Træk
Osteoporosis
Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).
Resumé
- Kropssystem
- Abnormality of the musculoskeletal system
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
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Bestil min Genome Test309 gener knyttet til Osteoporosis
Ændringer i disse gener forårsager sjældne tilstande, hvor Osteoporosis 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 |
|---|---|---|
| ALBalbumin | Altid | I 1 tilstand |
| ANTXR2ANTXR cell adhesion molecule 2 | Altid | I 2 tilstande |
| ARHGEF15Rho guanine nucleotide exchange factor 15 | Altid | I 1 tilstand |
| BANF1barrier to autointegration nuclear assembly factor 1 | Altid | I 1 tilstand |
| BMP1bone morphogenetic protein 1 | Altid | I 1 tilstand |
| ESR2estrogen receptor 2 | Altid | I 1 tilstand |
| FKBP10FKBP prolyl isomerase 10 | Altid | I 2 tilstande |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Altid | I 1 tilstand |
| KDELR2KDEL endoplasmic reticulum protein retention receptor 2 | Altid | I 1 tilstand |
| LIFRLIF receptor subunit alpha | Altid | I 2 tilstande |
| MALT1MALT1 paracaspase | Altid | I 1 tilstand |
| MIR2861microRNA 2861 | Altid | I 1 tilstand |
| PTBP1polypyrimidine tract binding protein 1 | Altid | I 1 tilstand |
| PYCR1pyrroline-5-carboxylate reductase 1 | Altid | I 2 tilstande |
| SC5Dsterol-C5-desaturase | Altid | I 1 tilstand |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Altid | I 1 tilstand |
| SLC37A4solute carrier family 37 member 4 | Altid | I 3 tilstande |
| SP7Sp7 transcription factor | Altid | I 1 tilstand |
| SPARCsecreted protein acidic and cysteine rich | Altid | I 1 tilstand |
| TGFBR2transforming growth factor beta receptor 2 | Altid | I 1 tilstand |
| TMEM165transmembrane protein 165 | Altid | I 1 tilstand |
| TMEM38Btransmembrane protein 38B | Altid | I 1 tilstand |
| TMEM67transmembrane protein 67 | Altid | I 1 tilstand |
| UNC13Aunc-13 homolog A | Altid | I 1 tilstand |
| WRNWRN RecQ like helicase | Altid | I 2 tilstande |
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Meget ofte (80–99 %) | I 1 tilstand |
| ADAMTSL2ADAMTS like 2 | Meget ofte (80–99 %) | I 1 tilstand |
| CBScystathionine beta-synthase | 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 1 tilstand |
| CYP19A1cytochrome P450 family 19 subfamily A member 1 | Meget ofte (80–99 %) | I 1 tilstand |
| DHX37DEAH-box helicase 37 | Meget ofte (80–99 %) | I 1 tilstand |
| DKK1dickkopf Wnt signaling pathway inhibitor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| ESR1estrogen receptor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| GATA4GATA binding protein 4 | Meget ofte (80–99 %) | I 1 tilstand |
| GBA1glucosylceramidase beta 1 | Meget ofte (80–99 %) | I 1 tilstand |
| GORABgolgin, RAB6 interacting | Meget ofte (80–99 %) | I 2 tilstande |
| HBBhemoglobin subunit beta | Meget ofte (80–99 %) | I 4 tilstande |
| IFT122intraflagellar transport 122 | Meget ofte (80–99 %) | I 2 tilstande |
Vis 269 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| IFT43intraflagellar transport 43 | Meget ofte (80–99 %) | I 1 tilstand |
| IFT52intraflagellar transport 52 | Meget ofte (80–99 %) | I 1 tilstand |
| LMNAlamin A/C | Meget ofte (80–99 %) | I 2 tilstande |
| LRP5LDL receptor related protein 5 | Meget ofte (80–99 %) | I 2 tilstande |
| MAP3K1mitogen-activated protein kinase kinase kinase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| MMP14matrix metallopeptidase 14 | Meget ofte (80–99 %) | I 1 tilstand |
| MMP2matrix metallopeptidase 2 | Meget ofte (80–99 %) | I 2 tilstande |
| NOTCH2notch receptor 2 | Meget ofte (80–99 %) | I 2 tilstande |
| NR0B1nuclear receptor subfamily 0 group B member 1 | Meget ofte (80–99 %) | I 1 tilstand |
| NR5A1nuclear receptor subfamily 5 group A member 1 | Meget ofte (80–99 %) | I 1 tilstand |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Meget ofte (80–99 %) | I 2 tilstande |
| PLOD2procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 | Meget ofte (80–99 %) | I 1 tilstand |
| RNU4ATACRNA, U4atac small nuclear | Meget ofte (80–99 %) | I 1 tilstand |
| SCARB2scavenger receptor class B member 2 | Meget ofte (80–99 %) | I 1 tilstand |
| SLC7A7solute carrier family 7 member 7 | Meget ofte (80–99 %) | I 2 tilstande |
| SOX9SRY-box transcription factor 9 | Meget ofte (80–99 %) | I 1 tilstand |
| SRYsex determining region Y | Meget ofte (80–99 %) | I 1 tilstand |
| TNFRSF11ATNF receptor superfamily member 11a | Meget ofte (80–99 %) | I 1 tilstand |
| TNFRSF11BTNF receptor superfamily member 11b | Meget ofte (80–99 %) | I 2 tilstande |
| VAMP7vesicle associated membrane protein 7 | Meget ofte (80–99 %) | I 1 tilstand |
| WDR19WD repeat domain 19 | Meget ofte (80–99 %) | I 1 tilstand |
| WDR35WD repeat domain 35 | Meget ofte (80–99 %) | I 1 tilstand |
| WNT1Wnt family member 1 | Meget ofte (80–99 %) | I 1 tilstand |
| WNT3AWnt family member 3A | Meget ofte (80–99 %) | I 1 tilstand |
| WT1WT1 transcription factor | Meget ofte (80–99 %) | I 1 tilstand |
| WWOXWW domain containing oxidoreductase | Meget ofte (80–99 %) | I 1 tilstand |
| XYLT2xylosyltransferase 2 | Meget ofte (80–99 %) | I 1 tilstand |
| ZFPM2zinc finger protein, FOG family member 2 | Meget ofte (80–99 %) | I 1 tilstand |
| ABCC9ATP binding cassette subfamily C member 9 | Ofte (30–79 %) | I 2 tilstande |
| AIPAHR interacting HSP90 co-chaperone | Ofte (30–79 %) | I 2 tilstande |
| ARMC5armadillo repeat containing 5 | Ofte (30–79 %) | I 2 tilstande |
| ASXL1ASXL transcriptional regulator 1 | Ofte (30–79 %) | I 2 tilstande |
| ATP6V0A1ATPase H+ transporting V0 subunit a1 | Ofte (30–79 %) | I 1 tilstand |
| ATP7AATPase copper transporting alpha | Ofte (30–79 %) | I 4 tilstande |
| ATP7BATPase copper transporting beta | Ofte (30–79 %) | I 2 tilstande |
| ATRXATRX chromatin remodeler | Ofte (30–79 %) | I 2 tilstande |
| B3GALT6beta-1,3-galactosyltransferase 6 | Ofte (30–79 %) | I 2 tilstande |
| BORCS8BLOC-1 related complex subunit 8 | Ofte (30–79 %) | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Ofte (30–79 %) | I 1 tilstand |
| CBLCbl proto-oncogene | Ofte (30–79 %) | I 1 tilstand |
| CDC73cell division cycle 73 | Ofte (30–79 %) | I 2 tilstande |
| CDH23cadherin related 23 | Ofte (30–79 %) | I 3 tilstande |
| CHD7chromodomain helicase DNA binding protein 7 | Ofte (30–79 %) | I 1 tilstand |
| COL2A1collagen type II alpha 1 chain | Ofte (30–79 %) | I 1 tilstand |
| CTDP1CTD phosphatase 1 | Ofte (30–79 %) | I 1 tilstand |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Ofte (30–79 %) | I 2 tilstande |
| DUSP6dual specificity phosphatase 6 | Ofte (30–79 %) | I 2 tilstande |
| ELNelastin | Ofte (30–79 %) | I 2 tilstande |
| EMX2empty spiracles homeobox 2 | Ofte (30–79 %) | I 1 tilstand |
| FGF17fibroblast growth factor 17 | Ofte (30–79 %) | I 2 tilstande |
| FGF8fibroblast growth factor 8 | Ofte (30–79 %) | I 1 tilstand |
| FGFR1fibroblast growth factor receptor 1 | Ofte (30–79 %) | I 1 tilstand |
| GNASGNAS complex locus | Ofte (30–79 %) | I 5 tilstande |
| GNRH1gonadotropin releasing hormone 1 | Ofte (30–79 %) | I 1 tilstand |
| GNRHRgonadotropin releasing hormone receptor | Ofte (30–79 %) | I 1 tilstand |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Ofte (30–79 %) | I 1 tilstand |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Ofte (30–79 %) | I 2 tilstande |
| HSPG2heparan sulfate proteoglycan 2 | Ofte (30–79 %) | I 2 tilstande |
| IGF1insulin like growth factor 1 | Ofte (30–79 %) | I 1 tilstand |
| KCNJ8potassium inwardly rectifying channel subfamily J member 8 | Ofte (30–79 %) | I 1 tilstand |
| KDM1Alysine demethylase 1A | Ofte (30–79 %) | I 1 tilstand |
| KISS1KiSS-1 metastasis suppressor | Ofte (30–79 %) | I 1 tilstand |
| KISS1RKISS1 receptor | Ofte (30–79 %) | I 1 tilstand |
| MEN1menin 1 | Ofte (30–79 %) | I 1 tilstand |
| MLXIPLMLX interacting protein like | Ofte (30–79 %) | I 1 tilstand |
| NGLY1N-glycanase 1 | Ofte (30–79 %) | I 1 tilstand |
| NHLH2nescient helix-loop-helix 2 | Ofte (30–79 %) | I 1 tilstand |
| NR3C1nuclear receptor subfamily 3 group C member 1 | Ofte (30–79 %) | I 1 tilstand |
| NSMFNMDA receptor synaptonuclear signaling and neuronal migration factor | Ofte (30–79 %) | I 2 tilstande |
| PMM2phosphomannomutase 2 | Ofte (30–79 %) | I 1 tilstand |
| POF1BPOF1B actin binding protein | Ofte (30–79 %) | I 1 tilstand |
| POLD1DNA polymerase delta 1, catalytic subunit | Ofte (30–79 %) | I 1 tilstand |
| POLGDNA polymerase gamma, catalytic subunit | Ofte (30–79 %) | I 2 tilstande |
| PPIBpeptidylprolyl isomerase B | Ofte (30–79 %) | I 1 tilstand |
| PRG4proteoglycan 4 | Ofte (30–79 %) | I 1 tilstand |
| PROK2prokineticin 2 | Ofte (30–79 %) | I 2 tilstande |
| PROKR2prokineticin receptor 2 | Ofte (30–79 %) | I 1 tilstand |
| PYGLglycogen phosphorylase L | Ofte (30–79 %) | I 1 tilstand |
| RIN2Ras and Rab interactor 2 | Ofte (30–79 %) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Ofte (30–79 %) | I 1 tilstand |
| RPL10ribosomal protein L10 | Ofte (30–79 %) | I 2 tilstande |
| RUNX1RUNX family transcription factor 1 | Ofte (30–79 %) | I 1 tilstand |
| RUNX2RUNX family transcription factor 2 | Ofte (30–79 %) | I 1 tilstand |
| SLC25A19solute carrier family 25 member 19 | Ofte (30–79 %) | I 1 tilstand |
| SMPD1sphingomyelin phosphodiesterase 1 | Ofte (30–79 %) | I 2 tilstande |
| SMSspermine synthase | Ofte (30–79 %) | I 2 tilstande |
| SPRY4sprouty RTK signaling antagonist 4 | Ofte (30–79 %) | I 1 tilstand |
| SRSF2serine and arginine rich splicing factor 2 | Ofte (30–79 %) | I 2 tilstande |
| STAT3signal transducer and activator of transcription 3 | Ofte (30–79 %) | I 1 tilstand |
| TAC3tachykinin precursor 3 | Ofte (30–79 %) | I 1 tilstand |
| TACR3tachykinin receptor 3 | Ofte (30–79 %) | I 1 tilstand |
| TBCKTBC1 domain containing kinase | Ofte (30–79 %) | I 2 tilstande |
| TERTtelomerase reverse transcriptase | Ofte (30–79 %) | I 3 tilstande |
| TET2tet methylcytosine dioxygenase 2 | Ofte (30–79 %) | I 2 tilstande |
| TP53tumor protein p53 | Ofte (30–79 %) | I 1 tilstand |
| TRMT10AtRNA methyltransferase 10A | Ofte (30–79 %) | I 1 tilstand |
| USP48ubiquitin specific peptidase 48 | Ofte (30–79 %) | I 1 tilstand |
| USP8ubiquitin specific peptidase 8 | Ofte (30–79 %) | I 2 tilstande |
| WDR11WD repeat domain 11 | Ofte (30–79 %) | I 1 tilstand |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Nogle gange (5–29 %) | I 1 tilstand |
| ADCY10adenylate cyclase 10 | Nogle gange (5–29 %) | I 1 tilstand |
| ANAPC1anaphase promoting complex subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ASAH1N-acylsphingosine amidohydrolase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ASXL2ASXL transcriptional regulator 2 | Nogle gange (5–29 %) | I 1 tilstand |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Nogle gange (5–29 %) | I 1 tilstand |
| BMP6bone morphogenetic protein 6 | Nogle gange (5–29 %) | I 1 tilstand |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Nogle gange (5–29 %) | I 1 tilstand |
| CLIP2CAP-Gly domain containing linker protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| COL7A1collagen type VII alpha 1 chain | Nogle gange (5–29 %) | I 1 tilstand |
| CPLX1complexin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CTBP1C-terminal binding protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CTC1CST telomere replication complex component 1 | Nogle gange (5–29 %) | I 2 tilstande |
| DKC1dyskerin pseudouridine synthase 1 | Nogle gange (5–29 %) | I 2 tilstande |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Nogle gange (5–29 %) | I 1 tilstand |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| EIF4Heukaryotic translation initiation factor 4H | Nogle gange (5–29 %) | I 1 tilstand |
| FAT4FAT atypical cadherin 4 | Nogle gange (5–29 %) | I 1 tilstand |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Nogle gange (5–29 %) | I 1 tilstand |
| GALTgalactose-1-phosphate uridylyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| GATA1GATA binding protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GGCXgamma-glutamyl carboxylase | Nogle gange (5–29 %) | I 1 tilstand |
| GPR35G protein-coupled receptor 35 | 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 |
| HAMPhepcidin antimicrobial peptide | Nogle gange (5–29 %) | I 1 tilstand |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| HFEhomeostatic iron regulator | Nogle gange (5–29 %) | I 3 tilstande |
| HJVhemojuvelin BMP co-receptor | Nogle gange (5–29 %) | I 1 tilstand |
| HPGD15-hydroxyprostaglandin dehydrogenase | Nogle gange (5–29 %) | I 2 tilstande |
| HSD3B7hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Nogle gange (5–29 %) | I 1 tilstand |
| IL12Ainterleukin 12A | Nogle gange (5–29 %) | I 1 tilstand |
| IL12RB1interleukin 12 receptor subunit beta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| IL17RDinterleukin 17 receptor D | Nogle gange (5–29 %) | I 1 tilstand |
| IRF5interferon regulatory factor 5 | Nogle gange (5–29 %) | I 1 tilstand |
| KITKIT proto-oncogene, receptor tyrosine kinase | Nogle gange (5–29 %) | I 1 tilstand |
| LAMA3laminin subunit alpha 3 | Nogle gange (5–29 %) | I 1 tilstand |
| LAMB3laminin subunit beta 3 | Nogle gange (5–29 %) | I 1 tilstand |
| LAMC2laminin subunit gamma 2 | Nogle gange (5–29 %) | I 1 tilstand |
| LARS2leucyl-tRNA synthetase 2, mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| LIMK1LIM domain kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| LMX1BLIM homeobox transcription factor 1 beta | Nogle gange (5–29 %) | I 1 tilstand |
| MAGEL2MAGE family member L2 | Nogle gange (5–29 %) | I 5 tilstande |
| MED12mediator complex subunit 12 | Nogle gange (5–29 %) | I 1 tilstand |
| METTL27methyltransferase like 27 | Nogle gange (5–29 %) | I 1 tilstand |
| MKRN3makorin ring finger protein 3 | Nogle gange (5–29 %) | I 1 tilstand |
| MMEL1membrane metalloendopeptidase like 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MMP1matrix metallopeptidase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MST1macrophage stimulating 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Nogle gange (5–29 %) | I 1 tilstand |
| NCF1neutrophil cytosolic factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NDNnecdin, MAGE family member | Nogle gange (5–29 %) | I 3 tilstande |
| NELFAnegative elongation factor complex member A | Nogle gange (5–29 %) | I 1 tilstand |
| NF1neurofibromin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NFIXnuclear factor I X | Nogle gange (5–29 %) | I 1 tilstand |
| NHP2NHP2 ribonucleoprotein | Nogle gange (5–29 %) | I 2 tilstande |
| NOP10NOP10 ribonucleoprotein | Nogle gange (5–29 %) | I 2 tilstande |
| NPAP1nuclear pore associated protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NPM1nucleophosmin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NSD2nuclear receptor binding SET domain protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| OCA2OCA2 melanosomal transmembrane protein | Nogle gange (5–29 %) | I 3 tilstande |
| PARNpoly(A)-specific ribonuclease | Nogle gange (5–29 %) | I 1 tilstand |
| PDGFRBplatelet derived growth factor receptor beta | Nogle gange (5–29 %) | I 1 tilstand |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Nogle gange (5–29 %) | I 1 tilstand |
| POU2AF1POU class 2 homeobox associating factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PRDM5PR/SET domain 5 | Nogle gange (5–29 %) | I 1 tilstand |
| PRLRprolactin receptor | Nogle gange (5–29 %) | I 1 tilstand |
| PWAR1Prader Willi/Angelman region RNA 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RFC2replication factor C subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RNU7-1RNA, U7 small nuclear 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RTEL1regulator of telomere elongation helicase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SEMA4Dsemaphorin 4D | Nogle gange (5–29 %) | I 1 tilstand |
| SIM1SIM bHLH transcription factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC9A6solute carrier family 9 member A6 | Nogle gange (5–29 %) | I 1 tilstand |
| SLCO2A1solute carrier organic anion transporter family member 2A1 | Nogle gange (5–29 %) | I 1 tilstand |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Nogle gange (5–29 %) | I 1 tilstand |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Nogle gange (5–29 %) | I 1 tilstand |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Nogle gange (5–29 %) | I 3 tilstande |
| SPIBSpi-B transcription factor | Nogle gange (5–29 %) | I 1 tilstand |
| SRCSRC proto-oncogene, non-receptor tyrosine kinase | Nogle gange (5–29 %) | I 1 tilstand |
| STAT6signal transducer and activator of transcription 6 | Nogle gange (5–29 %) | I 1 tilstand |
| STX1Asyntaxin 1A | Nogle gange (5–29 %) | I 2 tilstande |
| TBL2transducin beta like 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TCF12transcription factor 12 | Nogle gange (5–29 %) | I 1 tilstand |
| TCF4transcription factor 4 | Nogle gange (5–29 %) | I 1 tilstand |
| TERCtelomerase RNA component | Nogle gange (5–29 %) | I 2 tilstande |
| TINF2TERF1 interacting nuclear factor 2 | Nogle gange (5–29 %) | I 3 tilstande |
| TMEM270transmembrane protein 270 | Nogle gange (5–29 %) | I 1 tilstand |
| TNFSF15TNF superfamily member 15 | Nogle gange (5–29 %) | I 1 tilstand |
| TNPO3transportin 3 | Nogle gange (5–29 %) | I 1 tilstand |
| TYMSthymidylate synthetase | Nogle gange (5–29 %) | I 1 tilstand |
| URODuroporphyrinogen decarboxylase | Nogle gange (5–29 %) | I 1 tilstand |
| UROSuroporphyrinogen III synthase | Nogle gange (5–29 %) | I 1 tilstand |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| VKORC1vitamin K epoxide reductase complex subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| VPS37DVPS37D subunit of ESCRT-I | Nogle gange (5–29 %) | I 1 tilstand |
| WRAP53WD repeat containing antisense to TP53 | Nogle gange (5–29 %) | I 1 tilstand |
| ZNF469zinc finger protein 469 | Nogle gange (5–29 %) | I 1 tilstand |
| CEACAM3CEA cell adhesion molecule 3 | Sjældent (1–4%) | I 1 tilstand |
| CEACAM6CEA cell adhesion molecule 6 | Sjældent (1–4%) | I 1 tilstand |
| CFTRCF transmembrane conductance regulator | Sjældent (1–4%) | I 1 tilstand |
| CLCA4chloride channel accessory 4 | Sjældent (1–4%) | I 1 tilstand |
| CTCFCCCTC-binding factor | Sjældent (1–4%) | I 1 tilstand |
| DCTN4dynactin subunit 4 | Sjældent (1–4%) | I 1 tilstand |
| EDNRAendothelin receptor type A | Sjældent (1–4%) | I 1 tilstand |
| GCLCglutamate-cysteine ligase catalytic subunit | Sjældent (1–4%) | I 1 tilstand |
| GSTM3glutathione S-transferase mu 3 | Sjældent (1–4%) | I 1 tilstand |
| HMOX1heme oxygenase 1 | Sjældent (1–4%) | I 1 tilstand |
| KCNN4potassium calcium-activated channel subfamily N member 4 | Sjældent (1–4%) | I 1 tilstand |
| MIFmacrophage migration inhibitory factor | Sjældent (1–4%) | I 1 tilstand |
| PHKA2phosphorylase kinase regulatory subunit alpha 2 | Sjældent (1–4%) | I 1 tilstand |
| PHKBphosphorylase kinase regulatory subunit beta | Sjældent (1–4%) | I 1 tilstand |
| PHKG2phosphorylase kinase catalytic subunit gamma 2 | Sjældent (1–4%) | I 1 tilstand |
| POLG2DNA polymerase gamma 2, accessory subunit | Sjældent (1–4%) | I 1 tilstand |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Sjældent (1–4%) | I 1 tilstand |
| SERPINA1serpin family A member 1 | Sjældent (1–4%) | I 1 tilstand |
| SLC11A1solute carrier family 11 member 1 | Sjældent (1–4%) | I 1 tilstand |
| SLC25A4solute carrier family 25 member 4 | Sjældent (1–4%) | I 1 tilstand |
| SLC26A9solute carrier family 26 member 9 | Sjældent (1–4%) | I 1 tilstand |
| SLC6A14solute carrier family 6 member 14 | Sjældent (1–4%) | I 1 tilstand |
| SLC9A3solute carrier family 9 member A3 | Sjældent (1–4%) | I 1 tilstand |
| SMAD3SMAD family member 3 | Sjældent (1–4%) | I 1 tilstand |
| TGFB1transforming growth factor beta 1 | Sjældent (1–4%) | I 1 tilstand |
| TWNKtwinkle mtDNA helicase | Sjældent (1–4%) | I 1 tilstand |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Ikke registreret | I 1 tilstand |
| BMP2bone morphogenetic protein 2 | Ikke registreret | I 1 tilstand |
| CALCRcalcitonin receptor | Ikke registreret | I 1 tilstand |
| CANT1calcium activated nucleotidase 1 | Ikke registreret | I 1 tilstand |
| CAVIN1caveolae associated protein 1 | Ikke registreret | I 1 tilstand |
| CCN6cellular communication network factor 6 | Ikke registreret | I 1 tilstand |
| CHST3carbohydrate sulfotransferase 3 | Ikke registreret | I 1 tilstand |
| COL1A1collagen type I alpha 1 chain | Ikke registreret | I 1 tilstand |
| COL1A2collagen type I alpha 2 chain | Ikke registreret | I 1 tilstand |
| EIF2AK3eukaryotic translation initiation factor 2 alpha kinase 3 | Ikke registreret | I 1 tilstand |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Ikke registreret | I 2 tilstande |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Ikke registreret | I 1 tilstand |
| FSHRfollicle stimulating hormone receptor | Ikke registreret | I 1 tilstand |
| G6PC1glucose-6-phosphatase catalytic subunit 1 | Ikke registreret | I 1 tilstand |
| GALNSgalactosamine (N-acetyl)-6-sulfatase | Ikke registreret | I 1 tilstand |
| GKglycerol kinase | Ikke registreret | I 1 tilstand |
| GLB1galactosidase beta 1 | Ikke registreret | I 1 tilstand |
| HLA-DQA1major histocompatibility complex, class II, DQ alpha 1 | Ikke registreret | I 1 tilstand |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Ikke registreret | I 1 tilstand |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Ikke registreret | I 1 tilstand |
| IFIH1interferon induced with helicase C domain 1 | Ikke registreret | I 1 tilstand |
| LRP6LDL receptor related protein 6 | Ikke registreret | I 1 tilstand |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Ikke registreret | I 1 tilstand |
| NHERF1NHERF family PDZ scaffold protein 1 | Ikke registreret | I 1 tilstand |
| PCCApropionyl-CoA carboxylase subunit alpha | Ikke registreret | I 1 tilstand |
| PCCBpropionyl-CoA carboxylase subunit beta | Ikke registreret | I 1 tilstand |
| PDE11Aphosphodiesterase 11A | Ikke registreret | I 1 tilstand |
| PDLIM4PDZ and LIM domain 4 | Ikke registreret | I 1 tilstand |
| PEX12peroxisomal biogenesis factor 12 | Ikke registreret | I 1 tilstand |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Ikke registreret | I 1 tilstand |
| PRKACAprotein kinase cAMP-activated catalytic subunit alpha | Ikke registreret | I 1 tilstand |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Ikke registreret | I 1 tilstand |
| PSTPIP1proline-serine-threonine phosphatase interacting protein 1 | Ikke registreret | I 1 tilstand |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Ikke registreret | I 1 tilstand |
| RECQL4RecQ like helicase 4 | Ikke registreret | I 1 tilstand |
| RPL11ribosomal protein L11 | Ikke registreret | I 1 tilstand |
| SGMS2sphingomyelin synthase 2 | Ikke registreret | I 1 tilstand |
| SH3PXD2BSH3 and PX domains 2B | Ikke registreret | I 1 tilstand |
| SLC34A1solute carrier family 34 member 1 | Ikke registreret | I 1 tilstand |
| TRIP11thyroid hormone receptor interactor 11 | Ikke registreret | I 1 tilstand |
| VPS53VPS53 subunit of GARP complex | Ikke registreret | I 1 tilstand |
| WNK3WNK lysine deficient protein kinase 3 | Ikke registreret | I 1 tilstand |
| ZBTB20zinc finger and BTB domain containing 20 | 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.
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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