Atlas이런 분들을 위해과학적 근거제품연구 성과
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형질
Infantile spasms
Infantile spasms represent a subset of "epileptic spasms". Infantile Spasms are epileptic spasms starting in the first year of life (infancy).
Atlas이런 분들을 위해과학적 근거제품연구 성과
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이 페이지의 데이터
페이지 주소 끝에 .json을 붙이거나 application/json을 요청하면 JSON 형식으로 읽을 수 있습니다.
library(jsonlite)
url <- "https://dantelabs.com/traits/infantile-spasms.json"
page <- fromJSON(url)
page$trait$nameInfantile spasmsHP:0012469
Atlas이런 분들을 위해과학적 근거제품연구 성과
로그인질문하기유전체를 시퀀싱하세요↗
62 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 →
연관 유전자 178개: Infantile spasms
이 유전자들의 변화는 Infantile spasms 증상이 나타나는 희귀 질환을 일으킵니다. 이 형질을 가진 대부분의 사람에게는 이러한 질환이 없으며, 이 목록에 있는 유전자가 누구의 개인 유전체에 대해서도 말해 주는 것은 없습니다.
| 유전자 | 나타나는 빈도 | 질환 |
|---|---|---|
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | 항상 | 질환 2개에서 나타남 |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | 항상 | 질환 1개에서 나타남 |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | 항상 | 질환 2개에서 나타남 |
| ARFGEF1ARF guanine nucleotide exchange factor 1 | 항상 | 질환 1개에서 나타남 |
| ARID2AT-rich interaction domain 2 | 항상 | 질환 1개에서 나타남 |
| ARXaristaless related homeobox | 항상 | 질환 4개에서 나타남 |
| ATP6V0CATPase H+ transporting V0 subunit c | 항상 | 질환 1개에서 나타남 |
| CHASERRCHD2 adjacent suppressive regulatory RNA | 항상 | 질환 1개에서 나타남 |
| DOT1LDOT1 like histone lysine methyltransferase | 항상 | 질환 1개에서 나타남 |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | 항상 | 질환 1개에서 나타남 |
| EIF4A2eukaryotic translation initiation factor 4A2 | 항상 | 질환 1개에서 나타남 |
| ERCC5ERCC excision repair 5, endonuclease | 항상 | 질환 1개에서 나타남 |
| ERMARDER membrane associated RNA degradation | 항상 | 질환 1개에서 나타남 |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | 항상 | 질환 2개에서 나타남 |
| GCSHglycine cleavage system protein H | 항상 | 질환 1개에서 나타남 |
| GOLGA2golgin A2 | 항상 | 질환 1개에서 나타남 |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | 항상 | 질환 2개에서 나타남 |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | 항상 | 질환 1개에서 나타남 |
| KLHL20kelch like family member 20 | 항상 | 질환 1개에서 나타남 |
| NEUROD2neuronal differentiation 2 | 항상 | 질환 2개에서 나타남 |
| PTPN23protein tyrosine phosphatase non-receptor type 23 | 항상 | 질환 1개에서 나타남 |
| RBSNrabenosyn, RAB effector | 항상 | 질환 1개에서 나타남 |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | 항상 | 질환 1개에서 나타남 |
| SLC25A10solute carrier family 25 member 10 | 항상 | 질환 1개에서 나타남 |
| SMC1Astructural maintenance of chromosomes 1A | 항상 | 질환 2개에서 나타남 |
| SPOUT1SPOUT domain containing methyltransferase 1 | 항상 | 질환 1개에서 나타남 |
| TMEM63Btransmembrane protein 63B | 항상 | 질환 1개에서 나타남 |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | 항상 | 질환 1개에서 나타남 |
| VPS53VPS53 subunit of GARP complex | 항상 | 질환 1개에서 나타남 |
| CDKL5cyclin dependent kinase like 5 | 매우 자주 (80–99%) | 질환 5개에서 나타남 |
| CNPY3canopy FGF signaling regulator 3 | 매우 자주 (80–99%) | 질환 1개에서 나타남 |
| DMXL2Dmx like 2 | 매우 자주 (80–99%) | 질환 2개에서 나타남 |
| GUF1GTP binding elongation factor GUF1 | 매우 자주 (80–99%) | 질환 1개에서 나타남 |
| NTRK2neurotrophic receptor tyrosine kinase 2 | 매우 자주 (80–99%) | 질환 1개에서 나타남 |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | 매우 자주 (80–99%) | 질환 1개에서 나타남 |
| PHACTR1phosphatase and actin regulator 1 | 매우 자주 (80–99%) | 질환 1개에서 나타남 |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | 매우 자주 (80–99%) | 질환 2개에서 나타남 |
| PLCB1phospholipase C beta 1 | 매우 자주 (80–99%) | 질환 1개에서 나타남 |
| SCN2Asodium voltage-gated channel alpha subunit 2 | 매우 자주 (80–99%) | 질환 2개에서 나타남 |
| SIK1salt inducible kinase 1 | 매우 자주 (80–99%) | 질환 2개에서 나타남 |
유전자 138개 더 보기
| 유전자 | 나타나는 빈도 | 질환 |
|---|---|---|
| SPTAN1spectrin alpha, non-erythrocytic 1 | 매우 자주 (80–99%) | 질환 2개에서 나타남 |
| STRADASTE20 related adaptor alpha | 매우 자주 (80–99%) | 질환 1개에서 나타남 |
| WDR45WD repeat domain 45 | 매우 자주 (80–99%) | 질환 1개에서 나타남 |
| ZNHIT3zinc finger HIT-type containing 3 | 매우 자주 (80–99%) | 질환 1개에서 나타남 |
| ATP6V1AATPase H+ transporting V1 subunit A | 자주 (30–79%) | 질환 1개에서 나타남 |
| CDK19cyclin dependent kinase 19 | 자주 (30–79%) | 질환 1개에서 나타남 |
| CUL3cullin 3 | 자주 (30–79%) | 질환 1개에서 나타남 |
| D2HGDHD-2-hydroxyglutarate dehydrogenase | 자주 (30–79%) | 질환 1개에서 나타남 |
| DCXdoublecortin | 자주 (30–79%) | 질환 1개에서 나타남 |
| DNM1dynamin 1 | 자주 (30–79%) | 질환 1개에서 나타남 |
| DOCK7dedicator of cytokinesis 7 | 자주 (30–79%) | 질환 2개에서 나타남 |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | 자주 (30–79%) | 질환 1개에서 나타남 |
| FBLN1fibulin 1 | 자주 (30–79%) | 질환 1개에서 나타남 |
| FBXO28F-box protein 28 | 자주 (30–79%) | 질환 1개에서 나타남 |
| GABRB3gamma-aminobutyric acid type A receptor subunit beta3 | 자주 (30–79%) | 질환 1개에서 나타남 |
| GNAQG protein subunit alpha q | 자주 (30–79%) | 질환 1개에서 나타남 |
| HIBCH3-hydroxyisobutyryl-CoA hydrolase | 자주 (30–79%) | 질환 1개에서 나타남 |
| IFNGinterferon gamma | 자주 (30–79%) | 질환 2개에서 나타남 |
| KCNB1potassium voltage-gated channel subfamily B member 1 | 자주 (30–79%) | 질환 1개에서 나타남 |
| NACC1nucleus accumbens associated 1 | 자주 (30–79%) | 질환 1개에서 나타남 |
| NDUFAF8NADH:ubiquinone oxidoreductase complex assembly factor 8 | 자주 (30–79%) | 질환 1개에서 나타남 |
| OTUD7AOTU deubiquitinase 7A | 자주 (30–79%) | 질환 1개에서 나타남 |
| PCDH12protocadherin 12 | 자주 (30–79%) | 질환 1개에서 나타남 |
| RALGAPA1Ral GTPase activating protein catalytic subunit alpha 1 | 자주 (30–79%) | 질환 1개에서 나타남 |
| RNU2-2RNA, U2 small nuclear 2 | 자주 (30–79%) | 질환 1개에서 나타남 |
| RUSC2RUN and SH3 domain containing 2 | 자주 (30–79%) | 질환 1개에서 나타남 |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | 자주 (30–79%) | 질환 1개에서 나타남 |
| SLC35A2solute carrier family 35 member A2 | 자주 (30–79%) | 질환 1개에서 나타남 |
| STAMBPSTAM binding protein | 자주 (30–79%) | 질환 1개에서 나타남 |
| TRA2Btransformer 2 beta homolog | 자주 (30–79%) | 질환 1개에서 나타남 |
| TSC1TSC complex subunit 1 | 자주 (30–79%) | 질환 2개에서 나타남 |
| TSC2TSC complex subunit 2 | 자주 (30–79%) | 질환 2개에서 나타남 |
| TSEN15tRNA splicing endonuclease subunit 15 | 자주 (30–79%) | 질환 1개에서 나타남 |
| TSEN2tRNA splicing endonuclease subunit 2 | 자주 (30–79%) | 질환 1개에서 나타남 |
| TSEN34tRNA splicing endonuclease subunit 34 | 자주 (30–79%) | 질환 1개에서 나타남 |
| TSEN54tRNA splicing endonuclease subunit 54 | 자주 (30–79%) | 질환 1개에서 나타남 |
| TUBB2Atubulin beta 2A class IIa | 자주 (30–79%) | 질환 1개에서 나타남 |
| TUBG1tubulin gamma 1 | 자주 (30–79%) | 질환 1개에서 나타남 |
| UBA5ubiquitin like modifier activating enzyme 5 | 자주 (30–79%) | 질환 1개에서 나타남 |
| UFSP2UFM1 specific peptidase 2 | 자주 (30–79%) | 질환 1개에서 나타남 |
| UNC13Aunc-13 homolog A | 자주 (30–79%) | 질환 1개에서 나타남 |
| ACTL6Bactin like 6B | 가끔 (5–29%) | 질환 1개에서 나타남 |
| ADGRG1adhesion G protein-coupled receptor G1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| AFG2AAAA ATPase AFG2A | 가끔 (5–29%) | 질환 1개에서 나타남 |
| AFG2BAAA ATPase AFG2B | 가끔 (5–29%) | 질환 1개에서 나타남 |
| APC2APC regulator of Wnt signaling pathway 2 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| ATP2B1ATPase plasma membrane Ca2+ transporting 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| BTDbiotinidase | 가끔 (5–29%) | 질환 1개에서 나타남 |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | 가끔 (5–29%) | 질환 1개에서 나타남 |
| CAPRIN1cell cycle associated protein 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| CASKcalcium/calmodulin dependent serine protein kinase | 가끔 (5–29%) | 질환 1개에서 나타남 |
| CDC40cell division cycle 40 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| CDH2cadherin 2 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| CEP85Lcentrosomal protein 85L | 가끔 (5–29%) | 질환 1개에서 나타남 |
| CLCN4Cl-/H+ antiporter 4 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| CNTNAP2contactin associated protein 2 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| CRELD1CRELD disulfide isomerase 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| CTNNA2catenin alpha 2 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | 가끔 (5–29%) | 질환 2개에서 나타남 |
| DHX16DEAH-box helicase 16 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| DHX37DEAH-box helicase 37 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| DOLKdolichol kinase | 가끔 (5–29%) | 질환 1개에서 나타남 |
| FDXRferredoxin reductase | 가끔 (5–29%) | 질환 1개에서 나타남 |
| FHfumarate hydratase | 가끔 (5–29%) | 질환 1개에서 나타남 |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| GCDHglutaryl-CoA dehydrogenase | 가끔 (5–29%) | 질환 1개에서 나타남 |
| GLULglutamate-ammonia ligase | 가끔 (5–29%) | 질환 1개에서 나타남 |
| GNAO1G protein subunit alpha o1 | 가끔 (5–29%) | 질환 2개에서 나타남 |
| GNB1G protein subunit beta 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | 가끔 (5–29%) | 질환 2개에서 나타남 |
| GRM7glutamate metabotropic receptor 7 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| HCFC1host cell factor C1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| HDAC4histone deacetylase 4 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| HK1hexokinase 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| KCNA1potassium voltage-gated channel subfamily A member 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| KCNH5potassium voltage-gated channel subfamily H member 5 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| KCNQ5potassium voltage-gated channel subfamily Q member 5 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| KDM4Blysine demethylase 4B | 가끔 (5–29%) | 질환 1개에서 나타남 |
| LGI1leucine rich glioma inactivated 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| LONP1lon peptidase 1, mitochondrial | 가끔 (5–29%) | 질환 1개에서 나타남 |
| MACF1microtubule actin crosslinking factor 1 | 가끔 (5–29%) | 질환 2개에서 나타남 |
| MAPK1mitogen-activated protein kinase 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| MECP2methyl-CpG binding protein 2 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | 가끔 (5–29%) | 질환 1개에서 나타남 |
| MMACHCmetabolism of cobalamin associated C | 가끔 (5–29%) | 질환 1개에서 나타남 |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | 가끔 (5–29%) | 질환 1개에서 나타남 |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | 가끔 (5–29%) | 질환 1개에서 나타남 |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | 가끔 (5–29%) | 질환 1개에서 나타남 |
| NAXDNAD(P)HX dehydratase | 가끔 (5–29%) | 질환 1개에서 나타남 |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | 가끔 (5–29%) | 질환 1개에서 나타남 |
| NEXMIFneurite extension and migration factor | 가끔 (5–29%) | 질환 1개에서 나타남 |
| NGLY1N-glycanase 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| NPRL2NPR2 like, GATOR1 complex subunit | 가끔 (5–29%) | 질환 1개에서 나타남 |
| NPRL3NPR3 like, GATOR1 complex subunit | 가끔 (5–29%) | 질환 1개에서 나타남 |
| NTNG1netrin G1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| PI4KAphosphatidylinositol 4-kinase alpha | 가끔 (5–29%) | 질환 1개에서 나타남 |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | 가끔 (5–29%) | 질환 1개에서 나타남 |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | 가끔 (5–29%) | 질환 1개에서 나타남 |
| PNKPpolynucleotide kinase 3'-phosphatase | 가끔 (5–29%) | 질환 1개에서 나타남 |
| POLR1ARNA polymerase I subunit A | 가끔 (5–29%) | 질환 1개에서 나타남 |
| PPIL1peptidylprolyl isomerase like 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | 가끔 (5–29%) | 질환 1개에서 나타남 |
| PRRT2proline rich transmembrane protein 2 | 가끔 (5–29%) | 질환 2개에서 나타남 |
| RHOBTB2Rho related BTB domain containing 2 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| RNF13ring finger protein 13 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| SCN1Bsodium voltage-gated channel beta subunit 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| SCN3Asodium voltage-gated channel alpha subunit 3 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| SLC19A3solute carrier family 19 member 3 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| SLC1A4solute carrier family 1 member 4 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| SLC25A22solute carrier family 25 member 22 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| SLC32A1solute carrier family 32 member 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| SRPX2sushi repeat containing protein X-linked 2 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| STXBP1syntaxin binding protein 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | 가끔 (5–29%) | 질환 1개에서 나타남 |
| TANGO2transport and golgi organization 2 homolog | 가끔 (5–29%) | 질환 1개에서 나타남 |
| TRIM8tripartite motif containing 8 | 가끔 (5–29%) | 질환 2개에서 나타남 |
| TRPM3transient receptor potential cation channel subfamily M member 3 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| TUBA1Atubulin alpha 1a | 가끔 (5–29%) | 질환 2개에서 나타남 |
| TUBA8tubulin alpha 8 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| TUBB2Btubulin beta 2B class IIb | 가끔 (5–29%) | 질환 2개에서 나타남 |
| TUBB3tubulin beta 3 class III | 가끔 (5–29%) | 질환 1개에서 나타남 |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| ZFHX3zinc finger homeobox 3 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| ACBD6acyl-CoA binding domain containing 6 | 드물게 (1–4%) | 질환 1개에서 나타남 |
| ASAH1N-acylsphingosine amidohydrolase 1 | 드물게 (1–4%) | 질환 1개에서 나타남 |
| CHD3chromodomain helicase DNA binding protein 3 | 드물게 (1–4%) | 질환 1개에서 나타남 |
| FBXL4F-box and leucine rich repeat protein 4 | 드물게 (1–4%) | 질환 1개에서 나타남 |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | 드물게 (1–4%) | 질환 1개에서 나타남 |
| SPTBN1spectrin beta, non-erythrocytic 1 | 드물게 (1–4%) | 질환 1개에서 나타남 |
Human Phenotype Ontology가 기록한, 해당 유전자와 관련된 질환을 가진 사람들 가운데 이 특징이 나타나는 빈도입니다. 이 페이지는 특징과 그 바탕이 되는 연구를 설명하며, 진단이 아닙니다. 증상에 대해서는 의사나 유전 상담사에게 문의하시기 바랍니다.
상위 형질
출처
- Human Phenotype Ontology, 버전 2026-09-01: 특징, 명칭, 정의 및 이와 연결된 유전자입니다. 자세한 내용은 hpo.jax.org에서 확인하실 수 있습니다.
- 데이터 버전 2026.10.19-9814e911.
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