Cecha
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).
Podsumowanie
- Układ organizmu
- Abnormality of the musculoskeletal system
Genom referencyjnyGRCh38hg38
Pozycje na stronach genów i wariantów zależą od tego wyboru, w tej przeglądarce.
Read the genes linked to Osteoporosis, and the rest of your genome, with one test.
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Zamawiam Genome Test309 genów powiązanych z Osteoporosis
Zmiany w tych genach powodują rzadkie choroby, w których występuje Osteoporosis. Większość osób z tą cechą nie ma żadnej z tych chorób, a gen z tej listy nic nie mówi o czyimkolwiek własnym genomie.
| Gen | Jak często występuje | Choroby |
|---|---|---|
| ALBalbumin | Zawsze | W 1 chorobie |
| ANTXR2ANTXR cell adhesion molecule 2 | Zawsze | W 2 chorobach |
| ARHGEF15Rho guanine nucleotide exchange factor 15 | Zawsze | W 1 chorobie |
| BANF1barrier to autointegration nuclear assembly factor 1 | Zawsze | W 1 chorobie |
| BMP1bone morphogenetic protein 1 | Zawsze | W 1 chorobie |
| ESR2estrogen receptor 2 | Zawsze | W 1 chorobie |
| FKBP10FKBP prolyl isomerase 10 | Zawsze | W 2 chorobach |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Zawsze | W 1 chorobie |
| KDELR2KDEL endoplasmic reticulum protein retention receptor 2 | Zawsze | W 1 chorobie |
| LIFRLIF receptor subunit alpha | Zawsze | W 2 chorobach |
| MALT1MALT1 paracaspase | Zawsze | W 1 chorobie |
| MIR2861microRNA 2861 | Zawsze | W 1 chorobie |
| PTBP1polypyrimidine tract binding protein 1 | Zawsze | W 1 chorobie |
| PYCR1pyrroline-5-carboxylate reductase 1 | Zawsze | W 2 chorobach |
| SC5Dsterol-C5-desaturase | Zawsze | W 1 chorobie |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Zawsze | W 1 chorobie |
| SLC37A4solute carrier family 37 member 4 | Zawsze | W 3 chorobach |
| SP7Sp7 transcription factor | Zawsze | W 1 chorobie |
| SPARCsecreted protein acidic and cysteine rich | Zawsze | W 1 chorobie |
| TGFBR2transforming growth factor beta receptor 2 | Zawsze | W 1 chorobie |
| TMEM165transmembrane protein 165 | Zawsze | W 1 chorobie |
| TMEM38Btransmembrane protein 38B | Zawsze | W 1 chorobie |
| TMEM67transmembrane protein 67 | Zawsze | W 1 chorobie |
| UNC13Aunc-13 homolog A | Zawsze | W 1 chorobie |
| WRNWRN RecQ like helicase | Zawsze | W 2 chorobach |
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Bardzo często (80–99%) | W 1 chorobie |
| ADAMTSL2ADAMTS like 2 | Bardzo często (80–99%) | W 1 chorobie |
| CBScystathionine beta-synthase | Bardzo często (80–99%) | W 1 chorobie |
| CYB5Acytochrome b5 type A | Bardzo często (80–99%) | W 1 chorobie |
| CYP11A1cytochrome P450 family 11 subfamily A member 1 | Bardzo często (80–99%) | W 2 chorobach |
| CYP17A1cytochrome P450 family 17 subfamily A member 1 | Bardzo często (80–99%) | W 1 chorobie |
| CYP19A1cytochrome P450 family 19 subfamily A member 1 | Bardzo często (80–99%) | W 1 chorobie |
| DHX37DEAH-box helicase 37 | Bardzo często (80–99%) | W 1 chorobie |
| DKK1dickkopf Wnt signaling pathway inhibitor 1 | Bardzo często (80–99%) | W 1 chorobie |
| ESR1estrogen receptor 1 | Bardzo często (80–99%) | W 1 chorobie |
| GATA4GATA binding protein 4 | Bardzo często (80–99%) | W 1 chorobie |
| GBA1glucosylceramidase beta 1 | Bardzo często (80–99%) | W 1 chorobie |
| GORABgolgin, RAB6 interacting | Bardzo często (80–99%) | W 2 chorobach |
| HBBhemoglobin subunit beta | Bardzo często (80–99%) | W 4 chorobach |
| IFT122intraflagellar transport 122 | Bardzo często (80–99%) | W 2 chorobach |
Pokaż jeszcze 269 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| IFT43intraflagellar transport 43 | Bardzo często (80–99%) | W 1 chorobie |
| IFT52intraflagellar transport 52 | Bardzo często (80–99%) | W 1 chorobie |
| LMNAlamin A/C | Bardzo często (80–99%) | W 2 chorobach |
| LRP5LDL receptor related protein 5 | Bardzo często (80–99%) | W 2 chorobach |
| MAP3K1mitogen-activated protein kinase kinase kinase 1 | Bardzo często (80–99%) | W 1 chorobie |
| MMP14matrix metallopeptidase 14 | Bardzo często (80–99%) | W 1 chorobie |
| MMP2matrix metallopeptidase 2 | Bardzo często (80–99%) | W 2 chorobach |
| NOTCH2notch receptor 2 | Bardzo często (80–99%) | W 2 chorobach |
| NR0B1nuclear receptor subfamily 0 group B member 1 | Bardzo często (80–99%) | W 1 chorobie |
| NR5A1nuclear receptor subfamily 5 group A member 1 | Bardzo często (80–99%) | W 1 chorobie |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Bardzo często (80–99%) | W 2 chorobach |
| PLOD2procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 | Bardzo często (80–99%) | W 1 chorobie |
| RNU4ATACRNA, U4atac small nuclear | Bardzo często (80–99%) | W 1 chorobie |
| SCARB2scavenger receptor class B member 2 | Bardzo często (80–99%) | W 1 chorobie |
| SLC7A7solute carrier family 7 member 7 | Bardzo często (80–99%) | W 2 chorobach |
| SOX9SRY-box transcription factor 9 | Bardzo często (80–99%) | W 1 chorobie |
| SRYsex determining region Y | Bardzo często (80–99%) | W 1 chorobie |
| TNFRSF11ATNF receptor superfamily member 11a | Bardzo często (80–99%) | W 1 chorobie |
| TNFRSF11BTNF receptor superfamily member 11b | Bardzo często (80–99%) | W 2 chorobach |
| VAMP7vesicle associated membrane protein 7 | Bardzo często (80–99%) | W 1 chorobie |
| WDR19WD repeat domain 19 | Bardzo często (80–99%) | W 1 chorobie |
| WDR35WD repeat domain 35 | Bardzo często (80–99%) | W 1 chorobie |
| WNT1Wnt family member 1 | Bardzo często (80–99%) | W 1 chorobie |
| WNT3AWnt family member 3A | Bardzo często (80–99%) | W 1 chorobie |
| WT1WT1 transcription factor | Bardzo często (80–99%) | W 1 chorobie |
| WWOXWW domain containing oxidoreductase | Bardzo często (80–99%) | W 1 chorobie |
| XYLT2xylosyltransferase 2 | Bardzo często (80–99%) | W 1 chorobie |
| ZFPM2zinc finger protein, FOG family member 2 | Bardzo często (80–99%) | W 1 chorobie |
| ABCC9ATP binding cassette subfamily C member 9 | Często (30–79%) | W 2 chorobach |
| AIPAHR interacting HSP90 co-chaperone | Często (30–79%) | W 2 chorobach |
| ARMC5armadillo repeat containing 5 | Często (30–79%) | W 2 chorobach |
| ASXL1ASXL transcriptional regulator 1 | Często (30–79%) | W 2 chorobach |
| ATP6V0A1ATPase H+ transporting V0 subunit a1 | Często (30–79%) | W 1 chorobie |
| ATP7AATPase copper transporting alpha | Często (30–79%) | W 4 chorobach |
| ATP7BATPase copper transporting beta | Często (30–79%) | W 2 chorobach |
| ATRXATRX chromatin remodeler | Często (30–79%) | W 2 chorobach |
| B3GALT6beta-1,3-galactosyltransferase 6 | Często (30–79%) | W 2 chorobach |
| BORCS8BLOC-1 related complex subunit 8 | Często (30–79%) | W 1 chorobie |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Często (30–79%) | W 1 chorobie |
| CBLCbl proto-oncogene | Często (30–79%) | W 1 chorobie |
| CDC73cell division cycle 73 | Często (30–79%) | W 2 chorobach |
| CDH23cadherin related 23 | Często (30–79%) | W 3 chorobach |
| CHD7chromodomain helicase DNA binding protein 7 | Często (30–79%) | W 1 chorobie |
| COL2A1collagen type II alpha 1 chain | Często (30–79%) | W 1 chorobie |
| CTDP1CTD phosphatase 1 | Często (30–79%) | W 1 chorobie |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Często (30–79%) | W 2 chorobach |
| DUSP6dual specificity phosphatase 6 | Często (30–79%) | W 2 chorobach |
| ELNelastin | Często (30–79%) | W 2 chorobach |
| EMX2empty spiracles homeobox 2 | Często (30–79%) | W 1 chorobie |
| FGF17fibroblast growth factor 17 | Często (30–79%) | W 2 chorobach |
| FGF8fibroblast growth factor 8 | Często (30–79%) | W 1 chorobie |
| FGFR1fibroblast growth factor receptor 1 | Często (30–79%) | W 1 chorobie |
| GNASGNAS complex locus | Często (30–79%) | W 5 chorobach |
| GNRH1gonadotropin releasing hormone 1 | Często (30–79%) | W 1 chorobie |
| GNRHRgonadotropin releasing hormone receptor | Często (30–79%) | W 1 chorobie |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Często (30–79%) | W 1 chorobie |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Często (30–79%) | W 2 chorobach |
| HSPG2heparan sulfate proteoglycan 2 | Często (30–79%) | W 2 chorobach |
| IGF1insulin like growth factor 1 | Często (30–79%) | W 1 chorobie |
| KCNJ8potassium inwardly rectifying channel subfamily J member 8 | Często (30–79%) | W 1 chorobie |
| KDM1Alysine demethylase 1A | Często (30–79%) | W 1 chorobie |
| KISS1KiSS-1 metastasis suppressor | Często (30–79%) | W 1 chorobie |
| KISS1RKISS1 receptor | Często (30–79%) | W 1 chorobie |
| MEN1menin 1 | Często (30–79%) | W 1 chorobie |
| MLXIPLMLX interacting protein like | Często (30–79%) | W 1 chorobie |
| NGLY1N-glycanase 1 | Często (30–79%) | W 1 chorobie |
| NHLH2nescient helix-loop-helix 2 | Często (30–79%) | W 1 chorobie |
| NR3C1nuclear receptor subfamily 3 group C member 1 | Często (30–79%) | W 1 chorobie |
| NSMFNMDA receptor synaptonuclear signaling and neuronal migration factor | Często (30–79%) | W 2 chorobach |
| PMM2phosphomannomutase 2 | Często (30–79%) | W 1 chorobie |
| POF1BPOF1B actin binding protein | Często (30–79%) | W 1 chorobie |
| POLD1DNA polymerase delta 1, catalytic subunit | Często (30–79%) | W 1 chorobie |
| POLGDNA polymerase gamma, catalytic subunit | Często (30–79%) | W 2 chorobach |
| PPIBpeptidylprolyl isomerase B | Często (30–79%) | W 1 chorobie |
| PRG4proteoglycan 4 | Często (30–79%) | W 1 chorobie |
| PROK2prokineticin 2 | Często (30–79%) | W 2 chorobach |
| PROKR2prokineticin receptor 2 | Często (30–79%) | W 1 chorobie |
| PYGLglycogen phosphorylase L | Często (30–79%) | W 1 chorobie |
| RIN2Ras and Rab interactor 2 | Często (30–79%) | W 1 chorobie |
| RNU4-2RNA, U4 small nuclear 2 | Często (30–79%) | W 1 chorobie |
| RPL10ribosomal protein L10 | Często (30–79%) | W 2 chorobach |
| RUNX1RUNX family transcription factor 1 | Często (30–79%) | W 1 chorobie |
| RUNX2RUNX family transcription factor 2 | Często (30–79%) | W 1 chorobie |
| SLC25A19solute carrier family 25 member 19 | Często (30–79%) | W 1 chorobie |
| SMPD1sphingomyelin phosphodiesterase 1 | Często (30–79%) | W 2 chorobach |
| SMSspermine synthase | Często (30–79%) | W 2 chorobach |
| SPRY4sprouty RTK signaling antagonist 4 | Często (30–79%) | W 1 chorobie |
| SRSF2serine and arginine rich splicing factor 2 | Często (30–79%) | W 2 chorobach |
| STAT3signal transducer and activator of transcription 3 | Często (30–79%) | W 1 chorobie |
| TAC3tachykinin precursor 3 | Często (30–79%) | W 1 chorobie |
| TACR3tachykinin receptor 3 | Często (30–79%) | W 1 chorobie |
| TBCKTBC1 domain containing kinase | Często (30–79%) | W 2 chorobach |
| TERTtelomerase reverse transcriptase | Często (30–79%) | W 3 chorobach |
| TET2tet methylcytosine dioxygenase 2 | Często (30–79%) | W 2 chorobach |
| TP53tumor protein p53 | Często (30–79%) | W 1 chorobie |
| TRMT10AtRNA methyltransferase 10A | Często (30–79%) | W 1 chorobie |
| USP48ubiquitin specific peptidase 48 | Często (30–79%) | W 1 chorobie |
| USP8ubiquitin specific peptidase 8 | Często (30–79%) | W 2 chorobach |
| WDR11WD repeat domain 11 | Często (30–79%) | W 1 chorobie |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Czasami (5–29%) | W 1 chorobie |
| ADCY10adenylate cyclase 10 | Czasami (5–29%) | W 1 chorobie |
| ANAPC1anaphase promoting complex subunit 1 | Czasami (5–29%) | W 1 chorobie |
| ASAH1N-acylsphingosine amidohydrolase 1 | Czasami (5–29%) | W 1 chorobie |
| ASXL2ASXL transcriptional regulator 2 | Czasami (5–29%) | W 1 chorobie |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Czasami (5–29%) | W 1 chorobie |
| BMP6bone morphogenetic protein 6 | Czasami (5–29%) | W 1 chorobie |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Czasami (5–29%) | W 1 chorobie |
| CLIP2CAP-Gly domain containing linker protein 2 | Czasami (5–29%) | W 1 chorobie |
| COL7A1collagen type VII alpha 1 chain | Czasami (5–29%) | W 1 chorobie |
| CPLX1complexin 1 | Czasami (5–29%) | W 1 chorobie |
| CTBP1C-terminal binding protein 1 | Czasami (5–29%) | W 1 chorobie |
| CTC1CST telomere replication complex component 1 | Czasami (5–29%) | W 2 chorobach |
| DKC1dyskerin pseudouridine synthase 1 | Czasami (5–29%) | W 2 chorobach |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Czasami (5–29%) | W 1 chorobie |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Czasami (5–29%) | W 1 chorobie |
| EIF4Heukaryotic translation initiation factor 4H | Czasami (5–29%) | W 1 chorobie |
| FAT4FAT atypical cadherin 4 | Czasami (5–29%) | W 1 chorobie |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Czasami (5–29%) | W 1 chorobie |
| GALTgalactose-1-phosphate uridylyltransferase | Czasami (5–29%) | W 1 chorobie |
| GATA1GATA binding protein 1 | Czasami (5–29%) | W 1 chorobie |
| GGCXgamma-glutamyl carboxylase | Czasami (5–29%) | W 1 chorobie |
| GPR35G protein-coupled receptor 35 | Czasami (5–29%) | W 1 chorobie |
| GTF2Igeneral transcription factor IIi | Czasami (5–29%) | W 1 chorobie |
| GTF2IRD1GTF2I repeat domain containing 1 | Czasami (5–29%) | W 1 chorobie |
| GTF2IRD2GTF2I repeat domain containing 2 | Czasami (5–29%) | W 1 chorobie |
| HAMPhepcidin antimicrobial peptide | Czasami (5–29%) | W 1 chorobie |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Czasami (5–29%) | W 1 chorobie |
| HFEhomeostatic iron regulator | Czasami (5–29%) | W 3 chorobach |
| HJVhemojuvelin BMP co-receptor | Czasami (5–29%) | W 1 chorobie |
| HPGD15-hydroxyprostaglandin dehydrogenase | Czasami (5–29%) | W 2 chorobach |
| HSD3B7hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Czasami (5–29%) | W 1 chorobie |
| IL12Ainterleukin 12A | Czasami (5–29%) | W 1 chorobie |
| IL12RB1interleukin 12 receptor subunit beta 1 | Czasami (5–29%) | W 1 chorobie |
| IL17RDinterleukin 17 receptor D | Czasami (5–29%) | W 1 chorobie |
| IRF5interferon regulatory factor 5 | Czasami (5–29%) | W 1 chorobie |
| KITKIT proto-oncogene, receptor tyrosine kinase | Czasami (5–29%) | W 1 chorobie |
| LAMA3laminin subunit alpha 3 | Czasami (5–29%) | W 1 chorobie |
| LAMB3laminin subunit beta 3 | Czasami (5–29%) | W 1 chorobie |
| LAMC2laminin subunit gamma 2 | Czasami (5–29%) | W 1 chorobie |
| LARS2leucyl-tRNA synthetase 2, mitochondrial | Czasami (5–29%) | W 1 chorobie |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Czasami (5–29%) | W 1 chorobie |
| LIMK1LIM domain kinase 1 | Czasami (5–29%) | W 1 chorobie |
| LMX1BLIM homeobox transcription factor 1 beta | Czasami (5–29%) | W 1 chorobie |
| MAGEL2MAGE family member L2 | Czasami (5–29%) | W 5 chorobach |
| MED12mediator complex subunit 12 | Czasami (5–29%) | W 1 chorobie |
| METTL27methyltransferase like 27 | Czasami (5–29%) | W 1 chorobie |
| MKRN3makorin ring finger protein 3 | Czasami (5–29%) | W 1 chorobie |
| MMEL1membrane metalloendopeptidase like 1 | Czasami (5–29%) | W 1 chorobie |
| MMP1matrix metallopeptidase 1 | Czasami (5–29%) | W 1 chorobie |
| MST1macrophage stimulating 1 | Czasami (5–29%) | W 1 chorobie |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Czasami (5–29%) | W 1 chorobie |
| NCF1neutrophil cytosolic factor 1 | Czasami (5–29%) | W 1 chorobie |
| NDNnecdin, MAGE family member | Czasami (5–29%) | W 3 chorobach |
| NELFAnegative elongation factor complex member A | Czasami (5–29%) | W 1 chorobie |
| NF1neurofibromin 1 | Czasami (5–29%) | W 1 chorobie |
| NFIXnuclear factor I X | Czasami (5–29%) | W 1 chorobie |
| NHP2NHP2 ribonucleoprotein | Czasami (5–29%) | W 2 chorobach |
| NOP10NOP10 ribonucleoprotein | Czasami (5–29%) | W 2 chorobach |
| NPAP1nuclear pore associated protein 1 | Czasami (5–29%) | W 1 chorobie |
| NPM1nucleophosmin 1 | Czasami (5–29%) | W 1 chorobie |
| NSD2nuclear receptor binding SET domain protein 2 | Czasami (5–29%) | W 1 chorobie |
| OCA2OCA2 melanosomal transmembrane protein | Czasami (5–29%) | W 3 chorobach |
| PARNpoly(A)-specific ribonuclease | Czasami (5–29%) | W 1 chorobie |
| PDGFRBplatelet derived growth factor receptor beta | Czasami (5–29%) | W 1 chorobie |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Czasami (5–29%) | W 1 chorobie |
| POU2AF1POU class 2 homeobox associating factor 1 | Czasami (5–29%) | W 1 chorobie |
| PRDM5PR/SET domain 5 | Czasami (5–29%) | W 1 chorobie |
| PRLRprolactin receptor | Czasami (5–29%) | W 1 chorobie |
| PWAR1Prader Willi/Angelman region RNA 1 | Czasami (5–29%) | W 1 chorobie |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Czasami (5–29%) | W 1 chorobie |
| RFC2replication factor C subunit 2 | Czasami (5–29%) | W 1 chorobie |
| RNU7-1RNA, U7 small nuclear 1 | Czasami (5–29%) | W 1 chorobie |
| RTEL1regulator of telomere elongation helicase 1 | Czasami (5–29%) | W 1 chorobie |
| SEMA4Dsemaphorin 4D | Czasami (5–29%) | W 1 chorobie |
| SIM1SIM bHLH transcription factor 1 | Czasami (5–29%) | W 1 chorobie |
| SLC9A6solute carrier family 9 member A6 | Czasami (5–29%) | W 1 chorobie |
| SLCO2A1solute carrier organic anion transporter family member 2A1 | Czasami (5–29%) | W 1 chorobie |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Czasami (5–29%) | W 1 chorobie |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Czasami (5–29%) | W 1 chorobie |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Czasami (5–29%) | W 3 chorobach |
| SPIBSpi-B transcription factor | Czasami (5–29%) | W 1 chorobie |
| SRCSRC proto-oncogene, non-receptor tyrosine kinase | Czasami (5–29%) | W 1 chorobie |
| STAT6signal transducer and activator of transcription 6 | Czasami (5–29%) | W 1 chorobie |
| STX1Asyntaxin 1A | Czasami (5–29%) | W 2 chorobach |
| TBL2transducin beta like 2 | Czasami (5–29%) | W 1 chorobie |
| TCF12transcription factor 12 | Czasami (5–29%) | W 1 chorobie |
| TCF4transcription factor 4 | Czasami (5–29%) | W 1 chorobie |
| TERCtelomerase RNA component | Czasami (5–29%) | W 2 chorobach |
| TINF2TERF1 interacting nuclear factor 2 | Czasami (5–29%) | W 3 chorobach |
| TMEM270transmembrane protein 270 | Czasami (5–29%) | W 1 chorobie |
| TNFSF15TNF superfamily member 15 | Czasami (5–29%) | W 1 chorobie |
| TNPO3transportin 3 | Czasami (5–29%) | W 1 chorobie |
| TYMSthymidylate synthetase | Czasami (5–29%) | W 1 chorobie |
| URODuroporphyrinogen decarboxylase | Czasami (5–29%) | W 1 chorobie |
| UROSuroporphyrinogen III synthase | Czasami (5–29%) | W 1 chorobie |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Czasami (5–29%) | W 1 chorobie |
| VKORC1vitamin K epoxide reductase complex subunit 1 | Czasami (5–29%) | W 1 chorobie |
| VPS37DVPS37D subunit of ESCRT-I | Czasami (5–29%) | W 1 chorobie |
| WRAP53WD repeat containing antisense to TP53 | Czasami (5–29%) | W 1 chorobie |
| ZNF469zinc finger protein 469 | Czasami (5–29%) | W 1 chorobie |
| CEACAM3CEA cell adhesion molecule 3 | Rzadko (1–4%) | W 1 chorobie |
| CEACAM6CEA cell adhesion molecule 6 | Rzadko (1–4%) | W 1 chorobie |
| CFTRCF transmembrane conductance regulator | Rzadko (1–4%) | W 1 chorobie |
| CLCA4chloride channel accessory 4 | Rzadko (1–4%) | W 1 chorobie |
| CTCFCCCTC-binding factor | Rzadko (1–4%) | W 1 chorobie |
| DCTN4dynactin subunit 4 | Rzadko (1–4%) | W 1 chorobie |
| EDNRAendothelin receptor type A | Rzadko (1–4%) | W 1 chorobie |
| GCLCglutamate-cysteine ligase catalytic subunit | Rzadko (1–4%) | W 1 chorobie |
| GSTM3glutathione S-transferase mu 3 | Rzadko (1–4%) | W 1 chorobie |
| HMOX1heme oxygenase 1 | Rzadko (1–4%) | W 1 chorobie |
| KCNN4potassium calcium-activated channel subfamily N member 4 | Rzadko (1–4%) | W 1 chorobie |
| MIFmacrophage migration inhibitory factor | Rzadko (1–4%) | W 1 chorobie |
| PHKA2phosphorylase kinase regulatory subunit alpha 2 | Rzadko (1–4%) | W 1 chorobie |
| PHKBphosphorylase kinase regulatory subunit beta | Rzadko (1–4%) | W 1 chorobie |
| PHKG2phosphorylase kinase catalytic subunit gamma 2 | Rzadko (1–4%) | W 1 chorobie |
| POLG2DNA polymerase gamma 2, accessory subunit | Rzadko (1–4%) | W 1 chorobie |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Rzadko (1–4%) | W 1 chorobie |
| SERPINA1serpin family A member 1 | Rzadko (1–4%) | W 1 chorobie |
| SLC11A1solute carrier family 11 member 1 | Rzadko (1–4%) | W 1 chorobie |
| SLC25A4solute carrier family 25 member 4 | Rzadko (1–4%) | W 1 chorobie |
| SLC26A9solute carrier family 26 member 9 | Rzadko (1–4%) | W 1 chorobie |
| SLC6A14solute carrier family 6 member 14 | Rzadko (1–4%) | W 1 chorobie |
| SLC9A3solute carrier family 9 member A3 | Rzadko (1–4%) | W 1 chorobie |
| SMAD3SMAD family member 3 | Rzadko (1–4%) | W 1 chorobie |
| TGFB1transforming growth factor beta 1 | Rzadko (1–4%) | W 1 chorobie |
| TWNKtwinkle mtDNA helicase | Rzadko (1–4%) | W 1 chorobie |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Nie odnotowano | W 1 chorobie |
| BMP2bone morphogenetic protein 2 | Nie odnotowano | W 1 chorobie |
| CALCRcalcitonin receptor | Nie odnotowano | W 1 chorobie |
| CANT1calcium activated nucleotidase 1 | Nie odnotowano | W 1 chorobie |
| CAVIN1caveolae associated protein 1 | Nie odnotowano | W 1 chorobie |
| CCN6cellular communication network factor 6 | Nie odnotowano | W 1 chorobie |
| CHST3carbohydrate sulfotransferase 3 | Nie odnotowano | W 1 chorobie |
| COL1A1collagen type I alpha 1 chain | Nie odnotowano | W 1 chorobie |
| COL1A2collagen type I alpha 2 chain | Nie odnotowano | W 1 chorobie |
| EIF2AK3eukaryotic translation initiation factor 2 alpha kinase 3 | Nie odnotowano | W 1 chorobie |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Nie odnotowano | W 2 chorobach |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Nie odnotowano | W 1 chorobie |
| FSHRfollicle stimulating hormone receptor | Nie odnotowano | W 1 chorobie |
| G6PC1glucose-6-phosphatase catalytic subunit 1 | Nie odnotowano | W 1 chorobie |
| GALNSgalactosamine (N-acetyl)-6-sulfatase | Nie odnotowano | W 1 chorobie |
| GKglycerol kinase | Nie odnotowano | W 1 chorobie |
| GLB1galactosidase beta 1 | Nie odnotowano | W 1 chorobie |
| HLA-DQA1major histocompatibility complex, class II, DQ alpha 1 | Nie odnotowano | W 1 chorobie |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Nie odnotowano | W 1 chorobie |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Nie odnotowano | W 1 chorobie |
| IFIH1interferon induced with helicase C domain 1 | Nie odnotowano | W 1 chorobie |
| LRP6LDL receptor related protein 6 | Nie odnotowano | W 1 chorobie |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Nie odnotowano | W 1 chorobie |
| NHERF1NHERF family PDZ scaffold protein 1 | Nie odnotowano | W 1 chorobie |
| PCCApropionyl-CoA carboxylase subunit alpha | Nie odnotowano | W 1 chorobie |
| PCCBpropionyl-CoA carboxylase subunit beta | Nie odnotowano | W 1 chorobie |
| PDE11Aphosphodiesterase 11A | Nie odnotowano | W 1 chorobie |
| PDLIM4PDZ and LIM domain 4 | Nie odnotowano | W 1 chorobie |
| PEX12peroxisomal biogenesis factor 12 | Nie odnotowano | W 1 chorobie |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Nie odnotowano | W 1 chorobie |
| PRKACAprotein kinase cAMP-activated catalytic subunit alpha | Nie odnotowano | W 1 chorobie |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Nie odnotowano | W 1 chorobie |
| PSTPIP1proline-serine-threonine phosphatase interacting protein 1 | Nie odnotowano | W 1 chorobie |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Nie odnotowano | W 1 chorobie |
| RECQL4RecQ like helicase 4 | Nie odnotowano | W 1 chorobie |
| RPL11ribosomal protein L11 | Nie odnotowano | W 1 chorobie |
| SGMS2sphingomyelin synthase 2 | Nie odnotowano | W 1 chorobie |
| SH3PXD2BSH3 and PX domains 2B | Nie odnotowano | W 1 chorobie |
| SLC34A1solute carrier family 34 member 1 | Nie odnotowano | W 1 chorobie |
| TRIP11thyroid hormone receptor interactor 11 | Nie odnotowano | W 1 chorobie |
| VPS53VPS53 subunit of GARP complex | Nie odnotowano | W 1 chorobie |
| WNK3WNK lysine deficient protein kinase 3 | Nie odnotowano | W 1 chorobie |
| ZBTB20zinc finger and BTB domain containing 20 | Nie odnotowano | W 1 chorobie |
Jak często występuje wśród osób z jedną z chorób związanych z tym genem, najczęściej spośród wszystkich, według danych Human Phenotype Ontology. Te strony opisują cechy i badania, na których się opierają; nie są diagnozą, a w sprawie objawów należy zwrócić się do lekarza lub doradcy genetycznego.
Cechy podrzędne
Cechy nadrzędne
Skąd pochodzą te dane
- Human Phenotype Ontology, wydanie 2026-09-01: cecha, jej nazwy, definicja oraz geny z nią powiązane. Więcej informacji znajdą Państwo na stronie hpo.jax.org.
- Wydanie danych 2026.10.16-c6eea6bf.
Jeden test. Odpowiedzi na całe życie.
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