Egenskap
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).
Sammendrag
- Kroppssystem
- Abnormality of the musculoskeletal system
ReferansegenomGRCh38hg38
Posisjoner på gen- og variantsidene følger dette valget i denne nettleseren.
Read the genes linked to Osteoporosis, and the rest of your genome, with one test.
Fra 449 $Gratis frakt · Resultater på 6–8 uker
Få mitt Genome Test309 gener knyttet til Osteoporosis
Endringer i disse genene forårsaker sjeldne tilstander der Osteoporosis 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 |
|---|---|---|
| ALBalbumin | Alltid | I 1 tilstand |
| ANTXR2ANTXR cell adhesion molecule 2 | Alltid | I 2 tilstander |
| ARHGEF15Rho guanine nucleotide exchange factor 15 | Alltid | I 1 tilstand |
| BANF1barrier to autointegration nuclear assembly factor 1 | Alltid | I 1 tilstand |
| BMP1bone morphogenetic protein 1 | Alltid | I 1 tilstand |
| ESR2estrogen receptor 2 | Alltid | I 1 tilstand |
| FKBP10FKBP prolyl isomerase 10 | Alltid | I 2 tilstander |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Alltid | I 1 tilstand |
| KDELR2KDEL endoplasmic reticulum protein retention receptor 2 | Alltid | I 1 tilstand |
| LIFRLIF receptor subunit alpha | Alltid | I 2 tilstander |
| MALT1MALT1 paracaspase | Alltid | I 1 tilstand |
| MIR2861microRNA 2861 | Alltid | I 1 tilstand |
| PTBP1polypyrimidine tract binding protein 1 | Alltid | I 1 tilstand |
| PYCR1pyrroline-5-carboxylate reductase 1 | Alltid | I 2 tilstander |
| SC5Dsterol-C5-desaturase | Alltid | I 1 tilstand |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Alltid | I 1 tilstand |
| SLC37A4solute carrier family 37 member 4 | Alltid | I 3 tilstander |
| SP7Sp7 transcription factor | Alltid | I 1 tilstand |
| SPARCsecreted protein acidic and cysteine rich | Alltid | I 1 tilstand |
| TGFBR2transforming growth factor beta receptor 2 | Alltid | I 1 tilstand |
| TMEM165transmembrane protein 165 | Alltid | I 1 tilstand |
| TMEM38Btransmembrane protein 38B | Alltid | I 1 tilstand |
| TMEM67transmembrane protein 67 | Alltid | I 1 tilstand |
| UNC13Aunc-13 homolog A | Alltid | I 1 tilstand |
| WRNWRN RecQ like helicase | Alltid | I 2 tilstander |
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Svært ofte (80–99 %) | I 1 tilstand |
| ADAMTSL2ADAMTS like 2 | Svært ofte (80–99 %) | I 1 tilstand |
| CBScystathionine beta-synthase | 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 1 tilstand |
| CYP19A1cytochrome P450 family 19 subfamily A member 1 | Svært ofte (80–99 %) | I 1 tilstand |
| DHX37DEAH-box helicase 37 | Svært ofte (80–99 %) | I 1 tilstand |
| DKK1dickkopf Wnt signaling pathway inhibitor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| ESR1estrogen receptor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| GATA4GATA binding protein 4 | Svært ofte (80–99 %) | I 1 tilstand |
| GBA1glucosylceramidase beta 1 | Svært ofte (80–99 %) | I 1 tilstand |
| GORABgolgin, RAB6 interacting | Svært ofte (80–99 %) | I 2 tilstander |
| HBBhemoglobin subunit beta | Svært ofte (80–99 %) | I 4 tilstander |
| IFT122intraflagellar transport 122 | Svært ofte (80–99 %) | I 2 tilstander |
Vis 269 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| IFT43intraflagellar transport 43 | Svært ofte (80–99 %) | I 1 tilstand |
| IFT52intraflagellar transport 52 | Svært ofte (80–99 %) | I 1 tilstand |
| LMNAlamin A/C | Svært ofte (80–99 %) | I 2 tilstander |
| LRP5LDL receptor related protein 5 | Svært ofte (80–99 %) | I 2 tilstander |
| MAP3K1mitogen-activated protein kinase kinase kinase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| MMP14matrix metallopeptidase 14 | Svært ofte (80–99 %) | I 1 tilstand |
| MMP2matrix metallopeptidase 2 | Svært ofte (80–99 %) | I 2 tilstander |
| NOTCH2notch receptor 2 | Svært ofte (80–99 %) | I 2 tilstander |
| NR0B1nuclear receptor subfamily 0 group B member 1 | Svært ofte (80–99 %) | I 1 tilstand |
| NR5A1nuclear receptor subfamily 5 group A member 1 | Svært ofte (80–99 %) | I 1 tilstand |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Svært ofte (80–99 %) | I 2 tilstander |
| PLOD2procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 | Svært ofte (80–99 %) | I 1 tilstand |
| RNU4ATACRNA, U4atac small nuclear | Svært ofte (80–99 %) | I 1 tilstand |
| SCARB2scavenger receptor class B member 2 | Svært ofte (80–99 %) | I 1 tilstand |
| SLC7A7solute carrier family 7 member 7 | Svært ofte (80–99 %) | I 2 tilstander |
| SOX9SRY-box transcription factor 9 | Svært ofte (80–99 %) | I 1 tilstand |
| SRYsex determining region Y | Svært ofte (80–99 %) | I 1 tilstand |
| TNFRSF11ATNF receptor superfamily member 11a | Svært ofte (80–99 %) | I 1 tilstand |
| TNFRSF11BTNF receptor superfamily member 11b | Svært ofte (80–99 %) | I 2 tilstander |
| VAMP7vesicle associated membrane protein 7 | Svært ofte (80–99 %) | I 1 tilstand |
| WDR19WD repeat domain 19 | Svært ofte (80–99 %) | I 1 tilstand |
| WDR35WD repeat domain 35 | Svært ofte (80–99 %) | I 1 tilstand |
| WNT1Wnt family member 1 | Svært ofte (80–99 %) | I 1 tilstand |
| WNT3AWnt family member 3A | Svært ofte (80–99 %) | I 1 tilstand |
| WT1WT1 transcription factor | Svært ofte (80–99 %) | I 1 tilstand |
| WWOXWW domain containing oxidoreductase | Svært ofte (80–99 %) | I 1 tilstand |
| XYLT2xylosyltransferase 2 | Svært ofte (80–99 %) | I 1 tilstand |
| ZFPM2zinc finger protein, FOG family member 2 | Svært ofte (80–99 %) | I 1 tilstand |
| ABCC9ATP binding cassette subfamily C member 9 | Ofte (30–79 %) | I 2 tilstander |
| AIPAHR interacting HSP90 co-chaperone | Ofte (30–79 %) | I 2 tilstander |
| ARMC5armadillo repeat containing 5 | Ofte (30–79 %) | I 2 tilstander |
| ASXL1ASXL transcriptional regulator 1 | Ofte (30–79 %) | I 2 tilstander |
| ATP6V0A1ATPase H+ transporting V0 subunit a1 | Ofte (30–79 %) | I 1 tilstand |
| ATP7AATPase copper transporting alpha | Ofte (30–79 %) | I 4 tilstander |
| ATP7BATPase copper transporting beta | Ofte (30–79 %) | I 2 tilstander |
| ATRXATRX chromatin remodeler | Ofte (30–79 %) | I 2 tilstander |
| B3GALT6beta-1,3-galactosyltransferase 6 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| CDH23cadherin related 23 | Ofte (30–79 %) | I 3 tilstander |
| 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 tilstander |
| DUSP6dual specificity phosphatase 6 | Ofte (30–79 %) | I 2 tilstander |
| ELNelastin | Ofte (30–79 %) | I 2 tilstander |
| EMX2empty spiracles homeobox 2 | Ofte (30–79 %) | I 1 tilstand |
| FGF17fibroblast growth factor 17 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| HSPG2heparan sulfate proteoglycan 2 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| PPIBpeptidylprolyl isomerase B | Ofte (30–79 %) | I 1 tilstand |
| PRG4proteoglycan 4 | Ofte (30–79 %) | I 1 tilstand |
| PROK2prokineticin 2 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| SMSspermine synthase | Ofte (30–79 %) | I 2 tilstander |
| SPRY4sprouty RTK signaling antagonist 4 | Ofte (30–79 %) | I 1 tilstand |
| SRSF2serine and arginine rich splicing factor 2 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| TERTtelomerase reverse transcriptase | Ofte (30–79 %) | I 3 tilstander |
| TET2tet methylcytosine dioxygenase 2 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| WDR11WD repeat domain 11 | Ofte (30–79 %) | I 1 tilstand |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Noen ganger (5–29 %) | I 1 tilstand |
| ADCY10adenylate cyclase 10 | Noen ganger (5–29 %) | I 1 tilstand |
| ANAPC1anaphase promoting complex subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ASAH1N-acylsphingosine amidohydrolase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ASXL2ASXL transcriptional regulator 2 | Noen ganger (5–29 %) | I 1 tilstand |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Noen ganger (5–29 %) | I 1 tilstand |
| BMP6bone morphogenetic protein 6 | Noen ganger (5–29 %) | I 1 tilstand |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Noen ganger (5–29 %) | I 1 tilstand |
| CLIP2CAP-Gly domain containing linker protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| COL7A1collagen type VII alpha 1 chain | Noen ganger (5–29 %) | I 1 tilstand |
| CPLX1complexin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CTBP1C-terminal binding protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CTC1CST telomere replication complex component 1 | Noen ganger (5–29 %) | I 2 tilstander |
| DKC1dyskerin pseudouridine synthase 1 | Noen ganger (5–29 %) | I 2 tilstander |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Noen ganger (5–29 %) | I 1 tilstand |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| EIF4Heukaryotic translation initiation factor 4H | Noen ganger (5–29 %) | I 1 tilstand |
| FAT4FAT atypical cadherin 4 | Noen ganger (5–29 %) | I 1 tilstand |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Noen ganger (5–29 %) | I 1 tilstand |
| GALTgalactose-1-phosphate uridylyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| GATA1GATA binding protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GGCXgamma-glutamyl carboxylase | Noen ganger (5–29 %) | I 1 tilstand |
| GPR35G protein-coupled receptor 35 | 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 |
| HAMPhepcidin antimicrobial peptide | Noen ganger (5–29 %) | I 1 tilstand |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| HFEhomeostatic iron regulator | Noen ganger (5–29 %) | I 3 tilstander |
| HJVhemojuvelin BMP co-receptor | Noen ganger (5–29 %) | I 1 tilstand |
| HPGD15-hydroxyprostaglandin dehydrogenase | Noen ganger (5–29 %) | I 2 tilstander |
| HSD3B7hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Noen ganger (5–29 %) | I 1 tilstand |
| IL12Ainterleukin 12A | Noen ganger (5–29 %) | I 1 tilstand |
| IL12RB1interleukin 12 receptor subunit beta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| IL17RDinterleukin 17 receptor D | Noen ganger (5–29 %) | I 1 tilstand |
| IRF5interferon regulatory factor 5 | Noen ganger (5–29 %) | I 1 tilstand |
| KITKIT proto-oncogene, receptor tyrosine kinase | Noen ganger (5–29 %) | I 1 tilstand |
| LAMA3laminin subunit alpha 3 | Noen ganger (5–29 %) | I 1 tilstand |
| LAMB3laminin subunit beta 3 | Noen ganger (5–29 %) | I 1 tilstand |
| LAMC2laminin subunit gamma 2 | Noen ganger (5–29 %) | I 1 tilstand |
| LARS2leucyl-tRNA synthetase 2, mitochondrial | Noen ganger (5–29 %) | I 1 tilstand |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| LIMK1LIM domain kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| LMX1BLIM homeobox transcription factor 1 beta | Noen ganger (5–29 %) | I 1 tilstand |
| MAGEL2MAGE family member L2 | Noen ganger (5–29 %) | I 5 tilstander |
| MED12mediator complex subunit 12 | Noen ganger (5–29 %) | I 1 tilstand |
| METTL27methyltransferase like 27 | Noen ganger (5–29 %) | I 1 tilstand |
| MKRN3makorin ring finger protein 3 | Noen ganger (5–29 %) | I 1 tilstand |
| MMEL1membrane metalloendopeptidase like 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MMP1matrix metallopeptidase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MST1macrophage stimulating 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Noen ganger (5–29 %) | I 1 tilstand |
| NCF1neutrophil cytosolic factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NDNnecdin, MAGE family member | Noen ganger (5–29 %) | I 3 tilstander |
| NELFAnegative elongation factor complex member A | Noen ganger (5–29 %) | I 1 tilstand |
| NF1neurofibromin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NFIXnuclear factor I X | Noen ganger (5–29 %) | I 1 tilstand |
| NHP2NHP2 ribonucleoprotein | Noen ganger (5–29 %) | I 2 tilstander |
| NOP10NOP10 ribonucleoprotein | Noen ganger (5–29 %) | I 2 tilstander |
| NPAP1nuclear pore associated protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NPM1nucleophosmin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NSD2nuclear receptor binding SET domain protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| OCA2OCA2 melanosomal transmembrane protein | Noen ganger (5–29 %) | I 3 tilstander |
| PARNpoly(A)-specific ribonuclease | Noen ganger (5–29 %) | I 1 tilstand |
| PDGFRBplatelet derived growth factor receptor beta | Noen ganger (5–29 %) | I 1 tilstand |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Noen ganger (5–29 %) | I 1 tilstand |
| POU2AF1POU class 2 homeobox associating factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PRDM5PR/SET domain 5 | Noen ganger (5–29 %) | I 1 tilstand |
| PRLRprolactin receptor | Noen ganger (5–29 %) | I 1 tilstand |
| PWAR1Prader Willi/Angelman region RNA 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RFC2replication factor C subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RNU7-1RNA, U7 small nuclear 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RTEL1regulator of telomere elongation helicase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SEMA4Dsemaphorin 4D | Noen ganger (5–29 %) | I 1 tilstand |
| SIM1SIM bHLH transcription factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC9A6solute carrier family 9 member A6 | Noen ganger (5–29 %) | I 1 tilstand |
| SLCO2A1solute carrier organic anion transporter family member 2A1 | Noen ganger (5–29 %) | I 1 tilstand |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Noen ganger (5–29 %) | I 1 tilstand |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Noen ganger (5–29 %) | I 1 tilstand |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Noen ganger (5–29 %) | I 3 tilstander |
| SPIBSpi-B transcription factor | Noen ganger (5–29 %) | I 1 tilstand |
| SRCSRC proto-oncogene, non-receptor tyrosine kinase | Noen ganger (5–29 %) | I 1 tilstand |
| STAT6signal transducer and activator of transcription 6 | Noen ganger (5–29 %) | I 1 tilstand |
| STX1Asyntaxin 1A | Noen ganger (5–29 %) | I 2 tilstander |
| TBL2transducin beta like 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TCF12transcription factor 12 | Noen ganger (5–29 %) | I 1 tilstand |
| TCF4transcription factor 4 | Noen ganger (5–29 %) | I 1 tilstand |
| TERCtelomerase RNA component | Noen ganger (5–29 %) | I 2 tilstander |
| TINF2TERF1 interacting nuclear factor 2 | Noen ganger (5–29 %) | I 3 tilstander |
| TMEM270transmembrane protein 270 | Noen ganger (5–29 %) | I 1 tilstand |
| TNFSF15TNF superfamily member 15 | Noen ganger (5–29 %) | I 1 tilstand |
| TNPO3transportin 3 | Noen ganger (5–29 %) | I 1 tilstand |
| TYMSthymidylate synthetase | Noen ganger (5–29 %) | I 1 tilstand |
| URODuroporphyrinogen decarboxylase | Noen ganger (5–29 %) | I 1 tilstand |
| UROSuroporphyrinogen III synthase | Noen ganger (5–29 %) | I 1 tilstand |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| VKORC1vitamin K epoxide reductase complex subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| VPS37DVPS37D subunit of ESCRT-I | Noen ganger (5–29 %) | I 1 tilstand |
| WRAP53WD repeat containing antisense to TP53 | Noen ganger (5–29 %) | I 1 tilstand |
| ZNF469zinc finger protein 469 | Noen ganger (5–29 %) | I 1 tilstand |
| CEACAM3CEA cell adhesion molecule 3 | Sjelden (1–4%) | I 1 tilstand |
| CEACAM6CEA cell adhesion molecule 6 | Sjelden (1–4%) | I 1 tilstand |
| CFTRCF transmembrane conductance regulator | Sjelden (1–4%) | I 1 tilstand |
| CLCA4chloride channel accessory 4 | Sjelden (1–4%) | I 1 tilstand |
| CTCFCCCTC-binding factor | Sjelden (1–4%) | I 1 tilstand |
| DCTN4dynactin subunit 4 | Sjelden (1–4%) | I 1 tilstand |
| EDNRAendothelin receptor type A | Sjelden (1–4%) | I 1 tilstand |
| GCLCglutamate-cysteine ligase catalytic subunit | Sjelden (1–4%) | I 1 tilstand |
| GSTM3glutathione S-transferase mu 3 | Sjelden (1–4%) | I 1 tilstand |
| HMOX1heme oxygenase 1 | Sjelden (1–4%) | I 1 tilstand |
| KCNN4potassium calcium-activated channel subfamily N member 4 | Sjelden (1–4%) | I 1 tilstand |
| MIFmacrophage migration inhibitory factor | Sjelden (1–4%) | I 1 tilstand |
| PHKA2phosphorylase kinase regulatory subunit alpha 2 | Sjelden (1–4%) | I 1 tilstand |
| PHKBphosphorylase kinase regulatory subunit beta | Sjelden (1–4%) | I 1 tilstand |
| PHKG2phosphorylase kinase catalytic subunit gamma 2 | Sjelden (1–4%) | I 1 tilstand |
| POLG2DNA polymerase gamma 2, accessory subunit | Sjelden (1–4%) | I 1 tilstand |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Sjelden (1–4%) | I 1 tilstand |
| SERPINA1serpin family A member 1 | Sjelden (1–4%) | I 1 tilstand |
| SLC11A1solute carrier family 11 member 1 | Sjelden (1–4%) | I 1 tilstand |
| SLC25A4solute carrier family 25 member 4 | Sjelden (1–4%) | I 1 tilstand |
| SLC26A9solute carrier family 26 member 9 | Sjelden (1–4%) | I 1 tilstand |
| SLC6A14solute carrier family 6 member 14 | Sjelden (1–4%) | I 1 tilstand |
| SLC9A3solute carrier family 9 member A3 | Sjelden (1–4%) | I 1 tilstand |
| SMAD3SMAD family member 3 | Sjelden (1–4%) | I 1 tilstand |
| TGFB1transforming growth factor beta 1 | Sjelden (1–4%) | I 1 tilstand |
| TWNKtwinkle mtDNA helicase | Sjelden (1–4%) | I 1 tilstand |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Ikke registrert | I 1 tilstand |
| BMP2bone morphogenetic protein 2 | Ikke registrert | I 1 tilstand |
| CALCRcalcitonin receptor | Ikke registrert | I 1 tilstand |
| CANT1calcium activated nucleotidase 1 | Ikke registrert | I 1 tilstand |
| CAVIN1caveolae associated protein 1 | Ikke registrert | I 1 tilstand |
| CCN6cellular communication network factor 6 | Ikke registrert | I 1 tilstand |
| CHST3carbohydrate sulfotransferase 3 | Ikke registrert | I 1 tilstand |
| COL1A1collagen type I alpha 1 chain | Ikke registrert | I 1 tilstand |
| COL1A2collagen type I alpha 2 chain | Ikke registrert | I 1 tilstand |
| EIF2AK3eukaryotic translation initiation factor 2 alpha kinase 3 | Ikke registrert | I 1 tilstand |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Ikke registrert | I 2 tilstander |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Ikke registrert | I 1 tilstand |
| FSHRfollicle stimulating hormone receptor | Ikke registrert | I 1 tilstand |
| G6PC1glucose-6-phosphatase catalytic subunit 1 | Ikke registrert | I 1 tilstand |
| GALNSgalactosamine (N-acetyl)-6-sulfatase | Ikke registrert | I 1 tilstand |
| GKglycerol kinase | Ikke registrert | I 1 tilstand |
| GLB1galactosidase beta 1 | Ikke registrert | I 1 tilstand |
| HLA-DQA1major histocompatibility complex, class II, DQ alpha 1 | Ikke registrert | I 1 tilstand |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Ikke registrert | I 1 tilstand |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Ikke registrert | I 1 tilstand |
| IFIH1interferon induced with helicase C domain 1 | Ikke registrert | I 1 tilstand |
| LRP6LDL receptor related protein 6 | Ikke registrert | I 1 tilstand |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Ikke registrert | I 1 tilstand |
| NHERF1NHERF family PDZ scaffold protein 1 | Ikke registrert | I 1 tilstand |
| PCCApropionyl-CoA carboxylase subunit alpha | Ikke registrert | I 1 tilstand |
| PCCBpropionyl-CoA carboxylase subunit beta | Ikke registrert | I 1 tilstand |
| PDE11Aphosphodiesterase 11A | Ikke registrert | I 1 tilstand |
| PDLIM4PDZ and LIM domain 4 | Ikke registrert | I 1 tilstand |
| PEX12peroxisomal biogenesis factor 12 | Ikke registrert | I 1 tilstand |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Ikke registrert | I 1 tilstand |
| PRKACAprotein kinase cAMP-activated catalytic subunit alpha | Ikke registrert | I 1 tilstand |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Ikke registrert | I 1 tilstand |
| PSTPIP1proline-serine-threonine phosphatase interacting protein 1 | Ikke registrert | I 1 tilstand |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Ikke registrert | I 1 tilstand |
| RECQL4RecQ like helicase 4 | Ikke registrert | I 1 tilstand |
| RPL11ribosomal protein L11 | Ikke registrert | I 1 tilstand |
| SGMS2sphingomyelin synthase 2 | Ikke registrert | I 1 tilstand |
| SH3PXD2BSH3 and PX domains 2B | Ikke registrert | I 1 tilstand |
| SLC34A1solute carrier family 34 member 1 | Ikke registrert | I 1 tilstand |
| TRIP11thyroid hormone receptor interactor 11 | Ikke registrert | I 1 tilstand |
| VPS53VPS53 subunit of GARP complex | Ikke registrert | I 1 tilstand |
| WNK3WNK lysine deficient protein kinase 3 | Ikke registrert | I 1 tilstand |
| ZBTB20zinc finger and BTB domain containing 20 | 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.
Fra 449 $Gratis frakt · Resultater på 6–8 uker