Egenskap
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.
Sammendrag
- Også kalt
- Delayed skeletal development, Delayed bone age, Delayed bone age before puberty
- Kroppssystem
- Abnormality of the musculoskeletal system
ReferansegenomGRCh38hg38
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Endringer i disse genene forårsaker sjeldne tilstander der Delayed bone maturation forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ANKRD11ankyrin repeat domain 11 | Alltid | I 2 tilstander |
| BMPR1Bbone morphogenetic protein receptor type 1B | Alltid | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Alltid | I 3 tilstander |
| BRD4bromodomain containing 4 | Alltid | I 2 tilstander |
| BTKBruton tyrosine kinase | Alltid | I 1 tilstand |
| CDC6cell division cycle 6 | Alltid | I 2 tilstander |
| CEP57centrosomal protein 57 | Alltid | I 1 tilstand |
| CILK1ciliogenesis associated kinase 1 | Alltid | I 1 tilstand |
| COX4I1cytochrome c oxidase subunit 4I1 | Alltid | I 1 tilstand |
| CUL7cullin 7 | Alltid | I 2 tilstander |
| CYP19A1cytochrome P450 family 19 subfamily A member 1 | Alltid | I 2 tilstander |
| DNA2DNA replication helicase/nuclease 2 | Alltid | I 2 tilstander |
| DONSONDNA replication fork stabilization factor DONSON | Alltid | I 2 tilstander |
| ERI1exoribonuclease 1 | Alltid | I 1 tilstand |
| ESR1estrogen receptor 1 | Alltid | I 1 tilstand |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Alltid | I 1 tilstand |
| FBN1fibrillin 1 | Alltid | I 6 tilstander |
| FOXE1forkhead box E1 | Alltid | I 1 tilstand |
| GET4guided entry of tail-anchored proteins factor 4 | Alltid | I 1 tilstand |
| GHRgrowth hormone receptor | Alltid | I 3 tilstander |
| GLI2GLI family zinc finger 2 | Alltid | I 2 tilstander |
| GMNNgeminin DNA replication inhibitor | Alltid | I 2 tilstander |
| HMGA2high mobility group AT-hook 2 | Alltid | I 1 tilstand |
| IGF1insulin like growth factor 1 | Alltid | I 2 tilstander |
| ITCHitchy E3 ubiquitin protein ligase | Alltid | I 1 tilstand |
| KARS1lysyl-tRNA synthetase 1 | Alltid | I 1 tilstand |
| LPIN2lipin 2 | Alltid | I 1 tilstand |
| MALT1MALT1 paracaspase | Alltid | I 1 tilstand |
| MCM9minichromosome maintenance 9 homologous recombination repair factor | Alltid | I 1 tilstand |
| MSMO1methylsterol monooxygenase 1 | Alltid | I 1 tilstand |
| NINninein | Alltid | I 3 tilstander |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Alltid | I 1 tilstand |
| OBSL1obscurin like cytoskeletal adaptor 1 | Alltid | I 2 tilstander |
| ORC1origin recognition complex subunit 1 | Alltid | I 2 tilstander |
| ORC4origin recognition complex subunit 4 | Alltid | I 2 tilstander |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Alltid | I 1 tilstand |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Alltid | I 2 tilstander |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Alltid | I 1 tilstand |
| PNPLA6patatin like domain 6, lysophospholipase | Alltid | I 2 tilstander |
| PPOXprotoporphyrinogen oxidase | Alltid | I 1 tilstand |
Vis 327 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Alltid | I 2 tilstander |
| PRKG2protein kinase cGMP-dependent 2 | Alltid | I 1 tilstand |
| PTDSS1phosphatidylserine synthase 1 | Alltid | I 2 tilstander |
| RBSNrabenosyn, RAB effector | Alltid | I 2 tilstander |
| RNPC3RNA binding region (RNP1, RRM) containing 3 | Alltid | I 1 tilstand |
| RSPRY1ring finger and SPRY domain containing 1 | Alltid | I 2 tilstander |
| SLC30A7solute carrier family 30 member 7 | Alltid | I 1 tilstand |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Alltid | I 2 tilstander |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Alltid | I 2 tilstander |
| SPIDRscaffold protein involved in DNA repair | Alltid | I 2 tilstander |
| SPRTNSprT-like N-terminal domain | Alltid | I 1 tilstand |
| TAF13TATA-box binding protein associated factor 13 | Alltid | I 1 tilstand |
| TAF4TATA-box binding protein associated factor 4 | Alltid | I 1 tilstand |
| TBCKTBC1 domain containing kinase | Alltid | I 2 tilstander |
| TMEM67transmembrane protein 67 | Alltid | I 2 tilstander |
| UFSP2UFM1 specific peptidase 2 | Alltid | I 1 tilstand |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Alltid | I 1 tilstand |
| ADAMTSL2ADAMTS like 2 | Svært ofte (80–99 %) | I 2 tilstander |
| AHSGalpha 2-HS glycoprotein | Svært ofte (80–99 %) | I 1 tilstand |
| ANTXR1ANTXR cell adhesion molecule 1 | Svært ofte (80–99 %) | I 2 tilstander |
| ATRATR checkpoint kinase | Svært ofte (80–99 %) | I 2 tilstander |
| ATRIPATR interacting protein | Svært ofte (80–99 %) | I 1 tilstand |
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Svært ofte (80–99 %) | I 1 tilstand |
| CDC45cell division cycle 45 | Svært ofte (80–99 %) | I 1 tilstand |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Svært ofte (80–99 %) | I 1 tilstand |
| CDT1chromatin licensing and DNA replication factor 1 | Svært ofte (80–99 %) | I 2 tilstander |
| CENPEcentromere protein E | Svært ofte (80–99 %) | I 1 tilstand |
| CEP152centrosomal protein 152 | Svært ofte (80–99 %) | I 2 tilstander |
| CEP295centrosomal protein 295 | Svært ofte (80–99 %) | I 1 tilstand |
| CEP63centrosomal protein 63 | Svært ofte (80–99 %) | I 1 tilstand |
| CHD7chromodomain helicase DNA binding protein 7 | Svært ofte (80–99 %) | I 2 tilstander |
| COL2A1collagen type II alpha 1 chain | Svært ofte (80–99 %) | I 3 tilstander |
| CPAPcentrosome assembly and centriole elongation protein | Svært ofte (80–99 %) | I 1 tilstand |
| CYB5Acytochrome b5 type A | Svært ofte (80–99 %) | I 1 tilstand |
| CYP11A1cytochrome P450 family 11 subfamily A member 1 | Svært ofte (80–99 %) | I 2 tilstander |
| CYP17A1cytochrome P450 family 17 subfamily A member 1 | Svært ofte (80–99 %) | I 2 tilstander |
| DCAF17DDB1 and CUL4 associated factor 17 | Svært ofte (80–99 %) | I 1 tilstand |
| DUSP6dual specificity phosphatase 6 | Svært ofte (80–99 %) | I 2 tilstander |
| EMX2empty spiracles homeobox 2 | Svært ofte (80–99 %) | I 2 tilstander |
| EXT1exostosin glycosyltransferase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| FGF17fibroblast growth factor 17 | Svært ofte (80–99 %) | I 2 tilstander |
| FGF8fibroblast growth factor 8 | Svært ofte (80–99 %) | I 3 tilstander |
| FGFR1fibroblast growth factor receptor 1 | Svært ofte (80–99 %) | I 3 tilstander |
| FSHBfollicle stimulating hormone subunit beta | Svært ofte (80–99 %) | I 2 tilstander |
| GBA1glucosylceramidase beta 1 | Svært ofte (80–99 %) | I 2 tilstander |
| GHSRgrowth hormone secretagogue receptor | Svært ofte (80–99 %) | I 2 tilstander |
| GNRH1gonadotropin releasing hormone 1 | Svært ofte (80–99 %) | I 1 tilstand |
| GNRHRgonadotropin releasing hormone receptor | Svært ofte (80–99 %) | I 1 tilstand |
| GPX4glutathione peroxidase 4 | Svært ofte (80–99 %) | I 1 tilstand |
| GRB10growth factor receptor bound protein 10 | Svært ofte (80–99 %) | I 1 tilstand |
| H19H19 imprinted maternally expressed transcript | Svært ofte (80–99 %) | I 2 tilstander |
| HDAC8histone deacetylase 8 | Svært ofte (80–99 %) | I 1 tilstand |
| HRASHRas proto-oncogene, GTPase | Svært ofte (80–99 %) | I 1 tilstand |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Svært ofte (80–99 %) | I 2 tilstander |
| IGF1Rinsulin like growth factor 1 receptor | Svært ofte (80–99 %) | I 2 tilstander |
| IGF2insulin like growth factor 2 | Svært ofte (80–99 %) | I 4 tilstander |
| IHHIndian hedgehog signaling molecule | Svært ofte (80–99 %) | I 1 tilstand |
| INPPL1inositol polyphosphate phosphatase like 1 | Svært ofte (80–99 %) | I 1 tilstand |
| ITGB6integrin subunit beta 6 | Svært ofte (80–99 %) | I 1 tilstand |
| KISS1KiSS-1 metastasis suppressor | Svært ofte (80–99 %) | I 2 tilstander |
| KISS1RKISS1 receptor | Svært ofte (80–99 %) | I 2 tilstander |
| LONP1lon peptidase 1, mitochondrial | Svært ofte (80–99 %) | I 2 tilstander |
| LSSlanosterol synthase | Svært ofte (80–99 %) | I 1 tilstand |
| MAU2MAU2 sister chromatid cohesion factor | Svært ofte (80–99 %) | I 2 tilstander |
| MECP2methyl-CpG binding protein 2 | Svært ofte (80–99 %) | I 1 tilstand |
| MMP13matrix metallopeptidase 13 | Svært ofte (80–99 %) | I 2 tilstander |
| MVKmevalonate kinase | Svært ofte (80–99 %) | I 1 tilstand |
| NEU1neuraminidase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| NHLH2nescient helix-loop-helix 2 | Svært ofte (80–99 %) | I 1 tilstand |
| NIPBLNIPBL cohesin loading factor | Svært ofte (80–99 %) | I 2 tilstander |
| NSMCE2NSE2 SUMO ligase component of SMC5/6 complex | Svært ofte (80–99 %) | I 1 tilstand |
| NSMFNMDA receptor synaptonuclear signaling and neuronal migration factor | Svært ofte (80–99 %) | I 1 tilstand |
| NUP85nucleoporin 85 | Svært ofte (80–99 %) | I 1 tilstand |
| ORC6origin recognition complex subunit 6 | Svært ofte (80–99 %) | I 2 tilstander |
| PCNTpericentrin | Svært ofte (80–99 %) | I 3 tilstander |
| PLK4polo like kinase 4 | Svært ofte (80–99 %) | I 1 tilstand |
| POLA1DNA polymerase alpha 1, catalytic subunit | Svært ofte (80–99 %) | I 1 tilstand |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Svært ofte (80–99 %) | I 2 tilstander |
| PROK2prokineticin 2 | Svært ofte (80–99 %) | I 2 tilstander |
| PROKR2prokineticin receptor 2 | Svært ofte (80–99 %) | I 2 tilstander |
| RAD21RAD21 cohesin complex component | Svært ofte (80–99 %) | I 2 tilstander |
| RBBP8RB binding protein 8, endonuclease | Svært ofte (80–99 %) | I 1 tilstand |
| RNU12RNA, U12 small nuclear | Svært ofte (80–99 %) | I 1 tilstand |
| RNU4ATACRNA, U4atac small nuclear | Svært ofte (80–99 %) | I 3 tilstander |
| RPS6KA3ribosomal protein S6 kinase A3 | Svært ofte (80–99 %) | I 2 tilstander |
| SCARB2scavenger receptor class B member 2 | Svært ofte (80–99 %) | I 1 tilstand |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Svært ofte (80–99 %) | I 1 tilstand |
| SMC1Astructural maintenance of chromosomes 1A | Svært ofte (80–99 %) | I 1 tilstand |
| SMC3structural maintenance of chromosomes 3 | Svært ofte (80–99 %) | I 1 tilstand |
| SPRY4sprouty RTK signaling antagonist 4 | Svært ofte (80–99 %) | I 2 tilstander |
| SRCAPSnf2 related CREBBP activator protein | Svært ofte (80–99 %) | I 2 tilstander |
| STAT1signal transducer and activator of transcription 1 | Svært ofte (80–99 %) | I 1 tilstand |
| TAC3tachykinin precursor 3 | Svært ofte (80–99 %) | I 1 tilstand |
| TACR3tachykinin receptor 3 | Svært ofte (80–99 %) | I 2 tilstander |
| TBC1D7TBC1 domain family member 7 | Svært ofte (80–99 %) | I 1 tilstand |
| TBCEtubulin folding cofactor E | Svært ofte (80–99 %) | I 4 tilstander |
| TRAIPTRAF interacting protein | Svært ofte (80–99 %) | I 1 tilstand |
| TRPS1transcriptional repressor GATA binding 1 | Svært ofte (80–99 %) | I 3 tilstander |
| WDR11WD repeat domain 11 | Svært ofte (80–99 %) | I 3 tilstander |
| ABCC9ATP binding cassette subfamily C member 9 | Ofte (30–79 %) | I 2 tilstander |
| ABCD4ATP binding cassette subfamily D member 4 | Ofte (30–79 %) | I 1 tilstand |
| ARID1AAT-rich interaction domain 1A | Ofte (30–79 %) | I 2 tilstander |
| ARID1BAT-rich interaction domain 1B | Ofte (30–79 %) | I 2 tilstander |
| ARID2AT-rich interaction domain 2 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| CREBBPCREB binding lysine acetyltransferase | Ofte (30–79 %) | I 2 tilstander |
| CTBP1C-terminal binding protein 1 | Ofte (30–79 %) | I 2 tilstander |
| DCCDCC netrin 1 receptor | Ofte (30–79 %) | I 2 tilstander |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| GINS3GINS complex subunit 3 | Ofte (30–79 %) | I 1 tilstand |
| GTF2E2general transcription factor IIE subunit 2 | Ofte (30–79 %) | I 2 tilstander |
| KCNJ8potassium inwardly rectifying channel subfamily J member 8 | Ofte (30–79 %) | I 1 tilstand |
| KMT2Alysine methyltransferase 2A | Ofte (30–79 %) | I 2 tilstander |
| KRASKRas proto-oncogene, GTPase | Ofte (30–79 %) | I 3 tilstander |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Ofte (30–79 %) | I 2 tilstander |
| LTBP3latent transforming growth factor beta binding protein 3 | Ofte (30–79 %) | I 4 tilstander |
| 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 tilstander |
| MSH4mutS homolog 4 | Ofte (30–79 %) | I 1 tilstand |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| SECISBP2SECIS binding protein 2 | Ofte (30–79 %) | I 2 tilstander |
| SLC7A7solute carrier family 7 member 7 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Ofte (30–79 %) | I 2 tilstander |
| TSHBthyroid stimulating hormone subunit beta | Ofte (30–79 %) | I 1 tilstand |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | Ofte (30–79 %) | I 2 tilstander |
| ZSWIM7zinc finger SWIM-type containing 7 | Ofte (30–79 %) | I 1 tilstand |
| AARS1alanyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ADAMTS10ADAM metallopeptidase with thrombospondin type 1 motif 10 | Noen ganger (5–29 %) | I 1 tilstand |
| ADAMTS17ADAM metallopeptidase with thrombospondin type 1 motif 17 | Noen ganger (5–29 %) | I 1 tilstand |
| AGAaspartylglucosaminidase | Noen ganger (5–29 %) | I 2 tilstander |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| ANAPC1anaphase promoting complex subunit 1 | Noen ganger (5–29 %) | I 2 tilstander |
| ANKRD17ankyrin repeat domain 17 | Noen ganger (5–29 %) | I 1 tilstand |
| ANOS1anosmin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Noen ganger (5–29 %) | I 1 tilstand |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Noen ganger (5–29 %) | I 1 tilstand |
| CARS1cysteinyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CCDC141coiled-coil domain containing 141 | Noen ganger (5–29 %) | I 1 tilstand |
| CHST3carbohydrate sulfotransferase 3 | Noen ganger (5–29 %) | I 2 tilstander |
| CLIP2CAP-Gly domain containing linker protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| DBR1debranching RNA lariats 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DDB2damage specific DNA binding protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| DHX37DEAH-box helicase 37 | Noen ganger (5–29 %) | I 1 tilstand |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Noen ganger (5–29 %) | I 1 tilstand |
| DPP6dipeptidyl peptidase like 6 | Noen ganger (5–29 %) | I 1 tilstand |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Noen ganger (5–29 %) | I 1 tilstand |
| EIF4Heukaryotic translation initiation factor 4H | Noen ganger (5–29 %) | I 1 tilstand |
| ELNelastin | Noen ganger (5–29 %) | I 1 tilstand |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Noen ganger (5–29 %) | I 2 tilstander |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Noen ganger (5–29 %) | I 2 tilstander |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| ERCC5ERCC excision repair 5, endonuclease | Noen ganger (5–29 %) | I 1 tilstand |
| EVCEvC ciliary complex subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| EVC2EvC ciliary complex subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| EXTL3exostosin like glycosyltransferase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| FBXO11F-box protein 11 | Noen ganger (5–29 %) | I 1 tilstand |
| FEZF1FEZ family zinc finger 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Noen ganger (5–29 %) | I 1 tilstand |
| FLNBfilamin B | Noen ganger (5–29 %) | I 2 tilstander |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Noen ganger (5–29 %) | I 1 tilstand |
| FOXA2forkhead box A2 | Noen ganger (5–29 %) | I 1 tilstand |
| FOXP2forkhead box P2 | Noen ganger (5–29 %) | I 1 tilstand |
| GATA4GATA binding protein 4 | Noen ganger (5–29 %) | I 1 tilstand |
| GLI1GLI family zinc finger 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2H5general transcription factor IIH subunit 5 | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2Igeneral transcription factor IIi | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2IRD1GTF2I repeat domain containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2IRD2GTF2I repeat domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| HESX1HESX homeobox 1 | Noen ganger (5–29 %) | I 2 tilstander |
| HSPG2heparan sulfate proteoglycan 2 | Noen ganger (5–29 %) | I 2 tilstander |
| IL17RDinterleukin 17 receptor D | Noen ganger (5–29 %) | I 1 tilstand |
| INSRinsulin receptor | Noen ganger (5–29 %) | I 2 tilstander |
| KIF15kinesin family member 15 | Noen ganger (5–29 %) | I 1 tilstand |
| LHX4LIM homeobox 4 | Noen ganger (5–29 %) | I 1 tilstand |
| LIMK1LIM domain kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| LTBP2latent transforming growth factor beta binding protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MADDMAP kinase activating death domain | Noen ganger (5–29 %) | I 1 tilstand |
| MAP3K1mitogen-activated protein kinase kinase kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Noen ganger (5–29 %) | I 1 tilstand |
| METTL27methyltransferase like 27 | Noen ganger (5–29 %) | I 1 tilstand |
| MPLKIPM-phase specific PLK1 interacting protein | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MYH3myosin heavy chain 3 | Noen ganger (5–29 %) | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| NCF1neutrophil cytosolic factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NDNFneuron derived neurotrophic factor | Noen ganger (5–29 %) | I 1 tilstand |
| NGLY1N-glycanase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NPR2natriuretic peptide receptor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| NR0B1nuclear receptor subfamily 0 group B member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| OTX2orthodenticle homeobox 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PCSK1proprotein convertase subtilisin/kexin type 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PEX1peroxisomal biogenesis factor 1 | Noen ganger (5–29 %) | I 2 tilstander |
| PEX6peroxisomal biogenesis factor 6 | Noen ganger (5–29 %) | I 1 tilstand |
| POMCproopiomelanocortin | Noen ganger (5–29 %) | I 1 tilstand |
| POU1F1POU class 1 homeobox 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Noen ganger (5–29 %) | I 1 tilstand |
| PRKACAprotein kinase cAMP-activated catalytic subunit alpha | Noen ganger (5–29 %) | I 1 tilstand |
| PRKACBprotein kinase cAMP-activated catalytic subunit beta | Noen ganger (5–29 %) | I 1 tilstand |
| PROP1PROP paired-like homeobox 1 | Noen ganger (5–29 %) | I 2 tilstander |
| PTENphosphatase and tensin homolog | Noen ganger (5–29 %) | I 1 tilstand |
| RECQL4RecQ like helicase 4 | Noen ganger (5–29 %) | I 1 tilstand |
| RFC2replication factor C subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Noen ganger (5–29 %) | I 1 tilstand |
| RNF113Aring finger protein 113A | Noen ganger (5–29 %) | I 1 tilstand |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Noen ganger (5–29 %) | I 1 tilstand |
| SEMA3Asemaphorin 3A | Noen ganger (5–29 %) | I 1 tilstand |
| SIN3ASIN3 transcription regulator family member A | Noen ganger (5–29 %) | I 2 tilstander |
| SIN3BSIN3 transcription regulator family member B | Noen ganger (5–29 %) | I 1 tilstand |
| SLC29A3solute carrier family 29 member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SOX10SRY-box transcription factor 10 | Noen ganger (5–29 %) | I 1 tilstand |
| SOX3SRY-box transcription factor 3 | Noen ganger (5–29 %) | I 2 tilstander |
| SOX9SRY-box transcription factor 9 | Noen ganger (5–29 %) | I 1 tilstand |
| SRYsex determining region Y | Noen ganger (5–29 %) | I 2 tilstander |
| STX1Asyntaxin 1A | Noen ganger (5–29 %) | I 1 tilstand |
| TARS1threonyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TBL2transducin beta like 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM270transmembrane protein 270 | Noen ganger (5–29 %) | I 1 tilstand |
| TRAF7TNF receptor associated factor 7 | Noen ganger (5–29 %) | I 1 tilstand |
| VAMP7vesicle associated membrane protein 7 | Noen ganger (5–29 %) | I 1 tilstand |
| VPS37DVPS37D subunit of ESCRT-I | Noen ganger (5–29 %) | I 1 tilstand |
| WT1WT1 transcription factor | Noen ganger (5–29 %) | I 1 tilstand |
| WWOXWW domain containing oxidoreductase | Noen ganger (5–29 %) | I 1 tilstand |
| XPAXPA, DNA damage recognition and repair factor | Noen ganger (5–29 %) | I 1 tilstand |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Noen ganger (5–29 %) | I 1 tilstand |
| ZEB2zinc finger E-box binding homeobox 2 | Noen ganger (5–29 %) | I 2 tilstander |
| ZFPM2zinc finger protein, FOG family member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ZFXzinc finger protein X-linked | Noen ganger (5–29 %) | I 1 tilstand |
| ZNF699zinc finger protein 699 | Noen ganger (5–29 %) | I 1 tilstand |
| ACVR1activin A receptor type 1 | Sjelden (1–4%) | I 1 tilstand |
| CTNScystinosin, lysosomal cystine transporter | Sjelden (1–4%) | I 2 tilstander |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Sjelden (1–4%) | I 1 tilstand |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Sjelden (1–4%) | I 1 tilstand |
| ACANaggrecan | Ikke registrert | I 1 tilstand |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Ikke registrert | I 1 tilstand |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Ikke registrert | I 2 tilstander |
| ATRXATRX chromatin remodeler | Ikke registrert | I 1 tilstand |
| BMP2bone morphogenetic protein 2 | Ikke registrert | I 1 tilstand |
| CCBE1collagen and calcium binding EGF domains 1 | Ikke registrert | I 1 tilstand |
| CD96CD96 molecule | Ikke registrert | I 1 tilstand |
| DVL1dishevelled segment polarity protein 1 | Ikke registrert | I 1 tilstand |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Ikke registrert | I 1 tilstand |
| EP300EP300 lysine acetyltransferase | Ikke registrert | I 1 tilstand |
| FGFRL1fibroblast growth factor receptor like 1 | Ikke registrert | I 1 tilstand |
| GH1growth hormone 1 | Ikke registrert | I 2 tilstander |
| GHRHRgrowth hormone releasing hormone receptor | Ikke registrert | I 1 tilstand |
| GJA1gap junction protein alpha 1 | Ikke registrert | I 1 tilstand |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Ikke registrert | I 1 tilstand |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Ikke registrert | I 1 tilstand |
| IFT57intraflagellar transport 57 | Ikke registrert | I 1 tilstand |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Ikke registrert | I 1 tilstand |
| LGR4leucine rich repeat containing G protein-coupled receptor 4 | Ikke registrert | I 1 tilstand |
| MAP2K1mitogen-activated protein kinase kinase 1 | Ikke registrert | I 1 tilstand |
| MAP2K2mitogen-activated protein kinase kinase 2 | Ikke registrert | I 1 tilstand |
| PAM16presequence translocase associated motor 16 | Ikke registrert | I 1 tilstand |
| PAX8paired box 8 | Ikke registrert | I 1 tilstand |
| PCGF2polycomb group ring finger 2 | Ikke registrert | I 1 tilstand |
| POP1POP1 ribonuclease P/MRP subunit | Ikke registrert | I 1 tilstand |
| ROR2ROR family WNT receptor 2 | Ikke registrert | I 1 tilstand |
| SLC25A24solute carrier family 25 member 24 | Ikke registrert | I 1 tilstand |
| SOHLH1spermatogenesis and oogenesis specific basic helix-loop-helix 1 | Ikke registrert | I 1 tilstand |
| SRP54signal recognition particle 54 | Ikke registrert | I 1 tilstand |
| STAT5Bsignal transducer and activator of transcription 5B | Ikke registrert | I 1 tilstand |
| THRAthyroid hormone receptor alpha | Ikke registrert | I 1 tilstand |
| TONSLtonsoku like, DNA repair protein | Ikke registrert | I 1 tilstand |
| WNT5AWnt family member 5A | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Smalere egenskaper
Bredere egenskaper
Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.16-c6eea6bf.
Én test. En livstid med svar.
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