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Flexed joint that cannot be straightened
Kliiniline nimetus: 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.
Kokkuvõte
- Teised nimetused
- Flexion contractures, Flexion contractures of joints
- Kehasüsteem
- Abnormality of the musculoskeletal system
Flexed joint that cannot be straightenedHP:0001371
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Read the genes linked to Flexed joint that cannot be straightened, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test341 geeni on seotud tunnusega Flexed joint that cannot be straightened
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Flexed joint that cannot be straightened. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Alati | Esineb 1 haiguses |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Alati | Esineb 1 haiguses |
| ARSBarylsulfatase B | Alati | Esineb 1 haiguses |
| ATP11AATPase phospholipid transporting 11A | Alati | Esineb 1 haiguses |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Alati | Esineb 1 haiguses |
| BANF1barrier to autointegration nuclear assembly factor 1 | Alati | Esineb 1 haiguses |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Alati | Esineb 1 haiguses |
| CHRNB1cholinergic receptor nicotinic beta 1 subunit | Alati | Esineb 1 haiguses |
| CLDN11claudin 11 | Alati | Esineb 1 haiguses |
| COL12A1collagen type XII alpha 1 chain | Alati | Esineb 5 haiguses |
| COL25A1collagen type XXV alpha 1 chain | Alati | Esineb 1 haiguses |
| DNM2dynamin 2 | Alati | Esineb 2 haiguses |
| DSTdystonin | Alati | Esineb 1 haiguses |
| ECE1endothelin converting enzyme 1 | Alati | Esineb 1 haiguses |
| ERGIC1endoplasmic reticulum-golgi intermediate compartment 1 | Alati | Esineb 1 haiguses |
| FANCCFA complementation group C | Alati | Esineb 1 haiguses |
| FHL1four and a half LIM domains 1 | Alati | Esineb 2 haiguses |
| FLNAfilamin A | Alati | Esineb 2 haiguses |
| FUCA1alpha-L-fucosidase 1 | Alati | Esineb 1 haiguses |
| GOLGA2golgin A2 | Alati | Esineb 1 haiguses |
| KCNK3potassium two pore domain channel subfamily K member 3 | Alati | Esineb 1 haiguses |
| KYkyphoscoliosis peptidase | Alati | Esineb 1 haiguses |
| MECP2methyl-CpG binding protein 2 | Alati | Esineb 1 haiguses |
| MYBPC1myosin binding protein C1 | Alati | Esineb 2 haiguses |
| MYH3myosin heavy chain 3 | Alati | Esineb 1 haiguses |
| PHACTR1phosphatase and actin regulator 1 | Alati | Esineb 1 haiguses |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Alati | Esineb 2 haiguses |
| PSMB8proteasome 20S subunit beta 8 | Alati | Esineb 1 haiguses |
| PSMG2proteasome assembly chaperone 2 | Alati | Esineb 1 haiguses |
| PTF1Apancreas associated transcription factor 1a | Alati | Esineb 1 haiguses |
| PYCR1pyrroline-5-carboxylate reductase 1 | Alati | Esineb 1 haiguses |
| RAPSNreceptor associated protein of the synapse | Alati | Esineb 1 haiguses |
| RIPK4receptor interacting serine/threonine kinase 4 | Alati | Esineb 1 haiguses |
| RNF13ring finger protein 13 | Alati | Esineb 2 haiguses |
| RNU6ATACRNA, U6atac small nuclear | Alati | Esineb 1 haiguses |
| SCYL2SCY1 like pseudokinase 2 | Alati | Esineb 1 haiguses |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Alati | Esineb 1 haiguses |
| SEC31ASEC31 homolog A, COPII component | Alati | Esineb 1 haiguses |
| SHPKsedoheptulokinase | Alati | Esineb 1 haiguses |
| TAF4TATA-box binding protein associated factor 4 | Alati | Esineb 1 haiguses |
Näita veel 301 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| TMEM63Btransmembrane protein 63B | Alati | Esineb 1 haiguses |
| TOP2BDNA topoisomerase II beta | Alati | Esineb 1 haiguses |
| TOR1Atorsin family 1 member A | Alati | Esineb 1 haiguses |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Alati | Esineb 2 haiguses |
| VPS11VPS11 core subunit of CORVET and HOPS complexes | Alati | Esineb 1 haiguses |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Alati | Esineb 2 haiguses |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Alati | Esineb 1 haiguses |
| ZMPSTE24zinc metallopeptidase STE24 | Alati | Esineb 2 haiguses |
| ZPR1ZPR1 zinc finger | Alati | Esineb 1 haiguses |
| ANTXR2ANTXR cell adhesion molecule 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ASAH1N-acylsphingosine amidohydrolase 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| ASXL1ASXL transcriptional regulator 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| B4GALT7beta-1,4-galactosyltransferase 7 | Väga sageli (80–99%) | Esineb 2 haiguses |
| CHST3carbohydrate sulfotransferase 3 | Väga sageli (80–99%) | Esineb 2 haiguses |
| CLCF1cardiotrophin like cytokine factor 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| COL6A1collagen type VI alpha 1 chain | Väga sageli (80–99%) | Esineb 3 haiguses |
| COL6A2collagen type VI alpha 2 chain | Väga sageli (80–99%) | Esineb 2 haiguses |
| COL6A3collagen type VI alpha 3 chain | Väga sageli (80–99%) | Esineb 2 haiguses |
| COL7A1collagen type VII alpha 1 chain | Väga sageli (80–99%) | Esineb 3 haiguses |
| CRLF1cytokine receptor like factor 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| DMDdystrophin | Väga sageli (80–99%) | Esineb 2 haiguses |
| ERLIN2ER lipid raft associated 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| FBN1fibrillin 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| FBN2fibrillin 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| FKTNfukutin | Väga sageli (80–99%) | Esineb 3 haiguses |
| GUSBglucuronidase beta | Väga sageli (80–99%) | Esineb 1 haiguses |
| KLHL40kelch like family member 40 | Väga sageli (80–99%) | Esineb 2 haiguses |
| LTBP4latent transforming growth factor beta binding protein 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MAGEL2MAGE family member L2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| MMP1matrix metallopeptidase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ZBTB20zinc finger and BTB domain containing 20 | Väga sageli (80–99%) | Esineb 2 haiguses |
| ACTA1actin alpha 1, skeletal muscle | Sageli (30–79%) | Esineb 5 haiguses |
| ADGRG1adhesion G protein-coupled receptor G1 | Sageli (30–79%) | Esineb 1 haiguses |
| AIMP2aminoacyl tRNA synthetase complex interacting multifunctional protein 2 | Sageli (30–79%) | Esineb 1 haiguses |
| BIN1bridging integrator 1 | Sageli (30–79%) | Esineb 1 haiguses |
| CAPN3calpain 3 | Sageli (30–79%) | Esineb 2 haiguses |
| CAV1caveolin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| CAVIN1caveolae associated protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| CCN2cellular communication network factor 2 | Sageli (30–79%) | Esineb 1 haiguses |
| CCR6C-C motif chemokine receptor 6 | Sageli (30–79%) | Esineb 1 haiguses |
| CHRNGcholinergic receptor nicotinic gamma subunit | Sageli (30–79%) | Esineb 2 haiguses |
| DCXdoublecortin | Sageli (30–79%) | Esineb 1 haiguses |
| DLK1delta like non-canonical Notch ligand 1 | Sageli (30–79%) | Esineb 2 haiguses |
| ELNelastin | Sageli (30–79%) | Esineb 1 haiguses |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Sageli (30–79%) | Esineb 3 haiguses |
| EXOC2exocyst complex component 2 | Sageli (30–79%) | Esineb 1 haiguses |
| EXOC8exocyst complex component 8 | Sageli (30–79%) | Esineb 1 haiguses |
| FITM2fat storage inducing transmembrane protein 2 | Sageli (30–79%) | Esineb 1 haiguses |
| FOXP1forkhead box P1 | Sageli (30–79%) | Esineb 1 haiguses |
| GAD1glutamate decarboxylase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| GBA1glucosylceramidase beta 1 | Sageli (30–79%) | Esineb 2 haiguses |
| GBE11,4-alpha-glucan branching enzyme 1 | Sageli (30–79%) | Esineb 1 haiguses |
| GDAP1ganglioside induced differentiation associated protein 1 | Sageli (30–79%) | Esineb 2 haiguses |
| GLULglutamate-ammonia ligase | Sageli (30–79%) | Esineb 1 haiguses |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Sageli (30–79%) | Esineb 1 haiguses |
| H3-3AH3.3 histone A | Sageli (30–79%) | Esineb 1 haiguses |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Sageli (30–79%) | Esineb 1 haiguses |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | Sageli (30–79%) | Esineb 1 haiguses |
| IDSiduronate 2-sulfatase | Sageli (30–79%) | Esineb 1 haiguses |
| IRF5interferon regulatory factor 5 | Sageli (30–79%) | Esineb 1 haiguses |
| ITGA7integrin subunit alpha 7 | Sageli (30–79%) | Esineb 1 haiguses |
| KCNJ6potassium inwardly rectifying channel subfamily J member 6 | Sageli (30–79%) | Esineb 2 haiguses |
| KIAA0753KIAA0753 | Sageli (30–79%) | Esineb 1 haiguses |
| KLHL41kelch like family member 41 | Sageli (30–79%) | Esineb 4 haiguses |
| KRT1keratin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| LAMA2laminin subunit alpha 2 | Sageli (30–79%) | Esineb 2 haiguses |
| LIFRLIF receptor subunit alpha | Sageli (30–79%) | Esineb 1 haiguses |
| LMNAlamin A/C | Sageli (30–79%) | Esineb 3 haiguses |
| LMOD3leiomodin 3 | Sageli (30–79%) | Esineb 3 haiguses |
| LMX1BLIM homeobox transcription factor 1 beta | Sageli (30–79%) | Esineb 1 haiguses |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Sageli (30–79%) | Esineb 1 haiguses |
| MEG3maternally expressed 3 | Sageli (30–79%) | Esineb 2 haiguses |
| MLXIPLMLX interacting protein like | Sageli (30–79%) | Esineb 1 haiguses |
| MTX2metaxin 2 | Sageli (30–79%) | Esineb 1 haiguses |
| MYL2myosin light chain 2 | Sageli (30–79%) | Esineb 1 haiguses |
| NALCNsodium leak channel, non-selective | Sageli (30–79%) | Esineb 1 haiguses |
| NEBnebulin | Sageli (30–79%) | Esineb 5 haiguses |
| NSRP1nuclear speckle splicing regulatory protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PI4KAphosphatidylinositol 4-kinase alpha | Sageli (30–79%) | Esineb 1 haiguses |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Sageli (30–79%) | Esineb 1 haiguses |
| RTL1retrotransposon Gag like 1 | Sageli (30–79%) | Esineb 2 haiguses |
| RTTNrotatin | Sageli (30–79%) | Esineb 1 haiguses |
| SELENONselenoprotein N | Sageli (30–79%) | Esineb 2 haiguses |
| SLC26A2solute carrier family 26 member 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SLURP1secreted LY6/PLAUR domain containing 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SNAPINSNAP associated protein | Sageli (30–79%) | Esineb 1 haiguses |
| SRPX2sushi repeat containing protein X-linked 2 | Sageli (30–79%) | Esineb 1 haiguses |
| TMEM70transmembrane protein 70 | Sageli (30–79%) | Esineb 1 haiguses |
| TPM2tropomyosin 2 | Sageli (30–79%) | Esineb 3 haiguses |
| TPM3tropomyosin 3 | Sageli (30–79%) | Esineb 4 haiguses |
| VWA1von Willebrand factor A domain containing 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ZNHIT3zinc finger HIT-type containing 3 | Sageli (30–79%) | Esineb 1 haiguses |
| ADGRG6adhesion G protein-coupled receptor G6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| AHSGalpha 2-HS glycoprotein | Mõnikord (5–29%) | Esineb 1 haiguses |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| ANKRD55ankyrin repeat domain 55 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ANO5anoctamin 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| APC2APC regulator of Wnt signaling pathway 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATMATM serine/threonine kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATRXATRX chromatin remodeler | Mõnikord (5–29%) | Esineb 1 haiguses |
| BCORBCL6 corepressor | Mõnikord (5–29%) | Esineb 1 haiguses |
| BICD2BICD cargo adaptor 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| BMPR1Abone morphogenetic protein receptor type 1A | Mõnikord (5–29%) | Esineb 1 haiguses |
| BRCA2BRCA2 DNA repair associated | Mõnikord (5–29%) | Esineb 1 haiguses |
| CARS1cysteinyl-tRNA synthetase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CD247CD247 molecule | Mõnikord (5–29%) | Esineb 1 haiguses |
| CDC42cell division cycle 42 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CDONcell adhesion associated, oncogene regulated | Mõnikord (5–29%) | Esineb 4 haiguses |
| CFL2cofilin 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CHEK2checkpoint kinase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CLPBClpB family mitochondrial disaggregase | Mõnikord (5–29%) | Esineb 1 haiguses |
| CREBBPCREB binding lysine acetyltransferase | Mõnikord (5–29%) | Esineb 2 haiguses |
| CRIPTOcripto, EGF-CFC family member | Mõnikord (5–29%) | Esineb 4 haiguses |
| DISP1dispatched RND transporter family member 1 | Mõnikord (5–29%) | Esineb 4 haiguses |
| DLL1delta like canonical Notch ligand 1 | Mõnikord (5–29%) | Esineb 4 haiguses |
| DNAJB6DnaJ heat shock protein family (Hsp40) member B6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Mõnikord (5–29%) | Esineb 3 haiguses |
| EBPEBP cholestenol delta-isomerase | Mõnikord (5–29%) | Esineb 1 haiguses |
| EPCAMepithelial cell adhesion molecule | Mõnikord (5–29%) | Esineb 1 haiguses |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Mõnikord (5–29%) | Esineb 2 haiguses |
| FERMT1FERM domain containing kindlin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FGF8fibroblast growth factor 8 | Mõnikord (5–29%) | Esineb 4 haiguses |
| FGFR1fibroblast growth factor receptor 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| FOXH1forkhead box H1 | Mõnikord (5–29%) | Esineb 4 haiguses |
| GAS1growth arrest specific 1 | Mõnikord (5–29%) | Esineb 4 haiguses |
| GFPT1glutamine--fructose-6-phosphate transaminase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GLDNgliomedin | Mõnikord (5–29%) | Esineb 1 haiguses |
| GLI2GLI family zinc finger 2 | Mõnikord (5–29%) | Esineb 4 haiguses |
| GMPPBGDP-mannose pyrophosphorylase B | Mõnikord (5–29%) | Esineb 1 haiguses |
| GNB2G protein subunit beta 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GPT2glutamic--pyruvic transaminase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GRID2glutamate ionotropic receptor delta type subunit 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HBA1hemoglobin subunit alpha 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HBA2hemoglobin subunit alpha 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HINT1histidine triad nucleotide binding protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HSPG2heparan sulfate proteoglycan 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IL2RAinterleukin 2 receptor subunit alpha | Mõnikord (5–29%) | Esineb 1 haiguses |
| IL2RBinterleukin 2 receptor subunit beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| ITGB4integrin subunit beta 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ITGB6integrin subunit beta 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KBTBD13kelch repeat and BTB domain containing 13 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KDM5Clysine demethylase 5C | Mõnikord (5–29%) | Esineb 1 haiguses |
| KIF1Akinesin family member 1A | Mõnikord (5–29%) | Esineb 1 haiguses |
| KRASKRas proto-oncogene, GTPase | Mõnikord (5–29%) | Esineb 1 haiguses |
| LMNB1lamin B1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LONP1lon peptidase 1, mitochondrial | Mõnikord (5–29%) | Esineb 1 haiguses |
| LPIN2lipin 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| LSSlanosterol synthase | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAN1B1mannosidase alpha class 1B member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MFN2mitofusin 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| MLH1mutL homolog 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MSH2mutS homolog 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MSH6mutS homolog 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MUTYHmutY DNA glycosylase | Mõnikord (5–29%) | Esineb 1 haiguses |
| MYPNmyopalladin | Mõnikord (5–29%) | Esineb 1 haiguses |
| NACC1nucleus accumbens associated 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NODALnodal growth differentiation factor | Mõnikord (5–29%) | Esineb 4 haiguses |
| NPATnuclear protein, coactivator of histone transcription | Mõnikord (5–29%) | Esineb 1 haiguses |
| NPPAnatriuretic peptide A | Mõnikord (5–29%) | Esineb 1 haiguses |
| NSD1nuclear receptor binding SET domain protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Mõnikord (5–29%) | Esineb 1 haiguses |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Mõnikord (5–29%) | Esineb 1 haiguses |
| PLA2G6phospholipase A2 group VI | Mõnikord (5–29%) | Esineb 1 haiguses |
| PLCH1phospholipase C eta 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PLECplectin | Mõnikord (5–29%) | Esineb 3 haiguses |
| PMS1PMS1 homolog 1, mismatch repair system component | Mõnikord (5–29%) | Esineb 1 haiguses |
| PMS2PMS1 homolog 2, mismatch repair system component | Mõnikord (5–29%) | Esineb 1 haiguses |
| POLD1DNA polymerase delta 1, catalytic subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| POLEDNA polymerase epsilon, catalytic subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| POLR3ARNA polymerase III subunit A | Mõnikord (5–29%) | Esineb 1 haiguses |
| PORcytochrome p450 oxidoreductase | Mõnikord (5–29%) | Esineb 2 haiguses |
| PTCH1patched 1 | Mõnikord (5–29%) | Esineb 4 haiguses |
| PTPN2protein tyrosine phosphatase non-receptor type 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PYCR2pyrroline-5-carboxylate reductase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPS20ribosomal protein S20 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RYR1ryanodine receptor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Mõnikord (5–29%) | Esineb 2 haiguses |
| SCN5Asodium voltage-gated channel alpha subunit 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SEMA4Asemaphorin 4A | Mõnikord (5–29%) | Esineb 1 haiguses |
| SHHsonic hedgehog signaling molecule | Mõnikord (5–29%) | Esineb 4 haiguses |
| SIX3SIX homeobox 3 | Mõnikord (5–29%) | Esineb 4 haiguses |
| SLC16A2solute carrier family 16 member 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| SLC39A13solute carrier family 39 member 13 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMC1Astructural maintenance of chromosomes 1A | Mõnikord (5–29%) | Esineb 1 haiguses |
| SONSON DNA and RNA binding protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| STAG2STAG2 cohesin complex component | Mõnikord (5–29%) | Esineb 2 haiguses |
| STAT4signal transducer and activator of transcription 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| STILSTIL centriolar assembly protein | Mõnikord (5–29%) | Esineb 4 haiguses |
| STIM1stromal interaction molecule 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Mõnikord (5–29%) | Esineb 1 haiguses |
| TBC1D20TBC1 domain family member 20 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TGFBR2transforming growth factor beta receptor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TGIF1TGFB induced factor homeobox 1 | Mõnikord (5–29%) | Esineb 4 haiguses |
| TGM1transglutaminase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| USP7ubiquitin specific peptidase 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| VMA21vacuolar ATPase assembly factor VMA21 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZEB2zinc finger E-box binding homeobox 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| ZIC2Zic family zinc finger 2 | Mõnikord (5–29%) | Esineb 4 haiguses |
| CNTNAP1contactin associated protein 1 | Harva (1–4%) | Esineb 1 haiguses |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Harva (1–4%) | Esineb 2 haiguses |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Harva (1–4%) | Esineb 1 haiguses |
| NARS1asparaginyl-tRNA synthetase 1 | Harva (1–4%) | Esineb 1 haiguses |
| TRAK1trafficking kinesin protein 1 | Harva (1–4%) | Esineb 1 haiguses |
| ACADSacyl-CoA dehydrogenase short chain | Pole registreeritud | Esineb 1 haiguses |
| ADCY6adenylate cyclase 6 | Pole registreeritud | Esineb 1 haiguses |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Pole registreeritud | Esineb 1 haiguses |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Pole registreeritud | Esineb 1 haiguses |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Pole registreeritud | Esineb 1 haiguses |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Pole registreeritud | Esineb 1 haiguses |
| AP4B1adaptor related protein complex 4 subunit beta 1 | Pole registreeritud | Esineb 1 haiguses |
| AP4E1adaptor related protein complex 4 subunit epsilon 1 | Pole registreeritud | Esineb 1 haiguses |
| AP4S1adaptor related protein complex 4 subunit sigma 1 | Pole registreeritud | Esineb 1 haiguses |
| ARXaristaless related homeobox | Pole registreeritud | Esineb 1 haiguses |
| ASCC1activating signal cointegrator 1 complex subunit 1 | Pole registreeritud | Esineb 1 haiguses |
| ATAD1ATPase family AAA domain containing 1 | Pole registreeritud | Esineb 1 haiguses |
| B3GALT6beta-1,3-galactosyltransferase 6 | Pole registreeritud | Esineb 1 haiguses |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Pole registreeritud | Esineb 1 haiguses |
| CHRNA1cholinergic receptor nicotinic alpha 1 subunit | Pole registreeritud | Esineb 1 haiguses |
| CHRNDcholinergic receptor nicotinic delta subunit | Pole registreeritud | Esineb 1 haiguses |
| COL11A2collagen type XI alpha 2 chain | Pole registreeritud | Esineb 1 haiguses |
| COL2A1collagen type II alpha 1 chain | Pole registreeritud | Esineb 1 haiguses |
| COQ7coenzyme Q7, hydroxylase | Pole registreeritud | Esineb 1 haiguses |
| DEGS1delta 4-desaturase, sphingolipid 1 | Pole registreeritud | Esineb 1 haiguses |
| EEDembryonic ectoderm development | Pole registreeritud | Esineb 1 haiguses |
| EP300EP300 lysine acetyltransferase | Pole registreeritud | Esineb 1 haiguses |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Pole registreeritud | Esineb 1 haiguses |
| EXOSC3exosome component 3 | Pole registreeritud | Esineb 1 haiguses |
| EXOSC9exosome component 9 | Pole registreeritud | Esineb 1 haiguses |
| FGFR2fibroblast growth factor receptor 2 | Pole registreeritud | Esineb 1 haiguses |
| GDF5growth differentiation factor 5 | Pole registreeritud | Esineb 1 haiguses |
| GNPATglyceronephosphate O-acyltransferase | Pole registreeritud | Esineb 1 haiguses |
| HSPD1heat shock protein family D (Hsp60) member 1 | Pole registreeritud | Esineb 1 haiguses |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Pole registreeritud | Esineb 1 haiguses |
| IDUAalpha-L-iduronidase | Pole registreeritud | Esineb 1 haiguses |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Pole registreeritud | Esineb 1 haiguses |
| KLC2kinesin light chain 2 | Pole registreeritud | Esineb 1 haiguses |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Pole registreeritud | Esineb 1 haiguses |
| LEMD3LEM domain containing 3 | Pole registreeritud | Esineb 1 haiguses |
| LGI4leucine rich repeat LGI family member 4 | Pole registreeritud | Esineb 1 haiguses |
| MED12mediator complex subunit 12 | Pole registreeritud | Esineb 1 haiguses |
| MPDU1mannose-P-dolichol utilization defect 1 | Pole registreeritud | Esineb 1 haiguses |
| MTM1myotubularin 1 | Pole registreeritud | Esineb 1 haiguses |
| MTMR14myotubularin related protein 14 | Pole registreeritud | Esineb 1 haiguses |
| MYL1myosin light chain 1 | Pole registreeritud | Esineb 1 haiguses |
| MYMKmyomaker, myoblast fusion factor | Pole registreeritud | Esineb 1 haiguses |
| MYO18Bmyosin XVIIIB | Pole registreeritud | Esineb 1 haiguses |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Pole registreeritud | Esineb 1 haiguses |
| NEFLneurofilament light chain | Pole registreeritud | Esineb 1 haiguses |
| NKX3-2NK3 homeobox 2 | Pole registreeritud | Esineb 1 haiguses |
| NT5C25'-nucleotidase, cytosolic II | Pole registreeritud | Esineb 1 haiguses |
| ORC1origin recognition complex subunit 1 | Pole registreeritud | Esineb 1 haiguses |
| OTUD6BOTU deubiquitinase 6B | Pole registreeritud | Esineb 1 haiguses |
| PEX7peroxisomal biogenesis factor 7 | Pole registreeritud | Esineb 1 haiguses |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Pole registreeritud | Esineb 1 haiguses |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Pole registreeritud | Esineb 1 haiguses |
| PLOD2procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 | Pole registreeritud | Esineb 1 haiguses |
| PLP1proteolipid protein 1 | Pole registreeritud | Esineb 1 haiguses |
| PMM2phosphomannomutase 2 | Pole registreeritud | Esineb 1 haiguses |
| POMKprotein O-mannose kinase | Pole registreeritud | Esineb 1 haiguses |
| POMT1protein O-mannosyltransferase 1 | Pole registreeritud | Esineb 2 haiguses |
| POMT2protein O-mannosyltransferase 2 | Pole registreeritud | Esineb 1 haiguses |
| POP1POP1 ribonuclease P/MRP subunit | Pole registreeritud | Esineb 1 haiguses |
| PPT1palmitoyl-protein thioesterase 1 | Pole registreeritud | Esineb 1 haiguses |
| PSMB4proteasome 20S subunit beta 4 | Pole registreeritud | Esineb 1 haiguses |
| RAB18RAB18, member RAS oncogene family | Pole registreeritud | Esineb 1 haiguses |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Pole registreeritud | Esineb 1 haiguses |
| RNU4ATACRNA, U4atac small nuclear | Pole registreeritud | Esineb 1 haiguses |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Pole registreeritud | Esineb 1 haiguses |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Pole registreeritud | Esineb 1 haiguses |
| SGCAsarcoglycan alpha | Pole registreeritud | Esineb 1 haiguses |
| SGCGsarcoglycan gamma | Pole registreeritud | Esineb 1 haiguses |
| SIL1SIL1 nucleotide exchange factor | Pole registreeritud | Esineb 1 haiguses |
| SLC12A6solute carrier family 12 member 6 | Pole registreeritud | Esineb 1 haiguses |
| SLC1A2solute carrier family 1 member 2 | Pole registreeritud | Esineb 1 haiguses |
| SLC25A19solute carrier family 25 member 19 | Pole registreeritud | Esineb 1 haiguses |
| SLC25A46solute carrier family 25 member 46 | Pole registreeritud | Esineb 1 haiguses |
| SLC2A10solute carrier family 2 member 10 | Pole registreeritud | Esineb 1 haiguses |
| SLC6A9solute carrier family 6 member 9 | Pole registreeritud | Esineb 1 haiguses |
| SLC9A6solute carrier family 9 member A6 | Pole registreeritud | Esineb 1 haiguses |
| SPARTspartin | Pole registreeritud | Esineb 1 haiguses |
| STAC3SH3 and cysteine rich domain 3 | Pole registreeritud | Esineb 1 haiguses |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Pole registreeritud | Esineb 1 haiguses |
| TAPT1transmembrane anterior posterior transformation 1 | Pole registreeritud | Esineb 1 haiguses |
| TMEM107transmembrane protein 107 | Pole registreeritud | Esineb 1 haiguses |
| TRIP4thyroid hormone receptor interactor 4 | Pole registreeritud | Esineb 1 haiguses |
| TRPV3transient receptor potential cation channel subfamily V member 3 | Pole registreeritud | Esineb 1 haiguses |
| UBA1ubiquitin like modifier activating enzyme 1 | Pole registreeritud | Esineb 1 haiguses |
| UCHL1ubiquitin C-terminal hydrolase L1 | Pole registreeritud | Esineb 1 haiguses |
| VAMP1vesicle associated membrane protein 1 | Pole registreeritud | Esineb 1 haiguses |
| VPS53VPS53 subunit of GARP complex | Pole registreeritud | Esineb 1 haiguses |
| ZC4H2zinc finger C4H2-type containing | Pole registreeritud | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Kitsamad tunnused
Laiemad tunnused
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.16-c6eea6bf.
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