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Požymis
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).
Santrauka
- Kūno sistema
- Abnormality of the musculoskeletal system
OsteoporosisHP:0000939
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PrisijungtiKlaustiPradėtinuo 449 $
Read the genes linked to Osteoporosis, and the rest of your genome, with one test.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites
Įsigyti savo Genome Test309 genų susiję su Osteoporosis
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Osteoporosis. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| ALBalbumin | Visada | 1 ligoje |
| ANTXR2ANTXR cell adhesion molecule 2 | Visada | 2 ligose |
| ARHGEF15Rho guanine nucleotide exchange factor 15 | Visada | 1 ligoje |
| BANF1barrier to autointegration nuclear assembly factor 1 | Visada | 1 ligoje |
| BMP1bone morphogenetic protein 1 | Visada | 1 ligoje |
| ESR2estrogen receptor 2 | Visada | 1 ligoje |
| FKBP10FKBP prolyl isomerase 10 | Visada | 2 ligose |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Visada | 1 ligoje |
| KDELR2KDEL endoplasmic reticulum protein retention receptor 2 | Visada | 1 ligoje |
| LIFRLIF receptor subunit alpha | Visada | 2 ligose |
| MALT1MALT1 paracaspase | Visada | 1 ligoje |
| MIR2861microRNA 2861 | Visada | 1 ligoje |
| PTBP1polypyrimidine tract binding protein 1 | Visada | 1 ligoje |
| PYCR1pyrroline-5-carboxylate reductase 1 | Visada | 2 ligose |
| SC5Dsterol-C5-desaturase | Visada | 1 ligoje |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Visada | 1 ligoje |
| SLC37A4solute carrier family 37 member 4 | Visada | 3 ligose |
| SP7Sp7 transcription factor | Visada | 1 ligoje |
| SPARCsecreted protein acidic and cysteine rich | Visada | 1 ligoje |
| TGFBR2transforming growth factor beta receptor 2 | Visada | 1 ligoje |
| TMEM165transmembrane protein 165 | Visada | 1 ligoje |
| TMEM38Btransmembrane protein 38B | Visada | 1 ligoje |
| TMEM67transmembrane protein 67 | Visada | 1 ligoje |
| UNC13Aunc-13 homolog A | Visada | 1 ligoje |
| WRNWRN RecQ like helicase | Visada | 2 ligose |
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Labai dažnai (80–99%) | 1 ligoje |
| ADAMTSL2ADAMTS like 2 | Labai dažnai (80–99%) | 1 ligoje |
| CBScystathionine beta-synthase | Labai dažnai (80–99%) | 1 ligoje |
| CYB5Acytochrome b5 type A | Labai dažnai (80–99%) | 1 ligoje |
| CYP11A1cytochrome P450 family 11 subfamily A member 1 | Labai dažnai (80–99%) | 2 ligose |
| CYP17A1cytochrome P450 family 17 subfamily A member 1 | Labai dažnai (80–99%) | 1 ligoje |
| CYP19A1cytochrome P450 family 19 subfamily A member 1 | Labai dažnai (80–99%) | 1 ligoje |
| DHX37DEAH-box helicase 37 | Labai dažnai (80–99%) | 1 ligoje |
| DKK1dickkopf Wnt signaling pathway inhibitor 1 | Labai dažnai (80–99%) | 1 ligoje |
| ESR1estrogen receptor 1 | Labai dažnai (80–99%) | 1 ligoje |
| GATA4GATA binding protein 4 | Labai dažnai (80–99%) | 1 ligoje |
| GBA1glucosylceramidase beta 1 | Labai dažnai (80–99%) | 1 ligoje |
| GORABgolgin, RAB6 interacting | Labai dažnai (80–99%) | 2 ligose |
| HBBhemoglobin subunit beta | Labai dažnai (80–99%) | 4 ligose |
| IFT122intraflagellar transport 122 | Labai dažnai (80–99%) | 2 ligose |
Rodyti dar 269 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| IFT43intraflagellar transport 43 | Labai dažnai (80–99%) | 1 ligoje |
| IFT52intraflagellar transport 52 | Labai dažnai (80–99%) | 1 ligoje |
| LMNAlamin A/C | Labai dažnai (80–99%) | 2 ligose |
| LRP5LDL receptor related protein 5 | Labai dažnai (80–99%) | 2 ligose |
| MAP3K1mitogen-activated protein kinase kinase kinase 1 | Labai dažnai (80–99%) | 1 ligoje |
| MMP14matrix metallopeptidase 14 | Labai dažnai (80–99%) | 1 ligoje |
| MMP2matrix metallopeptidase 2 | Labai dažnai (80–99%) | 2 ligose |
| NOTCH2notch receptor 2 | Labai dažnai (80–99%) | 2 ligose |
| NR0B1nuclear receptor subfamily 0 group B member 1 | Labai dažnai (80–99%) | 1 ligoje |
| NR5A1nuclear receptor subfamily 5 group A member 1 | Labai dažnai (80–99%) | 1 ligoje |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Labai dažnai (80–99%) | 2 ligose |
| PLOD2procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 | Labai dažnai (80–99%) | 1 ligoje |
| RNU4ATACRNA, U4atac small nuclear | Labai dažnai (80–99%) | 1 ligoje |
| SCARB2scavenger receptor class B member 2 | Labai dažnai (80–99%) | 1 ligoje |
| SLC7A7solute carrier family 7 member 7 | Labai dažnai (80–99%) | 2 ligose |
| SOX9SRY-box transcription factor 9 | Labai dažnai (80–99%) | 1 ligoje |
| SRYsex determining region Y | Labai dažnai (80–99%) | 1 ligoje |
| TNFRSF11ATNF receptor superfamily member 11a | Labai dažnai (80–99%) | 1 ligoje |
| TNFRSF11BTNF receptor superfamily member 11b | Labai dažnai (80–99%) | 2 ligose |
| VAMP7vesicle associated membrane protein 7 | Labai dažnai (80–99%) | 1 ligoje |
| WDR19WD repeat domain 19 | Labai dažnai (80–99%) | 1 ligoje |
| WDR35WD repeat domain 35 | Labai dažnai (80–99%) | 1 ligoje |
| WNT1Wnt family member 1 | Labai dažnai (80–99%) | 1 ligoje |
| WNT3AWnt family member 3A | Labai dažnai (80–99%) | 1 ligoje |
| WT1WT1 transcription factor | Labai dažnai (80–99%) | 1 ligoje |
| WWOXWW domain containing oxidoreductase | Labai dažnai (80–99%) | 1 ligoje |
| XYLT2xylosyltransferase 2 | Labai dažnai (80–99%) | 1 ligoje |
| ZFPM2zinc finger protein, FOG family member 2 | Labai dažnai (80–99%) | 1 ligoje |
| ABCC9ATP binding cassette subfamily C member 9 | Dažnai (30–79%) | 2 ligose |
| AIPAHR interacting HSP90 co-chaperone | Dažnai (30–79%) | 2 ligose |
| ARMC5armadillo repeat containing 5 | Dažnai (30–79%) | 2 ligose |
| ASXL1ASXL transcriptional regulator 1 | Dažnai (30–79%) | 2 ligose |
| ATP6V0A1ATPase H+ transporting V0 subunit a1 | Dažnai (30–79%) | 1 ligoje |
| ATP7AATPase copper transporting alpha | Dažnai (30–79%) | 4 ligose |
| ATP7BATPase copper transporting beta | Dažnai (30–79%) | 2 ligose |
| ATRXATRX chromatin remodeler | Dažnai (30–79%) | 2 ligose |
| B3GALT6beta-1,3-galactosyltransferase 6 | Dažnai (30–79%) | 2 ligose |
| BORCS8BLOC-1 related complex subunit 8 | Dažnai (30–79%) | 1 ligoje |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Dažnai (30–79%) | 1 ligoje |
| CBLCbl proto-oncogene | Dažnai (30–79%) | 1 ligoje |
| CDC73cell division cycle 73 | Dažnai (30–79%) | 2 ligose |
| CDH23cadherin related 23 | Dažnai (30–79%) | 3 ligose |
| CHD7chromodomain helicase DNA binding protein 7 | Dažnai (30–79%) | 1 ligoje |
| COL2A1collagen type II alpha 1 chain | Dažnai (30–79%) | 1 ligoje |
| CTDP1CTD phosphatase 1 | Dažnai (30–79%) | 1 ligoje |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Dažnai (30–79%) | 2 ligose |
| DUSP6dual specificity phosphatase 6 | Dažnai (30–79%) | 2 ligose |
| ELNelastin | Dažnai (30–79%) | 2 ligose |
| EMX2empty spiracles homeobox 2 | Dažnai (30–79%) | 1 ligoje |
| FGF17fibroblast growth factor 17 | Dažnai (30–79%) | 2 ligose |
| FGF8fibroblast growth factor 8 | Dažnai (30–79%) | 1 ligoje |
| FGFR1fibroblast growth factor receptor 1 | Dažnai (30–79%) | 1 ligoje |
| GNASGNAS complex locus | Dažnai (30–79%) | 5 ligose |
| GNRH1gonadotropin releasing hormone 1 | Dažnai (30–79%) | 1 ligoje |
| GNRHRgonadotropin releasing hormone receptor | Dažnai (30–79%) | 1 ligoje |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Dažnai (30–79%) | 1 ligoje |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Dažnai (30–79%) | 2 ligose |
| HSPG2heparan sulfate proteoglycan 2 | Dažnai (30–79%) | 2 ligose |
| IGF1insulin like growth factor 1 | Dažnai (30–79%) | 1 ligoje |
| KCNJ8potassium inwardly rectifying channel subfamily J member 8 | Dažnai (30–79%) | 1 ligoje |
| KDM1Alysine demethylase 1A | Dažnai (30–79%) | 1 ligoje |
| KISS1KiSS-1 metastasis suppressor | Dažnai (30–79%) | 1 ligoje |
| KISS1RKISS1 receptor | Dažnai (30–79%) | 1 ligoje |
| MEN1menin 1 | Dažnai (30–79%) | 1 ligoje |
| MLXIPLMLX interacting protein like | Dažnai (30–79%) | 1 ligoje |
| NGLY1N-glycanase 1 | Dažnai (30–79%) | 1 ligoje |
| NHLH2nescient helix-loop-helix 2 | Dažnai (30–79%) | 1 ligoje |
| NR3C1nuclear receptor subfamily 3 group C member 1 | Dažnai (30–79%) | 1 ligoje |
| NSMFNMDA receptor synaptonuclear signaling and neuronal migration factor | Dažnai (30–79%) | 2 ligose |
| PMM2phosphomannomutase 2 | Dažnai (30–79%) | 1 ligoje |
| POF1BPOF1B actin binding protein | Dažnai (30–79%) | 1 ligoje |
| POLD1DNA polymerase delta 1, catalytic subunit | Dažnai (30–79%) | 1 ligoje |
| POLGDNA polymerase gamma, catalytic subunit | Dažnai (30–79%) | 2 ligose |
| PPIBpeptidylprolyl isomerase B | Dažnai (30–79%) | 1 ligoje |
| PRG4proteoglycan 4 | Dažnai (30–79%) | 1 ligoje |
| PROK2prokineticin 2 | Dažnai (30–79%) | 2 ligose |
| PROKR2prokineticin receptor 2 | Dažnai (30–79%) | 1 ligoje |
| PYGLglycogen phosphorylase L | Dažnai (30–79%) | 1 ligoje |
| RIN2Ras and Rab interactor 2 | Dažnai (30–79%) | 1 ligoje |
| RNU4-2RNA, U4 small nuclear 2 | Dažnai (30–79%) | 1 ligoje |
| RPL10ribosomal protein L10 | Dažnai (30–79%) | 2 ligose |
| RUNX1RUNX family transcription factor 1 | Dažnai (30–79%) | 1 ligoje |
| RUNX2RUNX family transcription factor 2 | Dažnai (30–79%) | 1 ligoje |
| SLC25A19solute carrier family 25 member 19 | Dažnai (30–79%) | 1 ligoje |
| SMPD1sphingomyelin phosphodiesterase 1 | Dažnai (30–79%) | 2 ligose |
| SMSspermine synthase | Dažnai (30–79%) | 2 ligose |
| SPRY4sprouty RTK signaling antagonist 4 | Dažnai (30–79%) | 1 ligoje |
| SRSF2serine and arginine rich splicing factor 2 | Dažnai (30–79%) | 2 ligose |
| STAT3signal transducer and activator of transcription 3 | Dažnai (30–79%) | 1 ligoje |
| TAC3tachykinin precursor 3 | Dažnai (30–79%) | 1 ligoje |
| TACR3tachykinin receptor 3 | Dažnai (30–79%) | 1 ligoje |
| TBCKTBC1 domain containing kinase | Dažnai (30–79%) | 2 ligose |
| TERTtelomerase reverse transcriptase | Dažnai (30–79%) | 3 ligose |
| TET2tet methylcytosine dioxygenase 2 | Dažnai (30–79%) | 2 ligose |
| TP53tumor protein p53 | Dažnai (30–79%) | 1 ligoje |
| TRMT10AtRNA methyltransferase 10A | Dažnai (30–79%) | 1 ligoje |
| USP48ubiquitin specific peptidase 48 | Dažnai (30–79%) | 1 ligoje |
| USP8ubiquitin specific peptidase 8 | Dažnai (30–79%) | 2 ligose |
| WDR11WD repeat domain 11 | Dažnai (30–79%) | 1 ligoje |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Kartais (5–29%) | 1 ligoje |
| ADCY10adenylate cyclase 10 | Kartais (5–29%) | 1 ligoje |
| ANAPC1anaphase promoting complex subunit 1 | Kartais (5–29%) | 1 ligoje |
| ASAH1N-acylsphingosine amidohydrolase 1 | Kartais (5–29%) | 1 ligoje |
| ASXL2ASXL transcriptional regulator 2 | Kartais (5–29%) | 1 ligoje |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Kartais (5–29%) | 1 ligoje |
| BMP6bone morphogenetic protein 6 | Kartais (5–29%) | 1 ligoje |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Kartais (5–29%) | 1 ligoje |
| CLIP2CAP-Gly domain containing linker protein 2 | Kartais (5–29%) | 1 ligoje |
| COL7A1collagen type VII alpha 1 chain | Kartais (5–29%) | 1 ligoje |
| CPLX1complexin 1 | Kartais (5–29%) | 1 ligoje |
| CTBP1C-terminal binding protein 1 | Kartais (5–29%) | 1 ligoje |
| CTC1CST telomere replication complex component 1 | Kartais (5–29%) | 2 ligose |
| DKC1dyskerin pseudouridine synthase 1 | Kartais (5–29%) | 2 ligose |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Kartais (5–29%) | 1 ligoje |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Kartais (5–29%) | 1 ligoje |
| EIF4Heukaryotic translation initiation factor 4H | Kartais (5–29%) | 1 ligoje |
| FAT4FAT atypical cadherin 4 | Kartais (5–29%) | 1 ligoje |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Kartais (5–29%) | 1 ligoje |
| GALTgalactose-1-phosphate uridylyltransferase | Kartais (5–29%) | 1 ligoje |
| GATA1GATA binding protein 1 | Kartais (5–29%) | 1 ligoje |
| GGCXgamma-glutamyl carboxylase | Kartais (5–29%) | 1 ligoje |
| GPR35G protein-coupled receptor 35 | Kartais (5–29%) | 1 ligoje |
| GTF2Igeneral transcription factor IIi | Kartais (5–29%) | 1 ligoje |
| GTF2IRD1GTF2I repeat domain containing 1 | Kartais (5–29%) | 1 ligoje |
| GTF2IRD2GTF2I repeat domain containing 2 | Kartais (5–29%) | 1 ligoje |
| HAMPhepcidin antimicrobial peptide | Kartais (5–29%) | 1 ligoje |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Kartais (5–29%) | 1 ligoje |
| HFEhomeostatic iron regulator | Kartais (5–29%) | 3 ligose |
| HJVhemojuvelin BMP co-receptor | Kartais (5–29%) | 1 ligoje |
| HPGD15-hydroxyprostaglandin dehydrogenase | Kartais (5–29%) | 2 ligose |
| HSD3B7hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Kartais (5–29%) | 1 ligoje |
| IL12Ainterleukin 12A | Kartais (5–29%) | 1 ligoje |
| IL12RB1interleukin 12 receptor subunit beta 1 | Kartais (5–29%) | 1 ligoje |
| IL17RDinterleukin 17 receptor D | Kartais (5–29%) | 1 ligoje |
| IRF5interferon regulatory factor 5 | Kartais (5–29%) | 1 ligoje |
| KITKIT proto-oncogene, receptor tyrosine kinase | Kartais (5–29%) | 1 ligoje |
| LAMA3laminin subunit alpha 3 | Kartais (5–29%) | 1 ligoje |
| LAMB3laminin subunit beta 3 | Kartais (5–29%) | 1 ligoje |
| LAMC2laminin subunit gamma 2 | Kartais (5–29%) | 1 ligoje |
| LARS2leucyl-tRNA synthetase 2, mitochondrial | Kartais (5–29%) | 1 ligoje |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Kartais (5–29%) | 1 ligoje |
| LIMK1LIM domain kinase 1 | Kartais (5–29%) | 1 ligoje |
| LMX1BLIM homeobox transcription factor 1 beta | Kartais (5–29%) | 1 ligoje |
| MAGEL2MAGE family member L2 | Kartais (5–29%) | 5 ligose |
| MED12mediator complex subunit 12 | Kartais (5–29%) | 1 ligoje |
| METTL27methyltransferase like 27 | Kartais (5–29%) | 1 ligoje |
| MKRN3makorin ring finger protein 3 | Kartais (5–29%) | 1 ligoje |
| MMEL1membrane metalloendopeptidase like 1 | Kartais (5–29%) | 1 ligoje |
| MMP1matrix metallopeptidase 1 | Kartais (5–29%) | 1 ligoje |
| MST1macrophage stimulating 1 | Kartais (5–29%) | 1 ligoje |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Kartais (5–29%) | 1 ligoje |
| NCF1neutrophil cytosolic factor 1 | Kartais (5–29%) | 1 ligoje |
| NDNnecdin, MAGE family member | Kartais (5–29%) | 3 ligose |
| NELFAnegative elongation factor complex member A | Kartais (5–29%) | 1 ligoje |
| NF1neurofibromin 1 | Kartais (5–29%) | 1 ligoje |
| NFIXnuclear factor I X | Kartais (5–29%) | 1 ligoje |
| NHP2NHP2 ribonucleoprotein | Kartais (5–29%) | 2 ligose |
| NOP10NOP10 ribonucleoprotein | Kartais (5–29%) | 2 ligose |
| NPAP1nuclear pore associated protein 1 | Kartais (5–29%) | 1 ligoje |
| NPM1nucleophosmin 1 | Kartais (5–29%) | 1 ligoje |
| NSD2nuclear receptor binding SET domain protein 2 | Kartais (5–29%) | 1 ligoje |
| OCA2OCA2 melanosomal transmembrane protein | Kartais (5–29%) | 3 ligose |
| PARNpoly(A)-specific ribonuclease | Kartais (5–29%) | 1 ligoje |
| PDGFRBplatelet derived growth factor receptor beta | Kartais (5–29%) | 1 ligoje |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Kartais (5–29%) | 1 ligoje |
| POU2AF1POU class 2 homeobox associating factor 1 | Kartais (5–29%) | 1 ligoje |
| PRDM5PR/SET domain 5 | Kartais (5–29%) | 1 ligoje |
| PRLRprolactin receptor | Kartais (5–29%) | 1 ligoje |
| PWAR1Prader Willi/Angelman region RNA 1 | Kartais (5–29%) | 1 ligoje |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Kartais (5–29%) | 1 ligoje |
| RFC2replication factor C subunit 2 | Kartais (5–29%) | 1 ligoje |
| RNU7-1RNA, U7 small nuclear 1 | Kartais (5–29%) | 1 ligoje |
| RTEL1regulator of telomere elongation helicase 1 | Kartais (5–29%) | 1 ligoje |
| SEMA4Dsemaphorin 4D | Kartais (5–29%) | 1 ligoje |
| SIM1SIM bHLH transcription factor 1 | Kartais (5–29%) | 1 ligoje |
| SLC9A6solute carrier family 9 member A6 | Kartais (5–29%) | 1 ligoje |
| SLCO2A1solute carrier organic anion transporter family member 2A1 | Kartais (5–29%) | 1 ligoje |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Kartais (5–29%) | 1 ligoje |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Kartais (5–29%) | 1 ligoje |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Kartais (5–29%) | 3 ligose |
| SPIBSpi-B transcription factor | Kartais (5–29%) | 1 ligoje |
| SRCSRC proto-oncogene, non-receptor tyrosine kinase | Kartais (5–29%) | 1 ligoje |
| STAT6signal transducer and activator of transcription 6 | Kartais (5–29%) | 1 ligoje |
| STX1Asyntaxin 1A | Kartais (5–29%) | 2 ligose |
| TBL2transducin beta like 2 | Kartais (5–29%) | 1 ligoje |
| TCF12transcription factor 12 | Kartais (5–29%) | 1 ligoje |
| TCF4transcription factor 4 | Kartais (5–29%) | 1 ligoje |
| TERCtelomerase RNA component | Kartais (5–29%) | 2 ligose |
| TINF2TERF1 interacting nuclear factor 2 | Kartais (5–29%) | 3 ligose |
| TMEM270transmembrane protein 270 | Kartais (5–29%) | 1 ligoje |
| TNFSF15TNF superfamily member 15 | Kartais (5–29%) | 1 ligoje |
| TNPO3transportin 3 | Kartais (5–29%) | 1 ligoje |
| TYMSthymidylate synthetase | Kartais (5–29%) | 1 ligoje |
| URODuroporphyrinogen decarboxylase | Kartais (5–29%) | 1 ligoje |
| UROSuroporphyrinogen III synthase | Kartais (5–29%) | 1 ligoje |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Kartais (5–29%) | 1 ligoje |
| VKORC1vitamin K epoxide reductase complex subunit 1 | Kartais (5–29%) | 1 ligoje |
| VPS37DVPS37D subunit of ESCRT-I | Kartais (5–29%) | 1 ligoje |
| WRAP53WD repeat containing antisense to TP53 | Kartais (5–29%) | 1 ligoje |
| ZNF469zinc finger protein 469 | Kartais (5–29%) | 1 ligoje |
| CEACAM3CEA cell adhesion molecule 3 | Retai (1–4 %) | 1 ligoje |
| CEACAM6CEA cell adhesion molecule 6 | Retai (1–4 %) | 1 ligoje |
| CFTRCF transmembrane conductance regulator | Retai (1–4 %) | 1 ligoje |
| CLCA4chloride channel accessory 4 | Retai (1–4 %) | 1 ligoje |
| CTCFCCCTC-binding factor | Retai (1–4 %) | 1 ligoje |
| DCTN4dynactin subunit 4 | Retai (1–4 %) | 1 ligoje |
| EDNRAendothelin receptor type A | Retai (1–4 %) | 1 ligoje |
| GCLCglutamate-cysteine ligase catalytic subunit | Retai (1–4 %) | 1 ligoje |
| GSTM3glutathione S-transferase mu 3 | Retai (1–4 %) | 1 ligoje |
| HMOX1heme oxygenase 1 | Retai (1–4 %) | 1 ligoje |
| KCNN4potassium calcium-activated channel subfamily N member 4 | Retai (1–4 %) | 1 ligoje |
| MIFmacrophage migration inhibitory factor | Retai (1–4 %) | 1 ligoje |
| PHKA2phosphorylase kinase regulatory subunit alpha 2 | Retai (1–4 %) | 1 ligoje |
| PHKBphosphorylase kinase regulatory subunit beta | Retai (1–4 %) | 1 ligoje |
| PHKG2phosphorylase kinase catalytic subunit gamma 2 | Retai (1–4 %) | 1 ligoje |
| POLG2DNA polymerase gamma 2, accessory subunit | Retai (1–4 %) | 1 ligoje |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Retai (1–4 %) | 1 ligoje |
| SERPINA1serpin family A member 1 | Retai (1–4 %) | 1 ligoje |
| SLC11A1solute carrier family 11 member 1 | Retai (1–4 %) | 1 ligoje |
| SLC25A4solute carrier family 25 member 4 | Retai (1–4 %) | 1 ligoje |
| SLC26A9solute carrier family 26 member 9 | Retai (1–4 %) | 1 ligoje |
| SLC6A14solute carrier family 6 member 14 | Retai (1–4 %) | 1 ligoje |
| SLC9A3solute carrier family 9 member A3 | Retai (1–4 %) | 1 ligoje |
| SMAD3SMAD family member 3 | Retai (1–4 %) | 1 ligoje |
| TGFB1transforming growth factor beta 1 | Retai (1–4 %) | 1 ligoje |
| TWNKtwinkle mtDNA helicase | Retai (1–4 %) | 1 ligoje |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Neužfiksuota | 1 ligoje |
| BMP2bone morphogenetic protein 2 | Neužfiksuota | 1 ligoje |
| CALCRcalcitonin receptor | Neužfiksuota | 1 ligoje |
| CANT1calcium activated nucleotidase 1 | Neužfiksuota | 1 ligoje |
| CAVIN1caveolae associated protein 1 | Neužfiksuota | 1 ligoje |
| CCN6cellular communication network factor 6 | Neužfiksuota | 1 ligoje |
| CHST3carbohydrate sulfotransferase 3 | Neužfiksuota | 1 ligoje |
| COL1A1collagen type I alpha 1 chain | Neužfiksuota | 1 ligoje |
| COL1A2collagen type I alpha 2 chain | Neužfiksuota | 1 ligoje |
| EIF2AK3eukaryotic translation initiation factor 2 alpha kinase 3 | Neužfiksuota | 1 ligoje |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Neužfiksuota | 2 ligose |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Neužfiksuota | 1 ligoje |
| FSHRfollicle stimulating hormone receptor | Neužfiksuota | 1 ligoje |
| G6PC1glucose-6-phosphatase catalytic subunit 1 | Neužfiksuota | 1 ligoje |
| GALNSgalactosamine (N-acetyl)-6-sulfatase | Neužfiksuota | 1 ligoje |
| GKglycerol kinase | Neužfiksuota | 1 ligoje |
| GLB1galactosidase beta 1 | Neužfiksuota | 1 ligoje |
| HLA-DQA1major histocompatibility complex, class II, DQ alpha 1 | Neužfiksuota | 1 ligoje |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Neužfiksuota | 1 ligoje |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Neužfiksuota | 1 ligoje |
| IFIH1interferon induced with helicase C domain 1 | Neužfiksuota | 1 ligoje |
| LRP6LDL receptor related protein 6 | Neužfiksuota | 1 ligoje |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Neužfiksuota | 1 ligoje |
| NHERF1NHERF family PDZ scaffold protein 1 | Neužfiksuota | 1 ligoje |
| PCCApropionyl-CoA carboxylase subunit alpha | Neužfiksuota | 1 ligoje |
| PCCBpropionyl-CoA carboxylase subunit beta | Neužfiksuota | 1 ligoje |
| PDE11Aphosphodiesterase 11A | Neužfiksuota | 1 ligoje |
| PDLIM4PDZ and LIM domain 4 | Neužfiksuota | 1 ligoje |
| PEX12peroxisomal biogenesis factor 12 | Neužfiksuota | 1 ligoje |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Neužfiksuota | 1 ligoje |
| PRKACAprotein kinase cAMP-activated catalytic subunit alpha | Neužfiksuota | 1 ligoje |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Neužfiksuota | 1 ligoje |
| PSTPIP1proline-serine-threonine phosphatase interacting protein 1 | Neužfiksuota | 1 ligoje |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Neužfiksuota | 1 ligoje |
| RECQL4RecQ like helicase 4 | Neužfiksuota | 1 ligoje |
| RPL11ribosomal protein L11 | Neužfiksuota | 1 ligoje |
| SGMS2sphingomyelin synthase 2 | Neužfiksuota | 1 ligoje |
| SH3PXD2BSH3 and PX domains 2B | Neužfiksuota | 1 ligoje |
| SLC34A1solute carrier family 34 member 1 | Neužfiksuota | 1 ligoje |
| TRIP11thyroid hormone receptor interactor 11 | Neužfiksuota | 1 ligoje |
| VPS53VPS53 subunit of GARP complex | Neužfiksuota | 1 ligoje |
| WNK3WNK lysine deficient protein kinase 3 | Neužfiksuota | 1 ligoje |
| ZBTB20zinc finger and BTB domain containing 20 | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
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Iš kur tai žinoma
- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.16-c6eea6bf.
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