Kenmerk
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.
Samenvatting
- Ook bekend als
- Generalised osteopenia, Generalized osteopenia, Osteopaenia
- Lichaamssysteem
- Abnormality of the musculoskeletal system
ReferentiegenoomGRCh38hg38
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Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Osteopenia voorkomt. De meeste mensen met dit kenmerk hebben geen van die aandoeningen, en een gen op deze lijst zegt niets over het eigen genoom van iemand.
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| AEBP1AE binding protein 1 | Altijd | In 2 aandoeningen |
| ANTXR2ANTXR cell adhesion molecule 2 | Altijd | In 2 aandoeningen |
| B3GALT6beta-1,3-galactosyltransferase 6 | Altijd | In 3 aandoeningen |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Altijd | In 1 aandoening |
| COPB2coat protein complex I subunit beta 2 | Altijd | In 1 aandoening |
| CRIPTCXXC repeat containing interactor of PDZ3 domain | Altijd | In 1 aandoening |
| DDOSTdolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit | Altijd | In 2 aandoeningen |
| ERI1exoribonuclease 1 | Altijd | In 1 aandoening |
| ESR1estrogen receptor 1 | Altijd | In 2 aandoeningen |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Altijd | In 1 aandoening |
| FKBP10FKBP prolyl isomerase 10 | Altijd | In 1 aandoening |
| GORABgolgin, RAB6 interacting | Altijd | In 1 aandoening |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Altijd | In 2 aandoeningen |
| HNRNPH1heterogeneous nuclear ribonucleoprotein H1 | Altijd | In 1 aandoening |
| IFITM5interferon induced transmembrane protein 5 | Altijd | In 1 aandoening |
| IFT140intraflagellar transport 140 | Altijd | In 1 aandoening |
| IGF1insulin like growth factor 1 | Altijd | In 1 aandoening |
| IKZF2IKAROS family zinc finger 2 | Altijd | In 1 aandoening |
| IL1RNinterleukin 1 receptor antagonist | Altijd | In 1 aandoening |
| JPH1junctophilin 1 | Altijd | In 1 aandoening |
| KLklotho | Altijd | In 1 aandoening |
| LAMA5laminin subunit alpha 5 | Altijd | In 1 aandoening |
| LMNAlamin A/C | Altijd | In 3 aandoeningen |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Altijd | In 1 aandoening |
| NPR2natriuretic peptide receptor 2 | Altijd | In 1 aandoening |
| P3H1prolyl 3-hydroxylase 1 | Altijd | In 1 aandoening |
| P4HBprolyl 4-hydroxylase subunit beta | Altijd | In 1 aandoening |
| PAPPA2pappalysin 2 | Altijd | In 1 aandoening |
| PHLDB1pleckstrin homology like domain family B member 1 | Altijd | In 1 aandoening |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Altijd | In 1 aandoening |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Altijd | In 1 aandoening |
| PLEKHM1pleckstrin homology and RUN domain containing M1 | Altijd | In 1 aandoening |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Altijd | In 2 aandoeningen |
| PLOD3procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | Altijd | In 1 aandoening |
| RBSNrabenosyn, RAB effector | Altijd | In 2 aandoeningen |
| RFC4replication factor C subunit 4 | Altijd | In 1 aandoening |
| SEC24DSEC24 homolog D, COPII component | Altijd | In 1 aandoening |
| SERPINH1serpin family H member 1 | Altijd | In 1 aandoening |
| SLC34A1solute carrier family 34 member 1 | Altijd | In 2 aandoeningen |
| STN1STN1 subunit of CST complex | Altijd | In 1 aandoening |
Toon nog 301 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| STX3syntaxin 3 | Altijd | In 2 aandoeningen |
| TMEM38Btransmembrane protein 38B | Altijd | In 1 aandoening |
| TMEM67transmembrane protein 67 | Altijd | In 2 aandoeningen |
| TNFRSF11BTNF receptor superfamily member 11b | Altijd | In 1 aandoening |
| UNC13Aunc-13 homolog A | Altijd | In 1 aandoening |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Heel vaak (80–99%) | In 2 aandoeningen |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Heel vaak (80–99%) | In 1 aandoening |
| CCND1cyclin D1 | Heel vaak (80–99%) | In 1 aandoening |
| CDC73cell division cycle 73 | Heel vaak (80–99%) | In 1 aandoening |
| CHST3carbohydrate sulfotransferase 3 | Heel vaak (80–99%) | In 1 aandoening |
| CYP19A1cytochrome P450 family 19 subfamily A member 1 | Heel vaak (80–99%) | In 1 aandoening |
| DCAF17DDB1 and CUL4 associated factor 17 | Heel vaak (80–99%) | In 1 aandoening |
| FGFR2fibroblast growth factor receptor 2 | Heel vaak (80–99%) | In 1 aandoening |
| GBA1glucosylceramidase beta 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| GCM2GCM transcription factor 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| IFIH1interferon induced with helicase C domain 1 | Heel vaak (80–99%) | In 1 aandoening |
| IRX5iroquois homeobox 5 | Heel vaak (80–99%) | In 1 aandoening |
| MEN1menin 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| MMP14matrix metallopeptidase 14 | Heel vaak (80–99%) | In 1 aandoening |
| MMP2matrix metallopeptidase 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| NOTCH2notch receptor 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Heel vaak (80–99%) | In 2 aandoeningen |
| PYCR1pyrroline-5-carboxylate reductase 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| RNU4ATACRNA, U4atac small nuclear | Heel vaak (80–99%) | In 1 aandoening |
| RSPRY1ring finger and SPRY domain containing 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| SCARB2scavenger receptor class B member 2 | Heel vaak (80–99%) | In 1 aandoening |
| ZMPSTE24zinc metallopeptidase STE24 | Heel vaak (80–99%) | In 1 aandoening |
| ADCY10adenylate cyclase 10 | Vaak (30–79%) | In 1 aandoening |
| AFF3ALF transcription elongation factor 3 | Vaak (30–79%) | In 1 aandoening |
| AGKacylglycerol kinase | Vaak (30–79%) | In 1 aandoening |
| AIPAHR interacting HSP90 co-chaperone | Vaak (30–79%) | In 1 aandoening |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Vaak (30–79%) | In 2 aandoeningen |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Vaak (30–79%) | In 1 aandoening |
| ANO5anoctamin 5 | Vaak (30–79%) | In 2 aandoeningen |
| ATP7AATPase copper transporting alpha | Vaak (30–79%) | In 1 aandoening |
| B4GALT7beta-1,4-galactosyltransferase 7 | Vaak (30–79%) | In 2 aandoeningen |
| BMP15bone morphogenetic protein 15 | Vaak (30–79%) | In 1 aandoening |
| BNC1basonuclin zinc finger protein 1 | Vaak (30–79%) | In 1 aandoening |
| CDH23cadherin related 23 | Vaak (30–79%) | In 2 aandoeningen |
| CHD7chromodomain helicase DNA binding protein 7 | Vaak (30–79%) | In 1 aandoening |
| COG1component of oligomeric golgi complex 1 | Vaak (30–79%) | In 2 aandoeningen |
| COL1A1collagen type I alpha 1 chain | Vaak (30–79%) | In 4 aandoeningen |
| COL5A1collagen type V alpha 1 chain | Vaak (30–79%) | In 1 aandoening |
| COL5A2collagen type V alpha 2 chain | Vaak (30–79%) | In 1 aandoening |
| COX4I2cytochrome c oxidase subunit 4I2 | Vaak (30–79%) | In 1 aandoening |
| DCHS1dachsous cadherin-related 1 | Vaak (30–79%) | In 2 aandoeningen |
| DNA2DNA replication helicase/nuclease 2 | Vaak (30–79%) | In 1 aandoening |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Vaak (30–79%) | In 1 aandoening |
| DUSP6dual specificity phosphatase 6 | Vaak (30–79%) | In 2 aandoeningen |
| ELNelastin | Vaak (30–79%) | In 3 aandoeningen |
| EMILIN1elastin microfibril interfacer 1 | Vaak (30–79%) | In 1 aandoening |
| EMX2empty spiracles homeobox 2 | Vaak (30–79%) | In 1 aandoening |
| FAT4FAT atypical cadherin 4 | Vaak (30–79%) | In 2 aandoeningen |
| FGF17fibroblast growth factor 17 | Vaak (30–79%) | In 2 aandoeningen |
| FGF8fibroblast growth factor 8 | Vaak (30–79%) | In 1 aandoening |
| FGFR1fibroblast growth factor receptor 1 | Vaak (30–79%) | In 3 aandoeningen |
| FIGLAfolliculogenesis specific bHLH transcription factor | Vaak (30–79%) | In 1 aandoening |
| FKBP14FKBP prolyl isomerase 14 | Vaak (30–79%) | In 2 aandoeningen |
| FOXA2forkhead box A2 | Vaak (30–79%) | In 1 aandoening |
| FSHRfollicle stimulating hormone receptor | Vaak (30–79%) | In 1 aandoening |
| FUT8fucosyltransferase 8 | Vaak (30–79%) | In 1 aandoening |
| GEMIN4gem nuclear organelle associated protein 4 | Vaak (30–79%) | In 1 aandoening |
| GLI2GLI family zinc finger 2 | Vaak (30–79%) | In 1 aandoening |
| GNRH1gonadotropin releasing hormone 1 | Vaak (30–79%) | In 1 aandoening |
| GNRHRgonadotropin releasing hormone receptor | Vaak (30–79%) | In 1 aandoening |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Vaak (30–79%) | In 1 aandoening |
| HESX1HESX homeobox 1 | Vaak (30–79%) | In 1 aandoening |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Vaak (30–79%) | In 2 aandoeningen |
| KISS1KiSS-1 metastasis suppressor | Vaak (30–79%) | In 1 aandoening |
| KISS1RKISS1 receptor | Vaak (30–79%) | In 2 aandoeningen |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Vaak (30–79%) | In 2 aandoeningen |
| LHX4LIM homeobox 4 | Vaak (30–79%) | In 1 aandoening |
| LIFRLIF receptor subunit alpha | Vaak (30–79%) | In 1 aandoening |
| LRP5LDL receptor related protein 5 | Vaak (30–79%) | In 3 aandoeningen |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Vaak (30–79%) | In 1 aandoening |
| MIA3MIA SH3 domain ER export factor 3 | Vaak (30–79%) | In 1 aandoening |
| MLXIPLMLX interacting protein like | Vaak (30–79%) | In 1 aandoening |
| MRPS22mitochondrial ribosomal protein S22 | Vaak (30–79%) | In 1 aandoening |
| MSH4mutS homolog 4 | Vaak (30–79%) | In 1 aandoening |
| MTX2metaxin 2 | Vaak (30–79%) | In 1 aandoening |
| NHLH2nescient helix-loop-helix 2 | Vaak (30–79%) | In 1 aandoening |
| NR5A1nuclear receptor subfamily 5 group A member 1 | Vaak (30–79%) | In 1 aandoening |
| NSMFNMDA receptor synaptonuclear signaling and neuronal migration factor | Vaak (30–79%) | In 1 aandoening |
| NUP107nucleoporin 107 | Vaak (30–79%) | In 1 aandoening |
| OTX2orthodenticle homeobox 2 | Vaak (30–79%) | In 1 aandoening |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Vaak (30–79%) | In 2 aandoeningen |
| PMM2phosphomannomutase 2 | Vaak (30–79%) | In 2 aandoeningen |
| POLR3ARNA polymerase III subunit A | Vaak (30–79%) | In 1 aandoening |
| POLR3HRNA polymerase III subunit H | Vaak (30–79%) | In 1 aandoening |
| POU1F1POU class 1 homeobox 1 | Vaak (30–79%) | In 1 aandoening |
| PPIBpeptidylprolyl isomerase B | Vaak (30–79%) | In 1 aandoening |
| PROK2prokineticin 2 | Vaak (30–79%) | In 1 aandoening |
| PROKR2prokineticin receptor 2 | Vaak (30–79%) | In 1 aandoening |
| PROP1PROP paired-like homeobox 1 | Vaak (30–79%) | In 2 aandoeningen |
| PSAPprosaposin | Vaak (30–79%) | In 2 aandoeningen |
| PSMC3IPPSMC3 interacting protein | Vaak (30–79%) | In 1 aandoening |
| PTH1Rparathyroid hormone 1 receptor | Vaak (30–79%) | In 2 aandoeningen |
| PYGLglycogen phosphorylase L | Vaak (30–79%) | In 1 aandoening |
| SATB2SATB homeobox 2 | Vaak (30–79%) | In 2 aandoeningen |
| SLC10A1solute carrier family 10 member 1 | Vaak (30–79%) | In 1 aandoening |
| SLC39A13solute carrier family 39 member 13 | Vaak (30–79%) | In 2 aandoeningen |
| SLC39A8solute carrier family 39 member 8 | Vaak (30–79%) | In 2 aandoeningen |
| SLC7A7solute carrier family 7 member 7 | Vaak (30–79%) | In 1 aandoening |
| SMAD3SMAD family member 3 | Vaak (30–79%) | In 1 aandoening |
| SMARCD2SWI/SNF related BAF chromatin remodeling complex subunit D2 | Vaak (30–79%) | In 1 aandoening |
| SMPD1sphingomyelin phosphodiesterase 1 | Vaak (30–79%) | In 2 aandoeningen |
| SPIDRscaffold protein involved in DNA repair | Vaak (30–79%) | In 1 aandoening |
| SPRY4sprouty RTK signaling antagonist 4 | Vaak (30–79%) | In 2 aandoeningen |
| STAT1signal transducer and activator of transcription 1 | Vaak (30–79%) | In 2 aandoeningen |
| STAT3signal transducer and activator of transcription 3 | Vaak (30–79%) | In 2 aandoeningen |
| TAC3tachykinin precursor 3 | Vaak (30–79%) | In 1 aandoening |
| TACR3tachykinin receptor 3 | Vaak (30–79%) | In 1 aandoening |
| TAF1TATA-box binding protein associated factor 1 | Vaak (30–79%) | In 1 aandoening |
| TINF2TERF1 interacting nuclear factor 2 | Vaak (30–79%) | In 1 aandoening |
| TNNC2troponin C2, fast skeletal type | Vaak (30–79%) | In 1 aandoening |
| TRPV6transient receptor potential cation channel subfamily V member 6 | Vaak (30–79%) | In 1 aandoening |
| WDR11WD repeat domain 11 | Vaak (30–79%) | In 1 aandoening |
| ZNF668zinc finger protein 668 | Vaak (30–79%) | In 1 aandoening |
| ZSWIM7zinc finger SWIM-type containing 7 | Vaak (30–79%) | In 1 aandoening |
| AARS1alanyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Soms (5–29%) | In 2 aandoeningen |
| ADAMTSL2ADAMTS like 2 | Soms (5–29%) | In 2 aandoeningen |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Soms (5–29%) | In 1 aandoening |
| ATP8B1ATPase phospholipid transporting 8B1 | Soms (5–29%) | In 1 aandoening |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Soms (5–29%) | In 1 aandoening |
| BMP2bone morphogenetic protein 2 | Soms (5–29%) | In 1 aandoening |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Soms (5–29%) | In 2 aandoeningen |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Soms (5–29%) | In 1 aandoening |
| CARS1cysteinyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| CBFBcore-binding factor subunit beta | Soms (5–29%) | In 1 aandoening |
| CBLCbl proto-oncogene | Soms (5–29%) | In 1 aandoening |
| CEACAM3CEA cell adhesion molecule 3 | Soms (5–29%) | In 1 aandoening |
| CEACAM6CEA cell adhesion molecule 6 | Soms (5–29%) | In 1 aandoening |
| CFTRCF transmembrane conductance regulator | Soms (5–29%) | In 1 aandoening |
| CLCA4chloride channel accessory 4 | Soms (5–29%) | In 1 aandoening |
| CLIP2CAP-Gly domain containing linker protein 2 | Soms (5–29%) | In 1 aandoening |
| CLPBClpB family mitochondrial disaggregase | Soms (5–29%) | In 1 aandoening |
| COL1A2collagen type I alpha 2 chain | Soms (5–29%) | In 1 aandoening |
| COL7A1collagen type VII alpha 1 chain | Soms (5–29%) | In 1 aandoening |
| CTCFCCCTC-binding factor | Soms (5–29%) | In 2 aandoeningen |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Soms (5–29%) | In 1 aandoening |
| DBR1debranching RNA lariats 1 | Soms (5–29%) | In 1 aandoening |
| DCTN4dynactin subunit 4 | Soms (5–29%) | In 1 aandoening |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Soms (5–29%) | In 1 aandoening |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Soms (5–29%) | In 1 aandoening |
| EDNRAendothelin receptor type A | Soms (5–29%) | In 1 aandoening |
| EFL1elongation factor like GTPase 1 | Soms (5–29%) | In 1 aandoening |
| EIF4Heukaryotic translation initiation factor 4H | Soms (5–29%) | In 1 aandoening |
| ELANEelastase, neutrophil expressed | Soms (5–29%) | In 1 aandoening |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Soms (5–29%) | In 1 aandoening |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Soms (5–29%) | In 1 aandoening |
| FBN1fibrillin 1 | Soms (5–29%) | In 1 aandoening |
| FBXO11F-box protein 11 | Soms (5–29%) | In 1 aandoening |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Soms (5–29%) | In 1 aandoening |
| GATA1GATA binding protein 1 | Soms (5–29%) | In 1 aandoening |
| GCLCglutamate-cysteine ligase catalytic subunit | Soms (5–29%) | In 1 aandoening |
| GFI1growth factor independent 1 transcriptional repressor | Soms (5–29%) | In 1 aandoening |
| GLIS3GLIS family zinc finger 3 | Soms (5–29%) | In 1 aandoening |
| GPR35G protein-coupled receptor 35 | Soms (5–29%) | In 1 aandoening |
| GSTM3glutathione S-transferase mu 3 | Soms (5–29%) | In 1 aandoening |
| GTF2E2general transcription factor IIE subunit 2 | Soms (5–29%) | In 1 aandoening |
| GTF2H5general transcription factor IIH subunit 5 | Soms (5–29%) | In 1 aandoening |
| GTF2Igeneral transcription factor IIi | Soms (5–29%) | In 1 aandoening |
| GTF2IRD1GTF2I repeat domain containing 1 | Soms (5–29%) | In 1 aandoening |
| GTF2IRD2GTF2I repeat domain containing 2 | Soms (5–29%) | In 1 aandoening |
| HBBhemoglobin subunit beta | Soms (5–29%) | In 1 aandoening |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Soms (5–29%) | In 1 aandoening |
| HFEhomeostatic iron regulator | Soms (5–29%) | In 1 aandoening |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Soms (5–29%) | In 1 aandoening |
| HMOX1heme oxygenase 1 | Soms (5–29%) | In 1 aandoening |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Soms (5–29%) | In 2 aandoeningen |
| IER3IP1immediate early response 3 interacting protein 1 | Soms (5–29%) | In 1 aandoening |
| IFT54intraflagellar transport 54 | Soms (5–29%) | In 1 aandoening |
| IFT56intraflagellar transport 56 | Soms (5–29%) | In 1 aandoening |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Soms (5–29%) | In 1 aandoening |
| IL17RDinterleukin 17 receptor D | Soms (5–29%) | In 1 aandoening |
| IL6interleukin 6 | Soms (5–29%) | In 1 aandoening |
| KCNN4potassium calcium-activated channel subfamily N member 4 | Soms (5–29%) | In 1 aandoening |
| KRASKRas proto-oncogene, GTPase | Soms (5–29%) | In 3 aandoeningen |
| LACC1laccase domain multifunctional purine nucleosidase 1 | Soms (5–29%) | In 1 aandoening |
| LIMK1LIM domain kinase 1 | Soms (5–29%) | In 1 aandoening |
| LTBP4latent transforming growth factor beta binding protein 4 | Soms (5–29%) | In 1 aandoening |
| LZTR1leucine zipper like post translational regulator 1 | Soms (5–29%) | In 1 aandoening |
| MAGEL2MAGE family member L2 | Soms (5–29%) | In 5 aandoeningen |
| MAN2B1mannosidase alpha class 2B member 1 | Soms (5–29%) | In 2 aandoeningen |
| MDM4MDM4 regulator of p53 | Soms (5–29%) | In 1 aandoening |
| METTL27methyltransferase like 27 | Soms (5–29%) | In 1 aandoening |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Soms (5–29%) | In 2 aandoeningen |
| MIFmacrophage migration inhibitory factor | Soms (5–29%) | In 2 aandoeningen |
| MKRN3makorin ring finger protein 3 | Soms (5–29%) | In 1 aandoening |
| MMP1matrix metallopeptidase 1 | Soms (5–29%) | In 1 aandoening |
| MPLKIPM-phase specific PLK1 interacting protein | Soms (5–29%) | In 1 aandoening |
| MRASmuscle RAS oncogene homolog | Soms (5–29%) | In 1 aandoening |
| MST1macrophage stimulating 1 | Soms (5–29%) | In 1 aandoening |
| MTTPmicrosomal triglyceride transfer protein | Soms (5–29%) | In 1 aandoening |
| NAA20N-alpha-acetyltransferase 20, NatB catalytic subunit | Soms (5–29%) | In 1 aandoening |
| NAF1nuclear assembly factor 1 ribonucleoprotein | Soms (5–29%) | In 1 aandoening |
| NCF1neutrophil cytosolic factor 1 | Soms (5–29%) | In 1 aandoening |
| NDNnecdin, MAGE family member | Soms (5–29%) | In 3 aandoeningen |
| NF1neurofibromin 1 | Soms (5–29%) | In 1 aandoening |
| NFKBIANFKB inhibitor alpha | Soms (5–29%) | In 1 aandoening |
| NPAP1nuclear pore associated protein 1 | Soms (5–29%) | In 1 aandoening |
| NRASNRAS proto-oncogene, GTPase | Soms (5–29%) | In 2 aandoeningen |
| OCA2OCA2 melanosomal transmembrane protein | Soms (5–29%) | In 3 aandoeningen |
| POC1APOC1 centriolar protein A | Soms (5–29%) | In 1 aandoening |
| POLEDNA polymerase epsilon, catalytic subunit | Soms (5–29%) | In 1 aandoening |
| PRLRprolactin receptor | Soms (5–29%) | In 1 aandoening |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Soms (5–29%) | In 1 aandoening |
| PWAR1Prader Willi/Angelman region RNA 1 | Soms (5–29%) | In 1 aandoening |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Soms (5–29%) | In 1 aandoening |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Soms (5–29%) | In 1 aandoening |
| RASA2RAS p21 protein activator 2 | Soms (5–29%) | In 1 aandoening |
| RECQL4RecQ like helicase 4 | Soms (5–29%) | In 1 aandoening |
| RFC2replication factor C subunit 2 | Soms (5–29%) | In 1 aandoening |
| RIGIRNA sensor RIG-I | Soms (5–29%) | In 1 aandoening |
| RIT1Ras like without CAAX 1 | Soms (5–29%) | In 1 aandoening |
| RNF113Aring finger protein 113A | Soms (5–29%) | In 1 aandoening |
| RNF125ring finger protein 125 | Soms (5–29%) | In 1 aandoening |
| RNU5B-1RNA, U5B small nuclear 1 | Soms (5–29%) | In 1 aandoening |
| RRASRAS related | Soms (5–29%) | In 1 aandoening |
| RRAS2RAS related 2 | Soms (5–29%) | In 1 aandoening |
| SBDSSBDS ribosome maturation factor | Soms (5–29%) | In 1 aandoening |
| SEC23ASEC23 homolog A, COPII component | Soms (5–29%) | In 1 aandoening |
| SEMA4Dsemaphorin 4D | Soms (5–29%) | In 1 aandoening |
| SERPINA1serpin family A member 1 | Soms (5–29%) | In 1 aandoening |
| SIM1SIM bHLH transcription factor 1 | Soms (5–29%) | In 1 aandoening |
| SKISKI proto-oncogene | Soms (5–29%) | In 2 aandoeningen |
| SLC11A1solute carrier family 11 member 1 | Soms (5–29%) | In 1 aandoening |
| SLC26A9solute carrier family 26 member 9 | Soms (5–29%) | In 1 aandoening |
| SLC2A2solute carrier family 2 member 2 | Soms (5–29%) | In 1 aandoening |
| SLC37A4solute carrier family 37 member 4 | Soms (5–29%) | In 1 aandoening |
| SLC6A14solute carrier family 6 member 14 | Soms (5–29%) | In 1 aandoening |
| SLC9A3solute carrier family 9 member A3 | Soms (5–29%) | In 1 aandoening |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Soms (5–29%) | In 1 aandoening |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Soms (5–29%) | In 1 aandoening |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Soms (5–29%) | In 3 aandoeningen |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Soms (5–29%) | In 1 aandoening |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Soms (5–29%) | In 1 aandoening |
| SOX3SRY-box transcription factor 3 | Soms (5–29%) | In 1 aandoening |
| SPRED2sprouty related EVH1 domain containing 2 | Soms (5–29%) | In 1 aandoening |
| SRP19signal recognition particle 19 | Soms (5–29%) | In 1 aandoening |
| STX1Asyntaxin 1A | Soms (5–29%) | In 2 aandoeningen |
| TARS1threonyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| TBL2transducin beta like 2 | Soms (5–29%) | In 1 aandoening |
| TCF12transcription factor 12 | Soms (5–29%) | In 1 aandoening |
| TCF4transcription factor 4 | Soms (5–29%) | In 1 aandoening |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Soms (5–29%) | In 1 aandoening |
| TERTtelomerase reverse transcriptase | Soms (5–29%) | In 1 aandoening |
| TGFB1transforming growth factor beta 1 | Soms (5–29%) | In 1 aandoening |
| TMEM270transmembrane protein 270 | Soms (5–29%) | In 1 aandoening |
| URODuroporphyrinogen decarboxylase | Soms (5–29%) | In 1 aandoening |
| UROSuroporphyrinogen III synthase | Soms (5–29%) | In 2 aandoeningen |
| USP9Xubiquitin specific peptidase 9 X-linked | Soms (5–29%) | In 1 aandoening |
| VIPAS39VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog | Soms (5–29%) | In 1 aandoening |
| VPS33BVPS33B late endosome and lysosome associated | Soms (5–29%) | In 1 aandoening |
| VPS37DVPS37D subunit of ESCRT-I | Soms (5–29%) | In 1 aandoening |
| ZFXzinc finger protein X-linked | Soms (5–29%) | In 1 aandoening |
| ZNF699zinc finger protein 699 | Soms (5–29%) | In 1 aandoening |
| ANAPC1anaphase promoting complex subunit 1 | Zelden (1–4%) | In 1 aandoening |
| FBLN5fibulin 5 | Zelden (1–4%) | In 1 aandoening |
| SLC35A2solute carrier family 35 member A2 | Zelden (1–4%) | In 1 aandoening |
| AVParginine vasopressin | Niet vastgelegd | In 1 aandoening |
| CAVIN1caveolae associated protein 1 | Niet vastgelegd | In 1 aandoening |
| CREB3L1cAMP responsive element binding protein 3 like 1 | Niet vastgelegd | In 1 aandoening |
| CRTAPcartilage associated protein | Niet vastgelegd | In 1 aandoening |
| CTC1CST telomere replication complex component 1 | Niet vastgelegd | In 1 aandoening |
| CYP3A4cytochrome P450 family 3 subfamily A member 4 | Niet vastgelegd | In 1 aandoening |
| EEDembryonic ectoderm development | Niet vastgelegd | In 1 aandoening |
| FBN2fibrillin 2 | Niet vastgelegd | In 1 aandoening |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Niet vastgelegd | In 1 aandoening |
| GNASGNAS complex locus | Niet vastgelegd | In 1 aandoening |
| GNPATglyceronephosphate O-acyltransferase | Niet vastgelegd | In 1 aandoening |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Niet vastgelegd | In 1 aandoening |
| HPGD15-hydroxyprostaglandin dehydrogenase | Niet vastgelegd | In 1 aandoening |
| HRASHRas proto-oncogene, GTPase | Niet vastgelegd | In 1 aandoening |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Niet vastgelegd | In 1 aandoening |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Niet vastgelegd | In 1 aandoening |
| KCNJ1potassium inwardly rectifying channel subfamily J member 1 | Niet vastgelegd | In 1 aandoening |
| MAFBMAF bZIP transcription factor B | Niet vastgelegd | In 1 aandoening |
| MAP2K1mitogen-activated protein kinase kinase 1 | Niet vastgelegd | In 1 aandoening |
| MAP2K2mitogen-activated protein kinase kinase 2 | Niet vastgelegd | In 1 aandoening |
| MTAPmethylthioadenosine phosphorylase | Niet vastgelegd | In 1 aandoening |
| NAGAalpha-N-acetylgalactosaminidase | Niet vastgelegd | In 1 aandoening |
| NHERF1NHERF family PDZ scaffold protein 1 | Niet vastgelegd | In 1 aandoening |
| PDE11Aphosphodiesterase 11A | Niet vastgelegd | In 1 aandoening |
| PLOD2procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 | Niet vastgelegd | In 1 aandoening |
| PRKACAprotein kinase cAMP-activated catalytic subunit alpha | Niet vastgelegd | In 1 aandoening |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Niet vastgelegd | In 1 aandoening |
| RPL11ribosomal protein L11 | Niet vastgelegd | In 1 aandoening |
| SGMS2sphingomyelin synthase 2 | Niet vastgelegd | In 1 aandoening |
| SH3PXD2BSH3 and PX domains 2B | Niet vastgelegd | In 1 aandoening |
| SLC12A1solute carrier family 12 member 1 | Niet vastgelegd | In 1 aandoening |
| SLC17A5solute carrier family 17 member 5 | Niet vastgelegd | In 1 aandoening |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Niet vastgelegd | In 1 aandoening |
| TAPT1transmembrane anterior posterior transformation 1 | Niet vastgelegd | In 1 aandoening |
| TGFB2transforming growth factor beta 2 | Niet vastgelegd | In 1 aandoening |
| TONSLtonsoku like, DNA repair protein | Niet vastgelegd | In 1 aandoening |
| TREM2triggering receptor expressed on myeloid cells 2 | Niet vastgelegd | In 1 aandoening |
| TRPS1transcriptional repressor GATA binding 1 | Niet vastgelegd | In 2 aandoeningen |
| UNC80unc-80 subunit of NALCN channel complex | Niet vastgelegd | In 1 aandoening |
| XYLT2xylosyltransferase 2 | Niet vastgelegd | In 1 aandoening |
Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.
Bredere kenmerken
Waar dit vandaan komt
- De Human Phenotype Ontology, release 2026-09-01: het kenmerk, de namen, de definitie en de genen die ermee verbonden zijn. Meer informatie vindt u op hpo.jax.org.
- Gegevensrelease 2026.10.16-c6eea6bf.
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