Træk
Delayed bone maturation
Klinisk navn: 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.
Resumé
- Også kaldet
- Delayed skeletal development, Delayed bone age, Delayed bone age before puberty
- Kropssystem
- Abnormality of the musculoskeletal system
ReferencegenomGRCh38hg38
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Ændringer i disse gener forårsager sjældne tilstande, hvor Delayed bone maturation ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ANKRD11ankyrin repeat domain 11 | Altid | I 2 tilstande |
| BMPR1Bbone morphogenetic protein receptor type 1B | Altid | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Altid | I 3 tilstande |
| BRD4bromodomain containing 4 | Altid | I 2 tilstande |
| BTKBruton tyrosine kinase | Altid | I 1 tilstand |
| CDC6cell division cycle 6 | Altid | I 2 tilstande |
| CEP57centrosomal protein 57 | Altid | I 1 tilstand |
| CILK1ciliogenesis associated kinase 1 | Altid | I 1 tilstand |
| COX4I1cytochrome c oxidase subunit 4I1 | Altid | I 1 tilstand |
| CUL7cullin 7 | Altid | I 2 tilstande |
| CYP19A1cytochrome P450 family 19 subfamily A member 1 | Altid | I 2 tilstande |
| DNA2DNA replication helicase/nuclease 2 | Altid | I 2 tilstande |
| DONSONDNA replication fork stabilization factor DONSON | Altid | I 2 tilstande |
| ERI1exoribonuclease 1 | Altid | I 1 tilstand |
| ESR1estrogen receptor 1 | Altid | I 1 tilstand |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Altid | I 1 tilstand |
| FBN1fibrillin 1 | Altid | I 6 tilstande |
| FOXE1forkhead box E1 | Altid | I 1 tilstand |
| GET4guided entry of tail-anchored proteins factor 4 | Altid | I 1 tilstand |
| GHRgrowth hormone receptor | Altid | I 3 tilstande |
| GLI2GLI family zinc finger 2 | Altid | I 2 tilstande |
| GMNNgeminin DNA replication inhibitor | Altid | I 2 tilstande |
| HMGA2high mobility group AT-hook 2 | Altid | I 1 tilstand |
| IGF1insulin like growth factor 1 | Altid | I 2 tilstande |
| ITCHitchy E3 ubiquitin protein ligase | Altid | I 1 tilstand |
| KARS1lysyl-tRNA synthetase 1 | Altid | I 1 tilstand |
| LPIN2lipin 2 | Altid | I 1 tilstand |
| MALT1MALT1 paracaspase | Altid | I 1 tilstand |
| MCM9minichromosome maintenance 9 homologous recombination repair factor | Altid | I 1 tilstand |
| MSMO1methylsterol monooxygenase 1 | Altid | I 1 tilstand |
| NINninein | Altid | I 3 tilstande |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Altid | I 1 tilstand |
| OBSL1obscurin like cytoskeletal adaptor 1 | Altid | I 2 tilstande |
| ORC1origin recognition complex subunit 1 | Altid | I 2 tilstande |
| ORC4origin recognition complex subunit 4 | Altid | I 2 tilstande |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Altid | I 1 tilstand |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Altid | I 2 tilstande |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Altid | I 1 tilstand |
| PNPLA6patatin like domain 6, lysophospholipase | Altid | I 2 tilstande |
| PPOXprotoporphyrinogen oxidase | Altid | I 1 tilstand |
Vis 327 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Altid | I 2 tilstande |
| PRKG2protein kinase cGMP-dependent 2 | Altid | I 1 tilstand |
| PTDSS1phosphatidylserine synthase 1 | Altid | I 2 tilstande |
| RBSNrabenosyn, RAB effector | Altid | I 2 tilstande |
| RNPC3RNA binding region (RNP1, RRM) containing 3 | Altid | I 1 tilstand |
| RSPRY1ring finger and SPRY domain containing 1 | Altid | I 2 tilstande |
| SLC30A7solute carrier family 30 member 7 | Altid | I 1 tilstand |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Altid | I 2 tilstande |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Altid | I 2 tilstande |
| SPIDRscaffold protein involved in DNA repair | Altid | I 2 tilstande |
| SPRTNSprT-like N-terminal domain | Altid | I 1 tilstand |
| TAF13TATA-box binding protein associated factor 13 | Altid | I 1 tilstand |
| TAF4TATA-box binding protein associated factor 4 | Altid | I 1 tilstand |
| TBCKTBC1 domain containing kinase | Altid | I 2 tilstande |
| TMEM67transmembrane protein 67 | Altid | I 2 tilstande |
| UFSP2UFM1 specific peptidase 2 | Altid | I 1 tilstand |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Altid | I 1 tilstand |
| ADAMTSL2ADAMTS like 2 | Meget ofte (80–99 %) | I 2 tilstande |
| AHSGalpha 2-HS glycoprotein | Meget ofte (80–99 %) | I 1 tilstand |
| ANTXR1ANTXR cell adhesion molecule 1 | Meget ofte (80–99 %) | I 2 tilstande |
| ATRATR checkpoint kinase | Meget ofte (80–99 %) | I 2 tilstande |
| ATRIPATR interacting protein | Meget ofte (80–99 %) | I 1 tilstand |
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Meget ofte (80–99 %) | I 1 tilstand |
| CDC45cell division cycle 45 | Meget ofte (80–99 %) | I 1 tilstand |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Meget ofte (80–99 %) | I 1 tilstand |
| CDT1chromatin licensing and DNA replication factor 1 | Meget ofte (80–99 %) | I 2 tilstande |
| CENPEcentromere protein E | Meget ofte (80–99 %) | I 1 tilstand |
| CEP152centrosomal protein 152 | Meget ofte (80–99 %) | I 2 tilstande |
| CEP295centrosomal protein 295 | Meget ofte (80–99 %) | I 1 tilstand |
| CEP63centrosomal protein 63 | Meget ofte (80–99 %) | I 1 tilstand |
| CHD7chromodomain helicase DNA binding protein 7 | Meget ofte (80–99 %) | I 2 tilstande |
| COL2A1collagen type II alpha 1 chain | Meget ofte (80–99 %) | I 3 tilstande |
| CPAPcentrosome assembly and centriole elongation protein | Meget ofte (80–99 %) | I 1 tilstand |
| CYB5Acytochrome b5 type A | Meget ofte (80–99 %) | I 1 tilstand |
| CYP11A1cytochrome P450 family 11 subfamily A member 1 | Meget ofte (80–99 %) | I 2 tilstande |
| CYP17A1cytochrome P450 family 17 subfamily A member 1 | Meget ofte (80–99 %) | I 2 tilstande |
| DCAF17DDB1 and CUL4 associated factor 17 | Meget ofte (80–99 %) | I 1 tilstand |
| DUSP6dual specificity phosphatase 6 | Meget ofte (80–99 %) | I 2 tilstande |
| EMX2empty spiracles homeobox 2 | Meget ofte (80–99 %) | I 2 tilstande |
| EXT1exostosin glycosyltransferase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| FGF17fibroblast growth factor 17 | Meget ofte (80–99 %) | I 2 tilstande |
| FGF8fibroblast growth factor 8 | Meget ofte (80–99 %) | I 3 tilstande |
| FGFR1fibroblast growth factor receptor 1 | Meget ofte (80–99 %) | I 3 tilstande |
| FSHBfollicle stimulating hormone subunit beta | Meget ofte (80–99 %) | I 2 tilstande |
| GBA1glucosylceramidase beta 1 | Meget ofte (80–99 %) | I 2 tilstande |
| GHSRgrowth hormone secretagogue receptor | Meget ofte (80–99 %) | I 2 tilstande |
| GNRH1gonadotropin releasing hormone 1 | Meget ofte (80–99 %) | I 1 tilstand |
| GNRHRgonadotropin releasing hormone receptor | Meget ofte (80–99 %) | I 1 tilstand |
| GPX4glutathione peroxidase 4 | Meget ofte (80–99 %) | I 1 tilstand |
| GRB10growth factor receptor bound protein 10 | Meget ofte (80–99 %) | I 1 tilstand |
| H19H19 imprinted maternally expressed transcript | Meget ofte (80–99 %) | I 2 tilstande |
| HDAC8histone deacetylase 8 | Meget ofte (80–99 %) | I 1 tilstand |
| HRASHRas proto-oncogene, GTPase | Meget ofte (80–99 %) | I 1 tilstand |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Meget ofte (80–99 %) | I 2 tilstande |
| IGF1Rinsulin like growth factor 1 receptor | Meget ofte (80–99 %) | I 2 tilstande |
| IGF2insulin like growth factor 2 | Meget ofte (80–99 %) | I 4 tilstande |
| IHHIndian hedgehog signaling molecule | Meget ofte (80–99 %) | I 1 tilstand |
| INPPL1inositol polyphosphate phosphatase like 1 | Meget ofte (80–99 %) | I 1 tilstand |
| ITGB6integrin subunit beta 6 | Meget ofte (80–99 %) | I 1 tilstand |
| KISS1KiSS-1 metastasis suppressor | Meget ofte (80–99 %) | I 2 tilstande |
| KISS1RKISS1 receptor | Meget ofte (80–99 %) | I 2 tilstande |
| LONP1lon peptidase 1, mitochondrial | Meget ofte (80–99 %) | I 2 tilstande |
| LSSlanosterol synthase | Meget ofte (80–99 %) | I 1 tilstand |
| MAU2MAU2 sister chromatid cohesion factor | Meget ofte (80–99 %) | I 2 tilstande |
| MECP2methyl-CpG binding protein 2 | Meget ofte (80–99 %) | I 1 tilstand |
| MMP13matrix metallopeptidase 13 | Meget ofte (80–99 %) | I 2 tilstande |
| MVKmevalonate kinase | Meget ofte (80–99 %) | I 1 tilstand |
| NEU1neuraminidase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| NHLH2nescient helix-loop-helix 2 | Meget ofte (80–99 %) | I 1 tilstand |
| NIPBLNIPBL cohesin loading factor | Meget ofte (80–99 %) | I 2 tilstande |
| NSMCE2NSE2 SUMO ligase component of SMC5/6 complex | Meget ofte (80–99 %) | I 1 tilstand |
| NSMFNMDA receptor synaptonuclear signaling and neuronal migration factor | Meget ofte (80–99 %) | I 1 tilstand |
| NUP85nucleoporin 85 | Meget ofte (80–99 %) | I 1 tilstand |
| ORC6origin recognition complex subunit 6 | Meget ofte (80–99 %) | I 2 tilstande |
| PCNTpericentrin | Meget ofte (80–99 %) | I 3 tilstande |
| PLK4polo like kinase 4 | Meget ofte (80–99 %) | I 1 tilstand |
| POLA1DNA polymerase alpha 1, catalytic subunit | Meget ofte (80–99 %) | I 1 tilstand |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Meget ofte (80–99 %) | I 2 tilstande |
| PROK2prokineticin 2 | Meget ofte (80–99 %) | I 2 tilstande |
| PROKR2prokineticin receptor 2 | Meget ofte (80–99 %) | I 2 tilstande |
| RAD21RAD21 cohesin complex component | Meget ofte (80–99 %) | I 2 tilstande |
| RBBP8RB binding protein 8, endonuclease | Meget ofte (80–99 %) | I 1 tilstand |
| RNU12RNA, U12 small nuclear | Meget ofte (80–99 %) | I 1 tilstand |
| RNU4ATACRNA, U4atac small nuclear | Meget ofte (80–99 %) | I 3 tilstande |
| RPS6KA3ribosomal protein S6 kinase A3 | Meget ofte (80–99 %) | I 2 tilstande |
| SCARB2scavenger receptor class B member 2 | Meget ofte (80–99 %) | I 1 tilstand |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Meget ofte (80–99 %) | I 1 tilstand |
| SMC1Astructural maintenance of chromosomes 1A | Meget ofte (80–99 %) | I 1 tilstand |
| SMC3structural maintenance of chromosomes 3 | Meget ofte (80–99 %) | I 1 tilstand |
| SPRY4sprouty RTK signaling antagonist 4 | Meget ofte (80–99 %) | I 2 tilstande |
| SRCAPSnf2 related CREBBP activator protein | Meget ofte (80–99 %) | I 2 tilstande |
| STAT1signal transducer and activator of transcription 1 | Meget ofte (80–99 %) | I 1 tilstand |
| TAC3tachykinin precursor 3 | Meget ofte (80–99 %) | I 1 tilstand |
| TACR3tachykinin receptor 3 | Meget ofte (80–99 %) | I 2 tilstande |
| TBC1D7TBC1 domain family member 7 | Meget ofte (80–99 %) | I 1 tilstand |
| TBCEtubulin folding cofactor E | Meget ofte (80–99 %) | I 4 tilstande |
| TRAIPTRAF interacting protein | Meget ofte (80–99 %) | I 1 tilstand |
| TRPS1transcriptional repressor GATA binding 1 | Meget ofte (80–99 %) | I 3 tilstande |
| WDR11WD repeat domain 11 | Meget ofte (80–99 %) | I 3 tilstande |
| ABCC9ATP binding cassette subfamily C member 9 | Ofte (30–79 %) | I 2 tilstande |
| ABCD4ATP binding cassette subfamily D member 4 | Ofte (30–79 %) | I 1 tilstand |
| ARID1AAT-rich interaction domain 1A | Ofte (30–79 %) | I 2 tilstande |
| ARID1BAT-rich interaction domain 1B | Ofte (30–79 %) | I 2 tilstande |
| ARID2AT-rich interaction domain 2 | Ofte (30–79 %) | I 2 tilstande |
| BMP15bone morphogenetic protein 15 | Ofte (30–79 %) | I 1 tilstand |
| BNC1basonuclin zinc finger protein 1 | Ofte (30–79 %) | I 1 tilstand |
| BRF1BRF1 general transcription factor IIIB subunit | Ofte (30–79 %) | I 2 tilstande |
| CBLCbl proto-oncogene | Ofte (30–79 %) | I 1 tilstand |
| CDK4cyclin dependent kinase 4 | Ofte (30–79 %) | I 1 tilstand |
| CHP1calcineurin like EF-hand protein 1 | Ofte (30–79 %) | I 1 tilstand |
| CKAP2Lcytoskeleton associated protein 2L | Ofte (30–79 %) | I 1 tilstand |
| COX4I2cytochrome c oxidase subunit 4I2 | Ofte (30–79 %) | I 1 tilstand |
| CPLX1complexin 1 | Ofte (30–79 %) | I 2 tilstande |
| CREBBPCREB binding lysine acetyltransferase | Ofte (30–79 %) | I 2 tilstande |
| CTBP1C-terminal binding protein 1 | Ofte (30–79 %) | I 2 tilstande |
| DCCDCC netrin 1 receptor | Ofte (30–79 %) | I 2 tilstande |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Ofte (30–79 %) | I 2 tilstande |
| DPF2double PHD fingers 2 | Ofte (30–79 %) | I 1 tilstand |
| EFL1elongation factor like GTPase 1 | Ofte (30–79 %) | I 1 tilstand |
| FAM111AFAM111 trypsin like peptidase A | Ofte (30–79 %) | I 1 tilstand |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| FIGLAfolliculogenesis specific bHLH transcription factor | Ofte (30–79 %) | I 1 tilstand |
| FMR1fragile X messenger ribonucleoprotein 1 | Ofte (30–79 %) | I 1 tilstand |
| FSHRfollicle stimulating hormone receptor | Ofte (30–79 %) | I 1 tilstand |
| GDF5growth differentiation factor 5 | Ofte (30–79 %) | I 2 tilstande |
| GINS3GINS complex subunit 3 | Ofte (30–79 %) | I 1 tilstand |
| GTF2E2general transcription factor IIE subunit 2 | Ofte (30–79 %) | I 2 tilstande |
| KCNJ8potassium inwardly rectifying channel subfamily J member 8 | Ofte (30–79 %) | I 1 tilstand |
| KMT2Alysine methyltransferase 2A | Ofte (30–79 %) | I 2 tilstande |
| KRASKRas proto-oncogene, GTPase | Ofte (30–79 %) | I 3 tilstande |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Ofte (30–79 %) | I 2 tilstande |
| LTBP3latent transforming growth factor beta binding protein 3 | Ofte (30–79 %) | I 4 tilstande |
| LZTR1leucine zipper like post translational regulator 1 | Ofte (30–79 %) | I 1 tilstand |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Ofte (30–79 %) | I 1 tilstand |
| MRASmuscle RAS oncogene homolog | Ofte (30–79 %) | I 1 tilstand |
| MRPS22mitochondrial ribosomal protein S22 | Ofte (30–79 %) | I 2 tilstande |
| MSH4mutS homolog 4 | Ofte (30–79 %) | I 1 tilstand |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Ofte (30–79 %) | I 2 tilstande |
| NBASNBAS subunit of NRZ tethering complex | Ofte (30–79 %) | I 1 tilstand |
| NELFAnegative elongation factor complex member A | Ofte (30–79 %) | I 1 tilstand |
| NFE2L2NFE2 like bZIP transcription factor 2 | Ofte (30–79 %) | I 1 tilstand |
| NR5A1nuclear receptor subfamily 5 group A member 1 | Ofte (30–79 %) | I 2 tilstande |
| NRASNRAS proto-oncogene, GTPase | Ofte (30–79 %) | I 1 tilstand |
| NSD1nuclear receptor binding SET domain protein 1 | Ofte (30–79 %) | I 1 tilstand |
| NSD2nuclear receptor binding SET domain protein 2 | Ofte (30–79 %) | I 2 tilstande |
| NUP107nucleoporin 107 | Ofte (30–79 %) | I 1 tilstand |
| PDGFRBplatelet derived growth factor receptor beta | Ofte (30–79 %) | I 1 tilstand |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Ofte (30–79 %) | I 1 tilstand |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Ofte (30–79 %) | I 2 tilstande |
| POLR3HRNA polymerase III subunit H | Ofte (30–79 %) | I 1 tilstand |
| POU3F4POU class 3 homeobox 4 | Ofte (30–79 %) | I 1 tilstand |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Ofte (30–79 %) | I 1 tilstand |
| PSMC3IPPSMC3 interacting protein | Ofte (30–79 %) | I 1 tilstand |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Ofte (30–79 %) | I 1 tilstand |
| QRICH1glutamine rich 1 | Ofte (30–79 %) | I 1 tilstand |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Ofte (30–79 %) | I 1 tilstand |
| RASA2RAS p21 protein activator 2 | Ofte (30–79 %) | I 1 tilstand |
| RBM28RNA binding motif protein 28 | Ofte (30–79 %) | I 1 tilstand |
| RIT1Ras like without CAAX 1 | Ofte (30–79 %) | I 1 tilstand |
| RNF13ring finger protein 13 | Ofte (30–79 %) | I 2 tilstande |
| ROBO3roundabout guidance receptor 3 | Ofte (30–79 %) | I 1 tilstand |
| RRASRAS related | Ofte (30–79 %) | I 1 tilstand |
| RRAS2RAS related 2 | Ofte (30–79 %) | I 1 tilstand |
| SBDSSBDS ribosome maturation factor | Ofte (30–79 %) | I 2 tilstande |
| SECISBP2SECIS binding protein 2 | Ofte (30–79 %) | I 2 tilstande |
| SLC7A7solute carrier family 7 member 7 | Ofte (30–79 %) | I 2 tilstande |
| SMAD4SMAD family member 4 | Ofte (30–79 %) | I 1 tilstand |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Ofte (30–79 %) | I 3 tilstande |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Ofte (30–79 %) | I 2 tilstande |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Ofte (30–79 %) | I 1 tilstand |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Ofte (30–79 %) | I 1 tilstand |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Ofte (30–79 %) | I 1 tilstand |
| SMPD1sphingomyelin phosphodiesterase 1 | Ofte (30–79 %) | I 2 tilstande |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Ofte (30–79 %) | I 1 tilstand |
| SOX11SRY-box transcription factor 11 | Ofte (30–79 %) | I 1 tilstand |
| SOX4SRY-box transcription factor 4 | Ofte (30–79 %) | I 1 tilstand |
| SPRED2sprouty related EVH1 domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase | Ofte (30–79 %) | I 1 tilstand |
| THRBthyroid hormone receptor beta | Ofte (30–79 %) | I 1 tilstand |
| TP53tumor protein p53 | Ofte (30–79 %) | I 1 tilstand |
| TRHRthyrotropin releasing hormone receptor | Ofte (30–79 %) | I 2 tilstande |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Ofte (30–79 %) | I 2 tilstande |
| TSHBthyroid stimulating hormone subunit beta | Ofte (30–79 %) | I 1 tilstand |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | Ofte (30–79 %) | I 2 tilstande |
| ZSWIM7zinc finger SWIM-type containing 7 | Ofte (30–79 %) | I 1 tilstand |
| AARS1alanyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ADAMTS10ADAM metallopeptidase with thrombospondin type 1 motif 10 | Nogle gange (5–29 %) | I 1 tilstand |
| ADAMTS17ADAM metallopeptidase with thrombospondin type 1 motif 17 | Nogle gange (5–29 %) | I 1 tilstand |
| AGAaspartylglucosaminidase | Nogle gange (5–29 %) | I 2 tilstande |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| ANAPC1anaphase promoting complex subunit 1 | Nogle gange (5–29 %) | I 2 tilstande |
| ANKRD17ankyrin repeat domain 17 | Nogle gange (5–29 %) | I 1 tilstand |
| ANOS1anosmin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Nogle gange (5–29 %) | I 1 tilstand |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Nogle gange (5–29 %) | I 1 tilstand |
| CARS1cysteinyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CCDC141coiled-coil domain containing 141 | Nogle gange (5–29 %) | I 1 tilstand |
| CHST3carbohydrate sulfotransferase 3 | Nogle gange (5–29 %) | I 2 tilstande |
| CLIP2CAP-Gly domain containing linker protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| DBR1debranching RNA lariats 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DDB2damage specific DNA binding protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| DHX37DEAH-box helicase 37 | Nogle gange (5–29 %) | I 1 tilstand |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Nogle gange (5–29 %) | I 1 tilstand |
| DPP6dipeptidyl peptidase like 6 | Nogle gange (5–29 %) | I 1 tilstand |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Nogle gange (5–29 %) | I 1 tilstand |
| EIF4Heukaryotic translation initiation factor 4H | Nogle gange (5–29 %) | I 1 tilstand |
| ELNelastin | Nogle gange (5–29 %) | I 1 tilstand |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Nogle gange (5–29 %) | I 2 tilstande |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Nogle gange (5–29 %) | I 2 tilstande |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| ERCC5ERCC excision repair 5, endonuclease | Nogle gange (5–29 %) | I 1 tilstand |
| EVCEvC ciliary complex subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| EVC2EvC ciliary complex subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| EXTL3exostosin like glycosyltransferase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| FBXO11F-box protein 11 | Nogle gange (5–29 %) | I 1 tilstand |
| FEZF1FEZ family zinc finger 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Nogle gange (5–29 %) | I 1 tilstand |
| FLNBfilamin B | Nogle gange (5–29 %) | I 2 tilstande |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Nogle gange (5–29 %) | I 1 tilstand |
| FOXA2forkhead box A2 | Nogle gange (5–29 %) | I 1 tilstand |
| FOXP2forkhead box P2 | Nogle gange (5–29 %) | I 1 tilstand |
| GATA4GATA binding protein 4 | Nogle gange (5–29 %) | I 1 tilstand |
| GLI1GLI family zinc finger 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2H5general transcription factor IIH subunit 5 | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2Igeneral transcription factor IIi | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2IRD1GTF2I repeat domain containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2IRD2GTF2I repeat domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| HESX1HESX homeobox 1 | Nogle gange (5–29 %) | I 2 tilstande |
| HSPG2heparan sulfate proteoglycan 2 | Nogle gange (5–29 %) | I 2 tilstande |
| IL17RDinterleukin 17 receptor D | Nogle gange (5–29 %) | I 1 tilstand |
| INSRinsulin receptor | Nogle gange (5–29 %) | I 2 tilstande |
| KIF15kinesin family member 15 | Nogle gange (5–29 %) | I 1 tilstand |
| LHX4LIM homeobox 4 | Nogle gange (5–29 %) | I 1 tilstand |
| LIMK1LIM domain kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| LTBP2latent transforming growth factor beta binding protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MADDMAP kinase activating death domain | Nogle gange (5–29 %) | I 1 tilstand |
| MAP3K1mitogen-activated protein kinase kinase kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Nogle gange (5–29 %) | I 1 tilstand |
| METTL27methyltransferase like 27 | Nogle gange (5–29 %) | I 1 tilstand |
| MPLKIPM-phase specific PLK1 interacting protein | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MYH3myosin heavy chain 3 | Nogle gange (5–29 %) | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| NCF1neutrophil cytosolic factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NDNFneuron derived neurotrophic factor | Nogle gange (5–29 %) | I 1 tilstand |
| NGLY1N-glycanase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NPR2natriuretic peptide receptor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| NR0B1nuclear receptor subfamily 0 group B member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| OTX2orthodenticle homeobox 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PCSK1proprotein convertase subtilisin/kexin type 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PEX1peroxisomal biogenesis factor 1 | Nogle gange (5–29 %) | I 2 tilstande |
| PEX6peroxisomal biogenesis factor 6 | Nogle gange (5–29 %) | I 1 tilstand |
| POMCproopiomelanocortin | Nogle gange (5–29 %) | I 1 tilstand |
| POU1F1POU class 1 homeobox 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Nogle gange (5–29 %) | I 1 tilstand |
| PRKACAprotein kinase cAMP-activated catalytic subunit alpha | Nogle gange (5–29 %) | I 1 tilstand |
| PRKACBprotein kinase cAMP-activated catalytic subunit beta | Nogle gange (5–29 %) | I 1 tilstand |
| PROP1PROP paired-like homeobox 1 | Nogle gange (5–29 %) | I 2 tilstande |
| PTENphosphatase and tensin homolog | Nogle gange (5–29 %) | I 1 tilstand |
| RECQL4RecQ like helicase 4 | Nogle gange (5–29 %) | I 1 tilstand |
| RFC2replication factor C subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Nogle gange (5–29 %) | I 1 tilstand |
| RNF113Aring finger protein 113A | Nogle gange (5–29 %) | I 1 tilstand |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Nogle gange (5–29 %) | I 1 tilstand |
| SEMA3Asemaphorin 3A | Nogle gange (5–29 %) | I 1 tilstand |
| SIN3ASIN3 transcription regulator family member A | Nogle gange (5–29 %) | I 2 tilstande |
| SIN3BSIN3 transcription regulator family member B | Nogle gange (5–29 %) | I 1 tilstand |
| SLC29A3solute carrier family 29 member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SOX10SRY-box transcription factor 10 | Nogle gange (5–29 %) | I 1 tilstand |
| SOX3SRY-box transcription factor 3 | Nogle gange (5–29 %) | I 2 tilstande |
| SOX9SRY-box transcription factor 9 | Nogle gange (5–29 %) | I 1 tilstand |
| SRYsex determining region Y | Nogle gange (5–29 %) | I 2 tilstande |
| STX1Asyntaxin 1A | Nogle gange (5–29 %) | I 1 tilstand |
| TARS1threonyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TBL2transducin beta like 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM270transmembrane protein 270 | Nogle gange (5–29 %) | I 1 tilstand |
| TRAF7TNF receptor associated factor 7 | Nogle gange (5–29 %) | I 1 tilstand |
| VAMP7vesicle associated membrane protein 7 | Nogle gange (5–29 %) | I 1 tilstand |
| VPS37DVPS37D subunit of ESCRT-I | Nogle gange (5–29 %) | I 1 tilstand |
| WT1WT1 transcription factor | Nogle gange (5–29 %) | I 1 tilstand |
| WWOXWW domain containing oxidoreductase | Nogle gange (5–29 %) | I 1 tilstand |
| XPAXPA, DNA damage recognition and repair factor | Nogle gange (5–29 %) | I 1 tilstand |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Nogle gange (5–29 %) | I 1 tilstand |
| ZEB2zinc finger E-box binding homeobox 2 | Nogle gange (5–29 %) | I 2 tilstande |
| ZFPM2zinc finger protein, FOG family member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ZFXzinc finger protein X-linked | Nogle gange (5–29 %) | I 1 tilstand |
| ZNF699zinc finger protein 699 | Nogle gange (5–29 %) | I 1 tilstand |
| ACVR1activin A receptor type 1 | Sjældent (1–4%) | I 1 tilstand |
| CTNScystinosin, lysosomal cystine transporter | Sjældent (1–4%) | I 2 tilstande |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Sjældent (1–4%) | I 1 tilstand |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Sjældent (1–4%) | I 1 tilstand |
| ACANaggrecan | Ikke registreret | I 1 tilstand |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Ikke registreret | I 1 tilstand |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Ikke registreret | I 2 tilstande |
| ATRXATRX chromatin remodeler | Ikke registreret | I 1 tilstand |
| BMP2bone morphogenetic protein 2 | Ikke registreret | I 1 tilstand |
| CCBE1collagen and calcium binding EGF domains 1 | Ikke registreret | I 1 tilstand |
| CD96CD96 molecule | Ikke registreret | I 1 tilstand |
| DVL1dishevelled segment polarity protein 1 | Ikke registreret | I 1 tilstand |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Ikke registreret | I 1 tilstand |
| EP300EP300 lysine acetyltransferase | Ikke registreret | I 1 tilstand |
| FGFRL1fibroblast growth factor receptor like 1 | Ikke registreret | I 1 tilstand |
| GH1growth hormone 1 | Ikke registreret | I 2 tilstande |
| GHRHRgrowth hormone releasing hormone receptor | Ikke registreret | I 1 tilstand |
| GJA1gap junction protein alpha 1 | Ikke registreret | I 1 tilstand |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Ikke registreret | I 1 tilstand |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Ikke registreret | I 1 tilstand |
| IFT57intraflagellar transport 57 | Ikke registreret | I 1 tilstand |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Ikke registreret | I 1 tilstand |
| LGR4leucine rich repeat containing G protein-coupled receptor 4 | Ikke registreret | I 1 tilstand |
| MAP2K1mitogen-activated protein kinase kinase 1 | Ikke registreret | I 1 tilstand |
| MAP2K2mitogen-activated protein kinase kinase 2 | Ikke registreret | I 1 tilstand |
| PAM16presequence translocase associated motor 16 | Ikke registreret | I 1 tilstand |
| PAX8paired box 8 | Ikke registreret | I 1 tilstand |
| PCGF2polycomb group ring finger 2 | Ikke registreret | I 1 tilstand |
| POP1POP1 ribonuclease P/MRP subunit | Ikke registreret | I 1 tilstand |
| ROR2ROR family WNT receptor 2 | Ikke registreret | I 1 tilstand |
| SLC25A24solute carrier family 25 member 24 | Ikke registreret | I 1 tilstand |
| SOHLH1spermatogenesis and oogenesis specific basic helix-loop-helix 1 | Ikke registreret | I 1 tilstand |
| SRP54signal recognition particle 54 | Ikke registreret | I 1 tilstand |
| STAT5Bsignal transducer and activator of transcription 5B | Ikke registreret | I 1 tilstand |
| THRAthyroid hormone receptor alpha | Ikke registreret | I 1 tilstand |
| TONSLtonsoku like, DNA repair protein | Ikke registreret | I 1 tilstand |
| WNT5AWnt family member 5A | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
Snævrere træk
Bredere træk
Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger