Cecha
Flexed joint that cannot be straightened
Nazwa kliniczna: 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.
Podsumowanie
- Znana także jako
- Flexion contractures, Flexion contractures of joints
- Układ organizmu
- Abnormality of the musculoskeletal system
Genom referencyjnyGRCh38hg38
Pozycje na stronach genów i wariantów zależą od tego wyboru, w tej przeglądarce.
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Zamawiam Genome Test341 genów powiązanych z Flexed joint that cannot be straightened
Zmiany w tych genach powodują rzadkie choroby, w których występuje Flexed joint that cannot be straightened. Większość osób z tą cechą nie ma żadnej z tych chorób, a gen z tej listy nic nie mówi o czyimkolwiek własnym genomie.
| Gen | Jak często występuje | Choroby |
|---|---|---|
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Zawsze | W 1 chorobie |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Zawsze | W 1 chorobie |
| ARSBarylsulfatase B | Zawsze | W 1 chorobie |
| ATP11AATPase phospholipid transporting 11A | Zawsze | W 1 chorobie |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Zawsze | W 1 chorobie |
| BANF1barrier to autointegration nuclear assembly factor 1 | Zawsze | W 1 chorobie |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Zawsze | W 1 chorobie |
| CHRNB1cholinergic receptor nicotinic beta 1 subunit | Zawsze | W 1 chorobie |
| CLDN11claudin 11 | Zawsze | W 1 chorobie |
| COL12A1collagen type XII alpha 1 chain | Zawsze | W 5 chorobach |
| COL25A1collagen type XXV alpha 1 chain | Zawsze | W 1 chorobie |
| DNM2dynamin 2 | Zawsze | W 2 chorobach |
| DSTdystonin | Zawsze | W 1 chorobie |
| ECE1endothelin converting enzyme 1 | Zawsze | W 1 chorobie |
| ERGIC1endoplasmic reticulum-golgi intermediate compartment 1 | Zawsze | W 1 chorobie |
| FANCCFA complementation group C | Zawsze | W 1 chorobie |
| FHL1four and a half LIM domains 1 | Zawsze | W 2 chorobach |
| FLNAfilamin A | Zawsze | W 2 chorobach |
| FUCA1alpha-L-fucosidase 1 | Zawsze | W 1 chorobie |
| GOLGA2golgin A2 | Zawsze | W 1 chorobie |
| KCNK3potassium two pore domain channel subfamily K member 3 | Zawsze | W 1 chorobie |
| KYkyphoscoliosis peptidase | Zawsze | W 1 chorobie |
| MECP2methyl-CpG binding protein 2 | Zawsze | W 1 chorobie |
| MYBPC1myosin binding protein C1 | Zawsze | W 2 chorobach |
| MYH3myosin heavy chain 3 | Zawsze | W 1 chorobie |
| PHACTR1phosphatase and actin regulator 1 | Zawsze | W 1 chorobie |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Zawsze | W 2 chorobach |
| PSMB8proteasome 20S subunit beta 8 | Zawsze | W 1 chorobie |
| PSMG2proteasome assembly chaperone 2 | Zawsze | W 1 chorobie |
| PTF1Apancreas associated transcription factor 1a | Zawsze | W 1 chorobie |
| PYCR1pyrroline-5-carboxylate reductase 1 | Zawsze | W 1 chorobie |
| RAPSNreceptor associated protein of the synapse | Zawsze | W 1 chorobie |
| RIPK4receptor interacting serine/threonine kinase 4 | Zawsze | W 1 chorobie |
| RNF13ring finger protein 13 | Zawsze | W 2 chorobach |
| RNU6ATACRNA, U6atac small nuclear | Zawsze | W 1 chorobie |
| SCYL2SCY1 like pseudokinase 2 | Zawsze | W 1 chorobie |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Zawsze | W 1 chorobie |
| SEC31ASEC31 homolog A, COPII component | Zawsze | W 1 chorobie |
| SHPKsedoheptulokinase | Zawsze | W 1 chorobie |
| TAF4TATA-box binding protein associated factor 4 | Zawsze | W 1 chorobie |
Pokaż jeszcze 301 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| TMEM63Btransmembrane protein 63B | Zawsze | W 1 chorobie |
| TOP2BDNA topoisomerase II beta | Zawsze | W 1 chorobie |
| TOR1Atorsin family 1 member A | Zawsze | W 1 chorobie |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Zawsze | W 2 chorobach |
| VPS11VPS11 core subunit of CORVET and HOPS complexes | Zawsze | W 1 chorobie |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Zawsze | W 2 chorobach |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Zawsze | W 1 chorobie |
| ZMPSTE24zinc metallopeptidase STE24 | Zawsze | W 2 chorobach |
| ZPR1ZPR1 zinc finger | Zawsze | W 1 chorobie |
| ANTXR2ANTXR cell adhesion molecule 2 | Bardzo często (80–99%) | W 1 chorobie |
| ASAH1N-acylsphingosine amidohydrolase 1 | Bardzo często (80–99%) | W 2 chorobach |
| ASXL1ASXL transcriptional regulator 1 | Bardzo często (80–99%) | W 1 chorobie |
| B4GALT7beta-1,4-galactosyltransferase 7 | Bardzo często (80–99%) | W 2 chorobach |
| CHST3carbohydrate sulfotransferase 3 | Bardzo często (80–99%) | W 2 chorobach |
| CLCF1cardiotrophin like cytokine factor 1 | Bardzo często (80–99%) | W 1 chorobie |
| COL6A1collagen type VI alpha 1 chain | Bardzo często (80–99%) | W 3 chorobach |
| COL6A2collagen type VI alpha 2 chain | Bardzo często (80–99%) | W 2 chorobach |
| COL6A3collagen type VI alpha 3 chain | Bardzo często (80–99%) | W 2 chorobach |
| COL7A1collagen type VII alpha 1 chain | Bardzo często (80–99%) | W 3 chorobach |
| CRLF1cytokine receptor like factor 1 | Bardzo często (80–99%) | W 1 chorobie |
| DMDdystrophin | Bardzo często (80–99%) | W 2 chorobach |
| ERLIN2ER lipid raft associated 2 | Bardzo często (80–99%) | W 1 chorobie |
| FBN1fibrillin 1 | Bardzo często (80–99%) | W 2 chorobach |
| FBN2fibrillin 2 | Bardzo często (80–99%) | W 1 chorobie |
| FKTNfukutin | Bardzo często (80–99%) | W 3 chorobach |
| GUSBglucuronidase beta | Bardzo często (80–99%) | W 1 chorobie |
| KLHL40kelch like family member 40 | Bardzo często (80–99%) | W 2 chorobach |
| LTBP4latent transforming growth factor beta binding protein 4 | Bardzo często (80–99%) | W 1 chorobie |
| MAGEL2MAGE family member L2 | Bardzo często (80–99%) | W 2 chorobach |
| MMP1matrix metallopeptidase 1 | Bardzo często (80–99%) | W 1 chorobie |
| ZBTB20zinc finger and BTB domain containing 20 | Bardzo często (80–99%) | W 2 chorobach |
| ACTA1actin alpha 1, skeletal muscle | Często (30–79%) | W 5 chorobach |
| ADGRG1adhesion G protein-coupled receptor G1 | Często (30–79%) | W 1 chorobie |
| AIMP2aminoacyl tRNA synthetase complex interacting multifunctional protein 2 | Często (30–79%) | W 1 chorobie |
| BIN1bridging integrator 1 | Często (30–79%) | W 1 chorobie |
| CAPN3calpain 3 | Często (30–79%) | W 2 chorobach |
| CAV1caveolin 1 | Często (30–79%) | W 1 chorobie |
| CAVIN1caveolae associated protein 1 | Często (30–79%) | W 1 chorobie |
| CCN2cellular communication network factor 2 | Często (30–79%) | W 1 chorobie |
| CCR6C-C motif chemokine receptor 6 | Często (30–79%) | W 1 chorobie |
| CHRNGcholinergic receptor nicotinic gamma subunit | Często (30–79%) | W 2 chorobach |
| DCXdoublecortin | Często (30–79%) | W 1 chorobie |
| DLK1delta like non-canonical Notch ligand 1 | Często (30–79%) | W 2 chorobach |
| ELNelastin | Często (30–79%) | W 1 chorobie |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Często (30–79%) | W 3 chorobach |
| EXOC2exocyst complex component 2 | Często (30–79%) | W 1 chorobie |
| EXOC8exocyst complex component 8 | Często (30–79%) | W 1 chorobie |
| FITM2fat storage inducing transmembrane protein 2 | Często (30–79%) | W 1 chorobie |
| FOXP1forkhead box P1 | Często (30–79%) | W 1 chorobie |
| GAD1glutamate decarboxylase 1 | Często (30–79%) | W 1 chorobie |
| GBA1glucosylceramidase beta 1 | Często (30–79%) | W 2 chorobach |
| GBE11,4-alpha-glucan branching enzyme 1 | Często (30–79%) | W 1 chorobie |
| GDAP1ganglioside induced differentiation associated protein 1 | Często (30–79%) | W 2 chorobach |
| GLULglutamate-ammonia ligase | Często (30–79%) | W 1 chorobie |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Często (30–79%) | W 1 chorobie |
| H3-3AH3.3 histone A | Często (30–79%) | W 1 chorobie |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Często (30–79%) | W 1 chorobie |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Często (30–79%) | W 1 chorobie |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | Często (30–79%) | W 1 chorobie |
| IDSiduronate 2-sulfatase | Często (30–79%) | W 1 chorobie |
| IRF5interferon regulatory factor 5 | Często (30–79%) | W 1 chorobie |
| ITGA7integrin subunit alpha 7 | Często (30–79%) | W 1 chorobie |
| KCNJ6potassium inwardly rectifying channel subfamily J member 6 | Często (30–79%) | W 2 chorobach |
| KIAA0753KIAA0753 | Często (30–79%) | W 1 chorobie |
| KLHL41kelch like family member 41 | Często (30–79%) | W 4 chorobach |
| KRT1keratin 1 | Często (30–79%) | W 1 chorobie |
| LAMA2laminin subunit alpha 2 | Często (30–79%) | W 2 chorobach |
| LIFRLIF receptor subunit alpha | Często (30–79%) | W 1 chorobie |
| LMNAlamin A/C | Często (30–79%) | W 3 chorobach |
| LMOD3leiomodin 3 | Często (30–79%) | W 3 chorobach |
| LMX1BLIM homeobox transcription factor 1 beta | Często (30–79%) | W 1 chorobie |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Często (30–79%) | W 1 chorobie |
| MEG3maternally expressed 3 | Często (30–79%) | W 2 chorobach |
| MLXIPLMLX interacting protein like | Często (30–79%) | W 1 chorobie |
| MTX2metaxin 2 | Często (30–79%) | W 1 chorobie |
| MYL2myosin light chain 2 | Często (30–79%) | W 1 chorobie |
| NALCNsodium leak channel, non-selective | Często (30–79%) | W 1 chorobie |
| NEBnebulin | Często (30–79%) | W 5 chorobach |
| NSRP1nuclear speckle splicing regulatory protein 1 | Często (30–79%) | W 1 chorobie |
| PI4KAphosphatidylinositol 4-kinase alpha | Często (30–79%) | W 1 chorobie |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Często (30–79%) | W 1 chorobie |
| RTL1retrotransposon Gag like 1 | Często (30–79%) | W 2 chorobach |
| RTTNrotatin | Często (30–79%) | W 1 chorobie |
| SELENONselenoprotein N | Często (30–79%) | W 2 chorobach |
| SLC26A2solute carrier family 26 member 2 | Często (30–79%) | W 1 chorobie |
| SLURP1secreted LY6/PLAUR domain containing 1 | Często (30–79%) | W 1 chorobie |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Często (30–79%) | W 1 chorobie |
| SNAPINSNAP associated protein | Często (30–79%) | W 1 chorobie |
| SRPX2sushi repeat containing protein X-linked 2 | Często (30–79%) | W 1 chorobie |
| TMEM70transmembrane protein 70 | Często (30–79%) | W 1 chorobie |
| TPM2tropomyosin 2 | Często (30–79%) | W 3 chorobach |
| TPM3tropomyosin 3 | Często (30–79%) | W 4 chorobach |
| VWA1von Willebrand factor A domain containing 1 | Często (30–79%) | W 1 chorobie |
| ZNHIT3zinc finger HIT-type containing 3 | Często (30–79%) | W 1 chorobie |
| ADGRG6adhesion G protein-coupled receptor G6 | Czasami (5–29%) | W 1 chorobie |
| AHSGalpha 2-HS glycoprotein | Czasami (5–29%) | W 1 chorobie |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Czasami (5–29%) | W 1 chorobie |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Czasami (5–29%) | W 1 chorobie |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Czasami (5–29%) | W 1 chorobie |
| ANKRD55ankyrin repeat domain 55 | Czasami (5–29%) | W 1 chorobie |
| ANO5anoctamin 5 | Czasami (5–29%) | W 1 chorobie |
| APC2APC regulator of Wnt signaling pathway 2 | Czasami (5–29%) | W 1 chorobie |
| ATMATM serine/threonine kinase | Czasami (5–29%) | W 1 chorobie |
| ATRXATRX chromatin remodeler | Czasami (5–29%) | W 1 chorobie |
| BCORBCL6 corepressor | Czasami (5–29%) | W 1 chorobie |
| BICD2BICD cargo adaptor 2 | Czasami (5–29%) | W 2 chorobach |
| BMPR1Abone morphogenetic protein receptor type 1A | Czasami (5–29%) | W 1 chorobie |
| BRCA2BRCA2 DNA repair associated | Czasami (5–29%) | W 1 chorobie |
| CARS1cysteinyl-tRNA synthetase 1 | Czasami (5–29%) | W 1 chorobie |
| CD247CD247 molecule | Czasami (5–29%) | W 1 chorobie |
| CDC42cell division cycle 42 | Czasami (5–29%) | W 1 chorobie |
| CDONcell adhesion associated, oncogene regulated | Czasami (5–29%) | W 4 chorobach |
| CFL2cofilin 2 | Czasami (5–29%) | W 1 chorobie |
| CHEK2checkpoint kinase 2 | Czasami (5–29%) | W 1 chorobie |
| CLPBClpB family mitochondrial disaggregase | Czasami (5–29%) | W 1 chorobie |
| CREBBPCREB binding lysine acetyltransferase | Czasami (5–29%) | W 2 chorobach |
| CRIPTOcripto, EGF-CFC family member | Czasami (5–29%) | W 4 chorobach |
| DISP1dispatched RND transporter family member 1 | Czasami (5–29%) | W 4 chorobach |
| DLL1delta like canonical Notch ligand 1 | Czasami (5–29%) | W 4 chorobach |
| DNAJB6DnaJ heat shock protein family (Hsp40) member B6 | Czasami (5–29%) | W 1 chorobie |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Czasami (5–29%) | W 3 chorobach |
| EBPEBP cholestenol delta-isomerase | Czasami (5–29%) | W 1 chorobie |
| EPCAMepithelial cell adhesion molecule | Czasami (5–29%) | W 1 chorobie |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Czasami (5–29%) | W 1 chorobie |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Czasami (5–29%) | W 1 chorobie |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Czasami (5–29%) | W 2 chorobach |
| FERMT1FERM domain containing kindlin 1 | Czasami (5–29%) | W 1 chorobie |
| FGF8fibroblast growth factor 8 | Czasami (5–29%) | W 4 chorobach |
| FGFR1fibroblast growth factor receptor 1 | Czasami (5–29%) | W 2 chorobach |
| FOXH1forkhead box H1 | Czasami (5–29%) | W 4 chorobach |
| GAS1growth arrest specific 1 | Czasami (5–29%) | W 4 chorobach |
| GFPT1glutamine--fructose-6-phosphate transaminase 1 | Czasami (5–29%) | W 1 chorobie |
| GLDNgliomedin | Czasami (5–29%) | W 1 chorobie |
| GLI2GLI family zinc finger 2 | Czasami (5–29%) | W 4 chorobach |
| GMPPBGDP-mannose pyrophosphorylase B | Czasami (5–29%) | W 1 chorobie |
| GNB2G protein subunit beta 2 | Czasami (5–29%) | W 1 chorobie |
| GPT2glutamic--pyruvic transaminase 2 | Czasami (5–29%) | W 1 chorobie |
| GRID2glutamate ionotropic receptor delta type subunit 2 | Czasami (5–29%) | W 1 chorobie |
| HBA1hemoglobin subunit alpha 1 | Czasami (5–29%) | W 1 chorobie |
| HBA2hemoglobin subunit alpha 2 | Czasami (5–29%) | W 1 chorobie |
| HINT1histidine triad nucleotide binding protein 1 | Czasami (5–29%) | W 1 chorobie |
| HSPG2heparan sulfate proteoglycan 2 | Czasami (5–29%) | W 1 chorobie |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Czasami (5–29%) | W 1 chorobie |
| IL2RAinterleukin 2 receptor subunit alpha | Czasami (5–29%) | W 1 chorobie |
| IL2RBinterleukin 2 receptor subunit beta | Czasami (5–29%) | W 1 chorobie |
| ITGB4integrin subunit beta 4 | Czasami (5–29%) | W 1 chorobie |
| ITGB6integrin subunit beta 6 | Czasami (5–29%) | W 1 chorobie |
| KBTBD13kelch repeat and BTB domain containing 13 | Czasami (5–29%) | W 1 chorobie |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Czasami (5–29%) | W 1 chorobie |
| KDM5Clysine demethylase 5C | Czasami (5–29%) | W 1 chorobie |
| KIF1Akinesin family member 1A | Czasami (5–29%) | W 1 chorobie |
| KRASKRas proto-oncogene, GTPase | Czasami (5–29%) | W 1 chorobie |
| LMNB1lamin B1 | Czasami (5–29%) | W 1 chorobie |
| LONP1lon peptidase 1, mitochondrial | Czasami (5–29%) | W 1 chorobie |
| LPIN2lipin 2 | Czasami (5–29%) | W 2 chorobach |
| LSSlanosterol synthase | Czasami (5–29%) | W 1 chorobie |
| MAN1B1mannosidase alpha class 1B member 1 | Czasami (5–29%) | W 1 chorobie |
| MFN2mitofusin 2 | Czasami (5–29%) | W 2 chorobach |
| MLH1mutL homolog 1 | Czasami (5–29%) | W 1 chorobie |
| MSH2mutS homolog 2 | Czasami (5–29%) | W 1 chorobie |
| MSH6mutS homolog 6 | Czasami (5–29%) | W 1 chorobie |
| MUTYHmutY DNA glycosylase | Czasami (5–29%) | W 1 chorobie |
| MYPNmyopalladin | Czasami (5–29%) | W 1 chorobie |
| NACC1nucleus accumbens associated 1 | Czasami (5–29%) | W 1 chorobie |
| NODALnodal growth differentiation factor | Czasami (5–29%) | W 4 chorobach |
| NPATnuclear protein, coactivator of histone transcription | Czasami (5–29%) | W 1 chorobie |
| NPPAnatriuretic peptide A | Czasami (5–29%) | W 1 chorobie |
| NSD1nuclear receptor binding SET domain protein 1 | Czasami (5–29%) | W 1 chorobie |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Czasami (5–29%) | W 1 chorobie |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Czasami (5–29%) | W 1 chorobie |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Czasami (5–29%) | W 1 chorobie |
| PLA2G6phospholipase A2 group VI | Czasami (5–29%) | W 1 chorobie |
| PLCH1phospholipase C eta 1 | Czasami (5–29%) | W 1 chorobie |
| PLECplectin | Czasami (5–29%) | W 3 chorobach |
| PMS1PMS1 homolog 1, mismatch repair system component | Czasami (5–29%) | W 1 chorobie |
| PMS2PMS1 homolog 2, mismatch repair system component | Czasami (5–29%) | W 1 chorobie |
| POLD1DNA polymerase delta 1, catalytic subunit | Czasami (5–29%) | W 1 chorobie |
| POLEDNA polymerase epsilon, catalytic subunit | Czasami (5–29%) | W 1 chorobie |
| POLR3ARNA polymerase III subunit A | Czasami (5–29%) | W 1 chorobie |
| PORcytochrome p450 oxidoreductase | Czasami (5–29%) | W 2 chorobach |
| PTCH1patched 1 | Czasami (5–29%) | W 4 chorobach |
| PTPN2protein tyrosine phosphatase non-receptor type 2 | Czasami (5–29%) | W 1 chorobie |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Czasami (5–29%) | W 1 chorobie |
| PYCR2pyrroline-5-carboxylate reductase 2 | Czasami (5–29%) | W 1 chorobie |
| RPS20ribosomal protein S20 | Czasami (5–29%) | W 1 chorobie |
| RYR1ryanodine receptor 1 | Czasami (5–29%) | W 1 chorobie |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Czasami (5–29%) | W 2 chorobach |
| SCN5Asodium voltage-gated channel alpha subunit 5 | Czasami (5–29%) | W 1 chorobie |
| SEMA4Asemaphorin 4A | Czasami (5–29%) | W 1 chorobie |
| SHHsonic hedgehog signaling molecule | Czasami (5–29%) | W 4 chorobach |
| SIX3SIX homeobox 3 | Czasami (5–29%) | W 4 chorobach |
| SLC16A2solute carrier family 16 member 2 | Czasami (5–29%) | W 2 chorobach |
| SLC39A13solute carrier family 39 member 13 | Czasami (5–29%) | W 1 chorobie |
| SMC1Astructural maintenance of chromosomes 1A | Czasami (5–29%) | W 1 chorobie |
| SONSON DNA and RNA binding protein | Czasami (5–29%) | W 1 chorobie |
| STAG2STAG2 cohesin complex component | Czasami (5–29%) | W 2 chorobach |
| STAT4signal transducer and activator of transcription 4 | Czasami (5–29%) | W 1 chorobie |
| STILSTIL centriolar assembly protein | Czasami (5–29%) | W 4 chorobach |
| STIM1stromal interaction molecule 1 | Czasami (5–29%) | W 1 chorobie |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Czasami (5–29%) | W 1 chorobie |
| TBC1D20TBC1 domain family member 20 | Czasami (5–29%) | W 1 chorobie |
| TGFBR2transforming growth factor beta receptor 2 | Czasami (5–29%) | W 1 chorobie |
| TGIF1TGFB induced factor homeobox 1 | Czasami (5–29%) | W 4 chorobach |
| TGM1transglutaminase 1 | Czasami (5–29%) | W 1 chorobie |
| USP7ubiquitin specific peptidase 7 | Czasami (5–29%) | W 1 chorobie |
| VMA21vacuolar ATPase assembly factor VMA21 | Czasami (5–29%) | W 1 chorobie |
| ZEB2zinc finger E-box binding homeobox 2 | Czasami (5–29%) | W 2 chorobach |
| ZIC2Zic family zinc finger 2 | Czasami (5–29%) | W 4 chorobach |
| CNTNAP1contactin associated protein 1 | Rzadko (1–4%) | W 1 chorobie |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Rzadko (1–4%) | W 2 chorobach |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Rzadko (1–4%) | W 1 chorobie |
| NARS1asparaginyl-tRNA synthetase 1 | Rzadko (1–4%) | W 1 chorobie |
| TRAK1trafficking kinesin protein 1 | Rzadko (1–4%) | W 1 chorobie |
| ACADSacyl-CoA dehydrogenase short chain | Nie odnotowano | W 1 chorobie |
| ADCY6adenylate cyclase 6 | Nie odnotowano | W 1 chorobie |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Nie odnotowano | W 1 chorobie |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Nie odnotowano | W 1 chorobie |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Nie odnotowano | W 1 chorobie |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Nie odnotowano | W 1 chorobie |
| AP4B1adaptor related protein complex 4 subunit beta 1 | Nie odnotowano | W 1 chorobie |
| AP4E1adaptor related protein complex 4 subunit epsilon 1 | Nie odnotowano | W 1 chorobie |
| AP4S1adaptor related protein complex 4 subunit sigma 1 | Nie odnotowano | W 1 chorobie |
| ARXaristaless related homeobox | Nie odnotowano | W 1 chorobie |
| ASCC1activating signal cointegrator 1 complex subunit 1 | Nie odnotowano | W 1 chorobie |
| ATAD1ATPase family AAA domain containing 1 | Nie odnotowano | W 1 chorobie |
| B3GALT6beta-1,3-galactosyltransferase 6 | Nie odnotowano | W 1 chorobie |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Nie odnotowano | W 1 chorobie |
| CHRNA1cholinergic receptor nicotinic alpha 1 subunit | Nie odnotowano | W 1 chorobie |
| CHRNDcholinergic receptor nicotinic delta subunit | Nie odnotowano | W 1 chorobie |
| COL11A2collagen type XI alpha 2 chain | Nie odnotowano | W 1 chorobie |
| COL2A1collagen type II alpha 1 chain | Nie odnotowano | W 1 chorobie |
| COQ7coenzyme Q7, hydroxylase | Nie odnotowano | W 1 chorobie |
| DEGS1delta 4-desaturase, sphingolipid 1 | Nie odnotowano | W 1 chorobie |
| EEDembryonic ectoderm development | Nie odnotowano | W 1 chorobie |
| EP300EP300 lysine acetyltransferase | Nie odnotowano | W 1 chorobie |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Nie odnotowano | W 1 chorobie |
| EXOSC3exosome component 3 | Nie odnotowano | W 1 chorobie |
| EXOSC9exosome component 9 | Nie odnotowano | W 1 chorobie |
| FGFR2fibroblast growth factor receptor 2 | Nie odnotowano | W 1 chorobie |
| GDF5growth differentiation factor 5 | Nie odnotowano | W 1 chorobie |
| GNPATglyceronephosphate O-acyltransferase | Nie odnotowano | W 1 chorobie |
| HSPD1heat shock protein family D (Hsp60) member 1 | Nie odnotowano | W 1 chorobie |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Nie odnotowano | W 1 chorobie |
| IDUAalpha-L-iduronidase | Nie odnotowano | W 1 chorobie |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Nie odnotowano | W 1 chorobie |
| KLC2kinesin light chain 2 | Nie odnotowano | W 1 chorobie |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Nie odnotowano | W 1 chorobie |
| LEMD3LEM domain containing 3 | Nie odnotowano | W 1 chorobie |
| LGI4leucine rich repeat LGI family member 4 | Nie odnotowano | W 1 chorobie |
| MED12mediator complex subunit 12 | Nie odnotowano | W 1 chorobie |
| MPDU1mannose-P-dolichol utilization defect 1 | Nie odnotowano | W 1 chorobie |
| MTM1myotubularin 1 | Nie odnotowano | W 1 chorobie |
| MTMR14myotubularin related protein 14 | Nie odnotowano | W 1 chorobie |
| MYL1myosin light chain 1 | Nie odnotowano | W 1 chorobie |
| MYMKmyomaker, myoblast fusion factor | Nie odnotowano | W 1 chorobie |
| MYO18Bmyosin XVIIIB | Nie odnotowano | W 1 chorobie |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Nie odnotowano | W 1 chorobie |
| NEFLneurofilament light chain | Nie odnotowano | W 1 chorobie |
| NKX3-2NK3 homeobox 2 | Nie odnotowano | W 1 chorobie |
| NT5C25'-nucleotidase, cytosolic II | Nie odnotowano | W 1 chorobie |
| ORC1origin recognition complex subunit 1 | Nie odnotowano | W 1 chorobie |
| OTUD6BOTU deubiquitinase 6B | Nie odnotowano | W 1 chorobie |
| PEX7peroxisomal biogenesis factor 7 | Nie odnotowano | W 1 chorobie |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Nie odnotowano | W 1 chorobie |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Nie odnotowano | W 1 chorobie |
| PLOD2procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 | Nie odnotowano | W 1 chorobie |
| PLP1proteolipid protein 1 | Nie odnotowano | W 1 chorobie |
| PMM2phosphomannomutase 2 | Nie odnotowano | W 1 chorobie |
| POMKprotein O-mannose kinase | Nie odnotowano | W 1 chorobie |
| POMT1protein O-mannosyltransferase 1 | Nie odnotowano | W 2 chorobach |
| POMT2protein O-mannosyltransferase 2 | Nie odnotowano | W 1 chorobie |
| POP1POP1 ribonuclease P/MRP subunit | Nie odnotowano | W 1 chorobie |
| PPT1palmitoyl-protein thioesterase 1 | Nie odnotowano | W 1 chorobie |
| PSMB4proteasome 20S subunit beta 4 | Nie odnotowano | W 1 chorobie |
| RAB18RAB18, member RAS oncogene family | Nie odnotowano | W 1 chorobie |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Nie odnotowano | W 1 chorobie |
| RNU4ATACRNA, U4atac small nuclear | Nie odnotowano | W 1 chorobie |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Nie odnotowano | W 1 chorobie |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Nie odnotowano | W 1 chorobie |
| SGCAsarcoglycan alpha | Nie odnotowano | W 1 chorobie |
| SGCGsarcoglycan gamma | Nie odnotowano | W 1 chorobie |
| SIL1SIL1 nucleotide exchange factor | Nie odnotowano | W 1 chorobie |
| SLC12A6solute carrier family 12 member 6 | Nie odnotowano | W 1 chorobie |
| SLC1A2solute carrier family 1 member 2 | Nie odnotowano | W 1 chorobie |
| SLC25A19solute carrier family 25 member 19 | Nie odnotowano | W 1 chorobie |
| SLC25A46solute carrier family 25 member 46 | Nie odnotowano | W 1 chorobie |
| SLC2A10solute carrier family 2 member 10 | Nie odnotowano | W 1 chorobie |
| SLC6A9solute carrier family 6 member 9 | Nie odnotowano | W 1 chorobie |
| SLC9A6solute carrier family 9 member A6 | Nie odnotowano | W 1 chorobie |
| SPARTspartin | Nie odnotowano | W 1 chorobie |
| STAC3SH3 and cysteine rich domain 3 | Nie odnotowano | W 1 chorobie |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Nie odnotowano | W 1 chorobie |
| TAPT1transmembrane anterior posterior transformation 1 | Nie odnotowano | W 1 chorobie |
| TMEM107transmembrane protein 107 | Nie odnotowano | W 1 chorobie |
| TRIP4thyroid hormone receptor interactor 4 | Nie odnotowano | W 1 chorobie |
| TRPV3transient receptor potential cation channel subfamily V member 3 | Nie odnotowano | W 1 chorobie |
| UBA1ubiquitin like modifier activating enzyme 1 | Nie odnotowano | W 1 chorobie |
| UCHL1ubiquitin C-terminal hydrolase L1 | Nie odnotowano | W 1 chorobie |
| VAMP1vesicle associated membrane protein 1 | Nie odnotowano | W 1 chorobie |
| VPS53VPS53 subunit of GARP complex | Nie odnotowano | W 1 chorobie |
| ZC4H2zinc finger C4H2-type containing | Nie odnotowano | W 1 chorobie |
Jak często występuje wśród osób z jedną z chorób związanych z tym genem, najczęściej spośród wszystkich, według danych Human Phenotype Ontology. Te strony opisują cechy i badania, na których się opierają; nie są diagnozą, a w sprawie objawów należy zwrócić się do lekarza lub doradcy genetycznego.
Cechy podrzędne
Cechy nadrzędne
Skąd pochodzą te dane
- Human Phenotype Ontology, wydanie 2026-09-01: cecha, jej nazwy, definicja oraz geny z nią powiązane. Więcej informacji znajdą Państwo na stronie hpo.jax.org.
- Wydanie danych 2026.10.16-c6eea6bf.
Jeden test. Odpowiedzi na całe życie.
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