Požymis
Delayed bone maturation
Klinikinis pavadinimas: 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.
Santrauka
- Taip pat vadinama
- Delayed skeletal development, Delayed bone age, Delayed bone age before puberty
- Kūno sistema
- Abnormality of the musculoskeletal system
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
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Įsigyti savo Genome Test367 genų susiję su Delayed bone maturation
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Delayed bone maturation. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| ANKRD11ankyrin repeat domain 11 | Visada | 2 ligose |
| BMPR1Bbone morphogenetic protein receptor type 1B | Visada | 1 ligoje |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Visada | 3 ligose |
| BRD4bromodomain containing 4 | Visada | 2 ligose |
| BTKBruton tyrosine kinase | Visada | 1 ligoje |
| CDC6cell division cycle 6 | Visada | 2 ligose |
| CEP57centrosomal protein 57 | Visada | 1 ligoje |
| CILK1ciliogenesis associated kinase 1 | Visada | 1 ligoje |
| COX4I1cytochrome c oxidase subunit 4I1 | Visada | 1 ligoje |
| CUL7cullin 7 | Visada | 2 ligose |
| CYP19A1cytochrome P450 family 19 subfamily A member 1 | Visada | 2 ligose |
| DNA2DNA replication helicase/nuclease 2 | Visada | 2 ligose |
| DONSONDNA replication fork stabilization factor DONSON | Visada | 2 ligose |
| ERI1exoribonuclease 1 | Visada | 1 ligoje |
| ESR1estrogen receptor 1 | Visada | 1 ligoje |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Visada | 1 ligoje |
| FBN1fibrillin 1 | Visada | 6 ligose |
| FOXE1forkhead box E1 | Visada | 1 ligoje |
| GET4guided entry of tail-anchored proteins factor 4 | Visada | 1 ligoje |
| GHRgrowth hormone receptor | Visada | 3 ligose |
| GLI2GLI family zinc finger 2 | Visada | 2 ligose |
| GMNNgeminin DNA replication inhibitor | Visada | 2 ligose |
| HMGA2high mobility group AT-hook 2 | Visada | 1 ligoje |
| IGF1insulin like growth factor 1 | Visada | 2 ligose |
| ITCHitchy E3 ubiquitin protein ligase | Visada | 1 ligoje |
| KARS1lysyl-tRNA synthetase 1 | Visada | 1 ligoje |
| LPIN2lipin 2 | Visada | 1 ligoje |
| MALT1MALT1 paracaspase | Visada | 1 ligoje |
| MCM9minichromosome maintenance 9 homologous recombination repair factor | Visada | 1 ligoje |
| MSMO1methylsterol monooxygenase 1 | Visada | 1 ligoje |
| NINninein | Visada | 3 ligose |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Visada | 1 ligoje |
| OBSL1obscurin like cytoskeletal adaptor 1 | Visada | 2 ligose |
| ORC1origin recognition complex subunit 1 | Visada | 2 ligose |
| ORC4origin recognition complex subunit 4 | Visada | 2 ligose |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Visada | 1 ligoje |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Visada | 2 ligose |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Visada | 1 ligoje |
| PNPLA6patatin like domain 6, lysophospholipase | Visada | 2 ligose |
| PPOXprotoporphyrinogen oxidase | Visada | 1 ligoje |
Rodyti dar 327 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Visada | 2 ligose |
| PRKG2protein kinase cGMP-dependent 2 | Visada | 1 ligoje |
| PTDSS1phosphatidylserine synthase 1 | Visada | 2 ligose |
| RBSNrabenosyn, RAB effector | Visada | 2 ligose |
| RNPC3RNA binding region (RNP1, RRM) containing 3 | Visada | 1 ligoje |
| RSPRY1ring finger and SPRY domain containing 1 | Visada | 2 ligose |
| SLC30A7solute carrier family 30 member 7 | Visada | 1 ligoje |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Visada | 2 ligose |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Visada | 2 ligose |
| SPIDRscaffold protein involved in DNA repair | Visada | 2 ligose |
| SPRTNSprT-like N-terminal domain | Visada | 1 ligoje |
| TAF13TATA-box binding protein associated factor 13 | Visada | 1 ligoje |
| TAF4TATA-box binding protein associated factor 4 | Visada | 1 ligoje |
| TBCKTBC1 domain containing kinase | Visada | 2 ligose |
| TMEM67transmembrane protein 67 | Visada | 2 ligose |
| UFSP2UFM1 specific peptidase 2 | Visada | 1 ligoje |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Visada | 1 ligoje |
| ADAMTSL2ADAMTS like 2 | Labai dažnai (80–99%) | 2 ligose |
| AHSGalpha 2-HS glycoprotein | Labai dažnai (80–99%) | 1 ligoje |
| ANTXR1ANTXR cell adhesion molecule 1 | Labai dažnai (80–99%) | 2 ligose |
| ATRATR checkpoint kinase | Labai dažnai (80–99%) | 2 ligose |
| ATRIPATR interacting protein | Labai dažnai (80–99%) | 1 ligoje |
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Labai dažnai (80–99%) | 1 ligoje |
| CDC45cell division cycle 45 | Labai dažnai (80–99%) | 1 ligoje |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Labai dažnai (80–99%) | 1 ligoje |
| CDT1chromatin licensing and DNA replication factor 1 | Labai dažnai (80–99%) | 2 ligose |
| CENPEcentromere protein E | Labai dažnai (80–99%) | 1 ligoje |
| CEP152centrosomal protein 152 | Labai dažnai (80–99%) | 2 ligose |
| CEP295centrosomal protein 295 | Labai dažnai (80–99%) | 1 ligoje |
| CEP63centrosomal protein 63 | Labai dažnai (80–99%) | 1 ligoje |
| CHD7chromodomain helicase DNA binding protein 7 | Labai dažnai (80–99%) | 2 ligose |
| COL2A1collagen type II alpha 1 chain | Labai dažnai (80–99%) | 3 ligose |
| CPAPcentrosome assembly and centriole elongation protein | Labai dažnai (80–99%) | 1 ligoje |
| CYB5Acytochrome b5 type A | Labai dažnai (80–99%) | 1 ligoje |
| CYP11A1cytochrome P450 family 11 subfamily A member 1 | Labai dažnai (80–99%) | 2 ligose |
| CYP17A1cytochrome P450 family 17 subfamily A member 1 | Labai dažnai (80–99%) | 2 ligose |
| DCAF17DDB1 and CUL4 associated factor 17 | Labai dažnai (80–99%) | 1 ligoje |
| DUSP6dual specificity phosphatase 6 | Labai dažnai (80–99%) | 2 ligose |
| EMX2empty spiracles homeobox 2 | Labai dažnai (80–99%) | 2 ligose |
| EXT1exostosin glycosyltransferase 1 | Labai dažnai (80–99%) | 1 ligoje |
| FGF17fibroblast growth factor 17 | Labai dažnai (80–99%) | 2 ligose |
| FGF8fibroblast growth factor 8 | Labai dažnai (80–99%) | 3 ligose |
| FGFR1fibroblast growth factor receptor 1 | Labai dažnai (80–99%) | 3 ligose |
| FSHBfollicle stimulating hormone subunit beta | Labai dažnai (80–99%) | 2 ligose |
| GBA1glucosylceramidase beta 1 | Labai dažnai (80–99%) | 2 ligose |
| GHSRgrowth hormone secretagogue receptor | Labai dažnai (80–99%) | 2 ligose |
| GNRH1gonadotropin releasing hormone 1 | Labai dažnai (80–99%) | 1 ligoje |
| GNRHRgonadotropin releasing hormone receptor | Labai dažnai (80–99%) | 1 ligoje |
| GPX4glutathione peroxidase 4 | Labai dažnai (80–99%) | 1 ligoje |
| GRB10growth factor receptor bound protein 10 | Labai dažnai (80–99%) | 1 ligoje |
| H19H19 imprinted maternally expressed transcript | Labai dažnai (80–99%) | 2 ligose |
| HDAC8histone deacetylase 8 | Labai dažnai (80–99%) | 1 ligoje |
| HRASHRas proto-oncogene, GTPase | Labai dažnai (80–99%) | 1 ligoje |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Labai dažnai (80–99%) | 2 ligose |
| IGF1Rinsulin like growth factor 1 receptor | Labai dažnai (80–99%) | 2 ligose |
| IGF2insulin like growth factor 2 | Labai dažnai (80–99%) | 4 ligose |
| IHHIndian hedgehog signaling molecule | Labai dažnai (80–99%) | 1 ligoje |
| INPPL1inositol polyphosphate phosphatase like 1 | Labai dažnai (80–99%) | 1 ligoje |
| ITGB6integrin subunit beta 6 | Labai dažnai (80–99%) | 1 ligoje |
| KISS1KiSS-1 metastasis suppressor | Labai dažnai (80–99%) | 2 ligose |
| KISS1RKISS1 receptor | Labai dažnai (80–99%) | 2 ligose |
| LONP1lon peptidase 1, mitochondrial | Labai dažnai (80–99%) | 2 ligose |
| LSSlanosterol synthase | Labai dažnai (80–99%) | 1 ligoje |
| MAU2MAU2 sister chromatid cohesion factor | Labai dažnai (80–99%) | 2 ligose |
| MECP2methyl-CpG binding protein 2 | Labai dažnai (80–99%) | 1 ligoje |
| MMP13matrix metallopeptidase 13 | Labai dažnai (80–99%) | 2 ligose |
| MVKmevalonate kinase | Labai dažnai (80–99%) | 1 ligoje |
| NEU1neuraminidase 1 | Labai dažnai (80–99%) | 1 ligoje |
| NHLH2nescient helix-loop-helix 2 | Labai dažnai (80–99%) | 1 ligoje |
| NIPBLNIPBL cohesin loading factor | Labai dažnai (80–99%) | 2 ligose |
| NSMCE2NSE2 SUMO ligase component of SMC5/6 complex | Labai dažnai (80–99%) | 1 ligoje |
| NSMFNMDA receptor synaptonuclear signaling and neuronal migration factor | Labai dažnai (80–99%) | 1 ligoje |
| NUP85nucleoporin 85 | Labai dažnai (80–99%) | 1 ligoje |
| ORC6origin recognition complex subunit 6 | Labai dažnai (80–99%) | 2 ligose |
| PCNTpericentrin | Labai dažnai (80–99%) | 3 ligose |
| PLK4polo like kinase 4 | Labai dažnai (80–99%) | 1 ligoje |
| POLA1DNA polymerase alpha 1, catalytic subunit | Labai dažnai (80–99%) | 1 ligoje |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Labai dažnai (80–99%) | 2 ligose |
| PROK2prokineticin 2 | Labai dažnai (80–99%) | 2 ligose |
| PROKR2prokineticin receptor 2 | Labai dažnai (80–99%) | 2 ligose |
| RAD21RAD21 cohesin complex component | Labai dažnai (80–99%) | 2 ligose |
| RBBP8RB binding protein 8, endonuclease | Labai dažnai (80–99%) | 1 ligoje |
| RNU12RNA, U12 small nuclear | Labai dažnai (80–99%) | 1 ligoje |
| RNU4ATACRNA, U4atac small nuclear | Labai dažnai (80–99%) | 3 ligose |
| RPS6KA3ribosomal protein S6 kinase A3 | Labai dažnai (80–99%) | 2 ligose |
| SCARB2scavenger receptor class B member 2 | Labai dažnai (80–99%) | 1 ligoje |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Labai dažnai (80–99%) | 1 ligoje |
| SMC1Astructural maintenance of chromosomes 1A | Labai dažnai (80–99%) | 1 ligoje |
| SMC3structural maintenance of chromosomes 3 | Labai dažnai (80–99%) | 1 ligoje |
| SPRY4sprouty RTK signaling antagonist 4 | Labai dažnai (80–99%) | 2 ligose |
| SRCAPSnf2 related CREBBP activator protein | Labai dažnai (80–99%) | 2 ligose |
| STAT1signal transducer and activator of transcription 1 | Labai dažnai (80–99%) | 1 ligoje |
| TAC3tachykinin precursor 3 | Labai dažnai (80–99%) | 1 ligoje |
| TACR3tachykinin receptor 3 | Labai dažnai (80–99%) | 2 ligose |
| TBC1D7TBC1 domain family member 7 | Labai dažnai (80–99%) | 1 ligoje |
| TBCEtubulin folding cofactor E | Labai dažnai (80–99%) | 4 ligose |
| TRAIPTRAF interacting protein | Labai dažnai (80–99%) | 1 ligoje |
| TRPS1transcriptional repressor GATA binding 1 | Labai dažnai (80–99%) | 3 ligose |
| WDR11WD repeat domain 11 | Labai dažnai (80–99%) | 3 ligose |
| ABCC9ATP binding cassette subfamily C member 9 | Dažnai (30–79%) | 2 ligose |
| ABCD4ATP binding cassette subfamily D member 4 | Dažnai (30–79%) | 1 ligoje |
| ARID1AAT-rich interaction domain 1A | Dažnai (30–79%) | 2 ligose |
| ARID1BAT-rich interaction domain 1B | Dažnai (30–79%) | 2 ligose |
| ARID2AT-rich interaction domain 2 | Dažnai (30–79%) | 2 ligose |
| BMP15bone morphogenetic protein 15 | Dažnai (30–79%) | 1 ligoje |
| BNC1basonuclin zinc finger protein 1 | Dažnai (30–79%) | 1 ligoje |
| BRF1BRF1 general transcription factor IIIB subunit | Dažnai (30–79%) | 2 ligose |
| CBLCbl proto-oncogene | Dažnai (30–79%) | 1 ligoje |
| CDK4cyclin dependent kinase 4 | Dažnai (30–79%) | 1 ligoje |
| CHP1calcineurin like EF-hand protein 1 | Dažnai (30–79%) | 1 ligoje |
| CKAP2Lcytoskeleton associated protein 2L | Dažnai (30–79%) | 1 ligoje |
| COX4I2cytochrome c oxidase subunit 4I2 | Dažnai (30–79%) | 1 ligoje |
| CPLX1complexin 1 | Dažnai (30–79%) | 2 ligose |
| CREBBPCREB binding lysine acetyltransferase | Dažnai (30–79%) | 2 ligose |
| CTBP1C-terminal binding protein 1 | Dažnai (30–79%) | 2 ligose |
| DCCDCC netrin 1 receptor | Dažnai (30–79%) | 2 ligose |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Dažnai (30–79%) | 2 ligose |
| DPF2double PHD fingers 2 | Dažnai (30–79%) | 1 ligoje |
| EFL1elongation factor like GTPase 1 | Dažnai (30–79%) | 1 ligoje |
| FAM111AFAM111 trypsin like peptidase A | Dažnai (30–79%) | 1 ligoje |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| FIGLAfolliculogenesis specific bHLH transcription factor | Dažnai (30–79%) | 1 ligoje |
| FMR1fragile X messenger ribonucleoprotein 1 | Dažnai (30–79%) | 1 ligoje |
| FSHRfollicle stimulating hormone receptor | Dažnai (30–79%) | 1 ligoje |
| GDF5growth differentiation factor 5 | Dažnai (30–79%) | 2 ligose |
| GINS3GINS complex subunit 3 | Dažnai (30–79%) | 1 ligoje |
| GTF2E2general transcription factor IIE subunit 2 | Dažnai (30–79%) | 2 ligose |
| KCNJ8potassium inwardly rectifying channel subfamily J member 8 | Dažnai (30–79%) | 1 ligoje |
| KMT2Alysine methyltransferase 2A | Dažnai (30–79%) | 2 ligose |
| KRASKRas proto-oncogene, GTPase | Dažnai (30–79%) | 3 ligose |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Dažnai (30–79%) | 2 ligose |
| LTBP3latent transforming growth factor beta binding protein 3 | Dažnai (30–79%) | 4 ligose |
| LZTR1leucine zipper like post translational regulator 1 | Dažnai (30–79%) | 1 ligoje |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Dažnai (30–79%) | 1 ligoje |
| MRASmuscle RAS oncogene homolog | Dažnai (30–79%) | 1 ligoje |
| MRPS22mitochondrial ribosomal protein S22 | Dažnai (30–79%) | 2 ligose |
| MSH4mutS homolog 4 | Dažnai (30–79%) | 1 ligoje |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Dažnai (30–79%) | 2 ligose |
| NBASNBAS subunit of NRZ tethering complex | Dažnai (30–79%) | 1 ligoje |
| NELFAnegative elongation factor complex member A | Dažnai (30–79%) | 1 ligoje |
| NFE2L2NFE2 like bZIP transcription factor 2 | Dažnai (30–79%) | 1 ligoje |
| NR5A1nuclear receptor subfamily 5 group A member 1 | Dažnai (30–79%) | 2 ligose |
| NRASNRAS proto-oncogene, GTPase | Dažnai (30–79%) | 1 ligoje |
| NSD1nuclear receptor binding SET domain protein 1 | Dažnai (30–79%) | 1 ligoje |
| NSD2nuclear receptor binding SET domain protein 2 | Dažnai (30–79%) | 2 ligose |
| NUP107nucleoporin 107 | Dažnai (30–79%) | 1 ligoje |
| PDGFRBplatelet derived growth factor receptor beta | Dažnai (30–79%) | 1 ligoje |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Dažnai (30–79%) | 1 ligoje |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Dažnai (30–79%) | 2 ligose |
| POLR3HRNA polymerase III subunit H | Dažnai (30–79%) | 1 ligoje |
| POU3F4POU class 3 homeobox 4 | Dažnai (30–79%) | 1 ligoje |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Dažnai (30–79%) | 1 ligoje |
| PSMC3IPPSMC3 interacting protein | Dažnai (30–79%) | 1 ligoje |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Dažnai (30–79%) | 1 ligoje |
| QRICH1glutamine rich 1 | Dažnai (30–79%) | 1 ligoje |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Dažnai (30–79%) | 1 ligoje |
| RASA2RAS p21 protein activator 2 | Dažnai (30–79%) | 1 ligoje |
| RBM28RNA binding motif protein 28 | Dažnai (30–79%) | 1 ligoje |
| RIT1Ras like without CAAX 1 | Dažnai (30–79%) | 1 ligoje |
| RNF13ring finger protein 13 | Dažnai (30–79%) | 2 ligose |
| ROBO3roundabout guidance receptor 3 | Dažnai (30–79%) | 1 ligoje |
| RRASRAS related | Dažnai (30–79%) | 1 ligoje |
| RRAS2RAS related 2 | Dažnai (30–79%) | 1 ligoje |
| SBDSSBDS ribosome maturation factor | Dažnai (30–79%) | 2 ligose |
| SECISBP2SECIS binding protein 2 | Dažnai (30–79%) | 2 ligose |
| SLC7A7solute carrier family 7 member 7 | Dažnai (30–79%) | 2 ligose |
| SMAD4SMAD family member 4 | Dažnai (30–79%) | 1 ligoje |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Dažnai (30–79%) | 3 ligose |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Dažnai (30–79%) | 2 ligose |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Dažnai (30–79%) | 1 ligoje |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Dažnai (30–79%) | 1 ligoje |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Dažnai (30–79%) | 1 ligoje |
| SMPD1sphingomyelin phosphodiesterase 1 | Dažnai (30–79%) | 2 ligose |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Dažnai (30–79%) | 1 ligoje |
| SOX11SRY-box transcription factor 11 | Dažnai (30–79%) | 1 ligoje |
| SOX4SRY-box transcription factor 4 | Dažnai (30–79%) | 1 ligoje |
| SPRED2sprouty related EVH1 domain containing 2 | Dažnai (30–79%) | 1 ligoje |
| TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase | Dažnai (30–79%) | 1 ligoje |
| THRBthyroid hormone receptor beta | Dažnai (30–79%) | 1 ligoje |
| TP53tumor protein p53 | Dažnai (30–79%) | 1 ligoje |
| TRHRthyrotropin releasing hormone receptor | Dažnai (30–79%) | 2 ligose |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Dažnai (30–79%) | 2 ligose |
| TSHBthyroid stimulating hormone subunit beta | Dažnai (30–79%) | 1 ligoje |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | Dažnai (30–79%) | 2 ligose |
| ZSWIM7zinc finger SWIM-type containing 7 | Dažnai (30–79%) | 1 ligoje |
| AARS1alanyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| ADAMTS10ADAM metallopeptidase with thrombospondin type 1 motif 10 | Kartais (5–29%) | 1 ligoje |
| ADAMTS17ADAM metallopeptidase with thrombospondin type 1 motif 17 | Kartais (5–29%) | 1 ligoje |
| AGAaspartylglucosaminidase | Kartais (5–29%) | 2 ligose |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Kartais (5–29%) | 1 ligoje |
| ANAPC1anaphase promoting complex subunit 1 | Kartais (5–29%) | 2 ligose |
| ANKRD17ankyrin repeat domain 17 | Kartais (5–29%) | 1 ligoje |
| ANOS1anosmin 1 | Kartais (5–29%) | 1 ligoje |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Kartais (5–29%) | 1 ligoje |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Kartais (5–29%) | 1 ligoje |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Kartais (5–29%) | 1 ligoje |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Kartais (5–29%) | 1 ligoje |
| CARS1cysteinyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| CCDC141coiled-coil domain containing 141 | Kartais (5–29%) | 1 ligoje |
| CHST3carbohydrate sulfotransferase 3 | Kartais (5–29%) | 2 ligose |
| CLIP2CAP-Gly domain containing linker protein 2 | Kartais (5–29%) | 1 ligoje |
| DBR1debranching RNA lariats 1 | Kartais (5–29%) | 1 ligoje |
| DDB2damage specific DNA binding protein 2 | Kartais (5–29%) | 1 ligoje |
| DHX37DEAH-box helicase 37 | Kartais (5–29%) | 1 ligoje |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Kartais (5–29%) | 1 ligoje |
| DPP6dipeptidyl peptidase like 6 | Kartais (5–29%) | 1 ligoje |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Kartais (5–29%) | 1 ligoje |
| EIF4Heukaryotic translation initiation factor 4H | Kartais (5–29%) | 1 ligoje |
| ELNelastin | Kartais (5–29%) | 1 ligoje |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Kartais (5–29%) | 2 ligose |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Kartais (5–29%) | 2 ligose |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Kartais (5–29%) | 1 ligoje |
| ERCC5ERCC excision repair 5, endonuclease | Kartais (5–29%) | 1 ligoje |
| EVCEvC ciliary complex subunit 1 | Kartais (5–29%) | 1 ligoje |
| EVC2EvC ciliary complex subunit 2 | Kartais (5–29%) | 1 ligoje |
| EXTL3exostosin like glycosyltransferase 3 | Kartais (5–29%) | 1 ligoje |
| FBXO11F-box protein 11 | Kartais (5–29%) | 1 ligoje |
| FEZF1FEZ family zinc finger 1 | Kartais (5–29%) | 1 ligoje |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Kartais (5–29%) | 1 ligoje |
| FLNBfilamin B | Kartais (5–29%) | 2 ligose |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Kartais (5–29%) | 1 ligoje |
| FOXA2forkhead box A2 | Kartais (5–29%) | 1 ligoje |
| FOXP2forkhead box P2 | Kartais (5–29%) | 1 ligoje |
| GATA4GATA binding protein 4 | Kartais (5–29%) | 1 ligoje |
| GLI1GLI family zinc finger 1 | Kartais (5–29%) | 1 ligoje |
| GTF2H5general transcription factor IIH subunit 5 | Kartais (5–29%) | 1 ligoje |
| GTF2Igeneral transcription factor IIi | Kartais (5–29%) | 1 ligoje |
| GTF2IRD1GTF2I repeat domain containing 1 | Kartais (5–29%) | 1 ligoje |
| GTF2IRD2GTF2I repeat domain containing 2 | Kartais (5–29%) | 1 ligoje |
| HESX1HESX homeobox 1 | Kartais (5–29%) | 2 ligose |
| HSPG2heparan sulfate proteoglycan 2 | Kartais (5–29%) | 2 ligose |
| IL17RDinterleukin 17 receptor D | Kartais (5–29%) | 1 ligoje |
| INSRinsulin receptor | Kartais (5–29%) | 2 ligose |
| KIF15kinesin family member 15 | Kartais (5–29%) | 1 ligoje |
| LHX4LIM homeobox 4 | Kartais (5–29%) | 1 ligoje |
| LIMK1LIM domain kinase 1 | Kartais (5–29%) | 1 ligoje |
| LTBP2latent transforming growth factor beta binding protein 2 | Kartais (5–29%) | 1 ligoje |
| MADDMAP kinase activating death domain | Kartais (5–29%) | 1 ligoje |
| MAP3K1mitogen-activated protein kinase kinase kinase 1 | Kartais (5–29%) | 1 ligoje |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Kartais (5–29%) | 1 ligoje |
| METTL27methyltransferase like 27 | Kartais (5–29%) | 1 ligoje |
| MPLKIPM-phase specific PLK1 interacting protein | Kartais (5–29%) | 1 ligoje |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Kartais (5–29%) | 1 ligoje |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Kartais (5–29%) | 1 ligoje |
| MYH3myosin heavy chain 3 | Kartais (5–29%) | 1 ligoje |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Kartais (5–29%) | 1 ligoje |
| NCF1neutrophil cytosolic factor 1 | Kartais (5–29%) | 1 ligoje |
| NDNFneuron derived neurotrophic factor | Kartais (5–29%) | 1 ligoje |
| NGLY1N-glycanase 1 | Kartais (5–29%) | 1 ligoje |
| NPR2natriuretic peptide receptor 2 | Kartais (5–29%) | 1 ligoje |
| NR0B1nuclear receptor subfamily 0 group B member 1 | Kartais (5–29%) | 1 ligoje |
| OTX2orthodenticle homeobox 2 | Kartais (5–29%) | 1 ligoje |
| PCSK1proprotein convertase subtilisin/kexin type 1 | Kartais (5–29%) | 1 ligoje |
| PEX1peroxisomal biogenesis factor 1 | Kartais (5–29%) | 2 ligose |
| PEX6peroxisomal biogenesis factor 6 | Kartais (5–29%) | 1 ligoje |
| POMCproopiomelanocortin | Kartais (5–29%) | 1 ligoje |
| POU1F1POU class 1 homeobox 1 | Kartais (5–29%) | 1 ligoje |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Kartais (5–29%) | 1 ligoje |
| PRKACAprotein kinase cAMP-activated catalytic subunit alpha | Kartais (5–29%) | 1 ligoje |
| PRKACBprotein kinase cAMP-activated catalytic subunit beta | Kartais (5–29%) | 1 ligoje |
| PROP1PROP paired-like homeobox 1 | Kartais (5–29%) | 2 ligose |
| PTENphosphatase and tensin homolog | Kartais (5–29%) | 1 ligoje |
| RECQL4RecQ like helicase 4 | Kartais (5–29%) | 1 ligoje |
| RFC2replication factor C subunit 2 | Kartais (5–29%) | 1 ligoje |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Kartais (5–29%) | 1 ligoje |
| RNF113Aring finger protein 113A | Kartais (5–29%) | 1 ligoje |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Kartais (5–29%) | 1 ligoje |
| SEMA3Asemaphorin 3A | Kartais (5–29%) | 1 ligoje |
| SIN3ASIN3 transcription regulator family member A | Kartais (5–29%) | 2 ligose |
| SIN3BSIN3 transcription regulator family member B | Kartais (5–29%) | 1 ligoje |
| SLC29A3solute carrier family 29 member 3 | Kartais (5–29%) | 1 ligoje |
| SOX10SRY-box transcription factor 10 | Kartais (5–29%) | 1 ligoje |
| SOX3SRY-box transcription factor 3 | Kartais (5–29%) | 2 ligose |
| SOX9SRY-box transcription factor 9 | Kartais (5–29%) | 1 ligoje |
| SRYsex determining region Y | Kartais (5–29%) | 2 ligose |
| STX1Asyntaxin 1A | Kartais (5–29%) | 1 ligoje |
| TARS1threonyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| TBL2transducin beta like 2 | Kartais (5–29%) | 1 ligoje |
| TMEM270transmembrane protein 270 | Kartais (5–29%) | 1 ligoje |
| TRAF7TNF receptor associated factor 7 | Kartais (5–29%) | 1 ligoje |
| VAMP7vesicle associated membrane protein 7 | Kartais (5–29%) | 1 ligoje |
| VPS37DVPS37D subunit of ESCRT-I | Kartais (5–29%) | 1 ligoje |
| WT1WT1 transcription factor | Kartais (5–29%) | 1 ligoje |
| WWOXWW domain containing oxidoreductase | Kartais (5–29%) | 1 ligoje |
| XPAXPA, DNA damage recognition and repair factor | Kartais (5–29%) | 1 ligoje |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Kartais (5–29%) | 1 ligoje |
| ZEB2zinc finger E-box binding homeobox 2 | Kartais (5–29%) | 2 ligose |
| ZFPM2zinc finger protein, FOG family member 2 | Kartais (5–29%) | 1 ligoje |
| ZFXzinc finger protein X-linked | Kartais (5–29%) | 1 ligoje |
| ZNF699zinc finger protein 699 | Kartais (5–29%) | 1 ligoje |
| ACVR1activin A receptor type 1 | Retai (1–4 %) | 1 ligoje |
| CTNScystinosin, lysosomal cystine transporter | Retai (1–4 %) | 2 ligose |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Retai (1–4 %) | 1 ligoje |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Retai (1–4 %) | 1 ligoje |
| ACANaggrecan | Neužfiksuota | 1 ligoje |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Neužfiksuota | 1 ligoje |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Neužfiksuota | 2 ligose |
| ATRXATRX chromatin remodeler | Neužfiksuota | 1 ligoje |
| BMP2bone morphogenetic protein 2 | Neužfiksuota | 1 ligoje |
| CCBE1collagen and calcium binding EGF domains 1 | Neužfiksuota | 1 ligoje |
| CD96CD96 molecule | Neužfiksuota | 1 ligoje |
| DVL1dishevelled segment polarity protein 1 | Neužfiksuota | 1 ligoje |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Neužfiksuota | 1 ligoje |
| EP300EP300 lysine acetyltransferase | Neužfiksuota | 1 ligoje |
| FGFRL1fibroblast growth factor receptor like 1 | Neužfiksuota | 1 ligoje |
| GH1growth hormone 1 | Neužfiksuota | 2 ligose |
| GHRHRgrowth hormone releasing hormone receptor | Neužfiksuota | 1 ligoje |
| GJA1gap junction protein alpha 1 | Neužfiksuota | 1 ligoje |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Neužfiksuota | 1 ligoje |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Neužfiksuota | 1 ligoje |
| IFT57intraflagellar transport 57 | Neužfiksuota | 1 ligoje |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Neužfiksuota | 1 ligoje |
| LGR4leucine rich repeat containing G protein-coupled receptor 4 | Neužfiksuota | 1 ligoje |
| MAP2K1mitogen-activated protein kinase kinase 1 | Neužfiksuota | 1 ligoje |
| MAP2K2mitogen-activated protein kinase kinase 2 | Neužfiksuota | 1 ligoje |
| PAM16presequence translocase associated motor 16 | Neužfiksuota | 1 ligoje |
| PAX8paired box 8 | Neužfiksuota | 1 ligoje |
| PCGF2polycomb group ring finger 2 | Neužfiksuota | 1 ligoje |
| POP1POP1 ribonuclease P/MRP subunit | Neužfiksuota | 1 ligoje |
| ROR2ROR family WNT receptor 2 | Neužfiksuota | 1 ligoje |
| SLC25A24solute carrier family 25 member 24 | Neužfiksuota | 1 ligoje |
| SOHLH1spermatogenesis and oogenesis specific basic helix-loop-helix 1 | Neužfiksuota | 1 ligoje |
| SRP54signal recognition particle 54 | Neužfiksuota | 1 ligoje |
| STAT5Bsignal transducer and activator of transcription 5B | Neužfiksuota | 1 ligoje |
| THRAthyroid hormone receptor alpha | Neužfiksuota | 1 ligoje |
| TONSLtonsoku like, DNA repair protein | Neužfiksuota | 1 ligoje |
| WNT5AWnt family member 5A | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
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- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.16-c6eea6bf.
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