Træk
Flexed joint that cannot be straightened
Klinisk navn: Flexion contracture
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
Resumé
- Også kaldet
- Flexion contractures, Flexion contractures of joints
- Kropssystem
- Abnormality of the musculoskeletal system
ReferencegenomGRCh38hg38
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Bestil min Genome Test341 gener knyttet til Flexed joint that cannot be straightened
Ændringer i disse gener forårsager sjældne tilstande, hvor Flexed joint that cannot be straightened 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 |
|---|---|---|
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Altid | I 1 tilstand |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Altid | I 1 tilstand |
| ARSBarylsulfatase B | Altid | I 1 tilstand |
| ATP11AATPase phospholipid transporting 11A | Altid | I 1 tilstand |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Altid | I 1 tilstand |
| BANF1barrier to autointegration nuclear assembly factor 1 | Altid | I 1 tilstand |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Altid | I 1 tilstand |
| CHRNB1cholinergic receptor nicotinic beta 1 subunit | Altid | I 1 tilstand |
| CLDN11claudin 11 | Altid | I 1 tilstand |
| COL12A1collagen type XII alpha 1 chain | Altid | I 5 tilstande |
| COL25A1collagen type XXV alpha 1 chain | Altid | I 1 tilstand |
| DNM2dynamin 2 | Altid | I 2 tilstande |
| DSTdystonin | Altid | I 1 tilstand |
| ECE1endothelin converting enzyme 1 | Altid | I 1 tilstand |
| ERGIC1endoplasmic reticulum-golgi intermediate compartment 1 | Altid | I 1 tilstand |
| FANCCFA complementation group C | Altid | I 1 tilstand |
| FHL1four and a half LIM domains 1 | Altid | I 2 tilstande |
| FLNAfilamin A | Altid | I 2 tilstande |
| FUCA1alpha-L-fucosidase 1 | Altid | I 1 tilstand |
| GOLGA2golgin A2 | Altid | I 1 tilstand |
| KCNK3potassium two pore domain channel subfamily K member 3 | Altid | I 1 tilstand |
| KYkyphoscoliosis peptidase | Altid | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Altid | I 1 tilstand |
| MYBPC1myosin binding protein C1 | Altid | I 2 tilstande |
| MYH3myosin heavy chain 3 | Altid | I 1 tilstand |
| PHACTR1phosphatase and actin regulator 1 | Altid | I 1 tilstand |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Altid | I 2 tilstande |
| PSMB8proteasome 20S subunit beta 8 | Altid | I 1 tilstand |
| PSMG2proteasome assembly chaperone 2 | Altid | I 1 tilstand |
| PTF1Apancreas associated transcription factor 1a | Altid | I 1 tilstand |
| PYCR1pyrroline-5-carboxylate reductase 1 | Altid | I 1 tilstand |
| RAPSNreceptor associated protein of the synapse | Altid | I 1 tilstand |
| RIPK4receptor interacting serine/threonine kinase 4 | Altid | I 1 tilstand |
| RNF13ring finger protein 13 | Altid | I 2 tilstande |
| RNU6ATACRNA, U6atac small nuclear | Altid | I 1 tilstand |
| SCYL2SCY1 like pseudokinase 2 | Altid | I 1 tilstand |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Altid | I 1 tilstand |
| SEC31ASEC31 homolog A, COPII component | Altid | I 1 tilstand |
| SHPKsedoheptulokinase | Altid | I 1 tilstand |
| TAF4TATA-box binding protein associated factor 4 | Altid | I 1 tilstand |
Vis 301 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| TMEM63Btransmembrane protein 63B | Altid | I 1 tilstand |
| TOP2BDNA topoisomerase II beta | Altid | I 1 tilstand |
| TOR1Atorsin family 1 member A | Altid | I 1 tilstand |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Altid | I 2 tilstande |
| VPS11VPS11 core subunit of CORVET and HOPS complexes | Altid | I 1 tilstand |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Altid | I 2 tilstande |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Altid | I 1 tilstand |
| ZMPSTE24zinc metallopeptidase STE24 | Altid | I 2 tilstande |
| ZPR1ZPR1 zinc finger | Altid | I 1 tilstand |
| ANTXR2ANTXR cell adhesion molecule 2 | Meget ofte (80–99 %) | I 1 tilstand |
| ASAH1N-acylsphingosine amidohydrolase 1 | Meget ofte (80–99 %) | I 2 tilstande |
| ASXL1ASXL transcriptional regulator 1 | Meget ofte (80–99 %) | I 1 tilstand |
| B4GALT7beta-1,4-galactosyltransferase 7 | Meget ofte (80–99 %) | I 2 tilstande |
| CHST3carbohydrate sulfotransferase 3 | Meget ofte (80–99 %) | I 2 tilstande |
| CLCF1cardiotrophin like cytokine factor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| COL6A1collagen type VI alpha 1 chain | Meget ofte (80–99 %) | I 3 tilstande |
| COL6A2collagen type VI alpha 2 chain | Meget ofte (80–99 %) | I 2 tilstande |
| COL6A3collagen type VI alpha 3 chain | Meget ofte (80–99 %) | I 2 tilstande |
| COL7A1collagen type VII alpha 1 chain | Meget ofte (80–99 %) | I 3 tilstande |
| CRLF1cytokine receptor like factor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| DMDdystrophin | Meget ofte (80–99 %) | I 2 tilstande |
| ERLIN2ER lipid raft associated 2 | Meget ofte (80–99 %) | I 1 tilstand |
| FBN1fibrillin 1 | Meget ofte (80–99 %) | I 2 tilstande |
| FBN2fibrillin 2 | Meget ofte (80–99 %) | I 1 tilstand |
| FKTNfukutin | Meget ofte (80–99 %) | I 3 tilstande |
| GUSBglucuronidase beta | Meget ofte (80–99 %) | I 1 tilstand |
| KLHL40kelch like family member 40 | Meget ofte (80–99 %) | I 2 tilstande |
| LTBP4latent transforming growth factor beta binding protein 4 | Meget ofte (80–99 %) | I 1 tilstand |
| MAGEL2MAGE family member L2 | Meget ofte (80–99 %) | I 2 tilstande |
| MMP1matrix metallopeptidase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| ZBTB20zinc finger and BTB domain containing 20 | Meget ofte (80–99 %) | I 2 tilstande |
| ACTA1actin alpha 1, skeletal muscle | Ofte (30–79 %) | I 5 tilstande |
| ADGRG1adhesion G protein-coupled receptor G1 | Ofte (30–79 %) | I 1 tilstand |
| AIMP2aminoacyl tRNA synthetase complex interacting multifunctional protein 2 | Ofte (30–79 %) | I 1 tilstand |
| BIN1bridging integrator 1 | Ofte (30–79 %) | I 1 tilstand |
| CAPN3calpain 3 | Ofte (30–79 %) | I 2 tilstande |
| CAV1caveolin 1 | Ofte (30–79 %) | I 1 tilstand |
| CAVIN1caveolae associated protein 1 | Ofte (30–79 %) | I 1 tilstand |
| CCN2cellular communication network factor 2 | Ofte (30–79 %) | I 1 tilstand |
| CCR6C-C motif chemokine receptor 6 | Ofte (30–79 %) | I 1 tilstand |
| CHRNGcholinergic receptor nicotinic gamma subunit | Ofte (30–79 %) | I 2 tilstande |
| DCXdoublecortin | Ofte (30–79 %) | I 1 tilstand |
| DLK1delta like non-canonical Notch ligand 1 | Ofte (30–79 %) | I 2 tilstande |
| ELNelastin | Ofte (30–79 %) | I 1 tilstand |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Ofte (30–79 %) | I 3 tilstande |
| EXOC2exocyst complex component 2 | Ofte (30–79 %) | I 1 tilstand |
| EXOC8exocyst complex component 8 | Ofte (30–79 %) | I 1 tilstand |
| FITM2fat storage inducing transmembrane protein 2 | Ofte (30–79 %) | I 1 tilstand |
| FOXP1forkhead box P1 | Ofte (30–79 %) | I 1 tilstand |
| GAD1glutamate decarboxylase 1 | Ofte (30–79 %) | I 1 tilstand |
| GBA1glucosylceramidase beta 1 | Ofte (30–79 %) | I 2 tilstande |
| GBE11,4-alpha-glucan branching enzyme 1 | Ofte (30–79 %) | I 1 tilstand |
| GDAP1ganglioside induced differentiation associated protein 1 | Ofte (30–79 %) | I 2 tilstande |
| GLULglutamate-ammonia ligase | Ofte (30–79 %) | I 1 tilstand |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Ofte (30–79 %) | I 1 tilstand |
| H3-3AH3.3 histone A | Ofte (30–79 %) | I 1 tilstand |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Ofte (30–79 %) | I 1 tilstand |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Ofte (30–79 %) | I 1 tilstand |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | Ofte (30–79 %) | I 1 tilstand |
| IDSiduronate 2-sulfatase | Ofte (30–79 %) | I 1 tilstand |
| IRF5interferon regulatory factor 5 | Ofte (30–79 %) | I 1 tilstand |
| ITGA7integrin subunit alpha 7 | Ofte (30–79 %) | I 1 tilstand |
| KCNJ6potassium inwardly rectifying channel subfamily J member 6 | Ofte (30–79 %) | I 2 tilstande |
| KIAA0753KIAA0753 | Ofte (30–79 %) | I 1 tilstand |
| KLHL41kelch like family member 41 | Ofte (30–79 %) | I 4 tilstande |
| KRT1keratin 1 | Ofte (30–79 %) | I 1 tilstand |
| LAMA2laminin subunit alpha 2 | Ofte (30–79 %) | I 2 tilstande |
| LIFRLIF receptor subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| LMNAlamin A/C | Ofte (30–79 %) | I 3 tilstande |
| LMOD3leiomodin 3 | Ofte (30–79 %) | I 3 tilstande |
| LMX1BLIM homeobox transcription factor 1 beta | Ofte (30–79 %) | I 1 tilstand |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Ofte (30–79 %) | I 1 tilstand |
| MEG3maternally expressed 3 | Ofte (30–79 %) | I 2 tilstande |
| MLXIPLMLX interacting protein like | Ofte (30–79 %) | I 1 tilstand |
| MTX2metaxin 2 | Ofte (30–79 %) | I 1 tilstand |
| MYL2myosin light chain 2 | Ofte (30–79 %) | I 1 tilstand |
| NALCNsodium leak channel, non-selective | Ofte (30–79 %) | I 1 tilstand |
| NEBnebulin | Ofte (30–79 %) | I 5 tilstande |
| NSRP1nuclear speckle splicing regulatory protein 1 | Ofte (30–79 %) | I 1 tilstand |
| PI4KAphosphatidylinositol 4-kinase alpha | Ofte (30–79 %) | I 1 tilstand |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Ofte (30–79 %) | I 1 tilstand |
| RTL1retrotransposon Gag like 1 | Ofte (30–79 %) | I 2 tilstande |
| RTTNrotatin | Ofte (30–79 %) | I 1 tilstand |
| SELENONselenoprotein N | Ofte (30–79 %) | I 2 tilstande |
| SLC26A2solute carrier family 26 member 2 | Ofte (30–79 %) | I 1 tilstand |
| SLURP1secreted LY6/PLAUR domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Ofte (30–79 %) | I 1 tilstand |
| SNAPINSNAP associated protein | Ofte (30–79 %) | I 1 tilstand |
| SRPX2sushi repeat containing protein X-linked 2 | Ofte (30–79 %) | I 1 tilstand |
| TMEM70transmembrane protein 70 | Ofte (30–79 %) | I 1 tilstand |
| TPM2tropomyosin 2 | Ofte (30–79 %) | I 3 tilstande |
| TPM3tropomyosin 3 | Ofte (30–79 %) | I 4 tilstande |
| VWA1von Willebrand factor A domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| ZNHIT3zinc finger HIT-type containing 3 | Ofte (30–79 %) | I 1 tilstand |
| ADGRG6adhesion G protein-coupled receptor G6 | Nogle gange (5–29 %) | I 1 tilstand |
| AHSGalpha 2-HS glycoprotein | Nogle gange (5–29 %) | I 1 tilstand |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Nogle gange (5–29 %) | I 1 tilstand |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| ANKRD55ankyrin repeat domain 55 | Nogle gange (5–29 %) | I 1 tilstand |
| ANO5anoctamin 5 | Nogle gange (5–29 %) | I 1 tilstand |
| APC2APC regulator of Wnt signaling pathway 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ATMATM serine/threonine kinase | Nogle gange (5–29 %) | I 1 tilstand |
| ATRXATRX chromatin remodeler | Nogle gange (5–29 %) | I 1 tilstand |
| BCORBCL6 corepressor | Nogle gange (5–29 %) | I 1 tilstand |
| BICD2BICD cargo adaptor 2 | Nogle gange (5–29 %) | I 2 tilstande |
| BMPR1Abone morphogenetic protein receptor type 1A | Nogle gange (5–29 %) | I 1 tilstand |
| BRCA2BRCA2 DNA repair associated | Nogle gange (5–29 %) | I 1 tilstand |
| CARS1cysteinyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CD247CD247 molecule | Nogle gange (5–29 %) | I 1 tilstand |
| CDC42cell division cycle 42 | Nogle gange (5–29 %) | I 1 tilstand |
| CDONcell adhesion associated, oncogene regulated | Nogle gange (5–29 %) | I 4 tilstande |
| CFL2cofilin 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CHEK2checkpoint kinase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CLPBClpB family mitochondrial disaggregase | Nogle gange (5–29 %) | I 1 tilstand |
| CREBBPCREB binding lysine acetyltransferase | Nogle gange (5–29 %) | I 2 tilstande |
| CRIPTOcripto, EGF-CFC family member | Nogle gange (5–29 %) | I 4 tilstande |
| DISP1dispatched RND transporter family member 1 | Nogle gange (5–29 %) | I 4 tilstande |
| DLL1delta like canonical Notch ligand 1 | Nogle gange (5–29 %) | I 4 tilstande |
| DNAJB6DnaJ heat shock protein family (Hsp40) member B6 | Nogle gange (5–29 %) | I 1 tilstand |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Nogle gange (5–29 %) | I 3 tilstande |
| EBPEBP cholestenol delta-isomerase | Nogle gange (5–29 %) | I 1 tilstand |
| EPCAMepithelial cell adhesion molecule | Nogle gange (5–29 %) | I 1 tilstand |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Nogle gange (5–29 %) | I 2 tilstande |
| FERMT1FERM domain containing kindlin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FGF8fibroblast growth factor 8 | Nogle gange (5–29 %) | I 4 tilstande |
| FGFR1fibroblast growth factor receptor 1 | Nogle gange (5–29 %) | I 2 tilstande |
| FOXH1forkhead box H1 | Nogle gange (5–29 %) | I 4 tilstande |
| GAS1growth arrest specific 1 | Nogle gange (5–29 %) | I 4 tilstande |
| GFPT1glutamine--fructose-6-phosphate transaminase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GLDNgliomedin | Nogle gange (5–29 %) | I 1 tilstand |
| GLI2GLI family zinc finger 2 | Nogle gange (5–29 %) | I 4 tilstande |
| GMPPBGDP-mannose pyrophosphorylase B | Nogle gange (5–29 %) | I 1 tilstand |
| GNB2G protein subunit beta 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GPT2glutamic--pyruvic transaminase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GRID2glutamate ionotropic receptor delta type subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| HBA1hemoglobin subunit alpha 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HBA2hemoglobin subunit alpha 2 | Nogle gange (5–29 %) | I 1 tilstand |
| HINT1histidine triad nucleotide binding protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HSPG2heparan sulfate proteoglycan 2 | Nogle gange (5–29 %) | I 1 tilstand |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| IL2RAinterleukin 2 receptor subunit alpha | Nogle gange (5–29 %) | I 1 tilstand |
| IL2RBinterleukin 2 receptor subunit beta | Nogle gange (5–29 %) | I 1 tilstand |
| ITGB4integrin subunit beta 4 | Nogle gange (5–29 %) | I 1 tilstand |
| ITGB6integrin subunit beta 6 | Nogle gange (5–29 %) | I 1 tilstand |
| KBTBD13kelch repeat and BTB domain containing 13 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Nogle gange (5–29 %) | I 1 tilstand |
| KDM5Clysine demethylase 5C | Nogle gange (5–29 %) | I 1 tilstand |
| KIF1Akinesin family member 1A | Nogle gange (5–29 %) | I 1 tilstand |
| KRASKRas proto-oncogene, GTPase | Nogle gange (5–29 %) | I 1 tilstand |
| LMNB1lamin B1 | Nogle gange (5–29 %) | I 1 tilstand |
| LONP1lon peptidase 1, mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| LPIN2lipin 2 | Nogle gange (5–29 %) | I 2 tilstande |
| LSSlanosterol synthase | Nogle gange (5–29 %) | I 1 tilstand |
| MAN1B1mannosidase alpha class 1B member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MFN2mitofusin 2 | Nogle gange (5–29 %) | I 2 tilstande |
| MLH1mutL homolog 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MSH2mutS homolog 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MSH6mutS homolog 6 | Nogle gange (5–29 %) | I 1 tilstand |
| MUTYHmutY DNA glycosylase | Nogle gange (5–29 %) | I 1 tilstand |
| MYPNmyopalladin | Nogle gange (5–29 %) | I 1 tilstand |
| NACC1nucleus accumbens associated 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NODALnodal growth differentiation factor | Nogle gange (5–29 %) | I 4 tilstande |
| NPATnuclear protein, coactivator of histone transcription | Nogle gange (5–29 %) | I 1 tilstand |
| NPPAnatriuretic peptide A | Nogle gange (5–29 %) | I 1 tilstand |
| NSD1nuclear receptor binding SET domain protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Nogle gange (5–29 %) | I 1 tilstand |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Nogle gange (5–29 %) | I 1 tilstand |
| PLA2G6phospholipase A2 group VI | Nogle gange (5–29 %) | I 1 tilstand |
| PLCH1phospholipase C eta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PLECplectin | Nogle gange (5–29 %) | I 3 tilstande |
| PMS1PMS1 homolog 1, mismatch repair system component | Nogle gange (5–29 %) | I 1 tilstand |
| PMS2PMS1 homolog 2, mismatch repair system component | Nogle gange (5–29 %) | I 1 tilstand |
| POLD1DNA polymerase delta 1, catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| POLEDNA polymerase epsilon, catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| POLR3ARNA polymerase III subunit A | Nogle gange (5–29 %) | I 1 tilstand |
| PORcytochrome p450 oxidoreductase | Nogle gange (5–29 %) | I 2 tilstande |
| PTCH1patched 1 | Nogle gange (5–29 %) | I 4 tilstande |
| PTPN2protein tyrosine phosphatase non-receptor type 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Nogle gange (5–29 %) | I 1 tilstand |
| PYCR2pyrroline-5-carboxylate reductase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RPS20ribosomal protein S20 | Nogle gange (5–29 %) | I 1 tilstand |
| RYR1ryanodine receptor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Nogle gange (5–29 %) | I 2 tilstande |
| SCN5Asodium voltage-gated channel alpha subunit 5 | Nogle gange (5–29 %) | I 1 tilstand |
| SEMA4Asemaphorin 4A | Nogle gange (5–29 %) | I 1 tilstand |
| SHHsonic hedgehog signaling molecule | Nogle gange (5–29 %) | I 4 tilstande |
| SIX3SIX homeobox 3 | Nogle gange (5–29 %) | I 4 tilstande |
| SLC16A2solute carrier family 16 member 2 | Nogle gange (5–29 %) | I 2 tilstande |
| SLC39A13solute carrier family 39 member 13 | Nogle gange (5–29 %) | I 1 tilstand |
| SMC1Astructural maintenance of chromosomes 1A | Nogle gange (5–29 %) | I 1 tilstand |
| SONSON DNA and RNA binding protein | Nogle gange (5–29 %) | I 1 tilstand |
| STAG2STAG2 cohesin complex component | Nogle gange (5–29 %) | I 2 tilstande |
| STAT4signal transducer and activator of transcription 4 | Nogle gange (5–29 %) | I 1 tilstand |
| STILSTIL centriolar assembly protein | Nogle gange (5–29 %) | I 4 tilstande |
| STIM1stromal interaction molecule 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Nogle gange (5–29 %) | I 1 tilstand |
| TBC1D20TBC1 domain family member 20 | Nogle gange (5–29 %) | I 1 tilstand |
| TGFBR2transforming growth factor beta receptor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TGIF1TGFB induced factor homeobox 1 | Nogle gange (5–29 %) | I 4 tilstande |
| TGM1transglutaminase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| USP7ubiquitin specific peptidase 7 | Nogle gange (5–29 %) | I 1 tilstand |
| VMA21vacuolar ATPase assembly factor VMA21 | Nogle gange (5–29 %) | I 1 tilstand |
| ZEB2zinc finger E-box binding homeobox 2 | Nogle gange (5–29 %) | I 2 tilstande |
| ZIC2Zic family zinc finger 2 | Nogle gange (5–29 %) | I 4 tilstande |
| CNTNAP1contactin associated protein 1 | Sjældent (1–4%) | I 1 tilstand |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Sjældent (1–4%) | I 2 tilstande |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Sjældent (1–4%) | I 1 tilstand |
| NARS1asparaginyl-tRNA synthetase 1 | Sjældent (1–4%) | I 1 tilstand |
| TRAK1trafficking kinesin protein 1 | Sjældent (1–4%) | I 1 tilstand |
| ACADSacyl-CoA dehydrogenase short chain | Ikke registreret | I 1 tilstand |
| ADCY6adenylate cyclase 6 | Ikke registreret | I 1 tilstand |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Ikke registreret | I 1 tilstand |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Ikke registreret | I 1 tilstand |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Ikke registreret | I 1 tilstand |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Ikke registreret | I 1 tilstand |
| AP4B1adaptor related protein complex 4 subunit beta 1 | Ikke registreret | I 1 tilstand |
| AP4E1adaptor related protein complex 4 subunit epsilon 1 | Ikke registreret | I 1 tilstand |
| AP4S1adaptor related protein complex 4 subunit sigma 1 | Ikke registreret | I 1 tilstand |
| ARXaristaless related homeobox | Ikke registreret | I 1 tilstand |
| ASCC1activating signal cointegrator 1 complex subunit 1 | Ikke registreret | I 1 tilstand |
| ATAD1ATPase family AAA domain containing 1 | Ikke registreret | I 1 tilstand |
| B3GALT6beta-1,3-galactosyltransferase 6 | Ikke registreret | I 1 tilstand |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Ikke registreret | I 1 tilstand |
| CHRNA1cholinergic receptor nicotinic alpha 1 subunit | Ikke registreret | I 1 tilstand |
| CHRNDcholinergic receptor nicotinic delta subunit | Ikke registreret | I 1 tilstand |
| COL11A2collagen type XI alpha 2 chain | Ikke registreret | I 1 tilstand |
| COL2A1collagen type II alpha 1 chain | Ikke registreret | I 1 tilstand |
| COQ7coenzyme Q7, hydroxylase | Ikke registreret | I 1 tilstand |
| DEGS1delta 4-desaturase, sphingolipid 1 | Ikke registreret | I 1 tilstand |
| EEDembryonic ectoderm development | Ikke registreret | I 1 tilstand |
| EP300EP300 lysine acetyltransferase | Ikke registreret | I 1 tilstand |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Ikke registreret | I 1 tilstand |
| EXOSC3exosome component 3 | Ikke registreret | I 1 tilstand |
| EXOSC9exosome component 9 | Ikke registreret | I 1 tilstand |
| FGFR2fibroblast growth factor receptor 2 | Ikke registreret | I 1 tilstand |
| GDF5growth differentiation factor 5 | Ikke registreret | I 1 tilstand |
| GNPATglyceronephosphate O-acyltransferase | Ikke registreret | I 1 tilstand |
| HSPD1heat shock protein family D (Hsp60) member 1 | Ikke registreret | I 1 tilstand |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Ikke registreret | I 1 tilstand |
| IDUAalpha-L-iduronidase | Ikke registreret | I 1 tilstand |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Ikke registreret | I 1 tilstand |
| KLC2kinesin light chain 2 | Ikke registreret | I 1 tilstand |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Ikke registreret | I 1 tilstand |
| LEMD3LEM domain containing 3 | Ikke registreret | I 1 tilstand |
| LGI4leucine rich repeat LGI family member 4 | Ikke registreret | I 1 tilstand |
| MED12mediator complex subunit 12 | Ikke registreret | I 1 tilstand |
| MPDU1mannose-P-dolichol utilization defect 1 | Ikke registreret | I 1 tilstand |
| MTM1myotubularin 1 | Ikke registreret | I 1 tilstand |
| MTMR14myotubularin related protein 14 | Ikke registreret | I 1 tilstand |
| MYL1myosin light chain 1 | Ikke registreret | I 1 tilstand |
| MYMKmyomaker, myoblast fusion factor | Ikke registreret | I 1 tilstand |
| MYO18Bmyosin XVIIIB | Ikke registreret | I 1 tilstand |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Ikke registreret | I 1 tilstand |
| NEFLneurofilament light chain | Ikke registreret | I 1 tilstand |
| NKX3-2NK3 homeobox 2 | Ikke registreret | I 1 tilstand |
| NT5C25'-nucleotidase, cytosolic II | Ikke registreret | I 1 tilstand |
| ORC1origin recognition complex subunit 1 | Ikke registreret | I 1 tilstand |
| OTUD6BOTU deubiquitinase 6B | Ikke registreret | I 1 tilstand |
| PEX7peroxisomal biogenesis factor 7 | Ikke registreret | I 1 tilstand |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Ikke registreret | I 1 tilstand |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Ikke registreret | I 1 tilstand |
| PLOD2procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 | Ikke registreret | I 1 tilstand |
| PLP1proteolipid protein 1 | Ikke registreret | I 1 tilstand |
| PMM2phosphomannomutase 2 | Ikke registreret | I 1 tilstand |
| POMKprotein O-mannose kinase | Ikke registreret | I 1 tilstand |
| POMT1protein O-mannosyltransferase 1 | Ikke registreret | I 2 tilstande |
| POMT2protein O-mannosyltransferase 2 | Ikke registreret | I 1 tilstand |
| POP1POP1 ribonuclease P/MRP subunit | Ikke registreret | I 1 tilstand |
| PPT1palmitoyl-protein thioesterase 1 | Ikke registreret | I 1 tilstand |
| PSMB4proteasome 20S subunit beta 4 | Ikke registreret | I 1 tilstand |
| RAB18RAB18, member RAS oncogene family | Ikke registreret | I 1 tilstand |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Ikke registreret | I 1 tilstand |
| RNU4ATACRNA, U4atac small nuclear | Ikke registreret | I 1 tilstand |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Ikke registreret | I 1 tilstand |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Ikke registreret | I 1 tilstand |
| SGCAsarcoglycan alpha | Ikke registreret | I 1 tilstand |
| SGCGsarcoglycan gamma | Ikke registreret | I 1 tilstand |
| SIL1SIL1 nucleotide exchange factor | Ikke registreret | I 1 tilstand |
| SLC12A6solute carrier family 12 member 6 | Ikke registreret | I 1 tilstand |
| SLC1A2solute carrier family 1 member 2 | Ikke registreret | I 1 tilstand |
| SLC25A19solute carrier family 25 member 19 | Ikke registreret | I 1 tilstand |
| SLC25A46solute carrier family 25 member 46 | Ikke registreret | I 1 tilstand |
| SLC2A10solute carrier family 2 member 10 | Ikke registreret | I 1 tilstand |
| SLC6A9solute carrier family 6 member 9 | Ikke registreret | I 1 tilstand |
| SLC9A6solute carrier family 9 member A6 | Ikke registreret | I 1 tilstand |
| SPARTspartin | Ikke registreret | I 1 tilstand |
| STAC3SH3 and cysteine rich domain 3 | Ikke registreret | I 1 tilstand |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Ikke registreret | I 1 tilstand |
| TAPT1transmembrane anterior posterior transformation 1 | Ikke registreret | I 1 tilstand |
| TMEM107transmembrane protein 107 | Ikke registreret | I 1 tilstand |
| TRIP4thyroid hormone receptor interactor 4 | Ikke registreret | I 1 tilstand |
| TRPV3transient receptor potential cation channel subfamily V member 3 | Ikke registreret | I 1 tilstand |
| UBA1ubiquitin like modifier activating enzyme 1 | Ikke registreret | I 1 tilstand |
| UCHL1ubiquitin C-terminal hydrolase L1 | Ikke registreret | I 1 tilstand |
| VAMP1vesicle associated membrane protein 1 | Ikke registreret | I 1 tilstand |
| VPS53VPS53 subunit of GARP complex | Ikke registreret | I 1 tilstand |
| ZC4H2zinc finger C4H2-type containing | 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.
Snævrere træk
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