Tunnus
Delayed bone maturation
Kliiniline nimetus: Delayed skeletal maturation
A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Kokkuvõte
- Teised nimetused
- Delayed skeletal development, Delayed bone age, Delayed bone age before puberty
- Kehasüsteem
- Abnormality of the musculoskeletal system
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Delayed bone maturation, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test367 geeni on seotud tunnusega Delayed bone maturation
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Delayed bone maturation. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| ANKRD11ankyrin repeat domain 11 | Alati | Esineb 2 haiguses |
| BMPR1Bbone morphogenetic protein receptor type 1B | Alati | Esineb 1 haiguses |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Alati | Esineb 3 haiguses |
| BRD4bromodomain containing 4 | Alati | Esineb 2 haiguses |
| BTKBruton tyrosine kinase | Alati | Esineb 1 haiguses |
| CDC6cell division cycle 6 | Alati | Esineb 2 haiguses |
| CEP57centrosomal protein 57 | Alati | Esineb 1 haiguses |
| CILK1ciliogenesis associated kinase 1 | Alati | Esineb 1 haiguses |
| COX4I1cytochrome c oxidase subunit 4I1 | Alati | Esineb 1 haiguses |
| CUL7cullin 7 | Alati | Esineb 2 haiguses |
| CYP19A1cytochrome P450 family 19 subfamily A member 1 | Alati | Esineb 2 haiguses |
| DNA2DNA replication helicase/nuclease 2 | Alati | Esineb 2 haiguses |
| DONSONDNA replication fork stabilization factor DONSON | Alati | Esineb 2 haiguses |
| ERI1exoribonuclease 1 | Alati | Esineb 1 haiguses |
| ESR1estrogen receptor 1 | Alati | Esineb 1 haiguses |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Alati | Esineb 1 haiguses |
| FBN1fibrillin 1 | Alati | Esineb 6 haiguses |
| FOXE1forkhead box E1 | Alati | Esineb 1 haiguses |
| GET4guided entry of tail-anchored proteins factor 4 | Alati | Esineb 1 haiguses |
| GHRgrowth hormone receptor | Alati | Esineb 3 haiguses |
| GLI2GLI family zinc finger 2 | Alati | Esineb 2 haiguses |
| GMNNgeminin DNA replication inhibitor | Alati | Esineb 2 haiguses |
| HMGA2high mobility group AT-hook 2 | Alati | Esineb 1 haiguses |
| IGF1insulin like growth factor 1 | Alati | Esineb 2 haiguses |
| ITCHitchy E3 ubiquitin protein ligase | Alati | Esineb 1 haiguses |
| KARS1lysyl-tRNA synthetase 1 | Alati | Esineb 1 haiguses |
| LPIN2lipin 2 | Alati | Esineb 1 haiguses |
| MALT1MALT1 paracaspase | Alati | Esineb 1 haiguses |
| MCM9minichromosome maintenance 9 homologous recombination repair factor | Alati | Esineb 1 haiguses |
| MSMO1methylsterol monooxygenase 1 | Alati | Esineb 1 haiguses |
| NINninein | Alati | Esineb 3 haiguses |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Alati | Esineb 1 haiguses |
| OBSL1obscurin like cytoskeletal adaptor 1 | Alati | Esineb 2 haiguses |
| ORC1origin recognition complex subunit 1 | Alati | Esineb 2 haiguses |
| ORC4origin recognition complex subunit 4 | Alati | Esineb 2 haiguses |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Alati | Esineb 1 haiguses |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Alati | Esineb 2 haiguses |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Alati | Esineb 1 haiguses |
| PNPLA6patatin like domain 6, lysophospholipase | Alati | Esineb 2 haiguses |
| PPOXprotoporphyrinogen oxidase | Alati | Esineb 1 haiguses |
Näita veel 327 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Alati | Esineb 2 haiguses |
| PRKG2protein kinase cGMP-dependent 2 | Alati | Esineb 1 haiguses |
| PTDSS1phosphatidylserine synthase 1 | Alati | Esineb 2 haiguses |
| RBSNrabenosyn, RAB effector | Alati | Esineb 2 haiguses |
| RNPC3RNA binding region (RNP1, RRM) containing 3 | Alati | Esineb 1 haiguses |
| RSPRY1ring finger and SPRY domain containing 1 | Alati | Esineb 2 haiguses |
| SLC30A7solute carrier family 30 member 7 | Alati | Esineb 1 haiguses |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Alati | Esineb 2 haiguses |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Alati | Esineb 2 haiguses |
| SPIDRscaffold protein involved in DNA repair | Alati | Esineb 2 haiguses |
| SPRTNSprT-like N-terminal domain | Alati | Esineb 1 haiguses |
| TAF13TATA-box binding protein associated factor 13 | Alati | Esineb 1 haiguses |
| TAF4TATA-box binding protein associated factor 4 | Alati | Esineb 1 haiguses |
| TBCKTBC1 domain containing kinase | Alati | Esineb 2 haiguses |
| TMEM67transmembrane protein 67 | Alati | Esineb 2 haiguses |
| UFSP2UFM1 specific peptidase 2 | Alati | Esineb 1 haiguses |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Alati | Esineb 1 haiguses |
| ADAMTSL2ADAMTS like 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| AHSGalpha 2-HS glycoprotein | Väga sageli (80–99%) | Esineb 1 haiguses |
| ANTXR1ANTXR cell adhesion molecule 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| ATRATR checkpoint kinase | Väga sageli (80–99%) | Esineb 2 haiguses |
| ATRIPATR interacting protein | Väga sageli (80–99%) | Esineb 1 haiguses |
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Väga sageli (80–99%) | Esineb 1 haiguses |
| CDC45cell division cycle 45 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Väga sageli (80–99%) | Esineb 1 haiguses |
| CDT1chromatin licensing and DNA replication factor 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| CENPEcentromere protein E | Väga sageli (80–99%) | Esineb 1 haiguses |
| CEP152centrosomal protein 152 | Väga sageli (80–99%) | Esineb 2 haiguses |
| CEP295centrosomal protein 295 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CEP63centrosomal protein 63 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CHD7chromodomain helicase DNA binding protein 7 | Väga sageli (80–99%) | Esineb 2 haiguses |
| COL2A1collagen type II alpha 1 chain | Väga sageli (80–99%) | Esineb 3 haiguses |
| CPAPcentrosome assembly and centriole elongation protein | Väga sageli (80–99%) | Esineb 1 haiguses |
| CYB5Acytochrome b5 type A | Väga sageli (80–99%) | Esineb 1 haiguses |
| CYP11A1cytochrome P450 family 11 subfamily A member 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| CYP17A1cytochrome P450 family 17 subfamily A member 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| DCAF17DDB1 and CUL4 associated factor 17 | Väga sageli (80–99%) | Esineb 1 haiguses |
| DUSP6dual specificity phosphatase 6 | Väga sageli (80–99%) | Esineb 2 haiguses |
| EMX2empty spiracles homeobox 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| EXT1exostosin glycosyltransferase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| FGF17fibroblast growth factor 17 | Väga sageli (80–99%) | Esineb 2 haiguses |
| FGF8fibroblast growth factor 8 | Väga sageli (80–99%) | Esineb 3 haiguses |
| FGFR1fibroblast growth factor receptor 1 | Väga sageli (80–99%) | Esineb 3 haiguses |
| FSHBfollicle stimulating hormone subunit beta | Väga sageli (80–99%) | Esineb 2 haiguses |
| GBA1glucosylceramidase beta 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| GHSRgrowth hormone secretagogue receptor | Väga sageli (80–99%) | Esineb 2 haiguses |
| GNRH1gonadotropin releasing hormone 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GNRHRgonadotropin releasing hormone receptor | Väga sageli (80–99%) | Esineb 1 haiguses |
| GPX4glutathione peroxidase 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GRB10growth factor receptor bound protein 10 | Väga sageli (80–99%) | Esineb 1 haiguses |
| H19H19 imprinted maternally expressed transcript | Väga sageli (80–99%) | Esineb 2 haiguses |
| HDAC8histone deacetylase 8 | Väga sageli (80–99%) | Esineb 1 haiguses |
| HRASHRas proto-oncogene, GTPase | Väga sageli (80–99%) | Esineb 1 haiguses |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| IGF1Rinsulin like growth factor 1 receptor | Väga sageli (80–99%) | Esineb 2 haiguses |
| IGF2insulin like growth factor 2 | Väga sageli (80–99%) | Esineb 4 haiguses |
| IHHIndian hedgehog signaling molecule | Väga sageli (80–99%) | Esineb 1 haiguses |
| INPPL1inositol polyphosphate phosphatase like 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ITGB6integrin subunit beta 6 | Väga sageli (80–99%) | Esineb 1 haiguses |
| KISS1KiSS-1 metastasis suppressor | Väga sageli (80–99%) | Esineb 2 haiguses |
| KISS1RKISS1 receptor | Väga sageli (80–99%) | Esineb 2 haiguses |
| LONP1lon peptidase 1, mitochondrial | Väga sageli (80–99%) | Esineb 2 haiguses |
| LSSlanosterol synthase | Väga sageli (80–99%) | Esineb 1 haiguses |
| MAU2MAU2 sister chromatid cohesion factor | Väga sageli (80–99%) | Esineb 2 haiguses |
| MECP2methyl-CpG binding protein 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MMP13matrix metallopeptidase 13 | Väga sageli (80–99%) | Esineb 2 haiguses |
| MVKmevalonate kinase | Väga sageli (80–99%) | Esineb 1 haiguses |
| NEU1neuraminidase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NHLH2nescient helix-loop-helix 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NIPBLNIPBL cohesin loading factor | Väga sageli (80–99%) | Esineb 2 haiguses |
| NSMCE2NSE2 SUMO ligase component of SMC5/6 complex | Väga sageli (80–99%) | Esineb 1 haiguses |
| NSMFNMDA receptor synaptonuclear signaling and neuronal migration factor | Väga sageli (80–99%) | Esineb 1 haiguses |
| NUP85nucleoporin 85 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ORC6origin recognition complex subunit 6 | Väga sageli (80–99%) | Esineb 2 haiguses |
| PCNTpericentrin | Väga sageli (80–99%) | Esineb 3 haiguses |
| PLK4polo like kinase 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| POLA1DNA polymerase alpha 1, catalytic subunit | Väga sageli (80–99%) | Esineb 1 haiguses |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Väga sageli (80–99%) | Esineb 2 haiguses |
| PROK2prokineticin 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| PROKR2prokineticin receptor 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| RAD21RAD21 cohesin complex component | Väga sageli (80–99%) | Esineb 2 haiguses |
| RBBP8RB binding protein 8, endonuclease | Väga sageli (80–99%) | Esineb 1 haiguses |
| RNU12RNA, U12 small nuclear | Väga sageli (80–99%) | Esineb 1 haiguses |
| RNU4ATACRNA, U4atac small nuclear | Väga sageli (80–99%) | Esineb 3 haiguses |
| RPS6KA3ribosomal protein S6 kinase A3 | Väga sageli (80–99%) | Esineb 2 haiguses |
| SCARB2scavenger receptor class B member 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Väga sageli (80–99%) | Esineb 1 haiguses |
| SMC1Astructural maintenance of chromosomes 1A | Väga sageli (80–99%) | Esineb 1 haiguses |
| SMC3structural maintenance of chromosomes 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SPRY4sprouty RTK signaling antagonist 4 | Väga sageli (80–99%) | Esineb 2 haiguses |
| SRCAPSnf2 related CREBBP activator protein | Väga sageli (80–99%) | Esineb 2 haiguses |
| STAT1signal transducer and activator of transcription 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TAC3tachykinin precursor 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TACR3tachykinin receptor 3 | Väga sageli (80–99%) | Esineb 2 haiguses |
| TBC1D7TBC1 domain family member 7 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TBCEtubulin folding cofactor E | Väga sageli (80–99%) | Esineb 4 haiguses |
| TRAIPTRAF interacting protein | Väga sageli (80–99%) | Esineb 1 haiguses |
| TRPS1transcriptional repressor GATA binding 1 | Väga sageli (80–99%) | Esineb 3 haiguses |
| WDR11WD repeat domain 11 | Väga sageli (80–99%) | Esineb 3 haiguses |
| ABCC9ATP binding cassette subfamily C member 9 | Sageli (30–79%) | Esineb 2 haiguses |
| ABCD4ATP binding cassette subfamily D member 4 | Sageli (30–79%) | Esineb 1 haiguses |
| ARID1AAT-rich interaction domain 1A | Sageli (30–79%) | Esineb 2 haiguses |
| ARID1BAT-rich interaction domain 1B | Sageli (30–79%) | Esineb 2 haiguses |
| ARID2AT-rich interaction domain 2 | Sageli (30–79%) | Esineb 2 haiguses |
| BMP15bone morphogenetic protein 15 | Sageli (30–79%) | Esineb 1 haiguses |
| BNC1basonuclin zinc finger protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| BRF1BRF1 general transcription factor IIIB subunit | Sageli (30–79%) | Esineb 2 haiguses |
| CBLCbl proto-oncogene | Sageli (30–79%) | Esineb 1 haiguses |
| CDK4cyclin dependent kinase 4 | Sageli (30–79%) | Esineb 1 haiguses |
| CHP1calcineurin like EF-hand protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| CKAP2Lcytoskeleton associated protein 2L | Sageli (30–79%) | Esineb 1 haiguses |
| COX4I2cytochrome c oxidase subunit 4I2 | Sageli (30–79%) | Esineb 1 haiguses |
| CPLX1complexin 1 | Sageli (30–79%) | Esineb 2 haiguses |
| CREBBPCREB binding lysine acetyltransferase | Sageli (30–79%) | Esineb 2 haiguses |
| CTBP1C-terminal binding protein 1 | Sageli (30–79%) | Esineb 2 haiguses |
| DCCDCC netrin 1 receptor | Sageli (30–79%) | Esineb 2 haiguses |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Sageli (30–79%) | Esineb 2 haiguses |
| DPF2double PHD fingers 2 | Sageli (30–79%) | Esineb 1 haiguses |
| EFL1elongation factor like GTPase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| FAM111AFAM111 trypsin like peptidase A | Sageli (30–79%) | Esineb 1 haiguses |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Sageli (30–79%) | Esineb 1 haiguses |
| FIGLAfolliculogenesis specific bHLH transcription factor | Sageli (30–79%) | Esineb 1 haiguses |
| FMR1fragile X messenger ribonucleoprotein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| FSHRfollicle stimulating hormone receptor | Sageli (30–79%) | Esineb 1 haiguses |
| GDF5growth differentiation factor 5 | Sageli (30–79%) | Esineb 2 haiguses |
| GINS3GINS complex subunit 3 | Sageli (30–79%) | Esineb 1 haiguses |
| GTF2E2general transcription factor IIE subunit 2 | Sageli (30–79%) | Esineb 2 haiguses |
| KCNJ8potassium inwardly rectifying channel subfamily J member 8 | Sageli (30–79%) | Esineb 1 haiguses |
| KMT2Alysine methyltransferase 2A | Sageli (30–79%) | Esineb 2 haiguses |
| KRASKRas proto-oncogene, GTPase | Sageli (30–79%) | Esineb 3 haiguses |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Sageli (30–79%) | Esineb 2 haiguses |
| LTBP3latent transforming growth factor beta binding protein 3 | Sageli (30–79%) | Esineb 4 haiguses |
| LZTR1leucine zipper like post translational regulator 1 | Sageli (30–79%) | Esineb 1 haiguses |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Sageli (30–79%) | Esineb 1 haiguses |
| MRASmuscle RAS oncogene homolog | Sageli (30–79%) | Esineb 1 haiguses |
| MRPS22mitochondrial ribosomal protein S22 | Sageli (30–79%) | Esineb 2 haiguses |
| MSH4mutS homolog 4 | Sageli (30–79%) | Esineb 1 haiguses |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Sageli (30–79%) | Esineb 2 haiguses |
| NBASNBAS subunit of NRZ tethering complex | Sageli (30–79%) | Esineb 1 haiguses |
| NELFAnegative elongation factor complex member A | Sageli (30–79%) | Esineb 1 haiguses |
| NFE2L2NFE2 like bZIP transcription factor 2 | Sageli (30–79%) | Esineb 1 haiguses |
| NR5A1nuclear receptor subfamily 5 group A member 1 | Sageli (30–79%) | Esineb 2 haiguses |
| NRASNRAS proto-oncogene, GTPase | Sageli (30–79%) | Esineb 1 haiguses |
| NSD1nuclear receptor binding SET domain protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| NSD2nuclear receptor binding SET domain protein 2 | Sageli (30–79%) | Esineb 2 haiguses |
| NUP107nucleoporin 107 | Sageli (30–79%) | Esineb 1 haiguses |
| PDGFRBplatelet derived growth factor receptor beta | Sageli (30–79%) | Esineb 1 haiguses |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Sageli (30–79%) | Esineb 1 haiguses |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Sageli (30–79%) | Esineb 2 haiguses |
| POLR3HRNA polymerase III subunit H | Sageli (30–79%) | Esineb 1 haiguses |
| POU3F4POU class 3 homeobox 4 | Sageli (30–79%) | Esineb 1 haiguses |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Sageli (30–79%) | Esineb 1 haiguses |
| PSMC3IPPSMC3 interacting protein | Sageli (30–79%) | Esineb 1 haiguses |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Sageli (30–79%) | Esineb 1 haiguses |
| QRICH1glutamine rich 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Sageli (30–79%) | Esineb 1 haiguses |
| RASA2RAS p21 protein activator 2 | Sageli (30–79%) | Esineb 1 haiguses |
| RBM28RNA binding motif protein 28 | Sageli (30–79%) | Esineb 1 haiguses |
| RIT1Ras like without CAAX 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RNF13ring finger protein 13 | Sageli (30–79%) | Esineb 2 haiguses |
| ROBO3roundabout guidance receptor 3 | Sageli (30–79%) | Esineb 1 haiguses |
| RRASRAS related | Sageli (30–79%) | Esineb 1 haiguses |
| RRAS2RAS related 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SBDSSBDS ribosome maturation factor | Sageli (30–79%) | Esineb 2 haiguses |
| SECISBP2SECIS binding protein 2 | Sageli (30–79%) | Esineb 2 haiguses |
| SLC7A7solute carrier family 7 member 7 | Sageli (30–79%) | Esineb 2 haiguses |
| SMAD4SMAD family member 4 | Sageli (30–79%) | Esineb 1 haiguses |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Sageli (30–79%) | Esineb 3 haiguses |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Sageli (30–79%) | Esineb 2 haiguses |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Sageli (30–79%) | Esineb 1 haiguses |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Sageli (30–79%) | Esineb 1 haiguses |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Sageli (30–79%) | Esineb 1 haiguses |
| SMPD1sphingomyelin phosphodiesterase 1 | Sageli (30–79%) | Esineb 2 haiguses |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SOX11SRY-box transcription factor 11 | Sageli (30–79%) | Esineb 1 haiguses |
| SOX4SRY-box transcription factor 4 | Sageli (30–79%) | Esineb 1 haiguses |
| SPRED2sprouty related EVH1 domain containing 2 | Sageli (30–79%) | Esineb 1 haiguses |
| TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase | Sageli (30–79%) | Esineb 1 haiguses |
| THRBthyroid hormone receptor beta | Sageli (30–79%) | Esineb 1 haiguses |
| TP53tumor protein p53 | Sageli (30–79%) | Esineb 1 haiguses |
| TRHRthyrotropin releasing hormone receptor | Sageli (30–79%) | Esineb 2 haiguses |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Sageli (30–79%) | Esineb 2 haiguses |
| TSHBthyroid stimulating hormone subunit beta | Sageli (30–79%) | Esineb 1 haiguses |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | Sageli (30–79%) | Esineb 2 haiguses |
| ZSWIM7zinc finger SWIM-type containing 7 | Sageli (30–79%) | Esineb 1 haiguses |
| AARS1alanyl-tRNA synthetase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ADAMTS10ADAM metallopeptidase with thrombospondin type 1 motif 10 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ADAMTS17ADAM metallopeptidase with thrombospondin type 1 motif 17 | Mõnikord (5–29%) | Esineb 1 haiguses |
| AGAaspartylglucosaminidase | Mõnikord (5–29%) | Esineb 2 haiguses |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| ANAPC1anaphase promoting complex subunit 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| ANKRD17ankyrin repeat domain 17 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ANOS1anosmin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Mõnikord (5–29%) | Esineb 1 haiguses |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| CARS1cysteinyl-tRNA synthetase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CCDC141coiled-coil domain containing 141 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CHST3carbohydrate sulfotransferase 3 | Mõnikord (5–29%) | Esineb 2 haiguses |
| CLIP2CAP-Gly domain containing linker protein 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DBR1debranching RNA lariats 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DDB2damage specific DNA binding protein 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DHX37DEAH-box helicase 37 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DPP6dipeptidyl peptidase like 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| EIF4Heukaryotic translation initiation factor 4H | Mõnikord (5–29%) | Esineb 1 haiguses |
| ELNelastin | Mõnikord (5–29%) | Esineb 1 haiguses |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Mõnikord (5–29%) | Esineb 2 haiguses |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Mõnikord (5–29%) | Esineb 2 haiguses |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| ERCC5ERCC excision repair 5, endonuclease | Mõnikord (5–29%) | Esineb 1 haiguses |
| EVCEvC ciliary complex subunit 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| EVC2EvC ciliary complex subunit 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| EXTL3exostosin like glycosyltransferase 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FBXO11F-box protein 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FEZF1FEZ family zinc finger 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Mõnikord (5–29%) | Esineb 1 haiguses |
| FLNBfilamin B | Mõnikord (5–29%) | Esineb 2 haiguses |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FOXA2forkhead box A2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FOXP2forkhead box P2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GATA4GATA binding protein 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GLI1GLI family zinc finger 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GTF2H5general transcription factor IIH subunit 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GTF2Igeneral transcription factor IIi | Mõnikord (5–29%) | Esineb 1 haiguses |
| GTF2IRD1GTF2I repeat domain containing 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GTF2IRD2GTF2I repeat domain containing 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HESX1HESX homeobox 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| HSPG2heparan sulfate proteoglycan 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| IL17RDinterleukin 17 receptor D | Mõnikord (5–29%) | Esineb 1 haiguses |
| INSRinsulin receptor | Mõnikord (5–29%) | Esineb 2 haiguses |
| KIF15kinesin family member 15 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LHX4LIM homeobox 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LIMK1LIM domain kinase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LTBP2latent transforming growth factor beta binding protein 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MADDMAP kinase activating death domain | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAP3K1mitogen-activated protein kinase kinase kinase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| METTL27methyltransferase like 27 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MPLKIPM-phase specific PLK1 interacting protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MYH3myosin heavy chain 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| NCF1neutrophil cytosolic factor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NDNFneuron derived neurotrophic factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| NGLY1N-glycanase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NPR2natriuretic peptide receptor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NR0B1nuclear receptor subfamily 0 group B member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| OTX2orthodenticle homeobox 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PCSK1proprotein convertase subtilisin/kexin type 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PEX1peroxisomal biogenesis factor 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| PEX6peroxisomal biogenesis factor 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| POMCproopiomelanocortin | Mõnikord (5–29%) | Esineb 1 haiguses |
| POU1F1POU class 1 homeobox 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Mõnikord (5–29%) | Esineb 1 haiguses |
| PRKACAprotein kinase cAMP-activated catalytic subunit alpha | Mõnikord (5–29%) | Esineb 1 haiguses |
| PRKACBprotein kinase cAMP-activated catalytic subunit beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| PROP1PROP paired-like homeobox 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| PTENphosphatase and tensin homolog | Mõnikord (5–29%) | Esineb 1 haiguses |
| RECQL4RecQ like helicase 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RFC2replication factor C subunit 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNF113Aring finger protein 113A | Mõnikord (5–29%) | Esineb 1 haiguses |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Mõnikord (5–29%) | Esineb 1 haiguses |
| SEMA3Asemaphorin 3A | Mõnikord (5–29%) | Esineb 1 haiguses |
| SIN3ASIN3 transcription regulator family member A | Mõnikord (5–29%) | Esineb 2 haiguses |
| SIN3BSIN3 transcription regulator family member B | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC29A3solute carrier family 29 member 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SOX10SRY-box transcription factor 10 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SOX3SRY-box transcription factor 3 | Mõnikord (5–29%) | Esineb 2 haiguses |
| SOX9SRY-box transcription factor 9 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SRYsex determining region Y | Mõnikord (5–29%) | Esineb 2 haiguses |
| STX1Asyntaxin 1A | Mõnikord (5–29%) | Esineb 1 haiguses |
| TARS1threonyl-tRNA synthetase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TBL2transducin beta like 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TMEM270transmembrane protein 270 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRAF7TNF receptor associated factor 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| VAMP7vesicle associated membrane protein 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| VPS37DVPS37D subunit of ESCRT-I | Mõnikord (5–29%) | Esineb 1 haiguses |
| WT1WT1 transcription factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| WWOXWW domain containing oxidoreductase | Mõnikord (5–29%) | Esineb 1 haiguses |
| XPAXPA, DNA damage recognition and repair factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZEB2zinc finger E-box binding homeobox 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| ZFPM2zinc finger protein, FOG family member 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZFXzinc finger protein X-linked | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZNF699zinc finger protein 699 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ACVR1activin A receptor type 1 | Harva (1–4%) | Esineb 1 haiguses |
| CTNScystinosin, lysosomal cystine transporter | Harva (1–4%) | Esineb 2 haiguses |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Harva (1–4%) | Esineb 1 haiguses |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Harva (1–4%) | Esineb 1 haiguses |
| ACANaggrecan | Pole registreeritud | Esineb 1 haiguses |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Pole registreeritud | Esineb 1 haiguses |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Pole registreeritud | Esineb 2 haiguses |
| ATRXATRX chromatin remodeler | Pole registreeritud | Esineb 1 haiguses |
| BMP2bone morphogenetic protein 2 | Pole registreeritud | Esineb 1 haiguses |
| CCBE1collagen and calcium binding EGF domains 1 | Pole registreeritud | Esineb 1 haiguses |
| CD96CD96 molecule | Pole registreeritud | Esineb 1 haiguses |
| DVL1dishevelled segment polarity protein 1 | Pole registreeritud | Esineb 1 haiguses |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Pole registreeritud | Esineb 1 haiguses |
| EP300EP300 lysine acetyltransferase | Pole registreeritud | Esineb 1 haiguses |
| FGFRL1fibroblast growth factor receptor like 1 | Pole registreeritud | Esineb 1 haiguses |
| GH1growth hormone 1 | Pole registreeritud | Esineb 2 haiguses |
| GHRHRgrowth hormone releasing hormone receptor | Pole registreeritud | Esineb 1 haiguses |
| GJA1gap junction protein alpha 1 | Pole registreeritud | Esineb 1 haiguses |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Pole registreeritud | Esineb 1 haiguses |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Pole registreeritud | Esineb 1 haiguses |
| IFT57intraflagellar transport 57 | Pole registreeritud | Esineb 1 haiguses |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Pole registreeritud | Esineb 1 haiguses |
| LGR4leucine rich repeat containing G protein-coupled receptor 4 | Pole registreeritud | Esineb 1 haiguses |
| MAP2K1mitogen-activated protein kinase kinase 1 | Pole registreeritud | Esineb 1 haiguses |
| MAP2K2mitogen-activated protein kinase kinase 2 | Pole registreeritud | Esineb 1 haiguses |
| PAM16presequence translocase associated motor 16 | Pole registreeritud | Esineb 1 haiguses |
| PAX8paired box 8 | Pole registreeritud | Esineb 1 haiguses |
| PCGF2polycomb group ring finger 2 | Pole registreeritud | Esineb 1 haiguses |
| POP1POP1 ribonuclease P/MRP subunit | Pole registreeritud | Esineb 1 haiguses |
| ROR2ROR family WNT receptor 2 | Pole registreeritud | Esineb 1 haiguses |
| SLC25A24solute carrier family 25 member 24 | Pole registreeritud | Esineb 1 haiguses |
| SOHLH1spermatogenesis and oogenesis specific basic helix-loop-helix 1 | Pole registreeritud | Esineb 1 haiguses |
| SRP54signal recognition particle 54 | Pole registreeritud | Esineb 1 haiguses |
| STAT5Bsignal transducer and activator of transcription 5B | Pole registreeritud | Esineb 1 haiguses |
| THRAthyroid hormone receptor alpha | Pole registreeritud | Esineb 1 haiguses |
| TONSLtonsoku like, DNA repair protein | Pole registreeritud | Esineb 1 haiguses |
| WNT5AWnt family member 5A | Pole registreeritud | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Kitsamad tunnused
Laiemad tunnused
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.16-c6eea6bf.
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast