Požymis
Flexed joint that cannot be straightened
Klinikinis pavadinimas: 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.
Santrauka
- Taip pat vadinama
- Flexion contractures, Flexion contractures of joints
- Kūno sistema
- Abnormality of the musculoskeletal system
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
Read the genes linked to Flexed joint that cannot be straightened, and the rest of your genome, with one test.
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Įsigyti savo Genome Test341 genas susijęs su Flexed joint that cannot be straightened
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Flexed joint that cannot be straightened. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Visada | 1 ligoje |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Visada | 1 ligoje |
| ARSBarylsulfatase B | Visada | 1 ligoje |
| ATP11AATPase phospholipid transporting 11A | Visada | 1 ligoje |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Visada | 1 ligoje |
| BANF1barrier to autointegration nuclear assembly factor 1 | Visada | 1 ligoje |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Visada | 1 ligoje |
| CHRNB1cholinergic receptor nicotinic beta 1 subunit | Visada | 1 ligoje |
| CLDN11claudin 11 | Visada | 1 ligoje |
| COL12A1collagen type XII alpha 1 chain | Visada | 5 ligose |
| COL25A1collagen type XXV alpha 1 chain | Visada | 1 ligoje |
| DNM2dynamin 2 | Visada | 2 ligose |
| DSTdystonin | Visada | 1 ligoje |
| ECE1endothelin converting enzyme 1 | Visada | 1 ligoje |
| ERGIC1endoplasmic reticulum-golgi intermediate compartment 1 | Visada | 1 ligoje |
| FANCCFA complementation group C | Visada | 1 ligoje |
| FHL1four and a half LIM domains 1 | Visada | 2 ligose |
| FLNAfilamin A | Visada | 2 ligose |
| FUCA1alpha-L-fucosidase 1 | Visada | 1 ligoje |
| GOLGA2golgin A2 | Visada | 1 ligoje |
| KCNK3potassium two pore domain channel subfamily K member 3 | Visada | 1 ligoje |
| KYkyphoscoliosis peptidase | Visada | 1 ligoje |
| MECP2methyl-CpG binding protein 2 | Visada | 1 ligoje |
| MYBPC1myosin binding protein C1 | Visada | 2 ligose |
| MYH3myosin heavy chain 3 | Visada | 1 ligoje |
| PHACTR1phosphatase and actin regulator 1 | Visada | 1 ligoje |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Visada | 2 ligose |
| PSMB8proteasome 20S subunit beta 8 | Visada | 1 ligoje |
| PSMG2proteasome assembly chaperone 2 | Visada | 1 ligoje |
| PTF1Apancreas associated transcription factor 1a | Visada | 1 ligoje |
| PYCR1pyrroline-5-carboxylate reductase 1 | Visada | 1 ligoje |
| RAPSNreceptor associated protein of the synapse | Visada | 1 ligoje |
| RIPK4receptor interacting serine/threonine kinase 4 | Visada | 1 ligoje |
| RNF13ring finger protein 13 | Visada | 2 ligose |
| RNU6ATACRNA, U6atac small nuclear | Visada | 1 ligoje |
| SCYL2SCY1 like pseudokinase 2 | Visada | 1 ligoje |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Visada | 1 ligoje |
| SEC31ASEC31 homolog A, COPII component | Visada | 1 ligoje |
| SHPKsedoheptulokinase | Visada | 1 ligoje |
| TAF4TATA-box binding protein associated factor 4 | Visada | 1 ligoje |
Rodyti dar 301 geną
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| TMEM63Btransmembrane protein 63B | Visada | 1 ligoje |
| TOP2BDNA topoisomerase II beta | Visada | 1 ligoje |
| TOR1Atorsin family 1 member A | Visada | 1 ligoje |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Visada | 2 ligose |
| VPS11VPS11 core subunit of CORVET and HOPS complexes | Visada | 1 ligoje |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Visada | 2 ligose |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Visada | 1 ligoje |
| ZMPSTE24zinc metallopeptidase STE24 | Visada | 2 ligose |
| ZPR1ZPR1 zinc finger | Visada | 1 ligoje |
| ANTXR2ANTXR cell adhesion molecule 2 | Labai dažnai (80–99%) | 1 ligoje |
| ASAH1N-acylsphingosine amidohydrolase 1 | Labai dažnai (80–99%) | 2 ligose |
| ASXL1ASXL transcriptional regulator 1 | Labai dažnai (80–99%) | 1 ligoje |
| B4GALT7beta-1,4-galactosyltransferase 7 | Labai dažnai (80–99%) | 2 ligose |
| CHST3carbohydrate sulfotransferase 3 | Labai dažnai (80–99%) | 2 ligose |
| CLCF1cardiotrophin like cytokine factor 1 | Labai dažnai (80–99%) | 1 ligoje |
| COL6A1collagen type VI alpha 1 chain | Labai dažnai (80–99%) | 3 ligose |
| COL6A2collagen type VI alpha 2 chain | Labai dažnai (80–99%) | 2 ligose |
| COL6A3collagen type VI alpha 3 chain | Labai dažnai (80–99%) | 2 ligose |
| COL7A1collagen type VII alpha 1 chain | Labai dažnai (80–99%) | 3 ligose |
| CRLF1cytokine receptor like factor 1 | Labai dažnai (80–99%) | 1 ligoje |
| DMDdystrophin | Labai dažnai (80–99%) | 2 ligose |
| ERLIN2ER lipid raft associated 2 | Labai dažnai (80–99%) | 1 ligoje |
| FBN1fibrillin 1 | Labai dažnai (80–99%) | 2 ligose |
| FBN2fibrillin 2 | Labai dažnai (80–99%) | 1 ligoje |
| FKTNfukutin | Labai dažnai (80–99%) | 3 ligose |
| GUSBglucuronidase beta | Labai dažnai (80–99%) | 1 ligoje |
| KLHL40kelch like family member 40 | Labai dažnai (80–99%) | 2 ligose |
| LTBP4latent transforming growth factor beta binding protein 4 | Labai dažnai (80–99%) | 1 ligoje |
| MAGEL2MAGE family member L2 | Labai dažnai (80–99%) | 2 ligose |
| MMP1matrix metallopeptidase 1 | Labai dažnai (80–99%) | 1 ligoje |
| ZBTB20zinc finger and BTB domain containing 20 | Labai dažnai (80–99%) | 2 ligose |
| ACTA1actin alpha 1, skeletal muscle | Dažnai (30–79%) | 5 ligose |
| ADGRG1adhesion G protein-coupled receptor G1 | Dažnai (30–79%) | 1 ligoje |
| AIMP2aminoacyl tRNA synthetase complex interacting multifunctional protein 2 | Dažnai (30–79%) | 1 ligoje |
| BIN1bridging integrator 1 | Dažnai (30–79%) | 1 ligoje |
| CAPN3calpain 3 | Dažnai (30–79%) | 2 ligose |
| CAV1caveolin 1 | Dažnai (30–79%) | 1 ligoje |
| CAVIN1caveolae associated protein 1 | Dažnai (30–79%) | 1 ligoje |
| CCN2cellular communication network factor 2 | Dažnai (30–79%) | 1 ligoje |
| CCR6C-C motif chemokine receptor 6 | Dažnai (30–79%) | 1 ligoje |
| CHRNGcholinergic receptor nicotinic gamma subunit | Dažnai (30–79%) | 2 ligose |
| DCXdoublecortin | Dažnai (30–79%) | 1 ligoje |
| DLK1delta like non-canonical Notch ligand 1 | Dažnai (30–79%) | 2 ligose |
| ELNelastin | Dažnai (30–79%) | 1 ligoje |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Dažnai (30–79%) | 3 ligose |
| EXOC2exocyst complex component 2 | Dažnai (30–79%) | 1 ligoje |
| EXOC8exocyst complex component 8 | Dažnai (30–79%) | 1 ligoje |
| FITM2fat storage inducing transmembrane protein 2 | Dažnai (30–79%) | 1 ligoje |
| FOXP1forkhead box P1 | Dažnai (30–79%) | 1 ligoje |
| GAD1glutamate decarboxylase 1 | Dažnai (30–79%) | 1 ligoje |
| GBA1glucosylceramidase beta 1 | Dažnai (30–79%) | 2 ligose |
| GBE11,4-alpha-glucan branching enzyme 1 | Dažnai (30–79%) | 1 ligoje |
| GDAP1ganglioside induced differentiation associated protein 1 | Dažnai (30–79%) | 2 ligose |
| GLULglutamate-ammonia ligase | Dažnai (30–79%) | 1 ligoje |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Dažnai (30–79%) | 1 ligoje |
| H3-3AH3.3 histone A | Dažnai (30–79%) | 1 ligoje |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Dažnai (30–79%) | 1 ligoje |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Dažnai (30–79%) | 1 ligoje |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | Dažnai (30–79%) | 1 ligoje |
| IDSiduronate 2-sulfatase | Dažnai (30–79%) | 1 ligoje |
| IRF5interferon regulatory factor 5 | Dažnai (30–79%) | 1 ligoje |
| ITGA7integrin subunit alpha 7 | Dažnai (30–79%) | 1 ligoje |
| KCNJ6potassium inwardly rectifying channel subfamily J member 6 | Dažnai (30–79%) | 2 ligose |
| KIAA0753KIAA0753 | Dažnai (30–79%) | 1 ligoje |
| KLHL41kelch like family member 41 | Dažnai (30–79%) | 4 ligose |
| KRT1keratin 1 | Dažnai (30–79%) | 1 ligoje |
| LAMA2laminin subunit alpha 2 | Dažnai (30–79%) | 2 ligose |
| LIFRLIF receptor subunit alpha | Dažnai (30–79%) | 1 ligoje |
| LMNAlamin A/C | Dažnai (30–79%) | 3 ligose |
| LMOD3leiomodin 3 | Dažnai (30–79%) | 3 ligose |
| LMX1BLIM homeobox transcription factor 1 beta | Dažnai (30–79%) | 1 ligoje |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Dažnai (30–79%) | 1 ligoje |
| MEG3maternally expressed 3 | Dažnai (30–79%) | 2 ligose |
| MLXIPLMLX interacting protein like | Dažnai (30–79%) | 1 ligoje |
| MTX2metaxin 2 | Dažnai (30–79%) | 1 ligoje |
| MYL2myosin light chain 2 | Dažnai (30–79%) | 1 ligoje |
| NALCNsodium leak channel, non-selective | Dažnai (30–79%) | 1 ligoje |
| NEBnebulin | Dažnai (30–79%) | 5 ligose |
| NSRP1nuclear speckle splicing regulatory protein 1 | Dažnai (30–79%) | 1 ligoje |
| PI4KAphosphatidylinositol 4-kinase alpha | Dažnai (30–79%) | 1 ligoje |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Dažnai (30–79%) | 1 ligoje |
| RTL1retrotransposon Gag like 1 | Dažnai (30–79%) | 2 ligose |
| RTTNrotatin | Dažnai (30–79%) | 1 ligoje |
| SELENONselenoprotein N | Dažnai (30–79%) | 2 ligose |
| SLC26A2solute carrier family 26 member 2 | Dažnai (30–79%) | 1 ligoje |
| SLURP1secreted LY6/PLAUR domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Dažnai (30–79%) | 1 ligoje |
| SNAPINSNAP associated protein | Dažnai (30–79%) | 1 ligoje |
| SRPX2sushi repeat containing protein X-linked 2 | Dažnai (30–79%) | 1 ligoje |
| TMEM70transmembrane protein 70 | Dažnai (30–79%) | 1 ligoje |
| TPM2tropomyosin 2 | Dažnai (30–79%) | 3 ligose |
| TPM3tropomyosin 3 | Dažnai (30–79%) | 4 ligose |
| VWA1von Willebrand factor A domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| ZNHIT3zinc finger HIT-type containing 3 | Dažnai (30–79%) | 1 ligoje |
| ADGRG6adhesion G protein-coupled receptor G6 | Kartais (5–29%) | 1 ligoje |
| AHSGalpha 2-HS glycoprotein | Kartais (5–29%) | 1 ligoje |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Kartais (5–29%) | 1 ligoje |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Kartais (5–29%) | 1 ligoje |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Kartais (5–29%) | 1 ligoje |
| ANKRD55ankyrin repeat domain 55 | Kartais (5–29%) | 1 ligoje |
| ANO5anoctamin 5 | Kartais (5–29%) | 1 ligoje |
| APC2APC regulator of Wnt signaling pathway 2 | Kartais (5–29%) | 1 ligoje |
| ATMATM serine/threonine kinase | Kartais (5–29%) | 1 ligoje |
| ATRXATRX chromatin remodeler | Kartais (5–29%) | 1 ligoje |
| BCORBCL6 corepressor | Kartais (5–29%) | 1 ligoje |
| BICD2BICD cargo adaptor 2 | Kartais (5–29%) | 2 ligose |
| BMPR1Abone morphogenetic protein receptor type 1A | Kartais (5–29%) | 1 ligoje |
| BRCA2BRCA2 DNA repair associated | Kartais (5–29%) | 1 ligoje |
| CARS1cysteinyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| CD247CD247 molecule | Kartais (5–29%) | 1 ligoje |
| CDC42cell division cycle 42 | Kartais (5–29%) | 1 ligoje |
| CDONcell adhesion associated, oncogene regulated | Kartais (5–29%) | 4 ligose |
| CFL2cofilin 2 | Kartais (5–29%) | 1 ligoje |
| CHEK2checkpoint kinase 2 | Kartais (5–29%) | 1 ligoje |
| CLPBClpB family mitochondrial disaggregase | Kartais (5–29%) | 1 ligoje |
| CREBBPCREB binding lysine acetyltransferase | Kartais (5–29%) | 2 ligose |
| CRIPTOcripto, EGF-CFC family member | Kartais (5–29%) | 4 ligose |
| DISP1dispatched RND transporter family member 1 | Kartais (5–29%) | 4 ligose |
| DLL1delta like canonical Notch ligand 1 | Kartais (5–29%) | 4 ligose |
| DNAJB6DnaJ heat shock protein family (Hsp40) member B6 | Kartais (5–29%) | 1 ligoje |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Kartais (5–29%) | 3 ligose |
| EBPEBP cholestenol delta-isomerase | Kartais (5–29%) | 1 ligoje |
| EPCAMepithelial cell adhesion molecule | Kartais (5–29%) | 1 ligoje |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Kartais (5–29%) | 1 ligoje |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Kartais (5–29%) | 1 ligoje |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Kartais (5–29%) | 2 ligose |
| FERMT1FERM domain containing kindlin 1 | Kartais (5–29%) | 1 ligoje |
| FGF8fibroblast growth factor 8 | Kartais (5–29%) | 4 ligose |
| FGFR1fibroblast growth factor receptor 1 | Kartais (5–29%) | 2 ligose |
| FOXH1forkhead box H1 | Kartais (5–29%) | 4 ligose |
| GAS1growth arrest specific 1 | Kartais (5–29%) | 4 ligose |
| GFPT1glutamine--fructose-6-phosphate transaminase 1 | Kartais (5–29%) | 1 ligoje |
| GLDNgliomedin | Kartais (5–29%) | 1 ligoje |
| GLI2GLI family zinc finger 2 | Kartais (5–29%) | 4 ligose |
| GMPPBGDP-mannose pyrophosphorylase B | Kartais (5–29%) | 1 ligoje |
| GNB2G protein subunit beta 2 | Kartais (5–29%) | 1 ligoje |
| GPT2glutamic--pyruvic transaminase 2 | Kartais (5–29%) | 1 ligoje |
| GRID2glutamate ionotropic receptor delta type subunit 2 | Kartais (5–29%) | 1 ligoje |
| HBA1hemoglobin subunit alpha 1 | Kartais (5–29%) | 1 ligoje |
| HBA2hemoglobin subunit alpha 2 | Kartais (5–29%) | 1 ligoje |
| HINT1histidine triad nucleotide binding protein 1 | Kartais (5–29%) | 1 ligoje |
| HSPG2heparan sulfate proteoglycan 2 | Kartais (5–29%) | 1 ligoje |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Kartais (5–29%) | 1 ligoje |
| IL2RAinterleukin 2 receptor subunit alpha | Kartais (5–29%) | 1 ligoje |
| IL2RBinterleukin 2 receptor subunit beta | Kartais (5–29%) | 1 ligoje |
| ITGB4integrin subunit beta 4 | Kartais (5–29%) | 1 ligoje |
| ITGB6integrin subunit beta 6 | Kartais (5–29%) | 1 ligoje |
| KBTBD13kelch repeat and BTB domain containing 13 | Kartais (5–29%) | 1 ligoje |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Kartais (5–29%) | 1 ligoje |
| KDM5Clysine demethylase 5C | Kartais (5–29%) | 1 ligoje |
| KIF1Akinesin family member 1A | Kartais (5–29%) | 1 ligoje |
| KRASKRas proto-oncogene, GTPase | Kartais (5–29%) | 1 ligoje |
| LMNB1lamin B1 | Kartais (5–29%) | 1 ligoje |
| LONP1lon peptidase 1, mitochondrial | Kartais (5–29%) | 1 ligoje |
| LPIN2lipin 2 | Kartais (5–29%) | 2 ligose |
| LSSlanosterol synthase | Kartais (5–29%) | 1 ligoje |
| MAN1B1mannosidase alpha class 1B member 1 | Kartais (5–29%) | 1 ligoje |
| MFN2mitofusin 2 | Kartais (5–29%) | 2 ligose |
| MLH1mutL homolog 1 | Kartais (5–29%) | 1 ligoje |
| MSH2mutS homolog 2 | Kartais (5–29%) | 1 ligoje |
| MSH6mutS homolog 6 | Kartais (5–29%) | 1 ligoje |
| MUTYHmutY DNA glycosylase | Kartais (5–29%) | 1 ligoje |
| MYPNmyopalladin | Kartais (5–29%) | 1 ligoje |
| NACC1nucleus accumbens associated 1 | Kartais (5–29%) | 1 ligoje |
| NODALnodal growth differentiation factor | Kartais (5–29%) | 4 ligose |
| NPATnuclear protein, coactivator of histone transcription | Kartais (5–29%) | 1 ligoje |
| NPPAnatriuretic peptide A | Kartais (5–29%) | 1 ligoje |
| NSD1nuclear receptor binding SET domain protein 1 | Kartais (5–29%) | 1 ligoje |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Kartais (5–29%) | 1 ligoje |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Kartais (5–29%) | 1 ligoje |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Kartais (5–29%) | 1 ligoje |
| PLA2G6phospholipase A2 group VI | Kartais (5–29%) | 1 ligoje |
| PLCH1phospholipase C eta 1 | Kartais (5–29%) | 1 ligoje |
| PLECplectin | Kartais (5–29%) | 3 ligose |
| PMS1PMS1 homolog 1, mismatch repair system component | Kartais (5–29%) | 1 ligoje |
| PMS2PMS1 homolog 2, mismatch repair system component | Kartais (5–29%) | 1 ligoje |
| POLD1DNA polymerase delta 1, catalytic subunit | Kartais (5–29%) | 1 ligoje |
| POLEDNA polymerase epsilon, catalytic subunit | Kartais (5–29%) | 1 ligoje |
| POLR3ARNA polymerase III subunit A | Kartais (5–29%) | 1 ligoje |
| PORcytochrome p450 oxidoreductase | Kartais (5–29%) | 2 ligose |
| PTCH1patched 1 | Kartais (5–29%) | 4 ligose |
| PTPN2protein tyrosine phosphatase non-receptor type 2 | Kartais (5–29%) | 1 ligoje |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Kartais (5–29%) | 1 ligoje |
| PYCR2pyrroline-5-carboxylate reductase 2 | Kartais (5–29%) | 1 ligoje |
| RPS20ribosomal protein S20 | Kartais (5–29%) | 1 ligoje |
| RYR1ryanodine receptor 1 | Kartais (5–29%) | 1 ligoje |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Kartais (5–29%) | 2 ligose |
| SCN5Asodium voltage-gated channel alpha subunit 5 | Kartais (5–29%) | 1 ligoje |
| SEMA4Asemaphorin 4A | Kartais (5–29%) | 1 ligoje |
| SHHsonic hedgehog signaling molecule | Kartais (5–29%) | 4 ligose |
| SIX3SIX homeobox 3 | Kartais (5–29%) | 4 ligose |
| SLC16A2solute carrier family 16 member 2 | Kartais (5–29%) | 2 ligose |
| SLC39A13solute carrier family 39 member 13 | Kartais (5–29%) | 1 ligoje |
| SMC1Astructural maintenance of chromosomes 1A | Kartais (5–29%) | 1 ligoje |
| SONSON DNA and RNA binding protein | Kartais (5–29%) | 1 ligoje |
| STAG2STAG2 cohesin complex component | Kartais (5–29%) | 2 ligose |
| STAT4signal transducer and activator of transcription 4 | Kartais (5–29%) | 1 ligoje |
| STILSTIL centriolar assembly protein | Kartais (5–29%) | 4 ligose |
| STIM1stromal interaction molecule 1 | Kartais (5–29%) | 1 ligoje |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Kartais (5–29%) | 1 ligoje |
| TBC1D20TBC1 domain family member 20 | Kartais (5–29%) | 1 ligoje |
| TGFBR2transforming growth factor beta receptor 2 | Kartais (5–29%) | 1 ligoje |
| TGIF1TGFB induced factor homeobox 1 | Kartais (5–29%) | 4 ligose |
| TGM1transglutaminase 1 | Kartais (5–29%) | 1 ligoje |
| USP7ubiquitin specific peptidase 7 | Kartais (5–29%) | 1 ligoje |
| VMA21vacuolar ATPase assembly factor VMA21 | Kartais (5–29%) | 1 ligoje |
| ZEB2zinc finger E-box binding homeobox 2 | Kartais (5–29%) | 2 ligose |
| ZIC2Zic family zinc finger 2 | Kartais (5–29%) | 4 ligose |
| CNTNAP1contactin associated protein 1 | Retai (1–4 %) | 1 ligoje |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Retai (1–4 %) | 2 ligose |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Retai (1–4 %) | 1 ligoje |
| NARS1asparaginyl-tRNA synthetase 1 | Retai (1–4 %) | 1 ligoje |
| TRAK1trafficking kinesin protein 1 | Retai (1–4 %) | 1 ligoje |
| ACADSacyl-CoA dehydrogenase short chain | Neužfiksuota | 1 ligoje |
| ADCY6adenylate cyclase 6 | Neužfiksuota | 1 ligoje |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Neužfiksuota | 1 ligoje |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Neužfiksuota | 1 ligoje |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Neužfiksuota | 1 ligoje |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Neužfiksuota | 1 ligoje |
| AP4B1adaptor related protein complex 4 subunit beta 1 | Neužfiksuota | 1 ligoje |
| AP4E1adaptor related protein complex 4 subunit epsilon 1 | Neužfiksuota | 1 ligoje |
| AP4S1adaptor related protein complex 4 subunit sigma 1 | Neužfiksuota | 1 ligoje |
| ARXaristaless related homeobox | Neužfiksuota | 1 ligoje |
| ASCC1activating signal cointegrator 1 complex subunit 1 | Neužfiksuota | 1 ligoje |
| ATAD1ATPase family AAA domain containing 1 | Neužfiksuota | 1 ligoje |
| B3GALT6beta-1,3-galactosyltransferase 6 | Neužfiksuota | 1 ligoje |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Neužfiksuota | 1 ligoje |
| CHRNA1cholinergic receptor nicotinic alpha 1 subunit | Neužfiksuota | 1 ligoje |
| CHRNDcholinergic receptor nicotinic delta subunit | Neužfiksuota | 1 ligoje |
| COL11A2collagen type XI alpha 2 chain | Neužfiksuota | 1 ligoje |
| COL2A1collagen type II alpha 1 chain | Neužfiksuota | 1 ligoje |
| COQ7coenzyme Q7, hydroxylase | Neužfiksuota | 1 ligoje |
| DEGS1delta 4-desaturase, sphingolipid 1 | Neužfiksuota | 1 ligoje |
| EEDembryonic ectoderm development | Neužfiksuota | 1 ligoje |
| EP300EP300 lysine acetyltransferase | Neužfiksuota | 1 ligoje |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Neužfiksuota | 1 ligoje |
| EXOSC3exosome component 3 | Neužfiksuota | 1 ligoje |
| EXOSC9exosome component 9 | Neužfiksuota | 1 ligoje |
| FGFR2fibroblast growth factor receptor 2 | Neužfiksuota | 1 ligoje |
| GDF5growth differentiation factor 5 | Neužfiksuota | 1 ligoje |
| GNPATglyceronephosphate O-acyltransferase | Neužfiksuota | 1 ligoje |
| HSPD1heat shock protein family D (Hsp60) member 1 | Neužfiksuota | 1 ligoje |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Neužfiksuota | 1 ligoje |
| IDUAalpha-L-iduronidase | Neužfiksuota | 1 ligoje |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Neužfiksuota | 1 ligoje |
| KLC2kinesin light chain 2 | Neužfiksuota | 1 ligoje |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Neužfiksuota | 1 ligoje |
| LEMD3LEM domain containing 3 | Neužfiksuota | 1 ligoje |
| LGI4leucine rich repeat LGI family member 4 | Neužfiksuota | 1 ligoje |
| MED12mediator complex subunit 12 | Neužfiksuota | 1 ligoje |
| MPDU1mannose-P-dolichol utilization defect 1 | Neužfiksuota | 1 ligoje |
| MTM1myotubularin 1 | Neužfiksuota | 1 ligoje |
| MTMR14myotubularin related protein 14 | Neužfiksuota | 1 ligoje |
| MYL1myosin light chain 1 | Neužfiksuota | 1 ligoje |
| MYMKmyomaker, myoblast fusion factor | Neužfiksuota | 1 ligoje |
| MYO18Bmyosin XVIIIB | Neužfiksuota | 1 ligoje |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Neužfiksuota | 1 ligoje |
| NEFLneurofilament light chain | Neužfiksuota | 1 ligoje |
| NKX3-2NK3 homeobox 2 | Neužfiksuota | 1 ligoje |
| NT5C25'-nucleotidase, cytosolic II | Neužfiksuota | 1 ligoje |
| ORC1origin recognition complex subunit 1 | Neužfiksuota | 1 ligoje |
| OTUD6BOTU deubiquitinase 6B | Neužfiksuota | 1 ligoje |
| PEX7peroxisomal biogenesis factor 7 | Neužfiksuota | 1 ligoje |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Neužfiksuota | 1 ligoje |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Neužfiksuota | 1 ligoje |
| PLOD2procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 | Neužfiksuota | 1 ligoje |
| PLP1proteolipid protein 1 | Neužfiksuota | 1 ligoje |
| PMM2phosphomannomutase 2 | Neužfiksuota | 1 ligoje |
| POMKprotein O-mannose kinase | Neužfiksuota | 1 ligoje |
| POMT1protein O-mannosyltransferase 1 | Neužfiksuota | 2 ligose |
| POMT2protein O-mannosyltransferase 2 | Neužfiksuota | 1 ligoje |
| POP1POP1 ribonuclease P/MRP subunit | Neužfiksuota | 1 ligoje |
| PPT1palmitoyl-protein thioesterase 1 | Neužfiksuota | 1 ligoje |
| PSMB4proteasome 20S subunit beta 4 | Neužfiksuota | 1 ligoje |
| RAB18RAB18, member RAS oncogene family | Neužfiksuota | 1 ligoje |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Neužfiksuota | 1 ligoje |
| RNU4ATACRNA, U4atac small nuclear | Neužfiksuota | 1 ligoje |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Neužfiksuota | 1 ligoje |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Neužfiksuota | 1 ligoje |
| SGCAsarcoglycan alpha | Neužfiksuota | 1 ligoje |
| SGCGsarcoglycan gamma | Neužfiksuota | 1 ligoje |
| SIL1SIL1 nucleotide exchange factor | Neužfiksuota | 1 ligoje |
| SLC12A6solute carrier family 12 member 6 | Neužfiksuota | 1 ligoje |
| SLC1A2solute carrier family 1 member 2 | Neužfiksuota | 1 ligoje |
| SLC25A19solute carrier family 25 member 19 | Neužfiksuota | 1 ligoje |
| SLC25A46solute carrier family 25 member 46 | Neužfiksuota | 1 ligoje |
| SLC2A10solute carrier family 2 member 10 | Neužfiksuota | 1 ligoje |
| SLC6A9solute carrier family 6 member 9 | Neužfiksuota | 1 ligoje |
| SLC9A6solute carrier family 9 member A6 | Neužfiksuota | 1 ligoje |
| SPARTspartin | Neužfiksuota | 1 ligoje |
| STAC3SH3 and cysteine rich domain 3 | Neužfiksuota | 1 ligoje |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Neužfiksuota | 1 ligoje |
| TAPT1transmembrane anterior posterior transformation 1 | Neužfiksuota | 1 ligoje |
| TMEM107transmembrane protein 107 | Neužfiksuota | 1 ligoje |
| TRIP4thyroid hormone receptor interactor 4 | Neužfiksuota | 1 ligoje |
| TRPV3transient receptor potential cation channel subfamily V member 3 | Neužfiksuota | 1 ligoje |
| UBA1ubiquitin like modifier activating enzyme 1 | Neužfiksuota | 1 ligoje |
| UCHL1ubiquitin C-terminal hydrolase L1 | Neužfiksuota | 1 ligoje |
| VAMP1vesicle associated membrane protein 1 | Neužfiksuota | 1 ligoje |
| VPS53VPS53 subunit of GARP complex | Neužfiksuota | 1 ligoje |
| ZC4H2zinc finger C4H2-type containing | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
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- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.16-c6eea6bf.
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