Tunnus
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).
Kokkuvõte
- Kehasüsteem
- Abnormality of the musculoskeletal system
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Osteoporosis, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test309 geeni on seotud tunnusega Osteoporosis
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Osteoporosis. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| ALBalbumin | Alati | Esineb 1 haiguses |
| ANTXR2ANTXR cell adhesion molecule 2 | Alati | Esineb 2 haiguses |
| ARHGEF15Rho guanine nucleotide exchange factor 15 | Alati | Esineb 1 haiguses |
| BANF1barrier to autointegration nuclear assembly factor 1 | Alati | Esineb 1 haiguses |
| BMP1bone morphogenetic protein 1 | Alati | Esineb 1 haiguses |
| ESR2estrogen receptor 2 | Alati | Esineb 1 haiguses |
| FKBP10FKBP prolyl isomerase 10 | Alati | Esineb 2 haiguses |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Alati | Esineb 1 haiguses |
| KDELR2KDEL endoplasmic reticulum protein retention receptor 2 | Alati | Esineb 1 haiguses |
| LIFRLIF receptor subunit alpha | Alati | Esineb 2 haiguses |
| MALT1MALT1 paracaspase | Alati | Esineb 1 haiguses |
| MIR2861microRNA 2861 | Alati | Esineb 1 haiguses |
| PTBP1polypyrimidine tract binding protein 1 | Alati | Esineb 1 haiguses |
| PYCR1pyrroline-5-carboxylate reductase 1 | Alati | Esineb 2 haiguses |
| SC5Dsterol-C5-desaturase | Alati | Esineb 1 haiguses |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Alati | Esineb 1 haiguses |
| SLC37A4solute carrier family 37 member 4 | Alati | Esineb 3 haiguses |
| SP7Sp7 transcription factor | Alati | Esineb 1 haiguses |
| SPARCsecreted protein acidic and cysteine rich | Alati | Esineb 1 haiguses |
| TGFBR2transforming growth factor beta receptor 2 | Alati | Esineb 1 haiguses |
| TMEM165transmembrane protein 165 | Alati | Esineb 1 haiguses |
| TMEM38Btransmembrane protein 38B | Alati | Esineb 1 haiguses |
| TMEM67transmembrane protein 67 | Alati | Esineb 1 haiguses |
| UNC13Aunc-13 homolog A | Alati | Esineb 1 haiguses |
| WRNWRN RecQ like helicase | Alati | Esineb 2 haiguses |
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ADAMTSL2ADAMTS like 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CBScystathionine beta-synthase | Väga sageli (80–99%) | Esineb 1 haiguses |
| CYB5Acytochrome b5 type A | Väga sageli (80–99%) | Esineb 1 haiguses |
| CYP11A1cytochrome P450 family 11 subfamily A member 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| CYP17A1cytochrome P450 family 17 subfamily A member 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CYP19A1cytochrome P450 family 19 subfamily A member 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| DHX37DEAH-box helicase 37 | Väga sageli (80–99%) | Esineb 1 haiguses |
| DKK1dickkopf Wnt signaling pathway inhibitor 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ESR1estrogen receptor 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GATA4GATA binding protein 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GBA1glucosylceramidase beta 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GORABgolgin, RAB6 interacting | Väga sageli (80–99%) | Esineb 2 haiguses |
| HBBhemoglobin subunit beta | Väga sageli (80–99%) | Esineb 4 haiguses |
| IFT122intraflagellar transport 122 | Väga sageli (80–99%) | Esineb 2 haiguses |
Näita veel 269 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| IFT43intraflagellar transport 43 | Väga sageli (80–99%) | Esineb 1 haiguses |
| IFT52intraflagellar transport 52 | Väga sageli (80–99%) | Esineb 1 haiguses |
| LMNAlamin A/C | Väga sageli (80–99%) | Esineb 2 haiguses |
| LRP5LDL receptor related protein 5 | Väga sageli (80–99%) | Esineb 2 haiguses |
| MAP3K1mitogen-activated protein kinase kinase kinase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MMP14matrix metallopeptidase 14 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MMP2matrix metallopeptidase 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| NOTCH2notch receptor 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| NR0B1nuclear receptor subfamily 0 group B member 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NR5A1nuclear receptor subfamily 5 group A member 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| PLOD2procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RNU4ATACRNA, U4atac small nuclear | Väga sageli (80–99%) | Esineb 1 haiguses |
| SCARB2scavenger receptor class B member 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SLC7A7solute carrier family 7 member 7 | Väga sageli (80–99%) | Esineb 2 haiguses |
| SOX9SRY-box transcription factor 9 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SRYsex determining region Y | Väga sageli (80–99%) | Esineb 1 haiguses |
| TNFRSF11ATNF receptor superfamily member 11a | Väga sageli (80–99%) | Esineb 1 haiguses |
| TNFRSF11BTNF receptor superfamily member 11b | Väga sageli (80–99%) | Esineb 2 haiguses |
| VAMP7vesicle associated membrane protein 7 | Väga sageli (80–99%) | Esineb 1 haiguses |
| WDR19WD repeat domain 19 | Väga sageli (80–99%) | Esineb 1 haiguses |
| WDR35WD repeat domain 35 | Väga sageli (80–99%) | Esineb 1 haiguses |
| WNT1Wnt family member 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| WNT3AWnt family member 3A | Väga sageli (80–99%) | Esineb 1 haiguses |
| WT1WT1 transcription factor | Väga sageli (80–99%) | Esineb 1 haiguses |
| WWOXWW domain containing oxidoreductase | Väga sageli (80–99%) | Esineb 1 haiguses |
| XYLT2xylosyltransferase 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ZFPM2zinc finger protein, FOG family member 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ABCC9ATP binding cassette subfamily C member 9 | Sageli (30–79%) | Esineb 2 haiguses |
| AIPAHR interacting HSP90 co-chaperone | Sageli (30–79%) | Esineb 2 haiguses |
| ARMC5armadillo repeat containing 5 | Sageli (30–79%) | Esineb 2 haiguses |
| ASXL1ASXL transcriptional regulator 1 | Sageli (30–79%) | Esineb 2 haiguses |
| ATP6V0A1ATPase H+ transporting V0 subunit a1 | Sageli (30–79%) | Esineb 1 haiguses |
| ATP7AATPase copper transporting alpha | Sageli (30–79%) | Esineb 4 haiguses |
| ATP7BATPase copper transporting beta | Sageli (30–79%) | Esineb 2 haiguses |
| ATRXATRX chromatin remodeler | Sageli (30–79%) | Esineb 2 haiguses |
| B3GALT6beta-1,3-galactosyltransferase 6 | Sageli (30–79%) | Esineb 2 haiguses |
| BORCS8BLOC-1 related complex subunit 8 | Sageli (30–79%) | Esineb 1 haiguses |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Sageli (30–79%) | Esineb 1 haiguses |
| CBLCbl proto-oncogene | Sageli (30–79%) | Esineb 1 haiguses |
| CDC73cell division cycle 73 | Sageli (30–79%) | Esineb 2 haiguses |
| CDH23cadherin related 23 | Sageli (30–79%) | Esineb 3 haiguses |
| CHD7chromodomain helicase DNA binding protein 7 | Sageli (30–79%) | Esineb 1 haiguses |
| COL2A1collagen type II alpha 1 chain | Sageli (30–79%) | Esineb 1 haiguses |
| CTDP1CTD phosphatase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Sageli (30–79%) | Esineb 2 haiguses |
| DUSP6dual specificity phosphatase 6 | Sageli (30–79%) | Esineb 2 haiguses |
| ELNelastin | Sageli (30–79%) | Esineb 2 haiguses |
| EMX2empty spiracles homeobox 2 | Sageli (30–79%) | Esineb 1 haiguses |
| FGF17fibroblast growth factor 17 | Sageli (30–79%) | Esineb 2 haiguses |
| FGF8fibroblast growth factor 8 | Sageli (30–79%) | Esineb 1 haiguses |
| FGFR1fibroblast growth factor receptor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| GNASGNAS complex locus | Sageli (30–79%) | Esineb 5 haiguses |
| GNRH1gonadotropin releasing hormone 1 | Sageli (30–79%) | Esineb 1 haiguses |
| GNRHRgonadotropin releasing hormone receptor | Sageli (30–79%) | Esineb 1 haiguses |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Sageli (30–79%) | Esineb 1 haiguses |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Sageli (30–79%) | Esineb 2 haiguses |
| HSPG2heparan sulfate proteoglycan 2 | Sageli (30–79%) | Esineb 2 haiguses |
| IGF1insulin like growth factor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| KCNJ8potassium inwardly rectifying channel subfamily J member 8 | Sageli (30–79%) | Esineb 1 haiguses |
| KDM1Alysine demethylase 1A | Sageli (30–79%) | Esineb 1 haiguses |
| KISS1KiSS-1 metastasis suppressor | Sageli (30–79%) | Esineb 1 haiguses |
| KISS1RKISS1 receptor | Sageli (30–79%) | Esineb 1 haiguses |
| MEN1menin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| MLXIPLMLX interacting protein like | Sageli (30–79%) | Esineb 1 haiguses |
| NGLY1N-glycanase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| NHLH2nescient helix-loop-helix 2 | Sageli (30–79%) | Esineb 1 haiguses |
| NR3C1nuclear receptor subfamily 3 group C member 1 | Sageli (30–79%) | Esineb 1 haiguses |
| NSMFNMDA receptor synaptonuclear signaling and neuronal migration factor | Sageli (30–79%) | Esineb 2 haiguses |
| PMM2phosphomannomutase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| POF1BPOF1B actin binding protein | Sageli (30–79%) | Esineb 1 haiguses |
| POLD1DNA polymerase delta 1, catalytic subunit | Sageli (30–79%) | Esineb 1 haiguses |
| POLGDNA polymerase gamma, catalytic subunit | Sageli (30–79%) | Esineb 2 haiguses |
| PPIBpeptidylprolyl isomerase B | Sageli (30–79%) | Esineb 1 haiguses |
| PRG4proteoglycan 4 | Sageli (30–79%) | Esineb 1 haiguses |
| PROK2prokineticin 2 | Sageli (30–79%) | Esineb 2 haiguses |
| PROKR2prokineticin receptor 2 | Sageli (30–79%) | Esineb 1 haiguses |
| PYGLglycogen phosphorylase L | Sageli (30–79%) | Esineb 1 haiguses |
| RIN2Ras and Rab interactor 2 | Sageli (30–79%) | Esineb 1 haiguses |
| RNU4-2RNA, U4 small nuclear 2 | Sageli (30–79%) | Esineb 1 haiguses |
| RPL10ribosomal protein L10 | Sageli (30–79%) | Esineb 2 haiguses |
| RUNX1RUNX family transcription factor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RUNX2RUNX family transcription factor 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC25A19solute carrier family 25 member 19 | Sageli (30–79%) | Esineb 1 haiguses |
| SMPD1sphingomyelin phosphodiesterase 1 | Sageli (30–79%) | Esineb 2 haiguses |
| SMSspermine synthase | Sageli (30–79%) | Esineb 2 haiguses |
| SPRY4sprouty RTK signaling antagonist 4 | Sageli (30–79%) | Esineb 1 haiguses |
| SRSF2serine and arginine rich splicing factor 2 | Sageli (30–79%) | Esineb 2 haiguses |
| STAT3signal transducer and activator of transcription 3 | Sageli (30–79%) | Esineb 1 haiguses |
| TAC3tachykinin precursor 3 | Sageli (30–79%) | Esineb 1 haiguses |
| TACR3tachykinin receptor 3 | Sageli (30–79%) | Esineb 1 haiguses |
| TBCKTBC1 domain containing kinase | Sageli (30–79%) | Esineb 2 haiguses |
| TERTtelomerase reverse transcriptase | Sageli (30–79%) | Esineb 3 haiguses |
| TET2tet methylcytosine dioxygenase 2 | Sageli (30–79%) | Esineb 2 haiguses |
| TP53tumor protein p53 | Sageli (30–79%) | Esineb 1 haiguses |
| TRMT10AtRNA methyltransferase 10A | Sageli (30–79%) | Esineb 1 haiguses |
| USP48ubiquitin specific peptidase 48 | Sageli (30–79%) | Esineb 1 haiguses |
| USP8ubiquitin specific peptidase 8 | Sageli (30–79%) | Esineb 2 haiguses |
| WDR11WD repeat domain 11 | Sageli (30–79%) | Esineb 1 haiguses |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| ADCY10adenylate cyclase 10 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ANAPC1anaphase promoting complex subunit 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ASAH1N-acylsphingosine amidohydrolase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ASXL2ASXL transcriptional regulator 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Mõnikord (5–29%) | Esineb 1 haiguses |
| BMP6bone morphogenetic protein 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| CLIP2CAP-Gly domain containing linker protein 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| COL7A1collagen type VII alpha 1 chain | Mõnikord (5–29%) | Esineb 1 haiguses |
| CPLX1complexin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CTBP1C-terminal binding protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CTC1CST telomere replication complex component 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| DKC1dyskerin pseudouridine synthase 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| EIF4Heukaryotic translation initiation factor 4H | Mõnikord (5–29%) | Esineb 1 haiguses |
| FAT4FAT atypical cadherin 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Mõnikord (5–29%) | Esineb 1 haiguses |
| GALTgalactose-1-phosphate uridylyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| GATA1GATA binding protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GGCXgamma-glutamyl carboxylase | Mõnikord (5–29%) | Esineb 1 haiguses |
| GPR35G protein-coupled receptor 35 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GTF2Igeneral transcription factor IIi | Mõnikord (5–29%) | Esineb 1 haiguses |
| GTF2IRD1GTF2I repeat domain containing 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GTF2IRD2GTF2I repeat domain containing 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HAMPhepcidin antimicrobial peptide | Mõnikord (5–29%) | Esineb 1 haiguses |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HFEhomeostatic iron regulator | Mõnikord (5–29%) | Esineb 3 haiguses |
| HJVhemojuvelin BMP co-receptor | Mõnikord (5–29%) | Esineb 1 haiguses |
| HPGD15-hydroxyprostaglandin dehydrogenase | Mõnikord (5–29%) | Esineb 2 haiguses |
| HSD3B7hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IL12Ainterleukin 12A | Mõnikord (5–29%) | Esineb 1 haiguses |
| IL12RB1interleukin 12 receptor subunit beta 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IL17RDinterleukin 17 receptor D | Mõnikord (5–29%) | Esineb 1 haiguses |
| IRF5interferon regulatory factor 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KITKIT proto-oncogene, receptor tyrosine kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| LAMA3laminin subunit alpha 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LAMB3laminin subunit beta 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LAMC2laminin subunit gamma 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LARS2leucyl-tRNA synthetase 2, mitochondrial | Mõnikord (5–29%) | Esineb 1 haiguses |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LIMK1LIM domain kinase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LMX1BLIM homeobox transcription factor 1 beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAGEL2MAGE family member L2 | Mõnikord (5–29%) | Esineb 5 haiguses |
| MED12mediator complex subunit 12 | Mõnikord (5–29%) | Esineb 1 haiguses |
| METTL27methyltransferase like 27 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MKRN3makorin ring finger protein 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MMEL1membrane metalloendopeptidase like 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MMP1matrix metallopeptidase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MST1macrophage stimulating 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Mõnikord (5–29%) | Esineb 1 haiguses |
| NCF1neutrophil cytosolic factor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NDNnecdin, MAGE family member | Mõnikord (5–29%) | Esineb 3 haiguses |
| NELFAnegative elongation factor complex member A | Mõnikord (5–29%) | Esineb 1 haiguses |
| NF1neurofibromin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NFIXnuclear factor I X | Mõnikord (5–29%) | Esineb 1 haiguses |
| NHP2NHP2 ribonucleoprotein | Mõnikord (5–29%) | Esineb 2 haiguses |
| NOP10NOP10 ribonucleoprotein | Mõnikord (5–29%) | Esineb 2 haiguses |
| NPAP1nuclear pore associated protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NPM1nucleophosmin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NSD2nuclear receptor binding SET domain protein 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| OCA2OCA2 melanosomal transmembrane protein | Mõnikord (5–29%) | Esineb 3 haiguses |
| PARNpoly(A)-specific ribonuclease | Mõnikord (5–29%) | Esineb 1 haiguses |
| PDGFRBplatelet derived growth factor receptor beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Mõnikord (5–29%) | Esineb 1 haiguses |
| POU2AF1POU class 2 homeobox associating factor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PRDM5PR/SET domain 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PRLRprolactin receptor | Mõnikord (5–29%) | Esineb 1 haiguses |
| PWAR1Prader Willi/Angelman region RNA 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RFC2replication factor C subunit 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNU7-1RNA, U7 small nuclear 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RTEL1regulator of telomere elongation helicase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SEMA4Dsemaphorin 4D | Mõnikord (5–29%) | Esineb 1 haiguses |
| SIM1SIM bHLH transcription factor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC9A6solute carrier family 9 member A6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLCO2A1solute carrier organic anion transporter family member 2A1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Mõnikord (5–29%) | Esineb 3 haiguses |
| SPIBSpi-B transcription factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| SRCSRC proto-oncogene, non-receptor tyrosine kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| STAT6signal transducer and activator of transcription 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| STX1Asyntaxin 1A | Mõnikord (5–29%) | Esineb 2 haiguses |
| TBL2transducin beta like 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TCF12transcription factor 12 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TCF4transcription factor 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TERCtelomerase RNA component | Mõnikord (5–29%) | Esineb 2 haiguses |
| TINF2TERF1 interacting nuclear factor 2 | Mõnikord (5–29%) | Esineb 3 haiguses |
| TMEM270transmembrane protein 270 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TNFSF15TNF superfamily member 15 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TNPO3transportin 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TYMSthymidylate synthetase | Mõnikord (5–29%) | Esineb 1 haiguses |
| URODuroporphyrinogen decarboxylase | Mõnikord (5–29%) | Esineb 1 haiguses |
| UROSuroporphyrinogen III synthase | Mõnikord (5–29%) | Esineb 1 haiguses |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| VKORC1vitamin K epoxide reductase complex subunit 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| VPS37DVPS37D subunit of ESCRT-I | Mõnikord (5–29%) | Esineb 1 haiguses |
| WRAP53WD repeat containing antisense to TP53 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZNF469zinc finger protein 469 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CEACAM3CEA cell adhesion molecule 3 | Harva (1–4%) | Esineb 1 haiguses |
| CEACAM6CEA cell adhesion molecule 6 | Harva (1–4%) | Esineb 1 haiguses |
| CFTRCF transmembrane conductance regulator | Harva (1–4%) | Esineb 1 haiguses |
| CLCA4chloride channel accessory 4 | Harva (1–4%) | Esineb 1 haiguses |
| CTCFCCCTC-binding factor | Harva (1–4%) | Esineb 1 haiguses |
| DCTN4dynactin subunit 4 | Harva (1–4%) | Esineb 1 haiguses |
| EDNRAendothelin receptor type A | Harva (1–4%) | Esineb 1 haiguses |
| GCLCglutamate-cysteine ligase catalytic subunit | Harva (1–4%) | Esineb 1 haiguses |
| GSTM3glutathione S-transferase mu 3 | Harva (1–4%) | Esineb 1 haiguses |
| HMOX1heme oxygenase 1 | Harva (1–4%) | Esineb 1 haiguses |
| KCNN4potassium calcium-activated channel subfamily N member 4 | Harva (1–4%) | Esineb 1 haiguses |
| MIFmacrophage migration inhibitory factor | Harva (1–4%) | Esineb 1 haiguses |
| PHKA2phosphorylase kinase regulatory subunit alpha 2 | Harva (1–4%) | Esineb 1 haiguses |
| PHKBphosphorylase kinase regulatory subunit beta | Harva (1–4%) | Esineb 1 haiguses |
| PHKG2phosphorylase kinase catalytic subunit gamma 2 | Harva (1–4%) | Esineb 1 haiguses |
| POLG2DNA polymerase gamma 2, accessory subunit | Harva (1–4%) | Esineb 1 haiguses |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Harva (1–4%) | Esineb 1 haiguses |
| SERPINA1serpin family A member 1 | Harva (1–4%) | Esineb 1 haiguses |
| SLC11A1solute carrier family 11 member 1 | Harva (1–4%) | Esineb 1 haiguses |
| SLC25A4solute carrier family 25 member 4 | Harva (1–4%) | Esineb 1 haiguses |
| SLC26A9solute carrier family 26 member 9 | Harva (1–4%) | Esineb 1 haiguses |
| SLC6A14solute carrier family 6 member 14 | Harva (1–4%) | Esineb 1 haiguses |
| SLC9A3solute carrier family 9 member A3 | Harva (1–4%) | Esineb 1 haiguses |
| SMAD3SMAD family member 3 | Harva (1–4%) | Esineb 1 haiguses |
| TGFB1transforming growth factor beta 1 | Harva (1–4%) | Esineb 1 haiguses |
| TWNKtwinkle mtDNA helicase | Harva (1–4%) | Esineb 1 haiguses |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Pole registreeritud | Esineb 1 haiguses |
| BMP2bone morphogenetic protein 2 | Pole registreeritud | Esineb 1 haiguses |
| CALCRcalcitonin receptor | Pole registreeritud | Esineb 1 haiguses |
| CANT1calcium activated nucleotidase 1 | Pole registreeritud | Esineb 1 haiguses |
| CAVIN1caveolae associated protein 1 | Pole registreeritud | Esineb 1 haiguses |
| CCN6cellular communication network factor 6 | Pole registreeritud | Esineb 1 haiguses |
| CHST3carbohydrate sulfotransferase 3 | Pole registreeritud | Esineb 1 haiguses |
| COL1A1collagen type I alpha 1 chain | Pole registreeritud | Esineb 1 haiguses |
| COL1A2collagen type I alpha 2 chain | Pole registreeritud | Esineb 1 haiguses |
| EIF2AK3eukaryotic translation initiation factor 2 alpha kinase 3 | Pole registreeritud | Esineb 1 haiguses |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Pole registreeritud | Esineb 2 haiguses |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Pole registreeritud | Esineb 1 haiguses |
| FSHRfollicle stimulating hormone receptor | Pole registreeritud | Esineb 1 haiguses |
| G6PC1glucose-6-phosphatase catalytic subunit 1 | Pole registreeritud | Esineb 1 haiguses |
| GALNSgalactosamine (N-acetyl)-6-sulfatase | Pole registreeritud | Esineb 1 haiguses |
| GKglycerol kinase | Pole registreeritud | Esineb 1 haiguses |
| GLB1galactosidase beta 1 | Pole registreeritud | Esineb 1 haiguses |
| HLA-DQA1major histocompatibility complex, class II, DQ alpha 1 | Pole registreeritud | Esineb 1 haiguses |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Pole registreeritud | Esineb 1 haiguses |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Pole registreeritud | Esineb 1 haiguses |
| IFIH1interferon induced with helicase C domain 1 | Pole registreeritud | Esineb 1 haiguses |
| LRP6LDL receptor related protein 6 | Pole registreeritud | Esineb 1 haiguses |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Pole registreeritud | Esineb 1 haiguses |
| NHERF1NHERF family PDZ scaffold protein 1 | Pole registreeritud | Esineb 1 haiguses |
| PCCApropionyl-CoA carboxylase subunit alpha | Pole registreeritud | Esineb 1 haiguses |
| PCCBpropionyl-CoA carboxylase subunit beta | Pole registreeritud | Esineb 1 haiguses |
| PDE11Aphosphodiesterase 11A | Pole registreeritud | Esineb 1 haiguses |
| PDLIM4PDZ and LIM domain 4 | Pole registreeritud | Esineb 1 haiguses |
| PEX12peroxisomal biogenesis factor 12 | Pole registreeritud | Esineb 1 haiguses |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Pole registreeritud | Esineb 1 haiguses |
| PRKACAprotein kinase cAMP-activated catalytic subunit alpha | Pole registreeritud | Esineb 1 haiguses |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Pole registreeritud | Esineb 1 haiguses |
| PSTPIP1proline-serine-threonine phosphatase interacting protein 1 | Pole registreeritud | Esineb 1 haiguses |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Pole registreeritud | Esineb 1 haiguses |
| RECQL4RecQ like helicase 4 | Pole registreeritud | Esineb 1 haiguses |
| RPL11ribosomal protein L11 | Pole registreeritud | Esineb 1 haiguses |
| SGMS2sphingomyelin synthase 2 | Pole registreeritud | Esineb 1 haiguses |
| SH3PXD2BSH3 and PX domains 2B | Pole registreeritud | Esineb 1 haiguses |
| SLC34A1solute carrier family 34 member 1 | Pole registreeritud | Esineb 1 haiguses |
| TRIP11thyroid hormone receptor interactor 11 | Pole registreeritud | Esineb 1 haiguses |
| VPS53VPS53 subunit of GARP complex | Pole registreeritud | Esineb 1 haiguses |
| WNK3WNK lysine deficient protein kinase 3 | Pole registreeritud | Esineb 1 haiguses |
| ZBTB20zinc finger and BTB domain containing 20 | Pole registreeritud | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Kitsamad tunnused
Laiemad tunnused
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.16-c6eea6bf.
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast