Cecha
Osteopenia
Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.
Podsumowanie
- Znana także jako
- Generalised osteopenia, Generalized osteopenia, Osteopaenia
- 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 Osteopenia, and the rest of your genome, with one test.
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Zamawiam Genome Test341 genów powiązanych z Osteopenia
Zmiany w tych genach powodują rzadkie choroby, w których występuje Osteopenia. 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 |
|---|---|---|
| AEBP1AE binding protein 1 | Zawsze | W 2 chorobach |
| ANTXR2ANTXR cell adhesion molecule 2 | Zawsze | W 2 chorobach |
| B3GALT6beta-1,3-galactosyltransferase 6 | Zawsze | W 3 chorobach |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Zawsze | W 1 chorobie |
| COPB2coat protein complex I subunit beta 2 | Zawsze | W 1 chorobie |
| CRIPTCXXC repeat containing interactor of PDZ3 domain | Zawsze | W 1 chorobie |
| DDOSTdolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit | Zawsze | W 2 chorobach |
| ERI1exoribonuclease 1 | Zawsze | W 1 chorobie |
| ESR1estrogen receptor 1 | Zawsze | W 2 chorobach |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Zawsze | W 1 chorobie |
| FKBP10FKBP prolyl isomerase 10 | Zawsze | W 1 chorobie |
| GORABgolgin, RAB6 interacting | Zawsze | W 1 chorobie |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Zawsze | W 2 chorobach |
| HNRNPH1heterogeneous nuclear ribonucleoprotein H1 | Zawsze | W 1 chorobie |
| IFITM5interferon induced transmembrane protein 5 | Zawsze | W 1 chorobie |
| IFT140intraflagellar transport 140 | Zawsze | W 1 chorobie |
| IGF1insulin like growth factor 1 | Zawsze | W 1 chorobie |
| IKZF2IKAROS family zinc finger 2 | Zawsze | W 1 chorobie |
| IL1RNinterleukin 1 receptor antagonist | Zawsze | W 1 chorobie |
| JPH1junctophilin 1 | Zawsze | W 1 chorobie |
| KLklotho | Zawsze | W 1 chorobie |
| LAMA5laminin subunit alpha 5 | Zawsze | W 1 chorobie |
| LMNAlamin A/C | Zawsze | W 3 chorobach |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Zawsze | W 1 chorobie |
| NPR2natriuretic peptide receptor 2 | Zawsze | W 1 chorobie |
| P3H1prolyl 3-hydroxylase 1 | Zawsze | W 1 chorobie |
| P4HBprolyl 4-hydroxylase subunit beta | Zawsze | W 1 chorobie |
| PAPPA2pappalysin 2 | Zawsze | W 1 chorobie |
| PHLDB1pleckstrin homology like domain family B member 1 | Zawsze | W 1 chorobie |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Zawsze | W 1 chorobie |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Zawsze | W 1 chorobie |
| PLEKHM1pleckstrin homology and RUN domain containing M1 | Zawsze | W 1 chorobie |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Zawsze | W 2 chorobach |
| PLOD3procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | Zawsze | W 1 chorobie |
| RBSNrabenosyn, RAB effector | Zawsze | W 2 chorobach |
| RFC4replication factor C subunit 4 | Zawsze | W 1 chorobie |
| SEC24DSEC24 homolog D, COPII component | Zawsze | W 1 chorobie |
| SERPINH1serpin family H member 1 | Zawsze | W 1 chorobie |
| SLC34A1solute carrier family 34 member 1 | Zawsze | W 2 chorobach |
| STN1STN1 subunit of CST complex | Zawsze | W 1 chorobie |
Pokaż jeszcze 301 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| STX3syntaxin 3 | Zawsze | W 2 chorobach |
| TMEM38Btransmembrane protein 38B | Zawsze | W 1 chorobie |
| TMEM67transmembrane protein 67 | Zawsze | W 2 chorobach |
| TNFRSF11BTNF receptor superfamily member 11b | Zawsze | W 1 chorobie |
| UNC13Aunc-13 homolog A | Zawsze | W 1 chorobie |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Bardzo często (80–99%) | W 2 chorobach |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Bardzo często (80–99%) | W 1 chorobie |
| CCND1cyclin D1 | Bardzo często (80–99%) | W 1 chorobie |
| CDC73cell division cycle 73 | Bardzo często (80–99%) | W 1 chorobie |
| CHST3carbohydrate sulfotransferase 3 | Bardzo często (80–99%) | W 1 chorobie |
| CYP19A1cytochrome P450 family 19 subfamily A member 1 | Bardzo często (80–99%) | W 1 chorobie |
| DCAF17DDB1 and CUL4 associated factor 17 | Bardzo często (80–99%) | W 1 chorobie |
| FGFR2fibroblast growth factor receptor 2 | Bardzo często (80–99%) | W 1 chorobie |
| GBA1glucosylceramidase beta 1 | Bardzo często (80–99%) | W 2 chorobach |
| GCM2GCM transcription factor 2 | Bardzo często (80–99%) | W 2 chorobach |
| IFIH1interferon induced with helicase C domain 1 | Bardzo często (80–99%) | W 1 chorobie |
| IRX5iroquois homeobox 5 | Bardzo często (80–99%) | W 1 chorobie |
| MEN1menin 1 | Bardzo często (80–99%) | W 2 chorobach |
| 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 |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Bardzo często (80–99%) | W 2 chorobach |
| PYCR1pyrroline-5-carboxylate reductase 1 | Bardzo często (80–99%) | W 2 chorobach |
| RNU4ATACRNA, U4atac small nuclear | Bardzo często (80–99%) | W 1 chorobie |
| RSPRY1ring finger and SPRY domain containing 1 | Bardzo często (80–99%) | W 2 chorobach |
| SCARB2scavenger receptor class B member 2 | Bardzo często (80–99%) | W 1 chorobie |
| ZMPSTE24zinc metallopeptidase STE24 | Bardzo często (80–99%) | W 1 chorobie |
| ADCY10adenylate cyclase 10 | Często (30–79%) | W 1 chorobie |
| AFF3ALF transcription elongation factor 3 | Często (30–79%) | W 1 chorobie |
| AGKacylglycerol kinase | Często (30–79%) | W 1 chorobie |
| AIPAHR interacting HSP90 co-chaperone | Często (30–79%) | W 1 chorobie |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Często (30–79%) | W 2 chorobach |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Często (30–79%) | W 1 chorobie |
| ANO5anoctamin 5 | Często (30–79%) | W 2 chorobach |
| ATP7AATPase copper transporting alpha | Często (30–79%) | W 1 chorobie |
| B4GALT7beta-1,4-galactosyltransferase 7 | Często (30–79%) | W 2 chorobach |
| BMP15bone morphogenetic protein 15 | Często (30–79%) | W 1 chorobie |
| BNC1basonuclin zinc finger protein 1 | Często (30–79%) | W 1 chorobie |
| CDH23cadherin related 23 | Często (30–79%) | W 2 chorobach |
| CHD7chromodomain helicase DNA binding protein 7 | Często (30–79%) | W 1 chorobie |
| COG1component of oligomeric golgi complex 1 | Często (30–79%) | W 2 chorobach |
| COL1A1collagen type I alpha 1 chain | Często (30–79%) | W 4 chorobach |
| COL5A1collagen type V alpha 1 chain | Często (30–79%) | W 1 chorobie |
| COL5A2collagen type V alpha 2 chain | Często (30–79%) | W 1 chorobie |
| COX4I2cytochrome c oxidase subunit 4I2 | Często (30–79%) | W 1 chorobie |
| DCHS1dachsous cadherin-related 1 | Często (30–79%) | W 2 chorobach |
| DNA2DNA replication helicase/nuclease 2 | Często (30–79%) | W 1 chorobie |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Często (30–79%) | W 1 chorobie |
| DUSP6dual specificity phosphatase 6 | Często (30–79%) | W 2 chorobach |
| ELNelastin | Często (30–79%) | W 3 chorobach |
| EMILIN1elastin microfibril interfacer 1 | Często (30–79%) | W 1 chorobie |
| EMX2empty spiracles homeobox 2 | Często (30–79%) | W 1 chorobie |
| FAT4FAT atypical cadherin 4 | Często (30–79%) | W 2 chorobach |
| 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 3 chorobach |
| FIGLAfolliculogenesis specific bHLH transcription factor | Często (30–79%) | W 1 chorobie |
| FKBP14FKBP prolyl isomerase 14 | Często (30–79%) | W 2 chorobach |
| FOXA2forkhead box A2 | Często (30–79%) | W 1 chorobie |
| FSHRfollicle stimulating hormone receptor | Często (30–79%) | W 1 chorobie |
| FUT8fucosyltransferase 8 | Często (30–79%) | W 1 chorobie |
| GEMIN4gem nuclear organelle associated protein 4 | Często (30–79%) | W 1 chorobie |
| GLI2GLI family zinc finger 2 | Często (30–79%) | W 1 chorobie |
| GNRH1gonadotropin releasing hormone 1 | Często (30–79%) | W 1 chorobie |
| GNRHRgonadotropin releasing hormone receptor | Często (30–79%) | W 1 chorobie |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Często (30–79%) | W 1 chorobie |
| HESX1HESX homeobox 1 | Często (30–79%) | W 1 chorobie |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Często (30–79%) | W 2 chorobach |
| KISS1KiSS-1 metastasis suppressor | Często (30–79%) | W 1 chorobie |
| KISS1RKISS1 receptor | Często (30–79%) | W 2 chorobach |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Często (30–79%) | W 2 chorobach |
| LHX4LIM homeobox 4 | Często (30–79%) | W 1 chorobie |
| LIFRLIF receptor subunit alpha | Często (30–79%) | W 1 chorobie |
| LRP5LDL receptor related protein 5 | Często (30–79%) | W 3 chorobach |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Często (30–79%) | W 1 chorobie |
| MIA3MIA SH3 domain ER export factor 3 | Często (30–79%) | W 1 chorobie |
| MLXIPLMLX interacting protein like | Często (30–79%) | W 1 chorobie |
| MRPS22mitochondrial ribosomal protein S22 | Często (30–79%) | W 1 chorobie |
| MSH4mutS homolog 4 | Często (30–79%) | W 1 chorobie |
| MTX2metaxin 2 | Często (30–79%) | W 1 chorobie |
| NHLH2nescient helix-loop-helix 2 | Często (30–79%) | W 1 chorobie |
| NR5A1nuclear receptor subfamily 5 group A member 1 | Często (30–79%) | W 1 chorobie |
| NSMFNMDA receptor synaptonuclear signaling and neuronal migration factor | Często (30–79%) | W 1 chorobie |
| NUP107nucleoporin 107 | Często (30–79%) | W 1 chorobie |
| OTX2orthodenticle homeobox 2 | Często (30–79%) | W 1 chorobie |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Często (30–79%) | W 2 chorobach |
| PMM2phosphomannomutase 2 | Często (30–79%) | W 2 chorobach |
| POLR3ARNA polymerase III subunit A | Często (30–79%) | W 1 chorobie |
| POLR3HRNA polymerase III subunit H | Często (30–79%) | W 1 chorobie |
| POU1F1POU class 1 homeobox 1 | Często (30–79%) | W 1 chorobie |
| PPIBpeptidylprolyl isomerase B | Często (30–79%) | W 1 chorobie |
| PROK2prokineticin 2 | Często (30–79%) | W 1 chorobie |
| PROKR2prokineticin receptor 2 | Często (30–79%) | W 1 chorobie |
| PROP1PROP paired-like homeobox 1 | Często (30–79%) | W 2 chorobach |
| PSAPprosaposin | Często (30–79%) | W 2 chorobach |
| PSMC3IPPSMC3 interacting protein | Często (30–79%) | W 1 chorobie |
| PTH1Rparathyroid hormone 1 receptor | Często (30–79%) | W 2 chorobach |
| PYGLglycogen phosphorylase L | Często (30–79%) | W 1 chorobie |
| SATB2SATB homeobox 2 | Często (30–79%) | W 2 chorobach |
| SLC10A1solute carrier family 10 member 1 | Często (30–79%) | W 1 chorobie |
| SLC39A13solute carrier family 39 member 13 | Często (30–79%) | W 2 chorobach |
| SLC39A8solute carrier family 39 member 8 | Często (30–79%) | W 2 chorobach |
| SLC7A7solute carrier family 7 member 7 | Często (30–79%) | W 1 chorobie |
| SMAD3SMAD family member 3 | Często (30–79%) | W 1 chorobie |
| SMARCD2SWI/SNF related BAF chromatin remodeling complex subunit D2 | Często (30–79%) | W 1 chorobie |
| SMPD1sphingomyelin phosphodiesterase 1 | Często (30–79%) | W 2 chorobach |
| SPIDRscaffold protein involved in DNA repair | Często (30–79%) | W 1 chorobie |
| SPRY4sprouty RTK signaling antagonist 4 | Często (30–79%) | W 2 chorobach |
| STAT1signal transducer and activator of transcription 1 | Często (30–79%) | W 2 chorobach |
| STAT3signal transducer and activator of transcription 3 | Często (30–79%) | W 2 chorobach |
| TAC3tachykinin precursor 3 | Często (30–79%) | W 1 chorobie |
| TACR3tachykinin receptor 3 | Często (30–79%) | W 1 chorobie |
| TAF1TATA-box binding protein associated factor 1 | Często (30–79%) | W 1 chorobie |
| TINF2TERF1 interacting nuclear factor 2 | Często (30–79%) | W 1 chorobie |
| TNNC2troponin C2, fast skeletal type | Często (30–79%) | W 1 chorobie |
| TRPV6transient receptor potential cation channel subfamily V member 6 | Często (30–79%) | W 1 chorobie |
| WDR11WD repeat domain 11 | Często (30–79%) | W 1 chorobie |
| ZNF668zinc finger protein 668 | Często (30–79%) | W 1 chorobie |
| ZSWIM7zinc finger SWIM-type containing 7 | Często (30–79%) | W 1 chorobie |
| AARS1alanyl-tRNA synthetase 1 | Czasami (5–29%) | W 1 chorobie |
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Czasami (5–29%) | W 2 chorobach |
| ADAMTSL2ADAMTS like 2 | Czasami (5–29%) | W 2 chorobach |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Czasami (5–29%) | W 1 chorobie |
| ATP8B1ATPase phospholipid transporting 8B1 | Czasami (5–29%) | W 1 chorobie |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Czasami (5–29%) | W 1 chorobie |
| BMP2bone morphogenetic protein 2 | Czasami (5–29%) | W 1 chorobie |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Czasami (5–29%) | W 2 chorobach |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Czasami (5–29%) | W 1 chorobie |
| CARS1cysteinyl-tRNA synthetase 1 | Czasami (5–29%) | W 1 chorobie |
| CBFBcore-binding factor subunit beta | Czasami (5–29%) | W 1 chorobie |
| CBLCbl proto-oncogene | Czasami (5–29%) | W 1 chorobie |
| CEACAM3CEA cell adhesion molecule 3 | Czasami (5–29%) | W 1 chorobie |
| CEACAM6CEA cell adhesion molecule 6 | Czasami (5–29%) | W 1 chorobie |
| CFTRCF transmembrane conductance regulator | Czasami (5–29%) | W 1 chorobie |
| CLCA4chloride channel accessory 4 | Czasami (5–29%) | W 1 chorobie |
| CLIP2CAP-Gly domain containing linker protein 2 | Czasami (5–29%) | W 1 chorobie |
| CLPBClpB family mitochondrial disaggregase | Czasami (5–29%) | W 1 chorobie |
| COL1A2collagen type I alpha 2 chain | Czasami (5–29%) | W 1 chorobie |
| COL7A1collagen type VII alpha 1 chain | Czasami (5–29%) | W 1 chorobie |
| CTCFCCCTC-binding factor | Czasami (5–29%) | W 2 chorobach |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Czasami (5–29%) | W 1 chorobie |
| DBR1debranching RNA lariats 1 | Czasami (5–29%) | W 1 chorobie |
| DCTN4dynactin subunit 4 | Czasami (5–29%) | W 1 chorobie |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Czasami (5–29%) | W 1 chorobie |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Czasami (5–29%) | W 1 chorobie |
| EDNRAendothelin receptor type A | Czasami (5–29%) | W 1 chorobie |
| EFL1elongation factor like GTPase 1 | Czasami (5–29%) | W 1 chorobie |
| EIF4Heukaryotic translation initiation factor 4H | Czasami (5–29%) | W 1 chorobie |
| ELANEelastase, neutrophil expressed | Czasami (5–29%) | W 1 chorobie |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Czasami (5–29%) | W 1 chorobie |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Czasami (5–29%) | W 1 chorobie |
| FBN1fibrillin 1 | Czasami (5–29%) | W 1 chorobie |
| FBXO11F-box protein 11 | Czasami (5–29%) | W 1 chorobie |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Czasami (5–29%) | W 1 chorobie |
| GATA1GATA binding protein 1 | Czasami (5–29%) | W 1 chorobie |
| GCLCglutamate-cysteine ligase catalytic subunit | Czasami (5–29%) | W 1 chorobie |
| GFI1growth factor independent 1 transcriptional repressor | Czasami (5–29%) | W 1 chorobie |
| GLIS3GLIS family zinc finger 3 | Czasami (5–29%) | W 1 chorobie |
| GPR35G protein-coupled receptor 35 | Czasami (5–29%) | W 1 chorobie |
| GSTM3glutathione S-transferase mu 3 | Czasami (5–29%) | W 1 chorobie |
| GTF2E2general transcription factor IIE subunit 2 | Czasami (5–29%) | W 1 chorobie |
| GTF2H5general transcription factor IIH subunit 5 | 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 |
| HBBhemoglobin subunit beta | 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 1 chorobie |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Czasami (5–29%) | W 1 chorobie |
| HMOX1heme oxygenase 1 | Czasami (5–29%) | W 1 chorobie |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Czasami (5–29%) | W 2 chorobach |
| IER3IP1immediate early response 3 interacting protein 1 | Czasami (5–29%) | W 1 chorobie |
| IFT54intraflagellar transport 54 | Czasami (5–29%) | W 1 chorobie |
| IFT56intraflagellar transport 56 | Czasami (5–29%) | W 1 chorobie |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Czasami (5–29%) | W 1 chorobie |
| IL17RDinterleukin 17 receptor D | Czasami (5–29%) | W 1 chorobie |
| IL6interleukin 6 | Czasami (5–29%) | W 1 chorobie |
| KCNN4potassium calcium-activated channel subfamily N member 4 | Czasami (5–29%) | W 1 chorobie |
| KRASKRas proto-oncogene, GTPase | Czasami (5–29%) | W 3 chorobach |
| LACC1laccase domain multifunctional purine nucleosidase 1 | Czasami (5–29%) | W 1 chorobie |
| LIMK1LIM domain kinase 1 | Czasami (5–29%) | W 1 chorobie |
| LTBP4latent transforming growth factor beta binding protein 4 | Czasami (5–29%) | W 1 chorobie |
| LZTR1leucine zipper like post translational regulator 1 | Czasami (5–29%) | W 1 chorobie |
| MAGEL2MAGE family member L2 | Czasami (5–29%) | W 5 chorobach |
| MAN2B1mannosidase alpha class 2B member 1 | Czasami (5–29%) | W 2 chorobach |
| MDM4MDM4 regulator of p53 | Czasami (5–29%) | W 1 chorobie |
| METTL27methyltransferase like 27 | Czasami (5–29%) | W 1 chorobie |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Czasami (5–29%) | W 2 chorobach |
| MIFmacrophage migration inhibitory factor | Czasami (5–29%) | W 2 chorobach |
| MKRN3makorin ring finger protein 3 | Czasami (5–29%) | W 1 chorobie |
| MMP1matrix metallopeptidase 1 | Czasami (5–29%) | W 1 chorobie |
| MPLKIPM-phase specific PLK1 interacting protein | Czasami (5–29%) | W 1 chorobie |
| MRASmuscle RAS oncogene homolog | Czasami (5–29%) | W 1 chorobie |
| MST1macrophage stimulating 1 | Czasami (5–29%) | W 1 chorobie |
| MTTPmicrosomal triglyceride transfer protein | Czasami (5–29%) | W 1 chorobie |
| NAA20N-alpha-acetyltransferase 20, NatB catalytic subunit | Czasami (5–29%) | W 1 chorobie |
| NAF1nuclear assembly factor 1 ribonucleoprotein | 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 |
| NF1neurofibromin 1 | Czasami (5–29%) | W 1 chorobie |
| NFKBIANFKB inhibitor alpha | Czasami (5–29%) | W 1 chorobie |
| NPAP1nuclear pore associated protein 1 | Czasami (5–29%) | W 1 chorobie |
| NRASNRAS proto-oncogene, GTPase | Czasami (5–29%) | W 2 chorobach |
| OCA2OCA2 melanosomal transmembrane protein | Czasami (5–29%) | W 3 chorobach |
| POC1APOC1 centriolar protein A | Czasami (5–29%) | W 1 chorobie |
| POLEDNA polymerase epsilon, catalytic subunit | Czasami (5–29%) | W 1 chorobie |
| PRLRprolactin receptor | Czasami (5–29%) | W 1 chorobie |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | 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 |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Czasami (5–29%) | W 1 chorobie |
| RASA2RAS p21 protein activator 2 | Czasami (5–29%) | W 1 chorobie |
| RECQL4RecQ like helicase 4 | Czasami (5–29%) | W 1 chorobie |
| RFC2replication factor C subunit 2 | Czasami (5–29%) | W 1 chorobie |
| RIGIRNA sensor RIG-I | Czasami (5–29%) | W 1 chorobie |
| RIT1Ras like without CAAX 1 | Czasami (5–29%) | W 1 chorobie |
| RNF113Aring finger protein 113A | Czasami (5–29%) | W 1 chorobie |
| RNF125ring finger protein 125 | Czasami (5–29%) | W 1 chorobie |
| RNU5B-1RNA, U5B small nuclear 1 | Czasami (5–29%) | W 1 chorobie |
| RRASRAS related | Czasami (5–29%) | W 1 chorobie |
| RRAS2RAS related 2 | Czasami (5–29%) | W 1 chorobie |
| SBDSSBDS ribosome maturation factor | Czasami (5–29%) | W 1 chorobie |
| SEC23ASEC23 homolog A, COPII component | Czasami (5–29%) | W 1 chorobie |
| SEMA4Dsemaphorin 4D | Czasami (5–29%) | W 1 chorobie |
| SERPINA1serpin family A member 1 | Czasami (5–29%) | W 1 chorobie |
| SIM1SIM bHLH transcription factor 1 | Czasami (5–29%) | W 1 chorobie |
| SKISKI proto-oncogene | Czasami (5–29%) | W 2 chorobach |
| SLC11A1solute carrier family 11 member 1 | Czasami (5–29%) | W 1 chorobie |
| SLC26A9solute carrier family 26 member 9 | Czasami (5–29%) | W 1 chorobie |
| SLC2A2solute carrier family 2 member 2 | Czasami (5–29%) | W 1 chorobie |
| SLC37A4solute carrier family 37 member 4 | Czasami (5–29%) | W 1 chorobie |
| SLC6A14solute carrier family 6 member 14 | Czasami (5–29%) | W 1 chorobie |
| SLC9A3solute carrier family 9 member A3 | 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 |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Czasami (5–29%) | W 1 chorobie |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Czasami (5–29%) | W 1 chorobie |
| SOX3SRY-box transcription factor 3 | Czasami (5–29%) | W 1 chorobie |
| SPRED2sprouty related EVH1 domain containing 2 | Czasami (5–29%) | W 1 chorobie |
| SRP19signal recognition particle 19 | Czasami (5–29%) | W 1 chorobie |
| STX1Asyntaxin 1A | Czasami (5–29%) | W 2 chorobach |
| TARS1threonyl-tRNA synthetase 1 | Czasami (5–29%) | W 1 chorobie |
| 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 |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Czasami (5–29%) | W 1 chorobie |
| TERTtelomerase reverse transcriptase | Czasami (5–29%) | W 1 chorobie |
| TGFB1transforming growth factor beta 1 | Czasami (5–29%) | W 1 chorobie |
| TMEM270transmembrane protein 270 | Czasami (5–29%) | W 1 chorobie |
| URODuroporphyrinogen decarboxylase | Czasami (5–29%) | W 1 chorobie |
| UROSuroporphyrinogen III synthase | Czasami (5–29%) | W 2 chorobach |
| USP9Xubiquitin specific peptidase 9 X-linked | Czasami (5–29%) | W 1 chorobie |
| VIPAS39VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog | Czasami (5–29%) | W 1 chorobie |
| VPS33BVPS33B late endosome and lysosome associated | Czasami (5–29%) | W 1 chorobie |
| VPS37DVPS37D subunit of ESCRT-I | Czasami (5–29%) | W 1 chorobie |
| ZFXzinc finger protein X-linked | Czasami (5–29%) | W 1 chorobie |
| ZNF699zinc finger protein 699 | Czasami (5–29%) | W 1 chorobie |
| ANAPC1anaphase promoting complex subunit 1 | Rzadko (1–4%) | W 1 chorobie |
| FBLN5fibulin 5 | Rzadko (1–4%) | W 1 chorobie |
| SLC35A2solute carrier family 35 member A2 | Rzadko (1–4%) | W 1 chorobie |
| AVParginine vasopressin | Nie odnotowano | W 1 chorobie |
| CAVIN1caveolae associated protein 1 | Nie odnotowano | W 1 chorobie |
| CREB3L1cAMP responsive element binding protein 3 like 1 | Nie odnotowano | W 1 chorobie |
| CRTAPcartilage associated protein | Nie odnotowano | W 1 chorobie |
| CTC1CST telomere replication complex component 1 | Nie odnotowano | W 1 chorobie |
| CYP3A4cytochrome P450 family 3 subfamily A member 4 | Nie odnotowano | W 1 chorobie |
| EEDembryonic ectoderm development | Nie odnotowano | W 1 chorobie |
| FBN2fibrillin 2 | Nie odnotowano | W 1 chorobie |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Nie odnotowano | W 1 chorobie |
| GNASGNAS complex locus | Nie odnotowano | W 1 chorobie |
| GNPATglyceronephosphate O-acyltransferase | Nie odnotowano | W 1 chorobie |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Nie odnotowano | W 1 chorobie |
| HPGD15-hydroxyprostaglandin dehydrogenase | Nie odnotowano | W 1 chorobie |
| HRASHRas proto-oncogene, GTPase | Nie odnotowano | W 1 chorobie |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Nie odnotowano | W 1 chorobie |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Nie odnotowano | W 1 chorobie |
| KCNJ1potassium inwardly rectifying channel subfamily J member 1 | Nie odnotowano | W 1 chorobie |
| MAFBMAF bZIP transcription factor B | Nie odnotowano | W 1 chorobie |
| MAP2K1mitogen-activated protein kinase kinase 1 | Nie odnotowano | W 1 chorobie |
| MAP2K2mitogen-activated protein kinase kinase 2 | Nie odnotowano | W 1 chorobie |
| MTAPmethylthioadenosine phosphorylase | Nie odnotowano | W 1 chorobie |
| NAGAalpha-N-acetylgalactosaminidase | Nie odnotowano | W 1 chorobie |
| NHERF1NHERF family PDZ scaffold protein 1 | Nie odnotowano | W 1 chorobie |
| PDE11Aphosphodiesterase 11A | Nie odnotowano | W 1 chorobie |
| PLOD2procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 | 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 |
| 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 |
| SLC12A1solute carrier family 12 member 1 | Nie odnotowano | W 1 chorobie |
| SLC17A5solute carrier family 17 member 5 | Nie odnotowano | W 1 chorobie |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Nie odnotowano | W 1 chorobie |
| TAPT1transmembrane anterior posterior transformation 1 | Nie odnotowano | W 1 chorobie |
| TGFB2transforming growth factor beta 2 | Nie odnotowano | W 1 chorobie |
| TONSLtonsoku like, DNA repair protein | Nie odnotowano | W 1 chorobie |
| TREM2triggering receptor expressed on myeloid cells 2 | Nie odnotowano | W 1 chorobie |
| TRPS1transcriptional repressor GATA binding 1 | Nie odnotowano | W 2 chorobach |
| UNC80unc-80 subunit of NALCN channel complex | Nie odnotowano | W 1 chorobie |
| XYLT2xylosyltransferase 2 | 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 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.
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