Egenskap
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.
Sammendrag
- Også kalt
- Generalised osteopenia, Generalized osteopenia, Osteopaenia
- Kroppssystem
- Abnormality of the musculoskeletal system
ReferansegenomGRCh38hg38
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Endringer i disse genene forårsaker sjeldne tilstander der Osteopenia forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| AEBP1AE binding protein 1 | Alltid | I 2 tilstander |
| ANTXR2ANTXR cell adhesion molecule 2 | Alltid | I 2 tilstander |
| B3GALT6beta-1,3-galactosyltransferase 6 | Alltid | I 3 tilstander |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Alltid | I 1 tilstand |
| COPB2coat protein complex I subunit beta 2 | Alltid | I 1 tilstand |
| CRIPTCXXC repeat containing interactor of PDZ3 domain | Alltid | I 1 tilstand |
| DDOSTdolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit | Alltid | I 2 tilstander |
| ERI1exoribonuclease 1 | Alltid | I 1 tilstand |
| ESR1estrogen receptor 1 | Alltid | I 2 tilstander |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Alltid | I 1 tilstand |
| FKBP10FKBP prolyl isomerase 10 | Alltid | I 1 tilstand |
| GORABgolgin, RAB6 interacting | Alltid | I 1 tilstand |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Alltid | I 2 tilstander |
| HNRNPH1heterogeneous nuclear ribonucleoprotein H1 | Alltid | I 1 tilstand |
| IFITM5interferon induced transmembrane protein 5 | Alltid | I 1 tilstand |
| IFT140intraflagellar transport 140 | Alltid | I 1 tilstand |
| IGF1insulin like growth factor 1 | Alltid | I 1 tilstand |
| IKZF2IKAROS family zinc finger 2 | Alltid | I 1 tilstand |
| IL1RNinterleukin 1 receptor antagonist | Alltid | I 1 tilstand |
| JPH1junctophilin 1 | Alltid | I 1 tilstand |
| KLklotho | Alltid | I 1 tilstand |
| LAMA5laminin subunit alpha 5 | Alltid | I 1 tilstand |
| LMNAlamin A/C | Alltid | I 3 tilstander |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Alltid | I 1 tilstand |
| NPR2natriuretic peptide receptor 2 | Alltid | I 1 tilstand |
| P3H1prolyl 3-hydroxylase 1 | Alltid | I 1 tilstand |
| P4HBprolyl 4-hydroxylase subunit beta | Alltid | I 1 tilstand |
| PAPPA2pappalysin 2 | Alltid | I 1 tilstand |
| PHLDB1pleckstrin homology like domain family B member 1 | Alltid | I 1 tilstand |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Alltid | I 1 tilstand |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Alltid | I 1 tilstand |
| PLEKHM1pleckstrin homology and RUN domain containing M1 | Alltid | I 1 tilstand |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Alltid | I 2 tilstander |
| PLOD3procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | Alltid | I 1 tilstand |
| RBSNrabenosyn, RAB effector | Alltid | I 2 tilstander |
| RFC4replication factor C subunit 4 | Alltid | I 1 tilstand |
| SEC24DSEC24 homolog D, COPII component | Alltid | I 1 tilstand |
| SERPINH1serpin family H member 1 | Alltid | I 1 tilstand |
| SLC34A1solute carrier family 34 member 1 | Alltid | I 2 tilstander |
| STN1STN1 subunit of CST complex | Alltid | I 1 tilstand |
Vis 301 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| STX3syntaxin 3 | Alltid | I 2 tilstander |
| TMEM38Btransmembrane protein 38B | Alltid | I 1 tilstand |
| TMEM67transmembrane protein 67 | Alltid | I 2 tilstander |
| TNFRSF11BTNF receptor superfamily member 11b | Alltid | I 1 tilstand |
| UNC13Aunc-13 homolog A | Alltid | I 1 tilstand |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Svært ofte (80–99 %) | I 2 tilstander |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Svært ofte (80–99 %) | I 1 tilstand |
| CCND1cyclin D1 | Svært ofte (80–99 %) | I 1 tilstand |
| CDC73cell division cycle 73 | Svært ofte (80–99 %) | I 1 tilstand |
| CHST3carbohydrate sulfotransferase 3 | Svært ofte (80–99 %) | I 1 tilstand |
| CYP19A1cytochrome P450 family 19 subfamily A member 1 | Svært ofte (80–99 %) | I 1 tilstand |
| DCAF17DDB1 and CUL4 associated factor 17 | Svært ofte (80–99 %) | I 1 tilstand |
| FGFR2fibroblast growth factor receptor 2 | Svært ofte (80–99 %) | I 1 tilstand |
| GBA1glucosylceramidase beta 1 | Svært ofte (80–99 %) | I 2 tilstander |
| GCM2GCM transcription factor 2 | Svært ofte (80–99 %) | I 2 tilstander |
| IFIH1interferon induced with helicase C domain 1 | Svært ofte (80–99 %) | I 1 tilstand |
| IRX5iroquois homeobox 5 | Svært ofte (80–99 %) | I 1 tilstand |
| MEN1menin 1 | Svært ofte (80–99 %) | I 2 tilstander |
| MMP14matrix metallopeptidase 14 | Svært ofte (80–99 %) | I 1 tilstand |
| MMP2matrix metallopeptidase 2 | Svært ofte (80–99 %) | I 2 tilstander |
| NOTCH2notch receptor 2 | Svært ofte (80–99 %) | I 2 tilstander |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Svært ofte (80–99 %) | I 2 tilstander |
| PYCR1pyrroline-5-carboxylate reductase 1 | Svært ofte (80–99 %) | I 2 tilstander |
| RNU4ATACRNA, U4atac small nuclear | Svært ofte (80–99 %) | I 1 tilstand |
| RSPRY1ring finger and SPRY domain containing 1 | Svært ofte (80–99 %) | I 2 tilstander |
| SCARB2scavenger receptor class B member 2 | Svært ofte (80–99 %) | I 1 tilstand |
| ZMPSTE24zinc metallopeptidase STE24 | Svært 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 tilstander |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Ofte (30–79 %) | I 1 tilstand |
| ANO5anoctamin 5 | Ofte (30–79 %) | I 2 tilstander |
| ATP7AATPase copper transporting alpha | Ofte (30–79 %) | I 1 tilstand |
| B4GALT7beta-1,4-galactosyltransferase 7 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| CHD7chromodomain helicase DNA binding protein 7 | Ofte (30–79 %) | I 1 tilstand |
| COG1component of oligomeric golgi complex 1 | Ofte (30–79 %) | I 2 tilstander |
| COL1A1collagen type I alpha 1 chain | Ofte (30–79 %) | I 4 tilstander |
| 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 tilstander |
| 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 tilstander |
| ELNelastin | Ofte (30–79 %) | I 3 tilstander |
| 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 tilstander |
| FGF17fibroblast growth factor 17 | Ofte (30–79 %) | I 2 tilstander |
| FGF8fibroblast growth factor 8 | Ofte (30–79 %) | I 1 tilstand |
| FGFR1fibroblast growth factor receptor 1 | Ofte (30–79 %) | I 3 tilstander |
| FIGLAfolliculogenesis specific bHLH transcription factor | Ofte (30–79 %) | I 1 tilstand |
| FKBP14FKBP prolyl isomerase 14 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| KISS1KiSS-1 metastasis suppressor | Ofte (30–79 %) | I 1 tilstand |
| KISS1RKISS1 receptor | Ofte (30–79 %) | I 2 tilstander |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| PMM2phosphomannomutase 2 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| PSAPprosaposin | Ofte (30–79 %) | I 2 tilstander |
| PSMC3IPPSMC3 interacting protein | Ofte (30–79 %) | I 1 tilstand |
| PTH1Rparathyroid hormone 1 receptor | Ofte (30–79 %) | I 2 tilstander |
| PYGLglycogen phosphorylase L | Ofte (30–79 %) | I 1 tilstand |
| SATB2SATB homeobox 2 | Ofte (30–79 %) | I 2 tilstander |
| SLC10A1solute carrier family 10 member 1 | Ofte (30–79 %) | I 1 tilstand |
| SLC39A13solute carrier family 39 member 13 | Ofte (30–79 %) | I 2 tilstander |
| SLC39A8solute carrier family 39 member 8 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| SPIDRscaffold protein involved in DNA repair | Ofte (30–79 %) | I 1 tilstand |
| SPRY4sprouty RTK signaling antagonist 4 | Ofte (30–79 %) | I 2 tilstander |
| STAT1signal transducer and activator of transcription 1 | Ofte (30–79 %) | I 2 tilstander |
| STAT3signal transducer and activator of transcription 3 | Ofte (30–79 %) | I 2 tilstander |
| 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 | Noen ganger (5–29 %) | I 1 tilstand |
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Noen ganger (5–29 %) | I 2 tilstander |
| ADAMTSL2ADAMTS like 2 | Noen ganger (5–29 %) | I 2 tilstander |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| ATP8B1ATPase phospholipid transporting 8B1 | Noen ganger (5–29 %) | I 1 tilstand |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Noen ganger (5–29 %) | I 1 tilstand |
| BMP2bone morphogenetic protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Noen ganger (5–29 %) | I 2 tilstander |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Noen ganger (5–29 %) | I 1 tilstand |
| CARS1cysteinyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CBFBcore-binding factor subunit beta | Noen ganger (5–29 %) | I 1 tilstand |
| CBLCbl proto-oncogene | Noen ganger (5–29 %) | I 1 tilstand |
| CEACAM3CEA cell adhesion molecule 3 | Noen ganger (5–29 %) | I 1 tilstand |
| CEACAM6CEA cell adhesion molecule 6 | Noen ganger (5–29 %) | I 1 tilstand |
| CFTRCF transmembrane conductance regulator | Noen ganger (5–29 %) | I 1 tilstand |
| CLCA4chloride channel accessory 4 | Noen ganger (5–29 %) | I 1 tilstand |
| CLIP2CAP-Gly domain containing linker protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CLPBClpB family mitochondrial disaggregase | Noen ganger (5–29 %) | I 1 tilstand |
| COL1A2collagen type I alpha 2 chain | Noen ganger (5–29 %) | I 1 tilstand |
| COL7A1collagen type VII alpha 1 chain | Noen ganger (5–29 %) | I 1 tilstand |
| CTCFCCCTC-binding factor | Noen ganger (5–29 %) | I 2 tilstander |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DBR1debranching RNA lariats 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DCTN4dynactin subunit 4 | Noen ganger (5–29 %) | I 1 tilstand |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Noen ganger (5–29 %) | I 1 tilstand |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Noen ganger (5–29 %) | I 1 tilstand |
| EDNRAendothelin receptor type A | Noen ganger (5–29 %) | I 1 tilstand |
| EFL1elongation factor like GTPase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| EIF4Heukaryotic translation initiation factor 4H | Noen ganger (5–29 %) | I 1 tilstand |
| ELANEelastase, neutrophil expressed | Noen ganger (5–29 %) | I 1 tilstand |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Noen ganger (5–29 %) | I 1 tilstand |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Noen ganger (5–29 %) | I 1 tilstand |
| FBN1fibrillin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FBXO11F-box protein 11 | Noen ganger (5–29 %) | I 1 tilstand |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Noen ganger (5–29 %) | I 1 tilstand |
| GATA1GATA binding protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GCLCglutamate-cysteine ligase catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| GFI1growth factor independent 1 transcriptional repressor | Noen ganger (5–29 %) | I 1 tilstand |
| GLIS3GLIS family zinc finger 3 | Noen ganger (5–29 %) | I 1 tilstand |
| GPR35G protein-coupled receptor 35 | Noen ganger (5–29 %) | I 1 tilstand |
| GSTM3glutathione S-transferase mu 3 | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2E2general transcription factor IIE subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2H5general transcription factor IIH subunit 5 | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2Igeneral transcription factor IIi | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2IRD1GTF2I repeat domain containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2IRD2GTF2I repeat domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| HBBhemoglobin subunit beta | Noen ganger (5–29 %) | I 1 tilstand |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| HFEhomeostatic iron regulator | Noen ganger (5–29 %) | I 1 tilstand |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HMOX1heme oxygenase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Noen ganger (5–29 %) | I 2 tilstander |
| IER3IP1immediate early response 3 interacting protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| IFT54intraflagellar transport 54 | Noen ganger (5–29 %) | I 1 tilstand |
| IFT56intraflagellar transport 56 | Noen ganger (5–29 %) | I 1 tilstand |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Noen ganger (5–29 %) | I 1 tilstand |
| IL17RDinterleukin 17 receptor D | Noen ganger (5–29 %) | I 1 tilstand |
| IL6interleukin 6 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNN4potassium calcium-activated channel subfamily N member 4 | Noen ganger (5–29 %) | I 1 tilstand |
| KRASKRas proto-oncogene, GTPase | Noen ganger (5–29 %) | I 3 tilstander |
| LACC1laccase domain multifunctional purine nucleosidase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| LIMK1LIM domain kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| LTBP4latent transforming growth factor beta binding protein 4 | Noen ganger (5–29 %) | I 1 tilstand |
| LZTR1leucine zipper like post translational regulator 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MAGEL2MAGE family member L2 | Noen ganger (5–29 %) | I 5 tilstander |
| MAN2B1mannosidase alpha class 2B member 1 | Noen ganger (5–29 %) | I 2 tilstander |
| MDM4MDM4 regulator of p53 | Noen ganger (5–29 %) | I 1 tilstand |
| METTL27methyltransferase like 27 | Noen ganger (5–29 %) | I 1 tilstand |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Noen ganger (5–29 %) | I 2 tilstander |
| MIFmacrophage migration inhibitory factor | Noen ganger (5–29 %) | I 2 tilstander |
| MKRN3makorin ring finger protein 3 | Noen ganger (5–29 %) | I 1 tilstand |
| MMP1matrix metallopeptidase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MPLKIPM-phase specific PLK1 interacting protein | Noen ganger (5–29 %) | I 1 tilstand |
| MRASmuscle RAS oncogene homolog | Noen ganger (5–29 %) | I 1 tilstand |
| MST1macrophage stimulating 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MTTPmicrosomal triglyceride transfer protein | Noen ganger (5–29 %) | I 1 tilstand |
| NAA20N-alpha-acetyltransferase 20, NatB catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| NAF1nuclear assembly factor 1 ribonucleoprotein | Noen ganger (5–29 %) | I 1 tilstand |
| NCF1neutrophil cytosolic factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NDNnecdin, MAGE family member | Noen ganger (5–29 %) | I 3 tilstander |
| NF1neurofibromin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NFKBIANFKB inhibitor alpha | Noen ganger (5–29 %) | I 1 tilstand |
| NPAP1nuclear pore associated protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NRASNRAS proto-oncogene, GTPase | Noen ganger (5–29 %) | I 2 tilstander |
| OCA2OCA2 melanosomal transmembrane protein | Noen ganger (5–29 %) | I 3 tilstander |
| POC1APOC1 centriolar protein A | Noen ganger (5–29 %) | I 1 tilstand |
| POLEDNA polymerase epsilon, catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| PRLRprolactin receptor | Noen ganger (5–29 %) | I 1 tilstand |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Noen ganger (5–29 %) | I 1 tilstand |
| PWAR1Prader Willi/Angelman region RNA 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Noen ganger (5–29 %) | I 1 tilstand |
| RASA2RAS p21 protein activator 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RECQL4RecQ like helicase 4 | Noen ganger (5–29 %) | I 1 tilstand |
| RFC2replication factor C subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RIGIRNA sensor RIG-I | Noen ganger (5–29 %) | I 1 tilstand |
| RIT1Ras like without CAAX 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RNF113Aring finger protein 113A | Noen ganger (5–29 %) | I 1 tilstand |
| RNF125ring finger protein 125 | Noen ganger (5–29 %) | I 1 tilstand |
| RNU5B-1RNA, U5B small nuclear 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RRASRAS related | Noen ganger (5–29 %) | I 1 tilstand |
| RRAS2RAS related 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SBDSSBDS ribosome maturation factor | Noen ganger (5–29 %) | I 1 tilstand |
| SEC23ASEC23 homolog A, COPII component | Noen ganger (5–29 %) | I 1 tilstand |
| SEMA4Dsemaphorin 4D | Noen ganger (5–29 %) | I 1 tilstand |
| SERPINA1serpin family A member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SIM1SIM bHLH transcription factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SKISKI proto-oncogene | Noen ganger (5–29 %) | I 2 tilstander |
| SLC11A1solute carrier family 11 member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC26A9solute carrier family 26 member 9 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC2A2solute carrier family 2 member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC37A4solute carrier family 37 member 4 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC6A14solute carrier family 6 member 14 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC9A3solute carrier family 9 member A3 | Noen ganger (5–29 %) | I 1 tilstand |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Noen ganger (5–29 %) | I 1 tilstand |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Noen ganger (5–29 %) | I 1 tilstand |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Noen ganger (5–29 %) | I 3 tilstander |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SOX3SRY-box transcription factor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SPRED2sprouty related EVH1 domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SRP19signal recognition particle 19 | Noen ganger (5–29 %) | I 1 tilstand |
| STX1Asyntaxin 1A | Noen ganger (5–29 %) | I 2 tilstander |
| TARS1threonyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TBL2transducin beta like 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TCF12transcription factor 12 | Noen ganger (5–29 %) | I 1 tilstand |
| TCF4transcription factor 4 | Noen ganger (5–29 %) | I 1 tilstand |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Noen ganger (5–29 %) | I 1 tilstand |
| TERTtelomerase reverse transcriptase | Noen ganger (5–29 %) | I 1 tilstand |
| TGFB1transforming growth factor beta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM270transmembrane protein 270 | Noen ganger (5–29 %) | I 1 tilstand |
| URODuroporphyrinogen decarboxylase | Noen ganger (5–29 %) | I 1 tilstand |
| UROSuroporphyrinogen III synthase | Noen ganger (5–29 %) | I 2 tilstander |
| USP9Xubiquitin specific peptidase 9 X-linked | Noen ganger (5–29 %) | I 1 tilstand |
| VIPAS39VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog | Noen ganger (5–29 %) | I 1 tilstand |
| VPS33BVPS33B late endosome and lysosome associated | Noen ganger (5–29 %) | I 1 tilstand |
| VPS37DVPS37D subunit of ESCRT-I | Noen ganger (5–29 %) | I 1 tilstand |
| ZFXzinc finger protein X-linked | Noen ganger (5–29 %) | I 1 tilstand |
| ZNF699zinc finger protein 699 | Noen ganger (5–29 %) | I 1 tilstand |
| ANAPC1anaphase promoting complex subunit 1 | Sjelden (1–4%) | I 1 tilstand |
| FBLN5fibulin 5 | Sjelden (1–4%) | I 1 tilstand |
| SLC35A2solute carrier family 35 member A2 | Sjelden (1–4%) | I 1 tilstand |
| AVParginine vasopressin | Ikke registrert | I 1 tilstand |
| CAVIN1caveolae associated protein 1 | Ikke registrert | I 1 tilstand |
| CREB3L1cAMP responsive element binding protein 3 like 1 | Ikke registrert | I 1 tilstand |
| CRTAPcartilage associated protein | Ikke registrert | I 1 tilstand |
| CTC1CST telomere replication complex component 1 | Ikke registrert | I 1 tilstand |
| CYP3A4cytochrome P450 family 3 subfamily A member 4 | Ikke registrert | I 1 tilstand |
| EEDembryonic ectoderm development | Ikke registrert | I 1 tilstand |
| FBN2fibrillin 2 | Ikke registrert | I 1 tilstand |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Ikke registrert | I 1 tilstand |
| GNASGNAS complex locus | Ikke registrert | I 1 tilstand |
| GNPATglyceronephosphate O-acyltransferase | Ikke registrert | I 1 tilstand |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Ikke registrert | I 1 tilstand |
| HPGD15-hydroxyprostaglandin dehydrogenase | Ikke registrert | I 1 tilstand |
| HRASHRas proto-oncogene, GTPase | Ikke registrert | I 1 tilstand |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Ikke registrert | I 1 tilstand |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Ikke registrert | I 1 tilstand |
| KCNJ1potassium inwardly rectifying channel subfamily J member 1 | Ikke registrert | I 1 tilstand |
| MAFBMAF bZIP transcription factor B | Ikke registrert | I 1 tilstand |
| MAP2K1mitogen-activated protein kinase kinase 1 | Ikke registrert | I 1 tilstand |
| MAP2K2mitogen-activated protein kinase kinase 2 | Ikke registrert | I 1 tilstand |
| MTAPmethylthioadenosine phosphorylase | Ikke registrert | I 1 tilstand |
| NAGAalpha-N-acetylgalactosaminidase | Ikke registrert | I 1 tilstand |
| NHERF1NHERF family PDZ scaffold protein 1 | Ikke registrert | I 1 tilstand |
| PDE11Aphosphodiesterase 11A | Ikke registrert | I 1 tilstand |
| PLOD2procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 | Ikke registrert | I 1 tilstand |
| PRKACAprotein kinase cAMP-activated catalytic subunit alpha | Ikke registrert | I 1 tilstand |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Ikke registrert | I 1 tilstand |
| RPL11ribosomal protein L11 | Ikke registrert | I 1 tilstand |
| SGMS2sphingomyelin synthase 2 | Ikke registrert | I 1 tilstand |
| SH3PXD2BSH3 and PX domains 2B | Ikke registrert | I 1 tilstand |
| SLC12A1solute carrier family 12 member 1 | Ikke registrert | I 1 tilstand |
| SLC17A5solute carrier family 17 member 5 | Ikke registrert | I 1 tilstand |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Ikke registrert | I 1 tilstand |
| TAPT1transmembrane anterior posterior transformation 1 | Ikke registrert | I 1 tilstand |
| TGFB2transforming growth factor beta 2 | Ikke registrert | I 1 tilstand |
| TONSLtonsoku like, DNA repair protein | Ikke registrert | I 1 tilstand |
| TREM2triggering receptor expressed on myeloid cells 2 | Ikke registrert | I 1 tilstand |
| TRPS1transcriptional repressor GATA binding 1 | Ikke registrert | I 2 tilstander |
| UNC80unc-80 subunit of NALCN channel complex | Ikke registrert | I 1 tilstand |
| XYLT2xylosyltransferase 2 | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Bredere egenskaper
Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.16-c6eea6bf.
Én test. En livstid med svar.
Fra 449 $Gratis frakt · Resultater på 6–8 uker