Atlas이런 분들을 위해과학적 근거제품연구 성과
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형질
Curvature of digit
임상 명칭: Clinodactyly
An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).
요약
- 다른 명칭
- Permanent curving of the finger
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/clinodactyly.json"
page <- fromJSON(url)
page$trait$nameCurvature of digitHP:0030084
Atlas이런 분들을 위해과학적 근거제품연구 성과
로그인질문하기유전체를 시퀀싱하세요↗
110 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.
- Coffin-Siris SyndromeReads 11 of these genesARID2SOX11ARID1AARID1BDPF2SMARCA4About this report →
- Intellectual DisabilityReads 27 of these genesKDM6BNAA10OGTPIGLAHDC1ARID1AAbout this report →
- Rhabdoid Tumour and SWI/SNF Tumour PredispositionReads 3 of these genesSMARCA4SMARCB1SMARCE1About this report →
- GPI Anchor Biosynthesis DefectsReads 7 of these genesPIGLPGAP2PGAP3PIGOPIGVPIGWAbout this report →
Show 106 more reports
- Syndromic CraniosynostosisReads 7 of these genesFGFR1FGFR2FGFR3IL11RAPORIFT122About this report →
- Congenital Disorders of GlycosylationReads 12 of these genesCHSY1PIGLDPAGT1PGAP2PGAP3PIGOAbout this report →
- Monogenic Precocious PubertyReads 2 of these genesDLK1MKRN3About this report →
- Noonan SyndromeReads 5 of these genesMAPK1SPRED2BRAFMAP2K1PTPN11About this report →
- Epiphyseal and Spondyloepiphyseal DysplasiasReads 3 of these genesCOL2A1XYLT1FN1About this report →
- Overgrowth Syndromes (Sotos, Weaver, Tatton-Brown-Rahman, Malan)Reads 2 of these genesNFIXEZH2About this report →
- Alkuraya-Kucinskas SyndromeReads 1 of these genesBLTP1About this report →
- Bent Bone Dysplasia Syndrome (FGFR2)Reads 1 of these genesFGFR2About this report →
- EBF3-Related Neurodevelopmental Disorder (HADDS)Reads 1 of these genesEBF3About this report →
- FAT4-Related Neurodevelopmental DisorderReads 1 of these genesFAT4About this report →
- FGFR3-Related Chondrodysplasias (Achondroplasia and Related Conditions)Reads 1 of these genesFGFR3About this report →
- Floating-Harbor SyndromeReads 1 of these genesSRCAPAbout this report →
- FrontorhinyReads 1 of these genesALX3About this report →
- H SyndromeReads 1 of these genesSLC29A3About this report →
- Hand-Foot-Genital SyndromeReads 1 of these genesHOXA13About this report →
- INTU-Related Skeletal CiliopathyReads 1 of these genesINTUAbout this report →
- ITCH DeficiencyReads 1 of these genesITCHAbout this report →
- Lamb-Shaffer SyndromeReads 1 of these genesSOX5About this report →
- Marshall-Smith SyndromeReads 1 of these genesNFIXAbout this report →
- NOG-Related Symphalangism Spectrum DisorderReads 1 of these genesNOGAbout this report →
- OFD1-Related CiliopathyReads 1 of these genesOFD1About this report →
- Otofaciocervical Syndrome Type 2 (PAX1)Reads 1 of these genesPAX1About this report →
- Phenylketonuria (PKU)Reads 1 of these genesPAHAbout this report →
- PIK3R1-Related DisordersReads 1 of these genesPIK3R1About this report →
- POLR3A-Related DisorderReads 1 of these genesPOLR3AAbout this report →
- Primary Failure of Tooth EruptionReads 1 of these genesPTH1RAbout this report →
- Roberts SyndromeReads 1 of these genesESCO2About this report →
- Sandestig-Stefanova SyndromeReads 1 of these genesNUP188About this report →
- SCN4A-Related Congenital MyopathyReads 1 of these genesSCN4AAbout this report →
- SF3B4-Related Acrofacial Dysostosis (Nager Syndrome)Reads 1 of these genesSF3B4About this report →
- Short-Rib Thoracic Dysplasia 7 (WDR35)Reads 1 of these genesWDR35About this report →
- TARP SyndromeReads 1 of these genesRBM10About this report →
- TRPV4-Related Skeletal DysplasiasReads 1 of these genesTRPV4About this report →
- Turnpenny-Fry SyndromeReads 1 of these genesPCGF2About this report →
- Wiedemann-Steiner SyndromeReads 1 of these genesKMT2AAbout this report →
- You-Hoover-Fong Syndrome (TELO2)Reads 1 of these genesTELO2About this report →
- Joubert Syndrome And Related DisordersReads 6 of these genesINPP5EKIF7OFD1CPLANE1MKS1TCTN3About this report →
- Mosaic Variegated Aneuploidy SyndromeReads 2 of these genesCEP57SMC5About this report →
- Periventricular Nodular HeterotopiaReads 2 of these genesFLNAMAP1BAbout this report →
- Syndromic Complex Neurodevelopmental DisorderReads 4 of these genesPAN2TRAF7ZFXTBCKAbout this report →
- Cornelia de Lange SyndromeReads 2 of these genesSMC1ANIPBLAbout this report →
- Growth Hormone Insensitivity & IGF-1 Axis DisordersReads 2 of these genesIGF1IGF1RAbout this report →
- Ellis-van Creveld Syndrome and Cranioectodermal DysplasiaReads 2 of these genesIFT122WDR35About this report →
- Activated PI3K-Delta Syndrome (APDS)Reads 1 of these genesPIK3R1About this report →
- Fibrodysplasia Ossificans ProgressivaReads 1 of these genesACVR1About this report →
- Hereditary Breast and Ovarian Cancer (BRCA1/2)Reads 1 of these genesBRCA1About this report →
- Hereditary Diffuse Gastric CancerReads 1 of these genesCDH1About this report →
- Kabuki SyndromeReads 1 of these genesKMT2DAbout this report →
- Otospondylomegaepiphyseal Dysplasia (OSMED)Reads 1 of these genesCOL2A1About this report →
- Imprinting Disorders: Prader-Willi, Silver-Russell and Beckwith-WiedemannReads 2 of these genesSNRPNMAGEL2About this report →
- Hypertrophic CardiomyopathyReads 5 of these genesMAPK1SPRED2BRAFMAP2K1PTPN11About this report →
- Familial Periodic ParalysisReads 1 of these genesSCN4AAbout this report →
- Hypogonadotropic HypogonadismReads 4 of these genesFGFR1SNRPNMAGEL2NSMFAbout this report →
- Achondrogenesis panelReads 1 of these genesCOL2A1About this report →
- Complex Neurodevelopmental Disorder (TRRAP, MYH10, RERE, SOX11)Reads 1 of these genesSOX11About this report →
- Multiple Synostoses Syndrome (FGF9)Reads 1 of these genesNOGAbout this report →
- NeurofibromatosisReads 1 of these genesSMARCB1About this report →
- Inherited Neurodegenerative DisordersReads 9 of these genesFIG4FLVCR1PUM1CACNA1GPOLR3ASNX14About this report →
- Bardet-Biedl and Alström SyndromesReads 2 of these genesBBS7MKS1About this report →
- Hereditary Visceral Myopathy, CIPO & MMIHSReads 1 of these genesFLNAAbout this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 3 of these genesFLVCR1SNX14MKS1About this report →
- Congenital Myasthenic SyndromeReads 2 of these genesSCN4ADPAGT1About this report →
- Colorectal Cancer & PolyposisReads 1 of these genesPOLEAbout this report →
- Congenital Adrenal HyperplasiaReads 1 of these genesPORAbout this report →
- Waardenburg SyndromeReads 1 of these genesPAX3About this report →
- Disorders of Glycine & Serine MetabolismReads 1 of these genesPHGDHAbout this report →
- Progressive Cardiac Conduction Disease & Sick Sinus SyndromeReads 1 of these genesLMNAAbout this report →
- Charcot-Marie-Tooth DiseaseReads 3 of these genesFIG4LMNATRPV4About this report →
- Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)Reads 2 of these genesPUM1CACNA1GAbout this report →
- Breast and Ovarian Cancer Genes Beyond BRCA1/2Reads 1 of these genesCDH1About this report →
- Agammaglobulinaemia (XLA and Autosomal Forms)Reads 1 of these genesPIK3R1About this report →
- Meckel SyndromeReads 1 of these genesMKS1About this report →
- Epilepsy (Full Panel)Reads 4 of these genesFLNAPUM1SMC1AKDM5CAbout this report →
- LipodystrophyReads 1 of these genesLMNAAbout this report →
- Severe Congenital NeutropeniaReads 1 of these genesG6PC3About this report →
- Type I InterferonopathiesReads 1 of these genesPOMPAbout this report →
- Inherited Congenital Heart DefectsReads 1 of these genesFLNAAbout this report →
- Rare Hereditary Peripheral NeuropathiesReads 4 of these genesCLCF1FIG4LMNATRPV4About this report →
- Complex Cortical Dysplasia and Frontoparietal PolymicrogyriaReads 1 of these genesCAMSAP1About this report →
- Primary Lymphoedema & Lymphatic MalformationsReads 1 of these genesFAT4About this report →
- Fanconi AnemiaReads 1 of these genesBRCA1About 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 genesFLVCR1OFD1About this report →
- Homocystinuria & Cobalamin DisordersReads 1 of these genesMTRRAbout this report →
- Ehlers-Danlos SyndromeReads 1 of these genesTNXBAbout this report →
- Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)Reads 1 of these genesCLCF1About this report →
- Pelizaeus-Merzbacher Disease & Hypomyelinating LeukodystrophiesReads 1 of these genesPOLR3AAbout this report →
- VitreoretinopathyReads 1 of these genesCOL2A1About this report →
- Microphthalmia, Anophthalmia & ColobomaReads 1 of these genesBCORAbout this report →
- Amyotrophic Lateral Sclerosis (ALS)Reads 1 of these genesFIG4About this report →
- Nephrotic SyndromeReads 1 of these genesNUP107About this report →
- Severe Combined ImmunodeficiencyReads 1 of these genesNHEJ1About this report →
- Inherited ThrombocytopeniasReads 1 of these genesCDC42About this report →
- Limb-Girdle Muscular DystrophyReads 1 of these genesLMNAAbout this report →
- Osteogenesis ImperfectaReads 1 of these genesPOLR3AAbout this report →
- Rare Monogenic Autoinflammatory DiseasesReads 1 of these genesPOMPAbout this report →
- Hereditary Palmoplantar Keratodermas and Pachyonychia CongenitaReads 1 of these genesGJA1About this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 1 of these genesSCN4AAbout this report →
- DNA Repair DiseaseReads 1 of these genesBRCA1About this report →
- Dilated CardiomyopathyReads 1 of these genesLMNAAbout this report →
- Female InfertilityReads 1 of these genesNUP107About this report →
- Other Inborn Errors of ImmunityReads 2 of these genesNHEJ1PIK3R1About this report →
- Hereditary Spastic ParaplegiaReads 1 of these genesSPARTAbout this report →
- Other Inherited LeukodystrophiesReads 1 of these genesPOLR3AAbout this report →
- Hearing Loss and DeafnessReads 1 of these genesMAP1BAbout this report →
연관 유전자 201개: Curvature of digit
이 유전자들의 변화는 Curvature of digit 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 |
|---|---|---|
| ARID2AT-rich interaction domain 2 | 항상 | 질환 2개에서 나타남 |
| BBS7Bardet-Biedl syndrome 7 | 항상 | 질환 1개에서 나타남 |
| BCORBCL6 corepressor | 항상 | 질환 1개에서 나타남 |
| CEP295centrosomal protein 295 | 항상 | 질환 1개에서 나타남 |
| CHSY1chondroitin sulfate synthase 1 | 항상 | 질환 1개에서 나타남 |
| CIROZciliated left-right organizer protein containing ZP-N domains | 항상 | 질환 1개에서 나타남 |
| CLCF1cardiotrophin like cytokine factor 1 | 항상 | 질환 1개에서 나타남 |
| DVL3dishevelled segment polarity protein 3 | 항상 | 질환 1개에서 나타남 |
| FIG4FIG4 phosphoinositide 5-phosphatase | 항상 | 질환 1개에서 나타남 |
| FLNAfilamin A | 항상 | 질환 3개에서 나타남 |
| FLVCR1FLVCR choline and heme transporter 1 | 항상 | 질환 1개에서 나타남 |
| HOXA13homeobox A13 | 항상 | 질환 1개에서 나타남 |
| INPP5Einositol polyphosphate-5-phosphatase E | 항상 | 질환 1개에서 나타남 |
| INTUinturned planar cell polarity protein | 항상 | 질환 1개에서 나타남 |
| KDM2Blysine demethylase 2B | 항상 | 질환 1개에서 나타남 |
| KDM6Blysine demethylase 6B | 항상 | 질환 1개에서 나타남 |
| KIF15kinesin family member 15 | 항상 | 질환 2개에서 나타남 |
| KIF7kinesin family member 7 | 항상 | 질환 2개에서 나타남 |
| MED16mediator complex subunit 16 | 항상 | 질환 1개에서 나타남 |
| MYOD1myogenic differentiation 1 | 항상 | 질환 1개에서 나타남 |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | 항상 | 질환 1개에서 나타남 |
| NHEJ1non-homologous end joining factor 1 | 항상 | 질환 1개에서 나타남 |
| NUP188nucleoporin 188 | 항상 | 질환 1개에서 나타남 |
| NXNnucleoredoxin | 항상 | 질환 1개에서 나타남 |
| OBSL1obscurin like cytoskeletal adaptor 1 | 항상 | 질환 1개에서 나타남 |
| OGTO-linked N-acetylglucosamine (GlcNAc) transferase | 항상 | 질환 1개에서 나타남 |
| PAN2poly(A) specific ribonuclease subunit PAN2 | 항상 | 질환 1개에서 나타남 |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | 항상 | 질환 2개에서 나타남 |
| PTH1Rparathyroid hormone 1 receptor | 항상 | 질환 1개에서 나타남 |
| PUM1pumilio RNA binding family member 1 | 항상 | 질환 1개에서 나타남 |
| RAC3Rac family small GTPase 3 | 항상 | 질환 1개에서 나타남 |
| SCN4Asodium voltage-gated channel alpha subunit 4 | 항상 | 질환 1개에서 나타남 |
| SMC1Astructural maintenance of chromosomes 1A | 항상 | 질환 2개에서 나타남 |
| SOX11SRY-box transcription factor 11 | 항상 | 질환 2개에서 나타남 |
| SPOUT1SPOUT domain containing methyltransferase 1 | 항상 | 질환 1개에서 나타남 |
| UBAP2Lubiquitin associated protein 2 like | 항상 | 질환 1개에서 나타남 |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | 항상 | 질환 1개에서 나타남 |
| DVL1dishevelled segment polarity protein 1 | 매우 자주 (80–99%) | 질환 2개에서 나타남 |
| ROR2ROR family WNT receptor 2 | 매우 자주 (80–99%) | 질환 1개에서 나타남 |
| ACVR1activin A receptor type 1 | 자주 (30–79%) | 질환 1개에서 나타남 |
유전자 161개 더 보기
| 유전자 | 나타나는 빈도 | 질환 |
|---|---|---|
| AHDC1AT-hook DNA binding motif containing 1 | 자주 (30–79%) | 질환 1개에서 나타남 |
| ARID1AAT-rich interaction domain 1A | 자주 (30–79%) | 질환 1개에서 나타남 |
| ARID1BAT-rich interaction domain 1B | 자주 (30–79%) | 질환 1개에서 나타남 |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | 자주 (30–79%) | 질환 1개에서 나타남 |
| CDK13cyclin dependent kinase 13 | 자주 (30–79%) | 질환 1개에서 나타남 |
| CEP57centrosomal protein 57 | 자주 (30–79%) | 질환 1개에서 나타남 |
| COL2A1collagen type II alpha 1 chain | 자주 (30–79%) | 질환 2개에서 나타남 |
| DPF2double PHD fingers 2 | 자주 (30–79%) | 질환 1개에서 나타남 |
| EBF3EBF transcription factor 3 | 자주 (30–79%) | 질환 1개에서 나타남 |
| EXOSC5exosome component 5 | 자주 (30–79%) | 질환 1개에서 나타남 |
| GINS3GINS complex subunit 3 | 자주 (30–79%) | 질환 1개에서 나타남 |
| GJA1gap junction protein alpha 1 | 자주 (30–79%) | 질환 2개에서 나타남 |
| GPC4glypican 4 | 자주 (30–79%) | 질환 1개에서 나타남 |
| GRB10growth factor receptor bound protein 10 | 자주 (30–79%) | 질환 1개에서 나타남 |
| IGF1insulin like growth factor 1 | 자주 (30–79%) | 질환 1개에서 나타남 |
| IGF1Rinsulin like growth factor 1 receptor | 자주 (30–79%) | 질환 2개에서 나타남 |
| MED12mediator complex subunit 12 | 자주 (30–79%) | 질환 2개에서 나타남 |
| NCAPG2non-SMC condensin II complex subunit G2 | 자주 (30–79%) | 질환 1개에서 나타남 |
| POLR3ARNA polymerase III subunit A | 자주 (30–79%) | 질환 1개에서 나타남 |
| PPFIA3PPFI scaffold protein A3 | 자주 (30–79%) | 질환 1개에서 나타남 |
| RALARAS like proto-oncogene A | 자주 (30–79%) | 질환 1개에서 나타남 |
| RBSNrabenosyn, RAB effector | 자주 (30–79%) | 질환 1개에서 나타남 |
| SLC29A3solute carrier family 29 member 3 | 자주 (30–79%) | 질환 1개에서 나타남 |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | 자주 (30–79%) | 질환 1개에서 나타남 |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | 자주 (30–79%) | 질환 1개에서 나타남 |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | 자주 (30–79%) | 질환 1개에서 나타남 |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | 자주 (30–79%) | 질환 1개에서 나타남 |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | 자주 (30–79%) | 질환 1개에서 나타남 |
| SMC5structural maintenance of chromosomes 5 | 자주 (30–79%) | 질환 1개에서 나타남 |
| SNX14sorting nexin 14 | 자주 (30–79%) | 질환 2개에서 나타남 |
| SOX4SRY-box transcription factor 4 | 자주 (30–79%) | 질환 1개에서 나타남 |
| TELO2telomere maintenance 2 | 자주 (30–79%) | 질환 2개에서 나타남 |
| TOP2BDNA topoisomerase II beta | 자주 (30–79%) | 질환 1개에서 나타남 |
| TRAF7TNF receptor associated factor 7 | 자주 (30–79%) | 질환 1개에서 나타남 |
| TRPS1transcriptional repressor GATA binding 1 | 자주 (30–79%) | 질환 1개에서 나타남 |
| XYLT1xylosyltransferase 1 | 자주 (30–79%) | 질환 1개에서 나타남 |
| ZNF668zinc finger protein 668 | 자주 (30–79%) | 질환 1개에서 나타남 |
| ASCC3activating signal cointegrator 1 complex subunit 3 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| CAMSAP1calmodulin regulated spectrin associated protein 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| CDC42cell division cycle 42 | 가끔 (5–29%) | 질환 2개에서 나타남 |
| CDK10cyclin dependent kinase 10 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| CILK1ciliogenesis associated kinase 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| COLEC10collectin subfamily member 10 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| DDX3XDEAD-box helicase 3 X-linked | 가끔 (5–29%) | 질환 1개에서 나타남 |
| DLK1delta like non-canonical Notch ligand 1 | 가끔 (5–29%) | 질환 3개에서 나타남 |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| ERMARDER membrane associated RNA degradation | 가끔 (5–29%) | 질환 1개에서 나타남 |
| FBXO11F-box protein 11 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| FGF10fibroblast growth factor 10 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| FGFR1fibroblast growth factor receptor 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| FGFR2fibroblast growth factor receptor 2 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| FGFR3fibroblast growth factor receptor 3 | 가끔 (5–29%) | 질환 2개에서 나타남 |
| FOXP1forkhead box P1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| IL11RAinterleukin 11 receptor subunit alpha | 가끔 (5–29%) | 질환 1개에서 나타남 |
| ITCHitchy E3 ubiquitin protein ligase | 가끔 (5–29%) | 질환 2개에서 나타남 |
| KDM5Clysine demethylase 5C | 가끔 (5–29%) | 질환 1개에서 나타남 |
| KMT2Alysine methyltransferase 2A | 가끔 (5–29%) | 질환 1개에서 나타남 |
| KMT2Dlysine methyltransferase 2D | 가끔 (5–29%) | 질환 1개에서 나타남 |
| MAP1Bmicrotubule associated protein 1B | 가끔 (5–29%) | 질환 1개에서 나타남 |
| MAPK1mitogen-activated protein kinase 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| MED13Lmediator complex subunit 13L | 가끔 (5–29%) | 질환 2개에서 나타남 |
| MED25mediator complex subunit 25 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| MEG3maternally expressed 3 | 가끔 (5–29%) | 질환 3개에서 나타남 |
| MID2midline 2 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | 가끔 (5–29%) | 질환 1개에서 나타남 |
| NARS1asparaginyl-tRNA synthetase 1 | 가끔 (5–29%) | 질환 2개에서 나타남 |
| NFIXnuclear factor I X | 가끔 (5–29%) | 질환 1개에서 나타남 |
| NIPBLNIPBL cohesin loading factor | 가끔 (5–29%) | 질환 1개에서 나타남 |
| NPR3natriuretic peptide receptor 3 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| NUP107nucleoporin 107 | 가끔 (5–29%) | 질환 2개에서 나타남 |
| OFD1OFD1 centriole and centriolar satellite protein | 가끔 (5–29%) | 질환 1개에서 나타남 |
| PAX1paired box 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| PCDHGC4protocadherin gamma subfamily C, 4 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| PGAP2post-GPI attachment to proteins 2 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| PGAP3post-GPI attachment to proteins phospholipase 3 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | 가끔 (5–29%) | 질환 1개에서 나타남 |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | 가끔 (5–29%) | 질환 1개에서 나타남 |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | 가끔 (5–29%) | 질환 1개에서 나타남 |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | 가끔 (5–29%) | 질환 1개에서 나타남 |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | 가끔 (5–29%) | 질환 1개에서 나타남 |
| POGZpogo transposable element derived with ZNF domain | 가끔 (5–29%) | 질환 1개에서 나타남 |
| POLEDNA polymerase epsilon, catalytic subunit | 가끔 (5–29%) | 질환 1개에서 나타남 |
| PORcytochrome p450 oxidoreductase | 가끔 (5–29%) | 질환 1개에서 나타남 |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | 가끔 (5–29%) | 질환 1개에서 나타남 |
| RBM10RNA binding motif protein 10 | 가끔 (5–29%) | 질환 2개에서 나타남 |
| RHOAras homolog family member A | 가끔 (5–29%) | 질환 1개에서 나타남 |
| RTL1retrotransposon Gag like 1 | 가끔 (5–29%) | 질환 3개에서 나타남 |
| SCARF2scavenger receptor class F member 2 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| SIN3ASIN3 transcription regulator family member A | 가끔 (5–29%) | 질환 3개에서 나타남 |
| SIN3BSIN3 transcription regulator family member B | 가끔 (5–29%) | 질환 1개에서 나타남 |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | 가끔 (5–29%) | 질환 1개에서 나타남 |
| SPARTspartin | 가끔 (5–29%) | 질환 2개에서 나타남 |
| SPRED2sprouty related EVH1 domain containing 2 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| SRCAPSnf2 related CREBBP activator protein | 가끔 (5–29%) | 질환 1개에서 나타남 |
| TASP1taspase 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| TNXBtenascin XB | 가끔 (5–29%) | 질환 1개에서 나타남 |
| TRMT10AtRNA methyltransferase 10A | 가끔 (5–29%) | 질환 1개에서 나타남 |
| WDR83OSWD repeat domain 83 opposite strand | 가끔 (5–29%) | 질환 1개에서 나타남 |
| XRCC4X-ray repair cross complementing 4 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| ZFXzinc finger protein X-linked | 가끔 (5–29%) | 질환 1개에서 나타남 |
| FN1fibronectin 1 | 드물게 (1–4%) | 질환 1개에서 나타남 |
| PAHphenylalanine hydroxylase | 드물게 (1–4%) | 질환 1개에서 나타남 |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | 드물게 (1–4%) | 질환 1개에서 나타남 |
| TBCKTBC1 domain containing kinase | 드물게 (1–4%) | 질환 1개에서 나타남 |
| ALG3ALG3 alpha-1,3- mannosyltransferase | 기록되지 않음 | 질환 1개에서 나타남 |
| ALX3ALX homeobox 3 | 기록되지 않음 | 질환 1개에서 나타남 |
| ATRXATRX chromatin remodeler | 기록되지 않음 | 질환 2개에서 나타남 |
| BLTP1bridge-like lipid transfer protein family member 1 | 기록되지 않음 | 질환 1개에서 나타남 |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | 기록되지 않음 | 질환 1개에서 나타남 |
| BRCA1BRCA1 DNA repair associated | 기록되지 않음 | 질환 1개에서 나타남 |
| CD96CD96 molecule | 기록되지 않음 | 질환 1개에서 나타남 |
| CDC6cell division cycle 6 | 기록되지 않음 | 질환 1개에서 나타남 |
| CDH1cadherin 1 | 기록되지 않음 | 질환 1개에서 나타남 |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | 기록되지 않음 | 질환 1개에서 나타남 |
| DCHS1dachsous cadherin-related 1 | 기록되지 않음 | 질환 1개에서 나타남 |
| DLX5distal-less homeobox 5 | 기록되지 않음 | 질환 1개에서 나타남 |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | 기록되지 않음 | 질환 1개에서 나타남 |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | 기록되지 않음 | 질환 1개에서 나타남 |
| FAT4FAT atypical cadherin 4 | 기록되지 않음 | 질환 1개에서 나타남 |
| G6PC3glucose-6-phosphatase catalytic subunit 3 | 기록되지 않음 | 질환 1개에서 나타남 |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | 기록되지 않음 | 질환 1개에서 나타남 |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | 기록되지 않음 | 질환 1개에서 나타남 |
| IFT122intraflagellar transport 122 | 기록되지 않음 | 질환 1개에서 나타남 |
| KCNN3potassium calcium-activated channel subfamily N member 3 | 기록되지 않음 | 질환 1개에서 나타남 |
| LMNAlamin A/C | 기록되지 않음 | 질환 1개에서 나타남 |
| MAGEL2MAGE family member L2 | 기록되지 않음 | 질환 2개에서 나타남 |
| MAP2K1mitogen-activated protein kinase kinase 1 | 기록되지 않음 | 질환 1개에서 나타남 |
| MKRN3makorin ring finger protein 3 | 기록되지 않음 | 질환 1개에서 나타남 |
| MKS1MKS transition zone complex subunit 1 | 기록되지 않음 | 질환 1개에서 나타남 |
| NOGnoggin | 기록되지 않음 | 질환 1개에서 나타남 |
| NPAP1nuclear pore associated protein 1 | 기록되지 않음 | 질환 1개에서 나타남 |
| NSMFNMDA receptor synaptonuclear signaling and neuronal migration factor | 기록되지 않음 | 질환 1개에서 나타남 |
| PAX3paired box 3 | 기록되지 않음 | 질환 1개에서 나타남 |
| PCGF2polycomb group ring finger 2 | 기록되지 않음 | 질환 1개에서 나타남 |
| PHGDHphosphoglycerate dehydrogenase | 기록되지 않음 | 질환 1개에서 나타남 |
| PIEZO2piezo type mechanosensitive ion channel component 2 | 기록되지 않음 | 질환 1개에서 나타남 |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | 기록되지 않음 | 질환 1개에서 나타남 |
| POC1APOC1 centriolar protein A | 기록되지 않음 | 질환 1개에서 나타남 |
| POMPproteasome maturation protein | 기록되지 않음 | 질환 1개에서 나타남 |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | 기록되지 않음 | 질환 1개에서 나타남 |
| PUF60poly(U) binding splicing factor 60 | 기록되지 않음 | 질환 1개에서 나타남 |
| PWAR1Prader Willi/Angelman region RNA 1 | 기록되지 않음 | 질환 1개에서 나타남 |
| PWRN1Prader-Willi region non-protein coding RNA 1 | 기록되지 않음 | 질환 1개에서 나타남 |
| SF3B4splicing factor 3b subunit 4 | 기록되지 않음 | 질환 1개에서 나타남 |
| SLC35A1solute carrier family 35 member A1 | 기록되지 않음 | 질환 1개에서 나타남 |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | 기록되지 않음 | 질환 1개에서 나타남 |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | 기록되지 않음 | 질환 1개에서 나타남 |
| SOX5SRY-box transcription factor 5 | 기록되지 않음 | 질환 1개에서 나타남 |
| SPRTNSprT-like N-terminal domain | 기록되지 않음 | 질환 1개에서 나타남 |
| SSR4signal sequence receptor subunit 4 | 기록되지 않음 | 질환 1개에서 나타남 |
| STAMBPSTAM binding protein | 기록되지 않음 | 질환 1개에서 나타남 |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | 기록되지 않음 | 질환 1개에서 나타남 |
| TCF4transcription factor 4 | 기록되지 않음 | 질환 1개에서 나타남 |
| TCTN3tectonic family member 3 | 기록되지 않음 | 질환 1개에서 나타남 |
| TNNT3troponin T3, fast skeletal type | 기록되지 않음 | 질환 1개에서 나타남 |
| TRIP12thyroid hormone receptor interactor 12 | 기록되지 않음 | 질환 1개에서 나타남 |
| TRPV4transient receptor potential cation channel subfamily V member 4 | 기록되지 않음 | 질환 2개에서 나타남 |
| WDR35WD repeat domain 35 | 기록되지 않음 | 질환 1개에서 나타남 |
| WNK3WNK lysine deficient protein kinase 3 | 기록되지 않음 | 질환 1개에서 나타남 |
| WNT5AWnt family member 5A | 기록되지 않음 | 질환 1개에서 나타남 |
| WNT7AWnt family member 7A | 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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