Atlas이런 분들을 위해과학적 근거제품연구 성과
로그인질문하기유전체를 시퀀싱하세요↗
형질
Difficulty sleeping
임상 명칭: Sleep disturbance
An abnormal pattern in the quality, quantity, or characteristics of sleep.
요약
- 다른 명칭
- Trouble sleeping, Sleep abnormality, Sleep disturbances, Sleep dysfunction, Sleep-wake disturbance
Atlas이런 분들을 위해과학적 근거제품연구 성과
로그인질문하기유전체를 시퀀싱하세요↗
이 페이지의 데이터
페이지 주소 끝에 .json을 붙이거나 application/json을 요청하면 JSON 형식으로 읽을 수 있습니다.
library(jsonlite)
url <- "https://dantelabs.com/traits/sleep-disturbance.json"
page <- fromJSON(url)
page$trait$nameDifficulty sleepingHP:0002360
Atlas이런 분들을 위해과학적 근거제품연구 성과
로그인질문하기유전체를 시퀀싱하세요↗
Difficulty sleeping과(와) 연결된 유전자와 나머지 게놈을 한 번의 검사로 확인하세요.
$449부터배송비 무료 · 결과는 6~8주 내 제공
내 Genome Test 받기132 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.
- Intellectual DisabilityReads 60 of these genesAHDC1ANK3CHD8DEAF1GRIA1HNRNPCAbout this report →
- Amyotrophic Lateral Sclerosis (ALS)Reads 20 of these genesDCTN1ANGANXA11CCNFCHCHD10CHMP2BAbout this report →
- Epilepsy (Full Panel)Reads 38 of these genesALG13EEF1A2SLC32A1CDKL5GABBR2MECP2About this report →
- Cornelia de Lange SyndromeReads 6 of these genesSMC1ABRD4HDAC8NIPBLRAD21SMC3About this report →
Show 128 more reports
- Inherited Neurodegenerative DisordersReads 46 of these genesHTTVRK1DCTN1PRNPSEPSECSTSEN15About this report →
- Frontotemporal DementiaReads 8 of these genesCCNFCHCHD10CHMP2BHNRNPA1SQSTM1TBK1About this report →
- Mucopolysaccharidosis Type III (Sanfilippo Syndrome)Reads 4 of these genesGNSNAGLUSGSHHGSNATAbout this report →
- Parkinson DiseaseReads 6 of these genesFBXO7SNCAGBA1LRRK2VPS35MAPTAbout this report →
- Spinal Muscular AtrophyReads 8 of these genesVRK1DCTN1SEPSECSTSEN15TSEN2TSEN54About this report →
- BH4 Deficiency & Monoamine Neurotransmitter DisordersReads 5 of these genesSLC18A2DBHDDCGCH1SPRAbout this report →
- Myotonic DystrophyReads 2 of these genesCNBPDMPKAbout this report →
- Tuberous SclerosisReads 2 of these genesTSC1TSC2About this report →
- Wolfram Syndrome & WFS1 SpectrumReads 2 of these genesCISD2WFS1About this report →
- Lysosomal Storage DiseaseReads 10 of these genesGNSNAGLUSGSHIDUAAGAGBA1About this report →
- Usher SyndromeReads 4 of these genesADGRV1MYO7AUSH2AWHRNAbout this report →
- Congenital MyopathiesReads 5 of these genesACTA1MAP3K20SELENONTPM2TPM3About this report →
- Rare Hereditary Peripheral NeuropathiesReads 17 of these genesFDXRLIASVRK1DCTN1NAGLUBSCL2About this report →
- Pontocerebellar Hypoplasia (TSEN54 and MINPP1)Reads 5 of these genesVRK1SEPSECSTSEN15TSEN2TSEN54About this report →
- Syndromic Complex Neurodevelopmental DisorderReads 5 of these genesTFE3ASH1LMYT1LTRA2BRNU4-2About this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 6 of these genesSLC18A2GCH1NR4A2PNKPSPRSLC2A1About this report →
- Hereditary Episodic AtaxiasReads 2 of these genesKCNA1SCN2AAbout this report →
- Acid Sphingomyelinase Deficiency (Niemann-Pick Disease Types A and B)Reads 1 of these genesSMPD1About this report →
- Alexander DiseaseReads 1 of these genesGFAPAbout this report →
- Amyotrophic Lateral Sclerosis Susceptibility 24 (NEK1)Reads 1 of these genesNEK1About this report →
- Birt-Hogg-Dubé SyndromeReads 1 of these genesFLCNAbout this report →
- Canavan DiseaseReads 1 of these genesASPAAbout this report →
- Christianson SyndromeReads 1 of these genesSLC9A6About this report →
- Chung-Jansen Syndrome (PHIP)Reads 1 of these genesPHIPAbout this report →
- CTNNB1 SyndromeReads 1 of these genesCTNNB1About this report →
- DeSanto-Shinawi SyndromeReads 1 of these genesWACAbout this report →
- DHX30-Related Neurodevelopmental DisorderReads 1 of these genesDHX30About this report →
- Dias-Logan SyndromeReads 1 of these genesBCL11AAbout this report →
- EBF3-Related Neurodevelopmental Disorder (HADDS)Reads 1 of these genesEBF3About this report →
- EML1-Related Band HeterotopiaReads 1 of these genesEML1About this report →
- Familial Mediterranean FeverReads 1 of these genesMEFVAbout this report →
- FDXR-Related Mitochondrial DisorderReads 1 of these genesFDXRAbout this report →
- Fragile X SyndromeReads 1 of these genesFMR1About this report →
- Gaucher DiseaseReads 1 of these genesGBA1About this report →
- Genetic Prion Disease (incl. Fatal Familial Insomnia)Reads 1 of these genesPRNPAbout this report →
- GTP Cyclohydrolase 1 DeficiencyReads 1 of these genesGCH1About this report →
- Hao-Fountain SyndromeReads 1 of these genesUSP7About this report →
- HIBCH DeficiencyReads 1 of these genesHIBCHAbout this report →
- Huntington DiseaseReads 1 of these genesHTTAbout this report →
- Hyperekplexia 3 (SLC6A5)Reads 1 of these genesSLC6A5About this report →
- Hyperprolinaemia Type 2Reads 1 of these genesALDH4A1About this report →
- Mowat-Wilson SyndromeReads 1 of these genesZEB2About this report →
- Mucopolysaccharidosis Type I (Hurler and Scheie Syndromes)Reads 1 of these genesIDUAAbout this report →
- Nizon-Isidor SyndromeReads 1 of these genesMED12LAbout this report →
- OPTN-Related Normal-Tension GlaucomaReads 1 of these genesOPTNAbout this report →
- POLR2A-Related Neurodevelopmental DisorderReads 1 of these genesPOLR2AAbout this report →
- Rett Syndrome and MECP2-Related DisordersReads 1 of these genesMECP2About this report →
- RTTN-Related Microcephalic Primordial DwarfismReads 1 of these genesRTTNAbout this report →
- Smith-Lemli-Opitz SyndromeReads 1 of these genesDHCR7About this report →
- SPTBN1-Related Neurodevelopmental DisorderReads 1 of these genesSPTBN1About this report →
- TANC2-Related Neurodevelopmental DisorderReads 1 of these genesTANC2About this report →
- TCF20-Related Neurodevelopmental DisorderReads 1 of these genesTCF20About this report →
- TRIM8-Related Neurodevelopmental and Kidney DisorderReads 1 of these genesTRIM8About this report →
- UNC13A-Related Neurodevelopmental DisordersReads 1 of these genesUNC13AAbout this report →
- Vici SyndromeReads 1 of these genesEPG5About this report →
- Wiedemann-Steiner SyndromeReads 1 of these genesKMT2AAbout this report →
- You-Hoover-Fong Syndrome (TELO2)Reads 1 of these genesTELO2About this report →
- Hypogonadotropic HypogonadismReads 7 of these genesMAGEL2SNRPNFGFR1HESX1OTX2PROKR2About this report →
- Distal MyopathiesReads 4 of these genesHNRNPA1LRP12MATR3VCPAbout this report →
- Charcot-Marie-Tooth DiseaseReads 8 of these genesVRK1DCTN1NAGLUBSCL2AIFM1FIG4About this report →
- Glycogen Storage DiseaseReads 3 of these genesPHKA2PHKG2PYGLAbout this report →
- Age-Related Macular DegenerationReads 1 of these genesMFSD8About this report →
- CitrullinemiaReads 1 of these genesSLC25A13About this report →
- GPI Anchor Biosynthesis DefectsReads 3 of these genesPIGGPIGPPIGQAbout this report →
- Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)Reads 4 of these genesATXN10ATXN2ATXN3TBPAbout this report →
- Imprinting Disorders: Prader-Willi, Silver-Russell and Beckwith-WiedemannReads 2 of these genesMAGEL2SNRPNAbout this report →
- Non-Acquired Combined Pituitary Hormone DeficiencyReads 3 of these genesHESX1OTX2SOX3About this report →
- Coffin-Siris SyndromeReads 2 of these genesSMARCC2BICRAAbout this report →
- HyperthyroidismReads 1 of these genesTSHRAbout this report →
- Leukocyte Adhesion DeficiencyReads 1 of these genesSLC35C1About this report →
- Monogenic Precocious PubertyReads 1 of these genesMKRN3About this report →
- Neuroacanthocytosis and Huntington Disease PhenocopiesReads 1 of these genesVPS13AAbout this report →
- Thyroid Hormone Resistance, Transport & Metabolism DefectsReads 1 of these genesSLC16A2About this report →
- Microphthalmia, Anophthalmia & ColobomaReads 3 of these genesTBC1D20OTX2SOX2About this report →
- Inherited Congenital Heart DefectsReads 2 of these genesELNTFAP2BAbout this report →
- Neuronal Ceroid LipofuscinosisReads 2 of these genesMFSD8PPT1About this report →
- Hearing Loss and DeafnessReads 5 of these genesMYO7APDZD7WHRNAIFM1WFS1About this report →
- 46,XX Differences of Sex DevelopmentReads 1 of these genesSOX3About this report →
- Adult-Onset Leukodystrophies (CSF1R, LMNB1, Nasu-Hakola)Reads 1 of these genesTREM2About this report →
- Familial Paget Disease of BoneReads 1 of these genesSQSTM1About this report →
- Molybdenum Cofactor & Isolated Sulfite Oxidase DeficiencyReads 1 of these genesGPHNAbout this report →
- NeurofibromatosisReads 1 of these genesNF1About this report →
- DNA Repair DiseaseReads 3 of these genesERCC4ERCC6ERCC8About this report →
- Other Inherited LeukodystrophiesReads 4 of these genesASPAGFAPRNU7-1TREM2About this report →
- Congenital HypothyroidismReads 2 of these genesTSHRNKX2-1About this report →
- Alzheimer diseaseReads 1 of these genesTREM2About this report →
- MTOR Pathway Megalencephaly and Overgrowth DisordersReads 1 of these genesPIK3CAAbout this report →
- Lissencephaly Spectrum DisordersReads 2 of these genesARXTBC1D20About this report →
- Syndromic CraniosynostosisReads 2 of these genesKAT6AFGFR1About this report →
- VitreoretinopathyReads 2 of these genesCTNNB1NDPAbout this report →
- Hypertrophic CardiomyopathyReads 3 of these genesBRAFDMPKMYL2About this report →
- Alpha-Mannosidosis and Other GlycoproteinosesReads 1 of these genesAGAAbout this report →
- Congenital Muscular DystrophiesReads 2 of these genesITGA7SELENONAbout this report →
- Hereditary Spastic ParaplegiaReads 3 of these genesBSCL2SPTSSASPARTAbout this report →
- Leigh SyndromeReads 3 of these genesHIBCHAIFM1SUCLG1About this report →
- Aicardi-Goutieres SyndromeReads 1 of these genesRNU7-1About this report →
- GlaucomaReads 1 of these genesOPTNAbout this report →
- Hereditary Rickets (Hypophosphatemic and Vitamin D-Dependent)Reads 1 of these genesPHEXAbout this report →
- Oculocutaneous AlbinismReads 1 of these genesOCA2About this report →
- Autism Spectrum DisorderReads 1 of these genesCHD8About this report →
- Kidney CancerReads 1 of these genesFLCNAbout this report →
- Pyruvate Dehydrogenase & Pyruvate Carboxylase DeficiencyReads 1 of these genesLIASAbout this report →
- Mendelian Susceptibility to Mycobacterial Disease (MSMD)Reads 1 of these genesIL12RB1About this report →
- Neurodegeneration with Brain Iron Accumulation (NBIA)Reads 1 of these genesWDR45About this report →
- Congenital Disorders of GlycosylationReads 3 of these genesALG13PIGGSLC35C1About this report →
- LipodystrophyReads 1 of these genesBSCL2About this report →
- Urea Cycle DisorderReads 1 of these genesSLC25A13About this report →
- Urinary and Renal System TumourReads 1 of these genesFLCNAbout this report →
- Cutis LaxaReads 1 of these genesELNAbout this report →
- Primary Lymphoedema & Lymphatic MalformationsReads 1 of these genesKIF11About this report →
- Fanconi AnemiaReads 1 of these genesERCC4About this report →
- 46,XY Differences of Sex Development and Gonadal DysgenesisReads 1 of these genesATRXAbout this report →
- Hereditary Corneal DystrophiesReads 1 of these genesTCF4About this report →
- Retinitis PigmentosaReads 2 of these genesUSH2AHGSNATAbout this report →
- Neonatal Diabetes MellitusReads 1 of these genesBSCL2About this report →
- Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)Reads 1 of these genesAIFM1About this report →
- Noonan SyndromeReads 1 of these genesBRAFAbout this report →
- Bardet-Biedl and Alström SyndromesReads 1 of these genesALMS1About this report →
- Hereditary Congenital & Juvenile CataractReads 1 of these genesWFS1About this report →
- Inherited IchthyosesReads 1 of these genesNSDHLAbout this report →
- Diabetes MellitusReads 1 of these genesBSCL2About this report →
- Thyroid CancerReads 1 of these genesTSHRAbout this report →
- Limb-Girdle Muscular DystrophyReads 1 of these genesTNPO3About this report →
- Rare Monogenic Autoinflammatory DiseasesReads 1 of these genesRNU7-1About this report →
- Primary Mitochondrial DiseaseReads 2 of these genesAIFM1SUCLG1About this report →
- Female InfertilityReads 1 of these genesFMR1About this report →
- Other Inborn Errors of ImmunityReads 2 of these genesIRF4RNU7-1About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 1 of these genesPNKPAbout this report →
Difficulty sleeping과(와) 연결된 유전자와 나머지 게놈을 한 번의 검사로 확인하세요.
$449부터배송비 무료 · 결과는 6~8주 내 제공
내 Genome Test 받기연관 유전자 343개: Difficulty sleeping
이 유전자들의 변화는 Difficulty sleeping 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 |
|---|---|---|
| ACBD6acyl-CoA binding domain containing 6 | 항상 | 질환 1개에서 나타남 |
| AHDC1AT-hook DNA binding motif containing 1 | 항상 | 질환 1개에서 나타남 |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | 항상 | 질환 1개에서 나타남 |
| ANK3ankyrin 3 | 항상 | 질환 2개에서 나타남 |
| BAIAP2BAR/IMD domain containing adaptor protein 2 | 항상 | 질환 1개에서 나타남 |
| CHD8chromodomain helicase DNA binding protein 8 | 항상 | 질환 2개에서 나타남 |
| DEAF1DEAF1 transcription factor | 항상 | 질환 3개에서 나타남 |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | 항상 | 질환 1개에서 나타남 |
| EMC10ER membrane protein complex subunit 10 | 항상 | 질환 1개에서 나타남 |
| FDXRferredoxin reductase | 항상 | 질환 1개에서 나타남 |
| FRYLFRY like transcription coactivator | 항상 | 질환 1개에서 나타남 |
| GNSglucosamine (N-acetyl)-6-sulfatase | 항상 | 질환 1개에서 나타남 |
| GRIA1glutamate ionotropic receptor AMPA type subunit 1 | 항상 | 질환 2개에서 나타남 |
| HNRNPCheterogeneous nuclear ribonucleoprotein C | 항상 | 질환 1개에서 나타남 |
| HTThuntingtin | 항상 | 질환 1개에서 나타남 |
| JKAMPJNK1/MAPK8 associated membrane protein | 항상 | 질환 1개에서 나타남 |
| LIASlipoic acid synthetase | 항상 | 질환 1개에서 나타남 |
| MED16mediator complex subunit 16 | 항상 | 질환 1개에서 나타남 |
| MED23mediator complex subunit 23 | 항상 | 질환 1개에서 나타남 |
| SATB2SATB homeobox 2 | 항상 | 질환 3개에서 나타남 |
| SLC18A2solute carrier family 18 member A2 | 항상 | 질환 2개에서 나타남 |
| SLC32A1solute carrier family 32 member 1 | 항상 | 질환 2개에서 나타남 |
| TFE3transcription factor binding to IGHM enhancer 3 | 항상 | 질환 1개에서 나타남 |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | 항상 | 질환 1개에서 나타남 |
| UQCC3ubiquinol-cytochrome c reductase complex assembly factor 3 | 항상 | 질환 1개에서 나타남 |
| VPS4Avacuolar protein sorting 4 homolog A | 항상 | 질환 1개에서 나타남 |
| VRK1VRK serine/threonine kinase 1 | 항상 | 질환 1개에서 나타남 |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | 항상 | 질환 1개에서 나타남 |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | 항상 | 질환 1개에서 나타남 |
| ZMYM3zinc finger MYM-type containing 3 | 항상 | 질환 1개에서 나타남 |
| ATP9AATPase phospholipid transporting 9A | 매우 자주 (80–99%) | 질환 1개에서 나타남 |
| CDKL5cyclin dependent kinase like 5 | 매우 자주 (80–99%) | 질환 2개에서 나타남 |
| CTSHcathepsin H | 매우 자주 (80–99%) | 질환 1개에서 나타남 |
| DCTN1dynactin subunit 1 | 매우 자주 (80–99%) | 질환 3개에서 나타남 |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | 매우 자주 (80–99%) | 질환 2개에서 나타남 |
| HCRThypocretin neuropeptide precursor | 매우 자주 (80–99%) | 질환 2개에서 나타남 |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | 매우 자주 (80–99%) | 질환 2개에서 나타남 |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | 매우 자주 (80–99%) | 질환 2개에서 나타남 |
| MECP2methyl-CpG binding protein 2 | 매우 자주 (80–99%) | 질환 5개에서 나타남 |
| MOGmyelin oligodendrocyte glycoprotein | 매우 자주 (80–99%) | 질환 1개에서 나타남 |
유전자 303개 더 보기
| 유전자 | 나타나는 빈도 | 질환 |
|---|---|---|
| NAGLUN-acetyl-alpha-glucosaminidase | 매우 자주 (80–99%) | 질환 2개에서 나타남 |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | 매우 자주 (80–99%) | 질환 2개에서 나타남 |
| NTNG1netrin G1 | 매우 자주 (80–99%) | 질환 1개에서 나타남 |
| P2RY11purinergic receptor P2Y11 | 매우 자주 (80–99%) | 질환 1개에서 나타남 |
| PRNPprion protein (Kanno blood group) | 매우 자주 (80–99%) | 질환 2개에서 나타남 |
| RAI1retinoic acid induced 1 | 매우 자주 (80–99%) | 질환 4개에서 나타남 |
| RNU2-2RNA, U2 small nuclear 2 | 매우 자주 (80–99%) | 질환 1개에서 나타남 |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | 매우 자주 (80–99%) | 질환 2개에서 나타남 |
| SGSHN-sulfoglucosamine sulfohydrolase | 매우 자주 (80–99%) | 질환 1개에서 나타남 |
| SMC1Astructural maintenance of chromosomes 1A | 매우 자주 (80–99%) | 질환 2개에서 나타남 |
| TCF4transcription factor 4 | 매우 자주 (80–99%) | 질환 1개에서 나타남 |
| TNFSF4TNF superfamily member 4 | 매우 자주 (80–99%) | 질환 1개에서 나타남 |
| TSEN15tRNA splicing endonuclease subunit 15 | 매우 자주 (80–99%) | 질환 1개에서 나타남 |
| TSEN2tRNA splicing endonuclease subunit 2 | 매우 자주 (80–99%) | 질환 1개에서 나타남 |
| TSEN34tRNA splicing endonuclease subunit 34 | 매우 자주 (80–99%) | 질환 1개에서 나타남 |
| TSEN54tRNA splicing endonuclease subunit 54 | 매우 자주 (80–99%) | 질환 1개에서 나타남 |
| ZNF365zinc finger protein 365 | 매우 자주 (80–99%) | 질환 2개에서 나타남 |
| ADGRL1adhesion G protein-coupled receptor L1 | 자주 (30–79%) | 질환 1개에서 나타남 |
| ADGRV1adhesion G protein-coupled receptor V1 | 자주 (30–79%) | 질환 1개에서 나타남 |
| AGO1argonaute RISC component 1 | 자주 (30–79%) | 질환 1개에서 나타남 |
| ALDH4A1aldehyde dehydrogenase 4 family member A1 | 자주 (30–79%) | 질환 1개에서 나타남 |
| ARXaristaless related homeobox | 자주 (30–79%) | 질환 1개에서 나타남 |
| ASH1LASH1 like histone lysine methyltransferase | 자주 (30–79%) | 질환 1개에서 나타남 |
| ASPAaspartoacylase | 자주 (30–79%) | 질환 1개에서 나타남 |
| ASXL1ASXL transcriptional regulator 1 | 자주 (30–79%) | 질환 1개에서 나타남 |
| ATAD1ATPase family AAA domain containing 1 | 자주 (30–79%) | 질환 1개에서 나타남 |
| ATRXATRX chromatin remodeler | 자주 (30–79%) | 질환 1개에서 나타남 |
| BCL11ABCL11 transcription factor A | 자주 (30–79%) | 질환 1개에서 나타남 |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | 자주 (30–79%) | 질환 1개에서 나타남 |
| BRD4bromodomain containing 4 | 자주 (30–79%) | 질환 1개에서 나타남 |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | 자주 (30–79%) | 질환 1개에서 나타남 |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | 자주 (30–79%) | 질환 1개에서 나타남 |
| CASKcalcium/calmodulin dependent serine protein kinase | 자주 (30–79%) | 질환 2개에서 나타남 |
| CD4CD4 molecule | 자주 (30–79%) | 질환 1개에서 나타남 |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | 자주 (30–79%) | 질환 1개에서 나타남 |
| CPLX1complexin 1 | 자주 (30–79%) | 질환 1개에서 나타남 |
| CSNK2A1casein kinase 2 alpha 1 | 자주 (30–79%) | 질환 1개에서 나타남 |
| CTBP1C-terminal binding protein 1 | 자주 (30–79%) | 질환 1개에서 나타남 |
| CTNNB1catenin beta 1 | 자주 (30–79%) | 질환 2개에서 나타남 |
| DBHdopamine beta-hydroxylase | 자주 (30–79%) | 질환 1개에서 나타남 |
| DDCdopa decarboxylase | 자주 (30–79%) | 질환 2개에서 나타남 |
| DHCR77-dehydrocholesterol reductase | 자주 (30–79%) | 질환 1개에서 나타남 |
| DHX30DExH-box helicase 30 | 자주 (30–79%) | 질환 1개에서 나타남 |
| DMXL2Dmx like 2 | 자주 (30–79%) | 질환 1개에서 나타남 |
| EHMT1euchromatic histone lysine methyltransferase 1 | 자주 (30–79%) | 질환 2개에서 나타남 |
| FBXO11F-box protein 11 | 자주 (30–79%) | 질환 1개에서 나타남 |
| FBXO7F-box protein 7 | 자주 (30–79%) | 질환 1개에서 나타남 |
| FMR1fragile X messenger ribonucleoprotein 1 | 자주 (30–79%) | 질환 1개에서 나타남 |
| FOXG1forkhead box G1 | 자주 (30–79%) | 질환 1개에서 나타남 |
| FRA10AC1FRA10A associated CGG repeat 1 | 자주 (30–79%) | 질환 1개에서 나타남 |
| GABBR1gamma-aminobutyric acid type B receptor subunit 1 | 자주 (30–79%) | 질환 1개에서 나타남 |
| GCH1GTP cyclohydrolase 1 | 자주 (30–79%) | 질환 1개에서 나타남 |
| GLRA1glycine receptor alpha 1 | 자주 (30–79%) | 질환 1개에서 나타남 |
| GLRBglycine receptor beta | 자주 (30–79%) | 질환 1개에서 나타남 |
| GNAO1G protein subunit alpha o1 | 자주 (30–79%) | 질환 1개에서 나타남 |
| GPHNgephyrin | 자주 (30–79%) | 질환 1개에서 나타남 |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | 자주 (30–79%) | 질환 2개에서 나타남 |
| GRM7glutamate metabotropic receptor 7 | 자주 (30–79%) | 질환 1개에서 나타남 |
| HDAC4histone deacetylase 4 | 자주 (30–79%) | 질환 3개에서 나타남 |
| HDAC8histone deacetylase 8 | 자주 (30–79%) | 질환 1개에서 나타남 |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | 자주 (30–79%) | 질환 1개에서 나타남 |
| HIBCH3-hydroxyisobutyryl-CoA hydrolase | 자주 (30–79%) | 질환 1개에서 나타남 |
| IDUAalpha-L-iduronidase | 자주 (30–79%) | 질환 1개에서 나타남 |
| IFNGinterferon gamma | 자주 (30–79%) | 질환 1개에서 나타남 |
| IMPDH2inosine monophosphate dehydrogenase 2 | 자주 (30–79%) | 질환 1개에서 나타남 |
| IRF4interferon regulatory factor 4 | 자주 (30–79%) | 질환 1개에서 나타남 |
| KAT5lysine acetyltransferase 5 | 자주 (30–79%) | 질환 1개에서 나타남 |
| KAT6Alysine acetyltransferase 6A | 자주 (30–79%) | 질환 1개에서 나타남 |
| KCNA1potassium voltage-gated channel subfamily A member 1 | 자주 (30–79%) | 질환 1개에서 나타남 |
| KMT2Alysine methyltransferase 2A | 자주 (30–79%) | 질환 1개에서 나타남 |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | 자주 (30–79%) | 질환 1개에서 나타남 |
| LGI1leucine rich glioma inactivated 1 | 자주 (30–79%) | 질환 1개에서 나타남 |
| MAGEL2MAGE family member L2 | 자주 (30–79%) | 질환 4개에서 나타남 |
| MAU2MAU2 sister chromatid cohesion factor | 자주 (30–79%) | 질환 1개에서 나타남 |
| MBD5methyl-CpG binding domain protein 5 | 자주 (30–79%) | 질환 1개에서 나타남 |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | 자주 (30–79%) | 질환 1개에서 나타남 |
| MED12Lmediator complex subunit 12L | 자주 (30–79%) | 질환 1개에서 나타남 |
| MEFVMEFV innate immunity regulator, pyrin | 자주 (30–79%) | 질환 1개에서 나타남 |
| MKRN3makorin ring finger protein 3 | 자주 (30–79%) | 질환 1개에서 나타남 |
| MYO7Amyosin VIIA | 자주 (30–79%) | 질환 1개에서 나타남 |
| MYT1Lmyelin transcription factor 1 like | 자주 (30–79%) | 질환 1개에서 나타남 |
| NACC1nucleus accumbens associated 1 | 자주 (30–79%) | 질환 2개에서 나타남 |
| NDNnecdin, MAGE family member | 자주 (30–79%) | 질환 3개에서 나타남 |
| NDST1N-deacetylase and N-sulfotransferase 1 | 자주 (30–79%) | 질환 1개에서 나타남 |
| NELFAnegative elongation factor complex member A | 자주 (30–79%) | 질환 1개에서 나타남 |
| NEUROD2neuronal differentiation 2 | 자주 (30–79%) | 질환 1개에서 나타남 |
| NF1neurofibromin 1 | 자주 (30–79%) | 질환 1개에서 나타남 |
| NIPBLNIPBL cohesin loading factor | 자주 (30–79%) | 질환 1개에서 나타남 |
| NPAP1nuclear pore associated protein 1 | 자주 (30–79%) | 질환 1개에서 나타남 |
| NR4A2nuclear receptor subfamily 4 group A member 2 | 자주 (30–79%) | 질환 2개에서 나타남 |
| NSD2nuclear receptor binding SET domain protein 2 | 자주 (30–79%) | 질환 1개에서 나타남 |
| NSUN6NOP2/Sun RNA methyltransferase 6 | 자주 (30–79%) | 질환 1개에서 나타남 |
| OCA2OCA2 melanosomal transmembrane protein | 자주 (30–79%) | 질환 3개에서 나타남 |
| P4HTMprolyl 4-hydroxylase, transmembrane | 자주 (30–79%) | 질환 1개에서 나타남 |
| PDZD7PDZ domain containing 7 | 자주 (30–79%) | 질환 1개에서 나타남 |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | 자주 (30–79%) | 질환 1개에서 나타남 |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | 자주 (30–79%) | 질환 1개에서 나타남 |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | 자주 (30–79%) | 질환 1개에서 나타남 |
| PNKPpolynucleotide kinase 3'-phosphatase | 자주 (30–79%) | 질환 1개에서 나타남 |
| POGZpogo transposable element derived with ZNF domain | 자주 (30–79%) | 질환 2개에서 나타남 |
| POLR2ARNA polymerase II subunit A | 자주 (30–79%) | 질환 1개에서 나타남 |
| POU3F3POU class 3 homeobox 3 | 자주 (30–79%) | 질환 1개에서 나타남 |
| PWAR1Prader Willi/Angelman region RNA 1 | 자주 (30–79%) | 질환 1개에서 나타남 |
| PWRN1Prader-Willi region non-protein coding RNA 1 | 자주 (30–79%) | 질환 1개에서 나타남 |
| RAD21RAD21 cohesin complex component | 자주 (30–79%) | 질환 1개에서 나타남 |
| RFX7regulatory factor X7 | 자주 (30–79%) | 질환 1개에서 나타남 |
| RHOBTB2Rho related BTB domain containing 2 | 자주 (30–79%) | 질환 1개에서 나타남 |
| RIC1RIC1 partner of RAB6A GEF complex | 자주 (30–79%) | 질환 1개에서 나타남 |
| RNU5B-1RNA, U5B small nuclear 1 | 자주 (30–79%) | 질환 1개에서 나타남 |
| SATB1SATB homeobox 1 | 자주 (30–79%) | 질환 2개에서 나타남 |
| SCN1Bsodium voltage-gated channel beta subunit 1 | 자주 (30–79%) | 질환 1개에서 나타남 |
| SCN2Asodium voltage-gated channel alpha subunit 2 | 자주 (30–79%) | 질환 1개에서 나타남 |
| SETD1ASET domain containing 1A, histone lysine methyltransferase | 자주 (30–79%) | 질환 1개에서 나타남 |
| SIK1salt inducible kinase 1 | 자주 (30–79%) | 질환 1개에서 나타남 |
| SLC16A2solute carrier family 16 member 2 | 자주 (30–79%) | 질환 1개에서 나타남 |
| SLC25A13solute carrier family 25 member 13 | 자주 (30–79%) | 질환 1개에서 나타남 |
| SLC25A22solute carrier family 25 member 22 | 자주 (30–79%) | 질환 1개에서 나타남 |
| SLC35C1solute carrier family 35 member C1 | 자주 (30–79%) | 질환 1개에서 나타남 |
| SLC6A5solute carrier family 6 member 5 | 자주 (30–79%) | 질환 1개에서 나타남 |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | 자주 (30–79%) | 질환 1개에서 나타남 |
| SMC3structural maintenance of chromosomes 3 | 자주 (30–79%) | 질환 1개에서 나타남 |
| SNCAsynuclein alpha | 자주 (30–79%) | 질환 3개에서 나타남 |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | 자주 (30–79%) | 질환 1개에서 나타남 |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | 자주 (30–79%) | 질환 1개에서 나타남 |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | 자주 (30–79%) | 질환 3개에서 나타남 |
| SPRsepiapterin reductase | 자주 (30–79%) | 질환 2개에서 나타남 |
| SPTBN1spectrin beta, non-erythrocytic 1 | 자주 (30–79%) | 질환 1개에서 나타남 |
| SPTSSAserine palmitoyltransferase small subunit A | 자주 (30–79%) | 질환 1개에서 나타남 |
| STAG2STAG2 cohesin complex component | 자주 (30–79%) | 질환 1개에서 나타남 |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | 자주 (30–79%) | 질환 2개에서 나타남 |
| SYNGAP1synaptic Ras GTPase activating protein 1 | 자주 (30–79%) | 질환 1개에서 나타남 |
| SYT1synaptotagmin 1 | 자주 (30–79%) | 질환 1개에서 나타남 |
| TANC2tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 | 자주 (30–79%) | 질환 1개에서 나타남 |
| TBC1D20TBC1 domain family member 20 | 자주 (30–79%) | 질환 1개에서 나타남 |
| TELO2telomere maintenance 2 | 자주 (30–79%) | 질환 1개에서 나타남 |
| TRA2Btransformer 2 beta homolog | 자주 (30–79%) | 질환 1개에서 나타남 |
| TRIM8tripartite motif containing 8 | 자주 (30–79%) | 질환 1개에서 나타남 |
| TSC1TSC complex subunit 1 | 자주 (30–79%) | 질환 1개에서 나타남 |
| TSC2TSC complex subunit 2 | 자주 (30–79%) | 질환 1개에서 나타남 |
| TSHRthyroid stimulating hormone receptor | 자주 (30–79%) | 질환 2개에서 나타남 |
| TTI2TELO2 interacting protein 2 | 자주 (30–79%) | 질환 2개에서 나타남 |
| UBE3Cubiquitin protein ligase E3C | 자주 (30–79%) | 질환 1개에서 나타남 |
| USH2Ausherin | 자주 (30–79%) | 질환 1개에서 나타남 |
| WACWW domain containing adaptor with coiled-coil | 자주 (30–79%) | 질환 3개에서 나타남 |
| WDR45WD repeat domain 45 | 자주 (30–79%) | 질환 1개에서 나타남 |
| WDR73WD repeat domain 73 | 자주 (30–79%) | 질환 1개에서 나타남 |
| WHRNwhirlin | 자주 (30–79%) | 질환 1개에서 나타남 |
| ZEB2zinc finger E-box binding homeobox 2 | 자주 (30–79%) | 질환 2개에서 나타남 |
| ACTA1actin alpha 1, skeletal muscle | 가끔 (5–29%) | 질환 1개에서 나타남 |
| ADNPactivity dependent neuroprotector homeobox | 가끔 (5–29%) | 질환 1개에서 나타남 |
| AGAaspartylglucosaminidase | 가끔 (5–29%) | 질환 1개에서 나타남 |
| AIFM1apoptosis inducing factor mitochondria associated 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| ANGangiogenin | 가끔 (5–29%) | 질환 1개에서 나타남 |
| ANXA11annexin A11 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| AP3B2adaptor related protein complex 3 subunit beta 2 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| ARNT2aryl hydrocarbon receptor nuclear translocator 2 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| ASXL3ASXL transcriptional regulator 3 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| ATAD3AATPase family AAA domain containing 3A | 가끔 (5–29%) | 질환 1개에서 나타남 |
| ATXN10ataxin 10 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| ATXN2ataxin 2 | 가끔 (5–29%) | 질환 2개에서 나타남 |
| ATXN3ataxin 3 | 가끔 (5–29%) | 질환 4개에서 나타남 |
| BICRABRD4 interacting chromatin remodeling complex associated protein | 가끔 (5–29%) | 질환 1개에서 나타남 |
| CACHD1cache domain containing 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | 가끔 (5–29%) | 질환 1개에서 나타남 |
| CARS1cysteinyl-tRNA synthetase 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| CCNFcyclin F | 가끔 (5–29%) | 질환 1개에서 나타남 |
| CFAP410cilia and flagella associated protein 410 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| CHKAcholine kinase alpha | 가끔 (5–29%) | 질환 1개에서 나타남 |
| CHMP2Bcharged multivesicular body protein 2B | 가끔 (5–29%) | 질환 1개에서 나타남 |
| CICcapicua transcriptional repressor | 가끔 (5–29%) | 질환 1개에서 나타남 |
| CISD2CDGSH iron sulfur domain 2 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| CNBPCCHC-type zinc finger nucleic acid binding protein | 가끔 (5–29%) | 질환 1개에서 나타남 |
| CTCFCCCTC-binding factor | 가끔 (5–29%) | 질환 2개에서 나타남 |
| DAOD-amino acid oxidase | 가끔 (5–29%) | 질환 1개에서 나타남 |
| DMPKDM1 protein kinase | 가끔 (5–29%) | 질환 1개에서 나타남 |
| DNAJC13DnaJ heat shock protein family (Hsp40) member C13 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| DPH5diphthamide biosynthesis 5 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | 가끔 (5–29%) | 질환 1개에서 나타남 |
| EBF3EBF transcription factor 3 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| EIF3Feukaryotic translation initiation factor 3 subunit F | 가끔 (5–29%) | 질환 1개에서 나타남 |
| EIF4G1eukaryotic translation initiation factor 4 gamma 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| ELNelastin | 가끔 (5–29%) | 질환 1개에서 나타남 |
| EPG5ectopic P-granules 5 autophagy tethering factor | 가끔 (5–29%) | 질환 1개에서 나타남 |
| EPM2AEPM2A glucan phosphatase, laforin | 가끔 (5–29%) | 질환 1개에서 나타남 |
| ERBB4erb-b2 receptor tyrosine kinase 4 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | 가끔 (5–29%) | 질환 1개에서 나타남 |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | 가끔 (5–29%) | 질환 1개에서 나타남 |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | 가끔 (5–29%) | 질환 1개에서 나타남 |
| FGFR1fibroblast growth factor receptor 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| FIG4FIG4 phosphoinositide 5-phosphatase | 가끔 (5–29%) | 질환 1개에서 나타남 |
| FUSFUS RNA binding protein | 가끔 (5–29%) | 질환 1개에서 나타남 |
| GABRB3gamma-aminobutyric acid type A receptor subunit beta3 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| GATAD2BGATA zinc finger domain containing 2B | 가끔 (5–29%) | 질환 1개에서 나타남 |
| GBA1glucosylceramidase beta 1 | 가끔 (5–29%) | 질환 2개에서 나타남 |
| GFAPglial fibrillary acidic protein | 가끔 (5–29%) | 질환 1개에서 나타남 |
| GIGYF2GRB10 interacting GYF protein 2 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| GLE1GLE1 RNA export mediator | 가끔 (5–29%) | 질환 1개에서 나타남 |
| GLT8D1glycosyltransferase 8 domain containing 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| GNAQG protein subunit alpha q | 가끔 (5–29%) | 질환 1개에서 나타남 |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | 가끔 (5–29%) | 질환 1개에서 나타남 |
| H4C5H4 clustered histone 5 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| HACD13-hydroxyacyl-CoA dehydratase 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| HESX1HESX homeobox 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | 가끔 (5–29%) | 질환 1개에서 나타남 |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| IL12Ainterleukin 12A | 가끔 (5–29%) | 질환 1개에서 나타남 |
| IL12RB1interleukin 12 receptor subunit beta 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| IRF5interferon regulatory factor 5 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| ITGA7integrin subunit alpha 7 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| KDM6Blysine demethylase 6B | 가끔 (5–29%) | 질환 1개에서 나타남 |
| KICS2KICSTOR subunit 2 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| KIF11kinesin family member 11 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| LARP7La ribonucleoprotein 7, transcriptional regulator | 가끔 (5–29%) | 질환 1개에서 나타남 |
| LRP12LDL receptor related protein 12 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| LRRC7leucine rich repeat containing 7 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| LRRK2leucine rich repeat kinase 2 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| MARK2microtubule affinity regulating kinase 2 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| MATR3matrin 3 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| MLXIPLMLX interacting protein like | 가끔 (5–29%) | 질환 1개에서 나타남 |
| MMEL1membrane metalloendopeptidase like 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| MYL2myosin light chain 2 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| NDPnorrin cystine knot growth factor NDP | 가끔 (5–29%) | 질환 1개에서 나타남 |
| NEFHneurofilament heavy chain | 가끔 (5–29%) | 질환 1개에서 나타남 |
| NEK1NIMA related kinase 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| NHLRC1NHL repeat containing E3 ubiquitin protein ligase 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| NKX2-1NK2 homeobox 1 | 가끔 (5–29%) | 질환 2개에서 나타남 |
| OPTNoptineurin | 가끔 (5–29%) | 질환 1개에서 나타남 |
| OTX2orthodenticle homeobox 2 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| PFN1profilin 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| PHEXphosphate regulating endopeptidase X-linked | 가끔 (5–29%) | 질환 1개에서 나타남 |
| PHIPPHIP subunit of CUL4-Ring ligase complex | 가끔 (5–29%) | 질환 1개에서 나타남 |
| PHKA2phosphorylase kinase regulatory subunit alpha 2 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| PHKG2phosphorylase kinase catalytic subunit gamma 2 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| PIDD1p53-induced death domain protein 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | 가끔 (5–29%) | 질환 1개에서 나타남 |
| POU2AF1POU class 2 homeobox associating factor 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| PROKR2prokineticin receptor 2 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| PRPHperipherin | 가끔 (5–29%) | 질환 1개에서 나타남 |
| PUF60poly(U) binding splicing factor 60 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| PYGLglycogen phosphorylase L | 가끔 (5–29%) | 질환 1개에서 나타남 |
| RAC1Rac family small GTPase 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| RNU4-2RNA, U4 small nuclear 2 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| RNU7-1RNA, U7 small nuclear 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| RTTNrotatin | 가끔 (5–29%) | 질환 1개에서 나타남 |
| SARDHsarcosine dehydrogenase | 가끔 (5–29%) | 질환 1개에서 나타남 |
| SELENONselenoprotein N | 가끔 (5–29%) | 질환 1개에서 나타남 |
| SEPTIN9septin 9 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| SETBP1SET binding protein 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| SLC2A1solute carrier family 2 member 1 | 가끔 (5–29%) | 질환 2개에서 나타남 |
| SLC9A6solute carrier family 9 member A6 | 가끔 (5–29%) | 질환 2개에서 나타남 |
| SMPD1sphingomyelin phosphodiesterase 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| SOD1superoxide dismutase 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| SOX2SRY-box transcription factor 2 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| SOX3SRY-box transcription factor 3 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| SPARTspartin | 가끔 (5–29%) | 질환 1개에서 나타남 |
| SPIBSpi-B transcription factor | 가끔 (5–29%) | 질환 1개에서 나타남 |
| SQSTM1sequestosome 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | 가끔 (5–29%) | 질환 1개에서 나타남 |
| TAF15TATA-box binding protein associated factor 15 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| TARDBPTAR DNA binding protein | 가끔 (5–29%) | 질환 1개에서 나타남 |
| TBK1TANK binding kinase 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| TFAP2Btranscription factor AP-2 beta | 가끔 (5–29%) | 질환 1개에서 나타남 |
| TNFSF15TNF superfamily member 15 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| TNPO3transportin 3 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| TNRC6Btrinucleotide repeat containing adaptor 6B | 가끔 (5–29%) | 질환 1개에서 나타남 |
| TPM2tropomyosin 2 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| TPM3tropomyosin 3 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| TREM2triggering receptor expressed on myeloid cells 2 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| TRIOtrio Rho guanine nucleotide exchange factor | 가끔 (5–29%) | 질환 1개에서 나타남 |
| TTC5tetratricopeptide repeat domain 5 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| UBQLN2ubiquilin 2 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| UNC13Aunc-13 homolog A | 가끔 (5–29%) | 질환 1개에서 나타남 |
| USP7ubiquitin specific peptidase 7 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| VAPBVAMP associated protein B and C | 가끔 (5–29%) | 질환 1개에서 나타남 |
| VCPvalosin containing protein | 가끔 (5–29%) | 질환 1개에서 나타남 |
| VPS35VPS35 retromer complex component | 가끔 (5–29%) | 질환 1개에서 나타남 |
| WFS1wolframin ER transmembrane glycoprotein | 가끔 (5–29%) | 질환 1개에서 나타남 |
| YY1YY1 transcription factor | 가끔 (5–29%) | 질환 1개에서 나타남 |
| ALMS1ALMS1 centrosome and basal body associated protein | 드물게 (1–4%) | 질환 1개에서 나타남 |
| CORINcorin, serine peptidase | 드물게 (1–4%) | 질환 1개에서 나타남 |
| FLT1fms related receptor tyrosine kinase 1 | 드물게 (1–4%) | 질환 1개에서 나타남 |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | 드물게 (1–4%) | 질환 1개에서 나타남 |
| STOX1storkhead box 1 | 드물게 (1–4%) | 질환 1개에서 나타남 |
| VPS13Avacuolar protein sorting 13 homolog A | 드물게 (1–4%) | 질환 1개에서 나타남 |
| ADH1Calcohol dehydrogenase 1C (class I), gamma polypeptide | 기록되지 않음 | 질환 1개에서 나타남 |
| ATXN8OSATXN8 opposite strand lncRNA | 기록되지 않음 | 질환 1개에서 나타남 |
| EML1EMAP like 1 | 기록되지 않음 | 질환 1개에서 나타남 |
| FLCNfolliculin | 기록되지 않음 | 질환 1개에서 나타남 |
| HDChistidine decarboxylase | 기록되지 않음 | 질환 1개에서 나타남 |
| MAPTmicrotubule associated protein tau | 기록되지 않음 | 질환 1개에서 나타남 |
| MFSD8major facilitator superfamily domain containing 8 | 기록되지 않음 | 질환 1개에서 나타남 |
| MT-TTmitochondrially encoded tRNA-Thr (ACN) | 기록되지 않음 | 질환 1개에서 나타남 |
| PPT1palmitoyl-protein thioesterase 1 | 기록되지 않음 | 질환 1개에서 나타남 |
| SIN3ASIN3 transcription regulator family member A | 기록되지 않음 | 질환 1개에서 나타남 |
| SLITRK1SLIT and NTRK like family member 1 | 기록되지 않음 | 질환 1개에서 나타남 |
| SNCAIPsynuclein alpha interacting protein | 기록되지 않음 | 질환 1개에서 나타남 |
| TBPTATA-box binding protein | 기록되지 않음 | 질환 1개에서 나타남 |
| TCF20transcription factor 20 | 기록되지 않음 | 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.
하위 형질
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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