Træk
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.
Resumé
- Også kaldet
- Generalised osteopenia, Generalized osteopenia, Osteopaenia
- Kropssystem
- Abnormality of the musculoskeletal system
ReferencegenomGRCh38hg38
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Ændringer i disse gener forårsager sjældne tilstande, hvor Osteopenia ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| AEBP1AE binding protein 1 | Altid | I 2 tilstande |
| ANTXR2ANTXR cell adhesion molecule 2 | Altid | I 2 tilstande |
| B3GALT6beta-1,3-galactosyltransferase 6 | Altid | I 3 tilstande |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Altid | I 1 tilstand |
| COPB2coat protein complex I subunit beta 2 | Altid | I 1 tilstand |
| CRIPTCXXC repeat containing interactor of PDZ3 domain | Altid | I 1 tilstand |
| DDOSTdolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit | Altid | I 2 tilstande |
| ERI1exoribonuclease 1 | Altid | I 1 tilstand |
| ESR1estrogen receptor 1 | Altid | I 2 tilstande |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Altid | I 1 tilstand |
| FKBP10FKBP prolyl isomerase 10 | Altid | I 1 tilstand |
| GORABgolgin, RAB6 interacting | Altid | I 1 tilstand |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Altid | I 2 tilstande |
| HNRNPH1heterogeneous nuclear ribonucleoprotein H1 | Altid | I 1 tilstand |
| IFITM5interferon induced transmembrane protein 5 | Altid | I 1 tilstand |
| IFT140intraflagellar transport 140 | Altid | I 1 tilstand |
| IGF1insulin like growth factor 1 | Altid | I 1 tilstand |
| IKZF2IKAROS family zinc finger 2 | Altid | I 1 tilstand |
| IL1RNinterleukin 1 receptor antagonist | Altid | I 1 tilstand |
| JPH1junctophilin 1 | Altid | I 1 tilstand |
| KLklotho | Altid | I 1 tilstand |
| LAMA5laminin subunit alpha 5 | Altid | I 1 tilstand |
| LMNAlamin A/C | Altid | I 3 tilstande |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Altid | I 1 tilstand |
| NPR2natriuretic peptide receptor 2 | Altid | I 1 tilstand |
| P3H1prolyl 3-hydroxylase 1 | Altid | I 1 tilstand |
| P4HBprolyl 4-hydroxylase subunit beta | Altid | I 1 tilstand |
| PAPPA2pappalysin 2 | Altid | I 1 tilstand |
| PHLDB1pleckstrin homology like domain family B member 1 | Altid | I 1 tilstand |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Altid | I 1 tilstand |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Altid | I 1 tilstand |
| PLEKHM1pleckstrin homology and RUN domain containing M1 | Altid | I 1 tilstand |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Altid | I 2 tilstande |
| PLOD3procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | Altid | I 1 tilstand |
| RBSNrabenosyn, RAB effector | Altid | I 2 tilstande |
| RFC4replication factor C subunit 4 | Altid | I 1 tilstand |
| SEC24DSEC24 homolog D, COPII component | Altid | I 1 tilstand |
| SERPINH1serpin family H member 1 | Altid | I 1 tilstand |
| SLC34A1solute carrier family 34 member 1 | Altid | I 2 tilstande |
| STN1STN1 subunit of CST complex | Altid | I 1 tilstand |
Vis 301 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| STX3syntaxin 3 | Altid | I 2 tilstande |
| TMEM38Btransmembrane protein 38B | Altid | I 1 tilstand |
| TMEM67transmembrane protein 67 | Altid | I 2 tilstande |
| TNFRSF11BTNF receptor superfamily member 11b | Altid | I 1 tilstand |
| UNC13Aunc-13 homolog A | Altid | I 1 tilstand |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Meget ofte (80–99 %) | I 2 tilstande |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Meget ofte (80–99 %) | I 1 tilstand |
| CCND1cyclin D1 | Meget ofte (80–99 %) | I 1 tilstand |
| CDC73cell division cycle 73 | Meget ofte (80–99 %) | I 1 tilstand |
| CHST3carbohydrate sulfotransferase 3 | Meget ofte (80–99 %) | I 1 tilstand |
| CYP19A1cytochrome P450 family 19 subfamily A member 1 | Meget ofte (80–99 %) | I 1 tilstand |
| DCAF17DDB1 and CUL4 associated factor 17 | Meget ofte (80–99 %) | I 1 tilstand |
| FGFR2fibroblast growth factor receptor 2 | Meget ofte (80–99 %) | I 1 tilstand |
| GBA1glucosylceramidase beta 1 | Meget ofte (80–99 %) | I 2 tilstande |
| GCM2GCM transcription factor 2 | Meget ofte (80–99 %) | I 2 tilstande |
| IFIH1interferon induced with helicase C domain 1 | Meget ofte (80–99 %) | I 1 tilstand |
| IRX5iroquois homeobox 5 | Meget ofte (80–99 %) | I 1 tilstand |
| MEN1menin 1 | Meget ofte (80–99 %) | I 2 tilstande |
| MMP14matrix metallopeptidase 14 | Meget ofte (80–99 %) | I 1 tilstand |
| MMP2matrix metallopeptidase 2 | Meget ofte (80–99 %) | I 2 tilstande |
| NOTCH2notch receptor 2 | Meget ofte (80–99 %) | I 2 tilstande |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Meget ofte (80–99 %) | I 2 tilstande |
| PYCR1pyrroline-5-carboxylate reductase 1 | Meget ofte (80–99 %) | I 2 tilstande |
| RNU4ATACRNA, U4atac small nuclear | Meget ofte (80–99 %) | I 1 tilstand |
| RSPRY1ring finger and SPRY domain containing 1 | Meget ofte (80–99 %) | I 2 tilstande |
| SCARB2scavenger receptor class B member 2 | Meget ofte (80–99 %) | I 1 tilstand |
| ZMPSTE24zinc metallopeptidase STE24 | Meget ofte (80–99 %) | I 1 tilstand |
| ADCY10adenylate cyclase 10 | Ofte (30–79 %) | I 1 tilstand |
| AFF3ALF transcription elongation factor 3 | Ofte (30–79 %) | I 1 tilstand |
| AGKacylglycerol kinase | Ofte (30–79 %) | I 1 tilstand |
| AIPAHR interacting HSP90 co-chaperone | Ofte (30–79 %) | I 1 tilstand |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Ofte (30–79 %) | I 2 tilstande |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Ofte (30–79 %) | I 1 tilstand |
| ANO5anoctamin 5 | Ofte (30–79 %) | I 2 tilstande |
| ATP7AATPase copper transporting alpha | Ofte (30–79 %) | I 1 tilstand |
| B4GALT7beta-1,4-galactosyltransferase 7 | Ofte (30–79 %) | I 2 tilstande |
| BMP15bone morphogenetic protein 15 | Ofte (30–79 %) | I 1 tilstand |
| BNC1basonuclin zinc finger protein 1 | Ofte (30–79 %) | I 1 tilstand |
| CDH23cadherin related 23 | Ofte (30–79 %) | I 2 tilstande |
| CHD7chromodomain helicase DNA binding protein 7 | Ofte (30–79 %) | I 1 tilstand |
| COG1component of oligomeric golgi complex 1 | Ofte (30–79 %) | I 2 tilstande |
| COL1A1collagen type I alpha 1 chain | Ofte (30–79 %) | I 4 tilstande |
| COL5A1collagen type V alpha 1 chain | Ofte (30–79 %) | I 1 tilstand |
| COL5A2collagen type V alpha 2 chain | Ofte (30–79 %) | I 1 tilstand |
| COX4I2cytochrome c oxidase subunit 4I2 | Ofte (30–79 %) | I 1 tilstand |
| DCHS1dachsous cadherin-related 1 | Ofte (30–79 %) | I 2 tilstande |
| DNA2DNA replication helicase/nuclease 2 | Ofte (30–79 %) | I 1 tilstand |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Ofte (30–79 %) | I 1 tilstand |
| DUSP6dual specificity phosphatase 6 | Ofte (30–79 %) | I 2 tilstande |
| ELNelastin | Ofte (30–79 %) | I 3 tilstande |
| EMILIN1elastin microfibril interfacer 1 | Ofte (30–79 %) | I 1 tilstand |
| EMX2empty spiracles homeobox 2 | Ofte (30–79 %) | I 1 tilstand |
| FAT4FAT atypical cadherin 4 | Ofte (30–79 %) | I 2 tilstande |
| FGF17fibroblast growth factor 17 | Ofte (30–79 %) | I 2 tilstande |
| FGF8fibroblast growth factor 8 | Ofte (30–79 %) | I 1 tilstand |
| FGFR1fibroblast growth factor receptor 1 | Ofte (30–79 %) | I 3 tilstande |
| FIGLAfolliculogenesis specific bHLH transcription factor | Ofte (30–79 %) | I 1 tilstand |
| FKBP14FKBP prolyl isomerase 14 | Ofte (30–79 %) | I 2 tilstande |
| FOXA2forkhead box A2 | Ofte (30–79 %) | I 1 tilstand |
| FSHRfollicle stimulating hormone receptor | Ofte (30–79 %) | I 1 tilstand |
| FUT8fucosyltransferase 8 | Ofte (30–79 %) | I 1 tilstand |
| GEMIN4gem nuclear organelle associated protein 4 | Ofte (30–79 %) | I 1 tilstand |
| GLI2GLI family zinc finger 2 | Ofte (30–79 %) | I 1 tilstand |
| GNRH1gonadotropin releasing hormone 1 | Ofte (30–79 %) | I 1 tilstand |
| GNRHRgonadotropin releasing hormone receptor | Ofte (30–79 %) | I 1 tilstand |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Ofte (30–79 %) | I 1 tilstand |
| HESX1HESX homeobox 1 | Ofte (30–79 %) | I 1 tilstand |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Ofte (30–79 %) | I 2 tilstande |
| KISS1KiSS-1 metastasis suppressor | Ofte (30–79 %) | I 1 tilstand |
| KISS1RKISS1 receptor | Ofte (30–79 %) | I 2 tilstande |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Ofte (30–79 %) | I 2 tilstande |
| LHX4LIM homeobox 4 | Ofte (30–79 %) | I 1 tilstand |
| LIFRLIF receptor subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| LRP5LDL receptor related protein 5 | Ofte (30–79 %) | I 3 tilstande |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Ofte (30–79 %) | I 1 tilstand |
| MIA3MIA SH3 domain ER export factor 3 | Ofte (30–79 %) | I 1 tilstand |
| MLXIPLMLX interacting protein like | Ofte (30–79 %) | I 1 tilstand |
| MRPS22mitochondrial ribosomal protein S22 | Ofte (30–79 %) | I 1 tilstand |
| MSH4mutS homolog 4 | Ofte (30–79 %) | I 1 tilstand |
| MTX2metaxin 2 | Ofte (30–79 %) | I 1 tilstand |
| NHLH2nescient helix-loop-helix 2 | Ofte (30–79 %) | I 1 tilstand |
| NR5A1nuclear receptor subfamily 5 group A member 1 | Ofte (30–79 %) | I 1 tilstand |
| NSMFNMDA receptor synaptonuclear signaling and neuronal migration factor | Ofte (30–79 %) | I 1 tilstand |
| NUP107nucleoporin 107 | Ofte (30–79 %) | I 1 tilstand |
| OTX2orthodenticle homeobox 2 | Ofte (30–79 %) | I 1 tilstand |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Ofte (30–79 %) | I 2 tilstande |
| PMM2phosphomannomutase 2 | Ofte (30–79 %) | I 2 tilstande |
| POLR3ARNA polymerase III subunit A | Ofte (30–79 %) | I 1 tilstand |
| POLR3HRNA polymerase III subunit H | Ofte (30–79 %) | I 1 tilstand |
| POU1F1POU class 1 homeobox 1 | Ofte (30–79 %) | I 1 tilstand |
| PPIBpeptidylprolyl isomerase B | Ofte (30–79 %) | I 1 tilstand |
| PROK2prokineticin 2 | Ofte (30–79 %) | I 1 tilstand |
| PROKR2prokineticin receptor 2 | Ofte (30–79 %) | I 1 tilstand |
| PROP1PROP paired-like homeobox 1 | Ofte (30–79 %) | I 2 tilstande |
| PSAPprosaposin | Ofte (30–79 %) | I 2 tilstande |
| PSMC3IPPSMC3 interacting protein | Ofte (30–79 %) | I 1 tilstand |
| PTH1Rparathyroid hormone 1 receptor | Ofte (30–79 %) | I 2 tilstande |
| PYGLglycogen phosphorylase L | Ofte (30–79 %) | I 1 tilstand |
| SATB2SATB homeobox 2 | Ofte (30–79 %) | I 2 tilstande |
| SLC10A1solute carrier family 10 member 1 | Ofte (30–79 %) | I 1 tilstand |
| SLC39A13solute carrier family 39 member 13 | Ofte (30–79 %) | I 2 tilstande |
| SLC39A8solute carrier family 39 member 8 | Ofte (30–79 %) | I 2 tilstande |
| SLC7A7solute carrier family 7 member 7 | Ofte (30–79 %) | I 1 tilstand |
| SMAD3SMAD family member 3 | Ofte (30–79 %) | I 1 tilstand |
| SMARCD2SWI/SNF related BAF chromatin remodeling complex subunit D2 | Ofte (30–79 %) | I 1 tilstand |
| SMPD1sphingomyelin phosphodiesterase 1 | Ofte (30–79 %) | I 2 tilstande |
| SPIDRscaffold protein involved in DNA repair | Ofte (30–79 %) | I 1 tilstand |
| SPRY4sprouty RTK signaling antagonist 4 | Ofte (30–79 %) | I 2 tilstande |
| STAT1signal transducer and activator of transcription 1 | Ofte (30–79 %) | I 2 tilstande |
| STAT3signal transducer and activator of transcription 3 | Ofte (30–79 %) | I 2 tilstande |
| TAC3tachykinin precursor 3 | Ofte (30–79 %) | I 1 tilstand |
| TACR3tachykinin receptor 3 | Ofte (30–79 %) | I 1 tilstand |
| TAF1TATA-box binding protein associated factor 1 | Ofte (30–79 %) | I 1 tilstand |
| TINF2TERF1 interacting nuclear factor 2 | Ofte (30–79 %) | I 1 tilstand |
| TNNC2troponin C2, fast skeletal type | Ofte (30–79 %) | I 1 tilstand |
| TRPV6transient receptor potential cation channel subfamily V member 6 | Ofte (30–79 %) | I 1 tilstand |
| WDR11WD repeat domain 11 | Ofte (30–79 %) | I 1 tilstand |
| ZNF668zinc finger protein 668 | Ofte (30–79 %) | I 1 tilstand |
| ZSWIM7zinc finger SWIM-type containing 7 | Ofte (30–79 %) | I 1 tilstand |
| AARS1alanyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Nogle gange (5–29 %) | I 2 tilstande |
| ADAMTSL2ADAMTS like 2 | Nogle gange (5–29 %) | I 2 tilstande |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| ATP8B1ATPase phospholipid transporting 8B1 | Nogle gange (5–29 %) | I 1 tilstand |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Nogle gange (5–29 %) | I 1 tilstand |
| BMP2bone morphogenetic protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Nogle gange (5–29 %) | I 2 tilstande |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Nogle gange (5–29 %) | I 1 tilstand |
| CARS1cysteinyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CBFBcore-binding factor subunit beta | Nogle gange (5–29 %) | I 1 tilstand |
| CBLCbl proto-oncogene | Nogle gange (5–29 %) | I 1 tilstand |
| CEACAM3CEA cell adhesion molecule 3 | Nogle gange (5–29 %) | I 1 tilstand |
| CEACAM6CEA cell adhesion molecule 6 | Nogle gange (5–29 %) | I 1 tilstand |
| CFTRCF transmembrane conductance regulator | Nogle gange (5–29 %) | I 1 tilstand |
| CLCA4chloride channel accessory 4 | Nogle gange (5–29 %) | I 1 tilstand |
| CLIP2CAP-Gly domain containing linker protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CLPBClpB family mitochondrial disaggregase | Nogle gange (5–29 %) | I 1 tilstand |
| COL1A2collagen type I alpha 2 chain | Nogle gange (5–29 %) | I 1 tilstand |
| COL7A1collagen type VII alpha 1 chain | Nogle gange (5–29 %) | I 1 tilstand |
| CTCFCCCTC-binding factor | Nogle gange (5–29 %) | I 2 tilstande |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DBR1debranching RNA lariats 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DCTN4dynactin subunit 4 | Nogle gange (5–29 %) | I 1 tilstand |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Nogle gange (5–29 %) | I 1 tilstand |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Nogle gange (5–29 %) | I 1 tilstand |
| EDNRAendothelin receptor type A | Nogle gange (5–29 %) | I 1 tilstand |
| EFL1elongation factor like GTPase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| EIF4Heukaryotic translation initiation factor 4H | Nogle gange (5–29 %) | I 1 tilstand |
| ELANEelastase, neutrophil expressed | Nogle gange (5–29 %) | I 1 tilstand |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Nogle gange (5–29 %) | I 1 tilstand |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Nogle gange (5–29 %) | I 1 tilstand |
| FBN1fibrillin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FBXO11F-box protein 11 | Nogle gange (5–29 %) | I 1 tilstand |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Nogle gange (5–29 %) | I 1 tilstand |
| GATA1GATA binding protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GCLCglutamate-cysteine ligase catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| GFI1growth factor independent 1 transcriptional repressor | Nogle gange (5–29 %) | I 1 tilstand |
| GLIS3GLIS family zinc finger 3 | Nogle gange (5–29 %) | I 1 tilstand |
| GPR35G protein-coupled receptor 35 | Nogle gange (5–29 %) | I 1 tilstand |
| GSTM3glutathione S-transferase mu 3 | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2E2general transcription factor IIE subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2H5general transcription factor IIH subunit 5 | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2Igeneral transcription factor IIi | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2IRD1GTF2I repeat domain containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2IRD2GTF2I repeat domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| HBBhemoglobin subunit beta | Nogle gange (5–29 %) | I 1 tilstand |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| HFEhomeostatic iron regulator | Nogle gange (5–29 %) | I 1 tilstand |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HMOX1heme oxygenase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Nogle gange (5–29 %) | I 2 tilstande |
| IER3IP1immediate early response 3 interacting protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| IFT54intraflagellar transport 54 | Nogle gange (5–29 %) | I 1 tilstand |
| IFT56intraflagellar transport 56 | Nogle gange (5–29 %) | I 1 tilstand |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Nogle gange (5–29 %) | I 1 tilstand |
| IL17RDinterleukin 17 receptor D | Nogle gange (5–29 %) | I 1 tilstand |
| IL6interleukin 6 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNN4potassium calcium-activated channel subfamily N member 4 | Nogle gange (5–29 %) | I 1 tilstand |
| KRASKRas proto-oncogene, GTPase | Nogle gange (5–29 %) | I 3 tilstande |
| LACC1laccase domain multifunctional purine nucleosidase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| LIMK1LIM domain kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| LTBP4latent transforming growth factor beta binding protein 4 | Nogle gange (5–29 %) | I 1 tilstand |
| LZTR1leucine zipper like post translational regulator 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MAGEL2MAGE family member L2 | Nogle gange (5–29 %) | I 5 tilstande |
| MAN2B1mannosidase alpha class 2B member 1 | Nogle gange (5–29 %) | I 2 tilstande |
| MDM4MDM4 regulator of p53 | Nogle gange (5–29 %) | I 1 tilstand |
| METTL27methyltransferase like 27 | Nogle gange (5–29 %) | I 1 tilstand |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Nogle gange (5–29 %) | I 2 tilstande |
| MIFmacrophage migration inhibitory factor | Nogle gange (5–29 %) | I 2 tilstande |
| MKRN3makorin ring finger protein 3 | Nogle gange (5–29 %) | I 1 tilstand |
| MMP1matrix metallopeptidase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MPLKIPM-phase specific PLK1 interacting protein | Nogle gange (5–29 %) | I 1 tilstand |
| MRASmuscle RAS oncogene homolog | Nogle gange (5–29 %) | I 1 tilstand |
| MST1macrophage stimulating 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MTTPmicrosomal triglyceride transfer protein | Nogle gange (5–29 %) | I 1 tilstand |
| NAA20N-alpha-acetyltransferase 20, NatB catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| NAF1nuclear assembly factor 1 ribonucleoprotein | Nogle gange (5–29 %) | I 1 tilstand |
| NCF1neutrophil cytosolic factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NDNnecdin, MAGE family member | Nogle gange (5–29 %) | I 3 tilstande |
| NF1neurofibromin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NFKBIANFKB inhibitor alpha | Nogle gange (5–29 %) | I 1 tilstand |
| NPAP1nuclear pore associated protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NRASNRAS proto-oncogene, GTPase | Nogle gange (5–29 %) | I 2 tilstande |
| OCA2OCA2 melanosomal transmembrane protein | Nogle gange (5–29 %) | I 3 tilstande |
| POC1APOC1 centriolar protein A | Nogle gange (5–29 %) | I 1 tilstand |
| POLEDNA polymerase epsilon, catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| PRLRprolactin receptor | Nogle gange (5–29 %) | I 1 tilstand |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Nogle gange (5–29 %) | I 1 tilstand |
| PWAR1Prader Willi/Angelman region RNA 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Nogle gange (5–29 %) | I 1 tilstand |
| RASA2RAS p21 protein activator 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RECQL4RecQ like helicase 4 | Nogle gange (5–29 %) | I 1 tilstand |
| RFC2replication factor C subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RIGIRNA sensor RIG-I | Nogle gange (5–29 %) | I 1 tilstand |
| RIT1Ras like without CAAX 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RNF113Aring finger protein 113A | Nogle gange (5–29 %) | I 1 tilstand |
| RNF125ring finger protein 125 | Nogle gange (5–29 %) | I 1 tilstand |
| RNU5B-1RNA, U5B small nuclear 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RRASRAS related | Nogle gange (5–29 %) | I 1 tilstand |
| RRAS2RAS related 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SBDSSBDS ribosome maturation factor | Nogle gange (5–29 %) | I 1 tilstand |
| SEC23ASEC23 homolog A, COPII component | Nogle gange (5–29 %) | I 1 tilstand |
| SEMA4Dsemaphorin 4D | Nogle gange (5–29 %) | I 1 tilstand |
| SERPINA1serpin family A member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SIM1SIM bHLH transcription factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SKISKI proto-oncogene | Nogle gange (5–29 %) | I 2 tilstande |
| SLC11A1solute carrier family 11 member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC26A9solute carrier family 26 member 9 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC2A2solute carrier family 2 member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC37A4solute carrier family 37 member 4 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC6A14solute carrier family 6 member 14 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC9A3solute carrier family 9 member A3 | Nogle gange (5–29 %) | I 1 tilstand |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Nogle gange (5–29 %) | I 1 tilstand |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Nogle gange (5–29 %) | I 1 tilstand |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Nogle gange (5–29 %) | I 3 tilstande |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SOX3SRY-box transcription factor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SPRED2sprouty related EVH1 domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SRP19signal recognition particle 19 | Nogle gange (5–29 %) | I 1 tilstand |
| STX1Asyntaxin 1A | Nogle gange (5–29 %) | I 2 tilstande |
| TARS1threonyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TBL2transducin beta like 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TCF12transcription factor 12 | Nogle gange (5–29 %) | I 1 tilstand |
| TCF4transcription factor 4 | Nogle gange (5–29 %) | I 1 tilstand |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Nogle gange (5–29 %) | I 1 tilstand |
| TERTtelomerase reverse transcriptase | Nogle gange (5–29 %) | I 1 tilstand |
| TGFB1transforming growth factor beta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM270transmembrane protein 270 | Nogle gange (5–29 %) | I 1 tilstand |
| URODuroporphyrinogen decarboxylase | Nogle gange (5–29 %) | I 1 tilstand |
| UROSuroporphyrinogen III synthase | Nogle gange (5–29 %) | I 2 tilstande |
| USP9Xubiquitin specific peptidase 9 X-linked | Nogle gange (5–29 %) | I 1 tilstand |
| VIPAS39VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog | Nogle gange (5–29 %) | I 1 tilstand |
| VPS33BVPS33B late endosome and lysosome associated | Nogle gange (5–29 %) | I 1 tilstand |
| VPS37DVPS37D subunit of ESCRT-I | Nogle gange (5–29 %) | I 1 tilstand |
| ZFXzinc finger protein X-linked | Nogle gange (5–29 %) | I 1 tilstand |
| ZNF699zinc finger protein 699 | Nogle gange (5–29 %) | I 1 tilstand |
| ANAPC1anaphase promoting complex subunit 1 | Sjældent (1–4%) | I 1 tilstand |
| FBLN5fibulin 5 | Sjældent (1–4%) | I 1 tilstand |
| SLC35A2solute carrier family 35 member A2 | Sjældent (1–4%) | I 1 tilstand |
| AVParginine vasopressin | Ikke registreret | I 1 tilstand |
| CAVIN1caveolae associated protein 1 | Ikke registreret | I 1 tilstand |
| CREB3L1cAMP responsive element binding protein 3 like 1 | Ikke registreret | I 1 tilstand |
| CRTAPcartilage associated protein | Ikke registreret | I 1 tilstand |
| CTC1CST telomere replication complex component 1 | Ikke registreret | I 1 tilstand |
| CYP3A4cytochrome P450 family 3 subfamily A member 4 | Ikke registreret | I 1 tilstand |
| EEDembryonic ectoderm development | Ikke registreret | I 1 tilstand |
| FBN2fibrillin 2 | Ikke registreret | I 1 tilstand |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Ikke registreret | I 1 tilstand |
| GNASGNAS complex locus | Ikke registreret | I 1 tilstand |
| GNPATglyceronephosphate O-acyltransferase | Ikke registreret | I 1 tilstand |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Ikke registreret | I 1 tilstand |
| HPGD15-hydroxyprostaglandin dehydrogenase | Ikke registreret | I 1 tilstand |
| HRASHRas proto-oncogene, GTPase | Ikke registreret | I 1 tilstand |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Ikke registreret | I 1 tilstand |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Ikke registreret | I 1 tilstand |
| KCNJ1potassium inwardly rectifying channel subfamily J member 1 | Ikke registreret | I 1 tilstand |
| MAFBMAF bZIP transcription factor B | Ikke registreret | I 1 tilstand |
| MAP2K1mitogen-activated protein kinase kinase 1 | Ikke registreret | I 1 tilstand |
| MAP2K2mitogen-activated protein kinase kinase 2 | Ikke registreret | I 1 tilstand |
| MTAPmethylthioadenosine phosphorylase | Ikke registreret | I 1 tilstand |
| NAGAalpha-N-acetylgalactosaminidase | Ikke registreret | I 1 tilstand |
| NHERF1NHERF family PDZ scaffold protein 1 | Ikke registreret | I 1 tilstand |
| PDE11Aphosphodiesterase 11A | Ikke registreret | I 1 tilstand |
| PLOD2procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 | Ikke registreret | I 1 tilstand |
| PRKACAprotein kinase cAMP-activated catalytic subunit alpha | Ikke registreret | I 1 tilstand |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Ikke registreret | I 1 tilstand |
| RPL11ribosomal protein L11 | Ikke registreret | I 1 tilstand |
| SGMS2sphingomyelin synthase 2 | Ikke registreret | I 1 tilstand |
| SH3PXD2BSH3 and PX domains 2B | Ikke registreret | I 1 tilstand |
| SLC12A1solute carrier family 12 member 1 | Ikke registreret | I 1 tilstand |
| SLC17A5solute carrier family 17 member 5 | Ikke registreret | I 1 tilstand |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Ikke registreret | I 1 tilstand |
| TAPT1transmembrane anterior posterior transformation 1 | Ikke registreret | I 1 tilstand |
| TGFB2transforming growth factor beta 2 | Ikke registreret | I 1 tilstand |
| TONSLtonsoku like, DNA repair protein | Ikke registreret | I 1 tilstand |
| TREM2triggering receptor expressed on myeloid cells 2 | Ikke registreret | I 1 tilstand |
| TRPS1transcriptional repressor GATA binding 1 | Ikke registreret | I 2 tilstande |
| UNC80unc-80 subunit of NALCN channel complex | Ikke registreret | I 1 tilstand |
| XYLT2xylosyltransferase 2 | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
Bredere træk
Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger