Požymis
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.
Santrauka
- Taip pat vadinama
- Generalised osteopenia, Generalized osteopenia, Osteopaenia
- Kūno sistema
- Abnormality of the musculoskeletal system
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
Read the genes linked to Osteopenia, and the rest of your genome, with one test.
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Įsigyti savo Genome Test341 genas susijęs su Osteopenia
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Osteopenia. 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 |
|---|---|---|
| AEBP1AE binding protein 1 | Visada | 2 ligose |
| ANTXR2ANTXR cell adhesion molecule 2 | Visada | 2 ligose |
| B3GALT6beta-1,3-galactosyltransferase 6 | Visada | 3 ligose |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Visada | 1 ligoje |
| COPB2coat protein complex I subunit beta 2 | Visada | 1 ligoje |
| CRIPTCXXC repeat containing interactor of PDZ3 domain | Visada | 1 ligoje |
| DDOSTdolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit | Visada | 2 ligose |
| ERI1exoribonuclease 1 | Visada | 1 ligoje |
| ESR1estrogen receptor 1 | Visada | 2 ligose |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Visada | 1 ligoje |
| FKBP10FKBP prolyl isomerase 10 | Visada | 1 ligoje |
| GORABgolgin, RAB6 interacting | Visada | 1 ligoje |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Visada | 2 ligose |
| HNRNPH1heterogeneous nuclear ribonucleoprotein H1 | Visada | 1 ligoje |
| IFITM5interferon induced transmembrane protein 5 | Visada | 1 ligoje |
| IFT140intraflagellar transport 140 | Visada | 1 ligoje |
| IGF1insulin like growth factor 1 | Visada | 1 ligoje |
| IKZF2IKAROS family zinc finger 2 | Visada | 1 ligoje |
| IL1RNinterleukin 1 receptor antagonist | Visada | 1 ligoje |
| JPH1junctophilin 1 | Visada | 1 ligoje |
| KLklotho | Visada | 1 ligoje |
| LAMA5laminin subunit alpha 5 | Visada | 1 ligoje |
| LMNAlamin A/C | Visada | 3 ligose |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Visada | 1 ligoje |
| NPR2natriuretic peptide receptor 2 | Visada | 1 ligoje |
| P3H1prolyl 3-hydroxylase 1 | Visada | 1 ligoje |
| P4HBprolyl 4-hydroxylase subunit beta | Visada | 1 ligoje |
| PAPPA2pappalysin 2 | Visada | 1 ligoje |
| PHLDB1pleckstrin homology like domain family B member 1 | Visada | 1 ligoje |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Visada | 1 ligoje |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Visada | 1 ligoje |
| PLEKHM1pleckstrin homology and RUN domain containing M1 | Visada | 1 ligoje |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Visada | 2 ligose |
| PLOD3procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | Visada | 1 ligoje |
| RBSNrabenosyn, RAB effector | Visada | 2 ligose |
| RFC4replication factor C subunit 4 | Visada | 1 ligoje |
| SEC24DSEC24 homolog D, COPII component | Visada | 1 ligoje |
| SERPINH1serpin family H member 1 | Visada | 1 ligoje |
| SLC34A1solute carrier family 34 member 1 | Visada | 2 ligose |
| STN1STN1 subunit of CST complex | Visada | 1 ligoje |
Rodyti dar 301 geną
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| STX3syntaxin 3 | Visada | 2 ligose |
| TMEM38Btransmembrane protein 38B | Visada | 1 ligoje |
| TMEM67transmembrane protein 67 | Visada | 2 ligose |
| TNFRSF11BTNF receptor superfamily member 11b | Visada | 1 ligoje |
| UNC13Aunc-13 homolog A | Visada | 1 ligoje |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Labai dažnai (80–99%) | 2 ligose |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Labai dažnai (80–99%) | 1 ligoje |
| CCND1cyclin D1 | Labai dažnai (80–99%) | 1 ligoje |
| CDC73cell division cycle 73 | Labai dažnai (80–99%) | 1 ligoje |
| CHST3carbohydrate sulfotransferase 3 | Labai dažnai (80–99%) | 1 ligoje |
| CYP19A1cytochrome P450 family 19 subfamily A member 1 | Labai dažnai (80–99%) | 1 ligoje |
| DCAF17DDB1 and CUL4 associated factor 17 | Labai dažnai (80–99%) | 1 ligoje |
| FGFR2fibroblast growth factor receptor 2 | Labai dažnai (80–99%) | 1 ligoje |
| GBA1glucosylceramidase beta 1 | Labai dažnai (80–99%) | 2 ligose |
| GCM2GCM transcription factor 2 | Labai dažnai (80–99%) | 2 ligose |
| IFIH1interferon induced with helicase C domain 1 | Labai dažnai (80–99%) | 1 ligoje |
| IRX5iroquois homeobox 5 | Labai dažnai (80–99%) | 1 ligoje |
| MEN1menin 1 | Labai dažnai (80–99%) | 2 ligose |
| 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 |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Labai dažnai (80–99%) | 2 ligose |
| PYCR1pyrroline-5-carboxylate reductase 1 | Labai dažnai (80–99%) | 2 ligose |
| RNU4ATACRNA, U4atac small nuclear | Labai dažnai (80–99%) | 1 ligoje |
| RSPRY1ring finger and SPRY domain containing 1 | Labai dažnai (80–99%) | 2 ligose |
| SCARB2scavenger receptor class B member 2 | Labai dažnai (80–99%) | 1 ligoje |
| ZMPSTE24zinc metallopeptidase STE24 | Labai dažnai (80–99%) | 1 ligoje |
| ADCY10adenylate cyclase 10 | Dažnai (30–79%) | 1 ligoje |
| AFF3ALF transcription elongation factor 3 | Dažnai (30–79%) | 1 ligoje |
| AGKacylglycerol kinase | Dažnai (30–79%) | 1 ligoje |
| AIPAHR interacting HSP90 co-chaperone | Dažnai (30–79%) | 1 ligoje |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Dažnai (30–79%) | 2 ligose |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Dažnai (30–79%) | 1 ligoje |
| ANO5anoctamin 5 | Dažnai (30–79%) | 2 ligose |
| ATP7AATPase copper transporting alpha | Dažnai (30–79%) | 1 ligoje |
| B4GALT7beta-1,4-galactosyltransferase 7 | Dažnai (30–79%) | 2 ligose |
| BMP15bone morphogenetic protein 15 | Dažnai (30–79%) | 1 ligoje |
| BNC1basonuclin zinc finger protein 1 | Dažnai (30–79%) | 1 ligoje |
| CDH23cadherin related 23 | Dažnai (30–79%) | 2 ligose |
| CHD7chromodomain helicase DNA binding protein 7 | Dažnai (30–79%) | 1 ligoje |
| COG1component of oligomeric golgi complex 1 | Dažnai (30–79%) | 2 ligose |
| COL1A1collagen type I alpha 1 chain | Dažnai (30–79%) | 4 ligose |
| COL5A1collagen type V alpha 1 chain | Dažnai (30–79%) | 1 ligoje |
| COL5A2collagen type V alpha 2 chain | Dažnai (30–79%) | 1 ligoje |
| COX4I2cytochrome c oxidase subunit 4I2 | Dažnai (30–79%) | 1 ligoje |
| DCHS1dachsous cadherin-related 1 | Dažnai (30–79%) | 2 ligose |
| DNA2DNA replication helicase/nuclease 2 | Dažnai (30–79%) | 1 ligoje |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Dažnai (30–79%) | 1 ligoje |
| DUSP6dual specificity phosphatase 6 | Dažnai (30–79%) | 2 ligose |
| ELNelastin | Dažnai (30–79%) | 3 ligose |
| EMILIN1elastin microfibril interfacer 1 | Dažnai (30–79%) | 1 ligoje |
| EMX2empty spiracles homeobox 2 | Dažnai (30–79%) | 1 ligoje |
| FAT4FAT atypical cadherin 4 | Dažnai (30–79%) | 2 ligose |
| 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%) | 3 ligose |
| FIGLAfolliculogenesis specific bHLH transcription factor | Dažnai (30–79%) | 1 ligoje |
| FKBP14FKBP prolyl isomerase 14 | Dažnai (30–79%) | 2 ligose |
| FOXA2forkhead box A2 | Dažnai (30–79%) | 1 ligoje |
| FSHRfollicle stimulating hormone receptor | Dažnai (30–79%) | 1 ligoje |
| FUT8fucosyltransferase 8 | Dažnai (30–79%) | 1 ligoje |
| GEMIN4gem nuclear organelle associated protein 4 | Dažnai (30–79%) | 1 ligoje |
| GLI2GLI family zinc finger 2 | Dažnai (30–79%) | 1 ligoje |
| GNRH1gonadotropin releasing hormone 1 | Dažnai (30–79%) | 1 ligoje |
| GNRHRgonadotropin releasing hormone receptor | Dažnai (30–79%) | 1 ligoje |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Dažnai (30–79%) | 1 ligoje |
| HESX1HESX homeobox 1 | Dažnai (30–79%) | 1 ligoje |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Dažnai (30–79%) | 2 ligose |
| KISS1KiSS-1 metastasis suppressor | Dažnai (30–79%) | 1 ligoje |
| KISS1RKISS1 receptor | Dažnai (30–79%) | 2 ligose |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Dažnai (30–79%) | 2 ligose |
| LHX4LIM homeobox 4 | Dažnai (30–79%) | 1 ligoje |
| LIFRLIF receptor subunit alpha | Dažnai (30–79%) | 1 ligoje |
| LRP5LDL receptor related protein 5 | Dažnai (30–79%) | 3 ligose |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Dažnai (30–79%) | 1 ligoje |
| MIA3MIA SH3 domain ER export factor 3 | Dažnai (30–79%) | 1 ligoje |
| MLXIPLMLX interacting protein like | Dažnai (30–79%) | 1 ligoje |
| MRPS22mitochondrial ribosomal protein S22 | Dažnai (30–79%) | 1 ligoje |
| MSH4mutS homolog 4 | Dažnai (30–79%) | 1 ligoje |
| MTX2metaxin 2 | Dažnai (30–79%) | 1 ligoje |
| NHLH2nescient helix-loop-helix 2 | Dažnai (30–79%) | 1 ligoje |
| NR5A1nuclear receptor subfamily 5 group A member 1 | Dažnai (30–79%) | 1 ligoje |
| NSMFNMDA receptor synaptonuclear signaling and neuronal migration factor | Dažnai (30–79%) | 1 ligoje |
| NUP107nucleoporin 107 | Dažnai (30–79%) | 1 ligoje |
| OTX2orthodenticle homeobox 2 | Dažnai (30–79%) | 1 ligoje |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Dažnai (30–79%) | 2 ligose |
| PMM2phosphomannomutase 2 | Dažnai (30–79%) | 2 ligose |
| POLR3ARNA polymerase III subunit A | Dažnai (30–79%) | 1 ligoje |
| POLR3HRNA polymerase III subunit H | Dažnai (30–79%) | 1 ligoje |
| POU1F1POU class 1 homeobox 1 | Dažnai (30–79%) | 1 ligoje |
| PPIBpeptidylprolyl isomerase B | Dažnai (30–79%) | 1 ligoje |
| PROK2prokineticin 2 | Dažnai (30–79%) | 1 ligoje |
| PROKR2prokineticin receptor 2 | Dažnai (30–79%) | 1 ligoje |
| PROP1PROP paired-like homeobox 1 | Dažnai (30–79%) | 2 ligose |
| PSAPprosaposin | Dažnai (30–79%) | 2 ligose |
| PSMC3IPPSMC3 interacting protein | Dažnai (30–79%) | 1 ligoje |
| PTH1Rparathyroid hormone 1 receptor | Dažnai (30–79%) | 2 ligose |
| PYGLglycogen phosphorylase L | Dažnai (30–79%) | 1 ligoje |
| SATB2SATB homeobox 2 | Dažnai (30–79%) | 2 ligose |
| SLC10A1solute carrier family 10 member 1 | Dažnai (30–79%) | 1 ligoje |
| SLC39A13solute carrier family 39 member 13 | Dažnai (30–79%) | 2 ligose |
| SLC39A8solute carrier family 39 member 8 | Dažnai (30–79%) | 2 ligose |
| SLC7A7solute carrier family 7 member 7 | Dažnai (30–79%) | 1 ligoje |
| SMAD3SMAD family member 3 | Dažnai (30–79%) | 1 ligoje |
| SMARCD2SWI/SNF related BAF chromatin remodeling complex subunit D2 | Dažnai (30–79%) | 1 ligoje |
| SMPD1sphingomyelin phosphodiesterase 1 | Dažnai (30–79%) | 2 ligose |
| SPIDRscaffold protein involved in DNA repair | Dažnai (30–79%) | 1 ligoje |
| SPRY4sprouty RTK signaling antagonist 4 | Dažnai (30–79%) | 2 ligose |
| STAT1signal transducer and activator of transcription 1 | Dažnai (30–79%) | 2 ligose |
| STAT3signal transducer and activator of transcription 3 | Dažnai (30–79%) | 2 ligose |
| TAC3tachykinin precursor 3 | Dažnai (30–79%) | 1 ligoje |
| TACR3tachykinin receptor 3 | Dažnai (30–79%) | 1 ligoje |
| TAF1TATA-box binding protein associated factor 1 | Dažnai (30–79%) | 1 ligoje |
| TINF2TERF1 interacting nuclear factor 2 | Dažnai (30–79%) | 1 ligoje |
| TNNC2troponin C2, fast skeletal type | Dažnai (30–79%) | 1 ligoje |
| TRPV6transient receptor potential cation channel subfamily V member 6 | Dažnai (30–79%) | 1 ligoje |
| WDR11WD repeat domain 11 | Dažnai (30–79%) | 1 ligoje |
| ZNF668zinc finger protein 668 | Dažnai (30–79%) | 1 ligoje |
| ZSWIM7zinc finger SWIM-type containing 7 | Dažnai (30–79%) | 1 ligoje |
| AARS1alanyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Kartais (5–29%) | 2 ligose |
| ADAMTSL2ADAMTS like 2 | Kartais (5–29%) | 2 ligose |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Kartais (5–29%) | 1 ligoje |
| ATP8B1ATPase phospholipid transporting 8B1 | Kartais (5–29%) | 1 ligoje |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Kartais (5–29%) | 1 ligoje |
| BMP2bone morphogenetic protein 2 | Kartais (5–29%) | 1 ligoje |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Kartais (5–29%) | 2 ligose |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Kartais (5–29%) | 1 ligoje |
| CARS1cysteinyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| CBFBcore-binding factor subunit beta | Kartais (5–29%) | 1 ligoje |
| CBLCbl proto-oncogene | Kartais (5–29%) | 1 ligoje |
| CEACAM3CEA cell adhesion molecule 3 | Kartais (5–29%) | 1 ligoje |
| CEACAM6CEA cell adhesion molecule 6 | Kartais (5–29%) | 1 ligoje |
| CFTRCF transmembrane conductance regulator | Kartais (5–29%) | 1 ligoje |
| CLCA4chloride channel accessory 4 | Kartais (5–29%) | 1 ligoje |
| CLIP2CAP-Gly domain containing linker protein 2 | Kartais (5–29%) | 1 ligoje |
| CLPBClpB family mitochondrial disaggregase | Kartais (5–29%) | 1 ligoje |
| COL1A2collagen type I alpha 2 chain | Kartais (5–29%) | 1 ligoje |
| COL7A1collagen type VII alpha 1 chain | Kartais (5–29%) | 1 ligoje |
| CTCFCCCTC-binding factor | Kartais (5–29%) | 2 ligose |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Kartais (5–29%) | 1 ligoje |
| DBR1debranching RNA lariats 1 | Kartais (5–29%) | 1 ligoje |
| DCTN4dynactin subunit 4 | Kartais (5–29%) | 1 ligoje |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Kartais (5–29%) | 1 ligoje |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Kartais (5–29%) | 1 ligoje |
| EDNRAendothelin receptor type A | Kartais (5–29%) | 1 ligoje |
| EFL1elongation factor like GTPase 1 | Kartais (5–29%) | 1 ligoje |
| EIF4Heukaryotic translation initiation factor 4H | Kartais (5–29%) | 1 ligoje |
| ELANEelastase, neutrophil expressed | Kartais (5–29%) | 1 ligoje |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Kartais (5–29%) | 1 ligoje |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Kartais (5–29%) | 1 ligoje |
| FBN1fibrillin 1 | Kartais (5–29%) | 1 ligoje |
| FBXO11F-box protein 11 | Kartais (5–29%) | 1 ligoje |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Kartais (5–29%) | 1 ligoje |
| GATA1GATA binding protein 1 | Kartais (5–29%) | 1 ligoje |
| GCLCglutamate-cysteine ligase catalytic subunit | Kartais (5–29%) | 1 ligoje |
| GFI1growth factor independent 1 transcriptional repressor | Kartais (5–29%) | 1 ligoje |
| GLIS3GLIS family zinc finger 3 | Kartais (5–29%) | 1 ligoje |
| GPR35G protein-coupled receptor 35 | Kartais (5–29%) | 1 ligoje |
| GSTM3glutathione S-transferase mu 3 | Kartais (5–29%) | 1 ligoje |
| GTF2E2general transcription factor IIE subunit 2 | Kartais (5–29%) | 1 ligoje |
| GTF2H5general transcription factor IIH subunit 5 | 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 |
| HBBhemoglobin subunit beta | 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%) | 1 ligoje |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Kartais (5–29%) | 1 ligoje |
| HMOX1heme oxygenase 1 | Kartais (5–29%) | 1 ligoje |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Kartais (5–29%) | 2 ligose |
| IER3IP1immediate early response 3 interacting protein 1 | Kartais (5–29%) | 1 ligoje |
| IFT54intraflagellar transport 54 | Kartais (5–29%) | 1 ligoje |
| IFT56intraflagellar transport 56 | Kartais (5–29%) | 1 ligoje |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Kartais (5–29%) | 1 ligoje |
| IL17RDinterleukin 17 receptor D | Kartais (5–29%) | 1 ligoje |
| IL6interleukin 6 | Kartais (5–29%) | 1 ligoje |
| KCNN4potassium calcium-activated channel subfamily N member 4 | Kartais (5–29%) | 1 ligoje |
| KRASKRas proto-oncogene, GTPase | Kartais (5–29%) | 3 ligose |
| LACC1laccase domain multifunctional purine nucleosidase 1 | Kartais (5–29%) | 1 ligoje |
| LIMK1LIM domain kinase 1 | Kartais (5–29%) | 1 ligoje |
| LTBP4latent transforming growth factor beta binding protein 4 | Kartais (5–29%) | 1 ligoje |
| LZTR1leucine zipper like post translational regulator 1 | Kartais (5–29%) | 1 ligoje |
| MAGEL2MAGE family member L2 | Kartais (5–29%) | 5 ligose |
| MAN2B1mannosidase alpha class 2B member 1 | Kartais (5–29%) | 2 ligose |
| MDM4MDM4 regulator of p53 | Kartais (5–29%) | 1 ligoje |
| METTL27methyltransferase like 27 | Kartais (5–29%) | 1 ligoje |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Kartais (5–29%) | 2 ligose |
| MIFmacrophage migration inhibitory factor | Kartais (5–29%) | 2 ligose |
| MKRN3makorin ring finger protein 3 | Kartais (5–29%) | 1 ligoje |
| MMP1matrix metallopeptidase 1 | Kartais (5–29%) | 1 ligoje |
| MPLKIPM-phase specific PLK1 interacting protein | Kartais (5–29%) | 1 ligoje |
| MRASmuscle RAS oncogene homolog | Kartais (5–29%) | 1 ligoje |
| MST1macrophage stimulating 1 | Kartais (5–29%) | 1 ligoje |
| MTTPmicrosomal triglyceride transfer protein | Kartais (5–29%) | 1 ligoje |
| NAA20N-alpha-acetyltransferase 20, NatB catalytic subunit | Kartais (5–29%) | 1 ligoje |
| NAF1nuclear assembly factor 1 ribonucleoprotein | Kartais (5–29%) | 1 ligoje |
| NCF1neutrophil cytosolic factor 1 | Kartais (5–29%) | 1 ligoje |
| NDNnecdin, MAGE family member | Kartais (5–29%) | 3 ligose |
| NF1neurofibromin 1 | Kartais (5–29%) | 1 ligoje |
| NFKBIANFKB inhibitor alpha | Kartais (5–29%) | 1 ligoje |
| NPAP1nuclear pore associated protein 1 | Kartais (5–29%) | 1 ligoje |
| NRASNRAS proto-oncogene, GTPase | Kartais (5–29%) | 2 ligose |
| OCA2OCA2 melanosomal transmembrane protein | Kartais (5–29%) | 3 ligose |
| POC1APOC1 centriolar protein A | Kartais (5–29%) | 1 ligoje |
| POLEDNA polymerase epsilon, catalytic subunit | Kartais (5–29%) | 1 ligoje |
| PRLRprolactin receptor | Kartais (5–29%) | 1 ligoje |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | 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 |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Kartais (5–29%) | 1 ligoje |
| RASA2RAS p21 protein activator 2 | Kartais (5–29%) | 1 ligoje |
| RECQL4RecQ like helicase 4 | Kartais (5–29%) | 1 ligoje |
| RFC2replication factor C subunit 2 | Kartais (5–29%) | 1 ligoje |
| RIGIRNA sensor RIG-I | Kartais (5–29%) | 1 ligoje |
| RIT1Ras like without CAAX 1 | Kartais (5–29%) | 1 ligoje |
| RNF113Aring finger protein 113A | Kartais (5–29%) | 1 ligoje |
| RNF125ring finger protein 125 | Kartais (5–29%) | 1 ligoje |
| RNU5B-1RNA, U5B small nuclear 1 | Kartais (5–29%) | 1 ligoje |
| RRASRAS related | Kartais (5–29%) | 1 ligoje |
| RRAS2RAS related 2 | Kartais (5–29%) | 1 ligoje |
| SBDSSBDS ribosome maturation factor | Kartais (5–29%) | 1 ligoje |
| SEC23ASEC23 homolog A, COPII component | Kartais (5–29%) | 1 ligoje |
| SEMA4Dsemaphorin 4D | Kartais (5–29%) | 1 ligoje |
| SERPINA1serpin family A member 1 | Kartais (5–29%) | 1 ligoje |
| SIM1SIM bHLH transcription factor 1 | Kartais (5–29%) | 1 ligoje |
| SKISKI proto-oncogene | Kartais (5–29%) | 2 ligose |
| SLC11A1solute carrier family 11 member 1 | Kartais (5–29%) | 1 ligoje |
| SLC26A9solute carrier family 26 member 9 | Kartais (5–29%) | 1 ligoje |
| SLC2A2solute carrier family 2 member 2 | Kartais (5–29%) | 1 ligoje |
| SLC37A4solute carrier family 37 member 4 | Kartais (5–29%) | 1 ligoje |
| SLC6A14solute carrier family 6 member 14 | Kartais (5–29%) | 1 ligoje |
| SLC9A3solute carrier family 9 member A3 | 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 |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Kartais (5–29%) | 1 ligoje |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Kartais (5–29%) | 1 ligoje |
| SOX3SRY-box transcription factor 3 | Kartais (5–29%) | 1 ligoje |
| SPRED2sprouty related EVH1 domain containing 2 | Kartais (5–29%) | 1 ligoje |
| SRP19signal recognition particle 19 | Kartais (5–29%) | 1 ligoje |
| STX1Asyntaxin 1A | Kartais (5–29%) | 2 ligose |
| TARS1threonyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| 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 |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Kartais (5–29%) | 1 ligoje |
| TERTtelomerase reverse transcriptase | Kartais (5–29%) | 1 ligoje |
| TGFB1transforming growth factor beta 1 | Kartais (5–29%) | 1 ligoje |
| TMEM270transmembrane protein 270 | Kartais (5–29%) | 1 ligoje |
| URODuroporphyrinogen decarboxylase | Kartais (5–29%) | 1 ligoje |
| UROSuroporphyrinogen III synthase | Kartais (5–29%) | 2 ligose |
| USP9Xubiquitin specific peptidase 9 X-linked | Kartais (5–29%) | 1 ligoje |
| VIPAS39VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog | Kartais (5–29%) | 1 ligoje |
| VPS33BVPS33B late endosome and lysosome associated | Kartais (5–29%) | 1 ligoje |
| VPS37DVPS37D subunit of ESCRT-I | Kartais (5–29%) | 1 ligoje |
| ZFXzinc finger protein X-linked | Kartais (5–29%) | 1 ligoje |
| ZNF699zinc finger protein 699 | Kartais (5–29%) | 1 ligoje |
| ANAPC1anaphase promoting complex subunit 1 | Retai (1–4 %) | 1 ligoje |
| FBLN5fibulin 5 | Retai (1–4 %) | 1 ligoje |
| SLC35A2solute carrier family 35 member A2 | Retai (1–4 %) | 1 ligoje |
| AVParginine vasopressin | Neužfiksuota | 1 ligoje |
| CAVIN1caveolae associated protein 1 | Neužfiksuota | 1 ligoje |
| CREB3L1cAMP responsive element binding protein 3 like 1 | Neužfiksuota | 1 ligoje |
| CRTAPcartilage associated protein | Neužfiksuota | 1 ligoje |
| CTC1CST telomere replication complex component 1 | Neužfiksuota | 1 ligoje |
| CYP3A4cytochrome P450 family 3 subfamily A member 4 | Neužfiksuota | 1 ligoje |
| EEDembryonic ectoderm development | Neužfiksuota | 1 ligoje |
| FBN2fibrillin 2 | Neužfiksuota | 1 ligoje |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Neužfiksuota | 1 ligoje |
| GNASGNAS complex locus | Neužfiksuota | 1 ligoje |
| GNPATglyceronephosphate O-acyltransferase | Neužfiksuota | 1 ligoje |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Neužfiksuota | 1 ligoje |
| HPGD15-hydroxyprostaglandin dehydrogenase | Neužfiksuota | 1 ligoje |
| HRASHRas proto-oncogene, GTPase | Neužfiksuota | 1 ligoje |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Neužfiksuota | 1 ligoje |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Neužfiksuota | 1 ligoje |
| KCNJ1potassium inwardly rectifying channel subfamily J member 1 | Neužfiksuota | 1 ligoje |
| MAFBMAF bZIP transcription factor B | Neužfiksuota | 1 ligoje |
| MAP2K1mitogen-activated protein kinase kinase 1 | Neužfiksuota | 1 ligoje |
| MAP2K2mitogen-activated protein kinase kinase 2 | Neužfiksuota | 1 ligoje |
| MTAPmethylthioadenosine phosphorylase | Neužfiksuota | 1 ligoje |
| NAGAalpha-N-acetylgalactosaminidase | Neužfiksuota | 1 ligoje |
| NHERF1NHERF family PDZ scaffold protein 1 | Neužfiksuota | 1 ligoje |
| PDE11Aphosphodiesterase 11A | Neužfiksuota | 1 ligoje |
| PLOD2procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 | 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 |
| RPL11ribosomal protein L11 | Neužfiksuota | 1 ligoje |
| SGMS2sphingomyelin synthase 2 | Neužfiksuota | 1 ligoje |
| SH3PXD2BSH3 and PX domains 2B | Neužfiksuota | 1 ligoje |
| SLC12A1solute carrier family 12 member 1 | Neužfiksuota | 1 ligoje |
| SLC17A5solute carrier family 17 member 5 | Neužfiksuota | 1 ligoje |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Neužfiksuota | 1 ligoje |
| TAPT1transmembrane anterior posterior transformation 1 | Neužfiksuota | 1 ligoje |
| TGFB2transforming growth factor beta 2 | Neužfiksuota | 1 ligoje |
| TONSLtonsoku like, DNA repair protein | Neužfiksuota | 1 ligoje |
| TREM2triggering receptor expressed on myeloid cells 2 | Neužfiksuota | 1 ligoje |
| TRPS1transcriptional repressor GATA binding 1 | Neužfiksuota | 2 ligose |
| UNC80unc-80 subunit of NALCN channel complex | Neužfiksuota | 1 ligoje |
| XYLT2xylosyltransferase 2 | 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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