alpha 8 | Czasami (5–29%) | W 1 chorobie |
| TUBB2Btubulin beta 2B class IIb | Czasami (5–29%) | W 2 chorobach |
| TUBB3tubulin beta 3 class III | Czasami (5–29%) | W 1 chorobie |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Czasami (5–29%) | W 1 chorobie |
| ZFHX3zinc finger homeobox 3 | Czasami (5–29%) | W 1 chorobie |
| ACBD6acyl-CoA binding domain containing 6 | Rzadko (1–4%) | W 1 chorobie |
| ASAH1N-acylsphingosine amidohydrolase 1 | Rzadko (1–4%) | W 1 chorobie |
| CHD3chromodomain helicase DNA binding protein 3 | Rzadko (1–4%) | W 1 chorobie |
| FBXL4F-box and leucine rich repeat protein 4 | Rzadko (1–4%) | W 1 chorobie |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Rzadko (1–4%) | W 1 chorobie |
| SPTBN1spectrin beta, non-erythrocytic 1 | Rzadko (1–4%) | 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 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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