Požymis
Hunched back
Klinikinis pavadinimas: Kyphosis
Exaggerated anterior convexity of the thoracic vertebral column.
Santrauka
- Taip pat vadinama
- Round back, Gibbus deformity, Hyperkyphosis
- 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 Hunched back, and the rest of your genome, with one test.
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Įsigyti savo Genome Test315 genų susiję su Hunched back
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Hunched back. 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 |
|---|---|---|
| ATRXATRX chromatin remodeler | Visada | 2 ligose |
| COL12A1collagen type XII alpha 1 chain | Visada | 3 ligose |
| DSTdystonin | Visada | 1 ligoje |
| DYMdymeclin | Visada | 2 ligose |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Visada | 1 ligoje |
| FBN1fibrillin 1 | Visada | 1 ligoje |
| FEM1Bfem-1 homolog B | Visada | 1 ligoje |
| FIG4FIG4 phosphoinositide 5-phosphatase | Visada | 1 ligoje |
| GLB1galactosidase beta 1 | Visada | 3 ligose |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Visada | 2 ligose |
| GPR101G protein-coupled receptor 101 | Visada | 2 ligose |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Visada | 2 ligose |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Visada | 1 ligoje |
| KDM2Blysine demethylase 2B | Visada | 1 ligoje |
| LAMA2laminin subunit alpha 2 | Visada | 1 ligoje |
| MBTPS1membrane bound transcription factor peptidase, site 1 | Visada | 1 ligoje |
| MFN2mitofusin 2 | Visada | 2 ligose |
| MMP14matrix metallopeptidase 14 | Visada | 1 ligoje |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Visada | 3 ligose |
| PLAAphospholipase A2 activating protein | Visada | 2 ligose |
| SMAD4SMAD family member 4 | Visada | 1 ligoje |
| SRSF1serine and arginine rich splicing factor 1 | Visada | 1 ligoje |
| TAF4TATA-box binding protein associated factor 4 | Visada | 1 ligoje |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Visada | 7 ligose |
| VAMP1vesicle associated membrane protein 1 | Visada | 1 ligoje |
| VPS37AVPS37A subunit of ESCRT-I | Visada | 2 ligose |
| ZMYM3zinc finger MYM-type containing 3 | Visada | 1 ligoje |
| ZNF407zinc finger protein 407 | Visada | 1 ligoje |
| ACTBactin beta | Labai dažnai (80–99%) | 2 ligose |
| AKT1AKT serine/threonine kinase 1 | Labai dažnai (80–99%) | 1 ligoje |
| 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 |
| CRLF1cytokine receptor like factor 1 | Labai dažnai (80–99%) | 1 ligoje |
| CTDP1CTD phosphatase 1 | Labai dažnai (80–99%) | 1 ligoje |
| DCCDCC netrin 1 receptor | Labai dažnai (80–99%) | 1 ligoje |
| FGFR3fibroblast growth factor receptor 3 | Labai dažnai (80–99%) | 4 ligose |
| FUCA1alpha-L-fucosidase 1 | Labai dažnai (80–99%) | 1 ligoje |
| ROBO3roundabout guidance receptor 3 | Labai dažnai (80–99%) | 1 ligoje |
Rodyti dar 275 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| RPS6KA3ribosomal protein S6 kinase A3 | Labai dažnai (80–99%) | 3 ligose |
| ZBTB20zinc finger and BTB domain containing 20 | Labai dažnai (80–99%) | 2 ligose |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Dažnai (30–79%) | 1 ligoje |
| AIPAHR interacting HSP90 co-chaperone | Dažnai (30–79%) | 2 ligose |
| ALMS1ALMS1 centrosome and basal body associated protein | Dažnai (30–79%) | 2 ligose |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Dažnai (30–79%) | 1 ligoje |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Dažnai (30–79%) | 1 ligoje |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Dažnai (30–79%) | 1 ligoje |
| CBScystathionine beta-synthase | Dažnai (30–79%) | 1 ligoje |
| CCDC22CCC complex scaffolding subunit CCDC22 | Dažnai (30–79%) | 1 ligoje |
| CCDC32coiled-coil domain containing 32 | Dažnai (30–79%) | 1 ligoje |
| CHRNGcholinergic receptor nicotinic gamma subunit | Dažnai (30–79%) | 1 ligoje |
| CLIP2CAP-Gly domain containing linker protein 2 | Dažnai (30–79%) | 1 ligoje |
| COL2A1collagen type II alpha 1 chain | Dažnai (30–79%) | 4 ligose |
| COPB1coat protein complex I subunit beta 1 | Dažnai (30–79%) | 1 ligoje |
| CPLX1complexin 1 | Dažnai (30–79%) | 2 ligose |
| CRTAPcartilage associated protein | Dažnai (30–79%) | 1 ligoje |
| CTBP1C-terminal binding protein 1 | Dažnai (30–79%) | 2 ligose |
| DICER1dicer 1, ribonuclease III | Dažnai (30–79%) | 1 ligoje |
| DLL3delta like canonical Notch ligand 3 | Dažnai (30–79%) | 1 ligoje |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Dažnai (30–79%) | 1 ligoje |
| DPYSL5dihydropyrimidinase like 5 | Dažnai (30–79%) | 1 ligoje |
| DVL3dishevelled segment polarity protein 3 | Dažnai (30–79%) | 1 ligoje |
| EBPEBP cholestenol delta-isomerase | Dažnai (30–79%) | 2 ligose |
| EIF4Heukaryotic translation initiation factor 4H | Dažnai (30–79%) | 1 ligoje |
| ELNelastin | Dažnai (30–79%) | 1 ligoje |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Dažnai (30–79%) | 3 ligose |
| EXTL3exostosin like glycosyltransferase 3 | Dažnai (30–79%) | 1 ligoje |
| FGFRL1fibroblast growth factor receptor like 1 | Dažnai (30–79%) | 1 ligoje |
| FILIP1filamin A interacting protein 1 | Dažnai (30–79%) | 1 ligoje |
| FKBP10FKBP prolyl isomerase 10 | Dažnai (30–79%) | 2 ligose |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Dažnai (30–79%) | 1 ligoje |
| FOXC2forkhead box C2 | Dažnai (30–79%) | 1 ligoje |
| FOXG1forkhead box G1 | Dažnai (30–79%) | 2 ligose |
| GTF2Igeneral transcription factor IIi | Dažnai (30–79%) | 1 ligoje |
| GTF2IRD1GTF2I repeat domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| GTF2IRD2GTF2I repeat domain containing 2 | Dažnai (30–79%) | 1 ligoje |
| GUSBglucuronidase beta | Dažnai (30–79%) | 1 ligoje |
| H4C9H4 clustered histone 9 | Dažnai (30–79%) | 1 ligoje |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Dažnai (30–79%) | 2 ligose |
| HDAC4histone deacetylase 4 | Dažnai (30–79%) | 1 ligoje |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Dažnai (30–79%) | 1 ligoje |
| HES7hes family bHLH transcription factor 7 | Dažnai (30–79%) | 1 ligoje |
| HGDhomogentisate 1,2-dioxygenase | Dažnai (30–79%) | 1 ligoje |
| HMBShydroxymethylbilane synthase | Dažnai (30–79%) | 1 ligoje |
| HS2ST1heparan sulfate 2-O-sulfotransferase 1 | Dažnai (30–79%) | 1 ligoje |
| HSPG2heparan sulfate proteoglycan 2 | Dažnai (30–79%) | 2 ligose |
| ITGAVintegrin subunit alpha V | Dažnai (30–79%) | 1 ligoje |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Dažnai (30–79%) | 1 ligoje |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Dažnai (30–79%) | 1 ligoje |
| KIF22kinesin family member 22 | Dažnai (30–79%) | 2 ligose |
| KLC2kinesin light chain 2 | Dažnai (30–79%) | 1 ligoje |
| KLHL20kelch like family member 20 | Dažnai (30–79%) | 1 ligoje |
| KMT2Clysine methyltransferase 2C | Dažnai (30–79%) | 1 ligoje |
| LBRlamin B receptor | Dažnai (30–79%) | 2 ligose |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Dažnai (30–79%) | 2 ligose |
| LFNGLFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Dažnai (30–79%) | 2 ligose |
| LIMK1LIM domain kinase 1 | Dažnai (30–79%) | 1 ligoje |
| MAGEL2MAGE family member L2 | Dažnai (30–79%) | 3 ligose |
| MESP2mesoderm posterior bHLH transcription factor 2 | Dažnai (30–79%) | 1 ligoje |
| METTL27methyltransferase like 27 | Dažnai (30–79%) | 1 ligoje |
| MGME1mitochondrial genome maintenance exonuclease 1 | Dažnai (30–79%) | 2 ligose |
| MKRN3makorin ring finger protein 3 | Dažnai (30–79%) | 1 ligoje |
| MYO1Hmyosin IH | Dažnai (30–79%) | 1 ligoje |
| NCF1neutrophil cytosolic factor 1 | Dažnai (30–79%) | 1 ligoje |
| NELFAnegative elongation factor complex member A | Dažnai (30–79%) | 1 ligoje |
| NFIXnuclear factor I X | Dažnai (30–79%) | 1 ligoje |
| NONOnon-POU domain containing octamer binding | Dažnai (30–79%) | 1 ligoje |
| NPAP1nuclear pore associated protein 1 | Dažnai (30–79%) | 1 ligoje |
| NPR2natriuretic peptide receptor 2 | Dažnai (30–79%) | 1 ligoje |
| NSD2nuclear receptor binding SET domain protein 2 | Dažnai (30–79%) | 2 ligose |
| NXNnucleoredoxin | Dažnai (30–79%) | 1 ligoje |
| P4HBprolyl 4-hydroxylase subunit beta | Dažnai (30–79%) | 1 ligoje |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Dažnai (30–79%) | 1 ligoje |
| PLAAT3phospholipase A and acyltransferase 3 | Dažnai (30–79%) | 1 ligoje |
| PLOD2procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 | Dažnai (30–79%) | 1 ligoje |
| POLD1DNA polymerase delta 1, catalytic subunit | Dažnai (30–79%) | 1 ligoje |
| PORCNporcupine O-acyltransferase | Dažnai (30–79%) | 1 ligoje |
| PPIBpeptidylprolyl isomerase B | Dažnai (30–79%) | 1 ligoje |
| PTCH1patched 1 | Dažnai (30–79%) | 1 ligoje |
| PUS1pseudouridine synthase 1 | Dažnai (30–79%) | 1 ligoje |
| PWAR1Prader Willi/Angelman region RNA 1 | Dažnai (30–79%) | 1 ligoje |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Dažnai (30–79%) | 1 ligoje |
| RAB18RAB18, member RAS oncogene family | Dažnai (30–79%) | 1 ligoje |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Dažnai (30–79%) | 1 ligoje |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Dažnai (30–79%) | 1 ligoje |
| RFC2replication factor C subunit 2 | Dažnai (30–79%) | 1 ligoje |
| RIPPLY2ripply transcriptional repressor 2 | Dažnai (30–79%) | 1 ligoje |
| ROR2ROR family WNT receptor 2 | Dažnai (30–79%) | 1 ligoje |
| SEC24DSEC24 homolog D, COPII component | Dažnai (30–79%) | 2 ligose |
| SH3PXD2BSH3 and PX domains 2B | Dažnai (30–79%) | 2 ligose |
| SHROOM4shroom family member 4 | Dažnai (30–79%) | 1 ligoje |
| SLC26A2solute carrier family 26 member 2 | Dažnai (30–79%) | 1 ligoje |
| SMSspermine synthase | Dažnai (30–79%) | 1 ligoje |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Dažnai (30–79%) | 1 ligoje |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Dažnai (30–79%) | 1 ligoje |
| SNRPBsmall nuclear ribonucleoprotein polypeptides B and B1 | Dažnai (30–79%) | 1 ligoje |
| SPRED2sprouty related EVH1 domain containing 2 | Dažnai (30–79%) | 1 ligoje |
| STX1Asyntaxin 1A | Dažnai (30–79%) | 1 ligoje |
| SVILsupervillin | Dažnai (30–79%) | 1 ligoje |
| TAF1TATA-box binding protein associated factor 1 | Dažnai (30–79%) | 1 ligoje |
| TBC1D20TBC1 domain family member 20 | Dažnai (30–79%) | 1 ligoje |
| TBL2transducin beta like 2 | Dažnai (30–79%) | 1 ligoje |
| TBX5T-box transcription factor 5 | Dažnai (30–79%) | 1 ligoje |
| TBX6T-box transcription factor 6 | Dažnai (30–79%) | 1 ligoje |
| TLK2tousled like kinase 2 | Dažnai (30–79%) | 1 ligoje |
| TMEM270transmembrane protein 270 | Dažnai (30–79%) | 1 ligoje |
| TRIOtrio Rho guanine nucleotide exchange factor | Dažnai (30–79%) | 2 ligose |
| VPS35LVPS35 endosomal protein sorting factor like | Dažnai (30–79%) | 1 ligoje |
| VPS37DVPS37D subunit of ESCRT-I | Dažnai (30–79%) | 1 ligoje |
| WASHC5WASH complex subunit 5 | Dažnai (30–79%) | 1 ligoje |
| YARS2tyrosyl-tRNA synthetase 2 | Dažnai (30–79%) | 1 ligoje |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Kartais (5–29%) | 1 ligoje |
| AEBP1AE binding protein 1 | Kartais (5–29%) | 1 ligoje |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Kartais (5–29%) | 1 ligoje |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Kartais (5–29%) | 1 ligoje |
| ANKRD11ankyrin repeat domain 11 | Kartais (5–29%) | 1 ligoje |
| APC2APC regulator of Wnt signaling pathway 2 | Kartais (5–29%) | 1 ligoje |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Kartais (5–29%) | 1 ligoje |
| ASXL2ASXL transcriptional regulator 2 | Kartais (5–29%) | 1 ligoje |
| ATP7AATPase copper transporting alpha | Kartais (5–29%) | 2 ligose |
| AUTS2activator of transcription and developmental regulator AUTS2 | Kartais (5–29%) | 2 ligose |
| BCL11ABCL11 transcription factor A | Kartais (5–29%) | 1 ligoje |
| BCORBCL6 corepressor | Kartais (5–29%) | 1 ligoje |
| BICD2BICD cargo adaptor 2 | Kartais (5–29%) | 2 ligose |
| CASZ1castor zinc finger 1 | Kartais (5–29%) | 1 ligoje |
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Kartais (5–29%) | 1 ligoje |
| CCN2cellular communication network factor 2 | Kartais (5–29%) | 1 ligoje |
| CCND1cyclin D1 | Kartais (5–29%) | 1 ligoje |
| CDKL5cyclin dependent kinase like 5 | Kartais (5–29%) | 2 ligose |
| CHD8chromodomain helicase DNA binding protein 8 | Kartais (5–29%) | 1 ligoje |
| CSF1Rcolony stimulating factor 1 receptor | Kartais (5–29%) | 1 ligoje |
| CUL4Bcullin 4B | Kartais (5–29%) | 2 ligose |
| CUL7cullin 7 | Kartais (5–29%) | 1 ligoje |
| DHCR77-dehydrocholesterol reductase | Kartais (5–29%) | 1 ligoje |
| DKK1dickkopf Wnt signaling pathway inhibitor 1 | Kartais (5–29%) | 1 ligoje |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Kartais (5–29%) | 2 ligose |
| EMDemerin | Kartais (5–29%) | 1 ligoje |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Kartais (5–29%) | 1 ligoje |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Kartais (5–29%) | 3 ligose |
| FA2Hfatty acid 2-hydroxylase | Kartais (5–29%) | 1 ligoje |
| FHL1four and a half LIM domains 1 | Kartais (5–29%) | 3 ligose |
| FLVCR1FLVCR choline and heme transporter 1 | Kartais (5–29%) | 1 ligoje |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Kartais (5–29%) | 1 ligoje |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Kartais (5–29%) | 1 ligoje |
| GBA2glucosylceramidase beta 2 | Kartais (5–29%) | 1 ligoje |
| GJB1gap junction protein beta 1 | Kartais (5–29%) | 1 ligoje |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Kartais (5–29%) | 1 ligoje |
| INPP5Kinositol polyphosphate-5-phosphatase K | Kartais (5–29%) | 1 ligoje |
| IPO8importin 8 | Kartais (5–29%) | 1 ligoje |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Kartais (5–29%) | 1 ligoje |
| LGI3leucine rich repeat LGI family member 3 | Kartais (5–29%) | 1 ligoje |
| LMNAlamin A/C | Kartais (5–29%) | 2 ligose |
| LRP5LDL receptor related protein 5 | Kartais (5–29%) | 1 ligoje |
| LUZP1leucine zipper protein 1 | Kartais (5–29%) | 1 ligoje |
| MADDMAP kinase activating death domain | Kartais (5–29%) | 1 ligoje |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Kartais (5–29%) | 1 ligoje |
| MCM3APminichromosome maintenance complex component 3 associated protein | Kartais (5–29%) | 1 ligoje |
| MECP2methyl-CpG binding protein 2 | Kartais (5–29%) | 2 ligose |
| MED25mediator complex subunit 25 | Kartais (5–29%) | 2 ligose |
| MEIS2Meis homeobox 2 | Kartais (5–29%) | 1 ligoje |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Kartais (5–29%) | 1 ligoje |
| MMP23Bmatrix metallopeptidase 23B | Kartais (5–29%) | 1 ligoje |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Kartais (5–29%) | 1 ligoje |
| NEU1neuraminidase 1 | Kartais (5–29%) | 1 ligoje |
| NF1neurofibromin 1 | Kartais (5–29%) | 2 ligose |
| NOTCH2notch receptor 2 | Kartais (5–29%) | 1 ligoje |
| NOTCH3notch receptor 3 | Kartais (5–29%) | 2 ligose |
| NSD1nuclear receptor binding SET domain protein 1 | Kartais (5–29%) | 1 ligoje |
| NTNG1netrin G1 | Kartais (5–29%) | 1 ligoje |
| NUP88nucleoporin 88 | Kartais (5–29%) | 1 ligoje |
| OBSL1obscurin like cytoskeletal adaptor 1 | Kartais (5–29%) | 1 ligoje |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Kartais (5–29%) | 2 ligose |
| PDPNpodoplanin | Kartais (5–29%) | 1 ligoje |
| PI4KAphosphatidylinositol 4-kinase alpha | Kartais (5–29%) | 1 ligoje |
| PRDM13PR/SET domain 13 | Kartais (5–29%) | 1 ligoje |
| PRDM16PR/SET domain 16 | Kartais (5–29%) | 1 ligoje |
| PRKCZprotein kinase C zeta | Kartais (5–29%) | 1 ligoje |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Kartais (5–29%) | 1 ligoje |
| PSAPprosaposin | Kartais (5–29%) | 1 ligoje |
| PTDSS1phosphatidylserine synthase 1 | Kartais (5–29%) | 1 ligoje |
| PTENphosphatase and tensin homolog | Kartais (5–29%) | 2 ligose |
| RELREL proto-oncogene, NF-kB subunit | Kartais (5–29%) | 1 ligoje |
| REREarginine-glutamic acid dipeptide repeats | Kartais (5–29%) | 1 ligoje |
| RNU12RNA, U12 small nuclear | Kartais (5–29%) | 2 ligose |
| SCAF4SR-related CTD associated factor 4 | Kartais (5–29%) | 1 ligoje |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Kartais (5–29%) | 1 ligoje |
| SH2B1SH2B adaptor protein 1 | Kartais (5–29%) | 1 ligoje |
| SIN3ASIN3 transcription regulator family member A | Kartais (5–29%) | 1 ligoje |
| SKISKI proto-oncogene | Kartais (5–29%) | 1 ligoje |
| SLC5A7solute carrier family 5 member 7 | Kartais (5–29%) | 1 ligoje |
| SMC1Astructural maintenance of chromosomes 1A | Kartais (5–29%) | 1 ligoje |
| SMC5structural maintenance of chromosomes 5 | Kartais (5–29%) | 1 ligoje |
| SOX9SRY-box transcription factor 9 | Kartais (5–29%) | 1 ligoje |
| SPENspen family transcriptional repressor | Kartais (5–29%) | 1 ligoje |
| SRD5A3steroid 5 alpha-reductase 3 | Kartais (5–29%) | 1 ligoje |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Kartais (5–29%) | 4 ligose |
| SYNE2spectrin repeat containing nuclear envelope protein 2 | Kartais (5–29%) | 1 ligoje |
| TBX2T-box transcription factor 2 | Kartais (5–29%) | 1 ligoje |
| TCF12transcription factor 12 | Kartais (5–29%) | 1 ligoje |
| TGFB1transforming growth factor beta 1 | Kartais (5–29%) | 1 ligoje |
| TMEM43transmembrane protein 43 | Kartais (5–29%) | 1 ligoje |
| TTC5tetratricopeptide repeat domain 5 | Kartais (5–29%) | 1 ligoje |
| UBE4Bubiquitination factor E4B | Kartais (5–29%) | 1 ligoje |
| UBTFupstream binding transcription factor | Kartais (5–29%) | 1 ligoje |
| UFSP2UFM1 specific peptidase 2 | Kartais (5–29%) | 1 ligoje |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Kartais (5–29%) | 1 ligoje |
| USP7ubiquitin specific peptidase 7 | Kartais (5–29%) | 1 ligoje |
| VPS13Bvacuolar protein sorting 13 homolog B | Kartais (5–29%) | 1 ligoje |
| WNT1Wnt family member 1 | Kartais (5–29%) | 1 ligoje |
| WNT3AWnt family member 3A | Kartais (5–29%) | 1 ligoje |
| XPO1exportin 1 | Kartais (5–29%) | 1 ligoje |
| ZC4H2zinc finger C4H2-type containing | Kartais (5–29%) | 3 ligose |
| ACBD6acyl-CoA binding domain containing 6 | Retai (1–4 %) | 1 ligoje |
| ACP5acid phosphatase 5, tartrate resistant | Retai (1–4 %) | 1 ligoje |
| ACTA1actin alpha 1, skeletal muscle | Retai (1–4 %) | 1 ligoje |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Retai (1–4 %) | 1 ligoje |
| CFL2cofilin 2 | Retai (1–4 %) | 1 ligoje |
| CTCFCCCTC-binding factor | Retai (1–4 %) | 1 ligoje |
| CTSKcathepsin K | Retai (1–4 %) | 1 ligoje |
| EHMT1euchromatic histone lysine methyltransferase 1 | Retai (1–4 %) | 1 ligoje |
| KLHL41kelch like family member 41 | Retai (1–4 %) | 1 ligoje |
| LMOD3leiomodin 3 | Retai (1–4 %) | 1 ligoje |
| MARK2microtubule affinity regulating kinase 2 | Retai (1–4 %) | 1 ligoje |
| NEBnebulin | Retai (1–4 %) | 1 ligoje |
| PTBP1polypyrimidine tract binding protein 1 | Retai (1–4 %) | 1 ligoje |
| SPTBN1spectrin beta, non-erythrocytic 1 | Retai (1–4 %) | 1 ligoje |
| TPM2tropomyosin 2 | Retai (1–4 %) | 1 ligoje |
| ABCC6ATP binding cassette subfamily C member 6 | Neužfiksuota | 1 ligoje |
| AGAaspartylglucosaminidase | Neužfiksuota | 1 ligoje |
| ARID1BAT-rich interaction domain 1B | Neužfiksuota | 1 ligoje |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Neužfiksuota | 1 ligoje |
| BGNbiglycan | Neužfiksuota | 1 ligoje |
| BIN1bridging integrator 1 | Neužfiksuota | 1 ligoje |
| CANT1calcium activated nucleotidase 1 | Neužfiksuota | 1 ligoje |
| CHST3carbohydrate sulfotransferase 3 | Neužfiksuota | 1 ligoje |
| COL1A1collagen type I alpha 1 chain | Neužfiksuota | 3 ligose |
| COL1A2collagen type I alpha 2 chain | Neužfiksuota | 3 ligose |
| COMPcartilage oligomeric matrix protein | Neužfiksuota | 1 ligoje |
| ERLIN2ER lipid raft associated 2 | Neužfiksuota | 1 ligoje |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Neužfiksuota | 1 ligoje |
| FKRPfukutin related protein | Neužfiksuota | 2 ligose |
| GALNSgalactosamine (N-acetyl)-6-sulfatase | Neužfiksuota | 1 ligoje |
| GLE1GLE1 RNA export mediator | Neužfiksuota | 1 ligoje |
| GNASGNAS complex locus | Neužfiksuota | 1 ligoje |
| GNPTGN-acetylglucosamine-1-phosphate transferase subunit gamma | Neužfiksuota | 1 ligoje |
| HLA-Bmajor histocompatibility complex, class I, B | Neužfiksuota | 1 ligoje |
| HTThuntingtin | Neužfiksuota | 1 ligoje |
| IDSiduronate 2-sulfatase | Neužfiksuota | 1 ligoje |
| IDUAalpha-L-iduronidase | Neužfiksuota | 2 ligose |
| KMT2Elysine methyltransferase 2E (inactive) | Neužfiksuota | 1 ligoje |
| L1CAML1 cell adhesion molecule | Neužfiksuota | 1 ligoje |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Neužfiksuota | 1 ligoje |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Neužfiksuota | 1 ligoje |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Neužfiksuota | 1 ligoje |
| P3H1prolyl 3-hydroxylase 1 | Neužfiksuota | 1 ligoje |
| PDE11Aphosphodiesterase 11A | Neužfiksuota | 1 ligoje |
| PHF6PHD finger protein 6 | Neužfiksuota | 1 ligoje |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Neužfiksuota | 1 ligoje |
| PIK3R2phosphoinositide-3-kinase regulatory subunit 2 | Neužfiksuota | 1 ligoje |
| PMM2phosphomannomutase 2 | Neužfiksuota | 1 ligoje |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Neužfiksuota | 1 ligoje |
| RETret proto-oncogene | Neužfiksuota | 1 ligoje |
| RUNX2RUNX family transcription factor 2 | Neužfiksuota | 1 ligoje |
| SETD5SET domain containing 5 | Neužfiksuota | 1 ligoje |
| SIL1SIL1 nucleotide exchange factor | Neužfiksuota | 1 ligoje |
| SLC52A3solute carrier family 52 member 3 | Neužfiksuota | 1 ligoje |
| SONSON DNA and RNA binding protein | Neužfiksuota | 1 ligoje |
| TFAP2Atranscription factor AP-2 alpha | Neužfiksuota | 1 ligoje |
| TNFRSF11BTNF receptor superfamily member 11b | Neužfiksuota | 1 ligoje |
| TOR1Atorsin family 1 member A | Neužfiksuota | 1 ligoje |
| TPI1triosephosphate isomerase 1 | Neužfiksuota | 1 ligoje |
| TRAPPC2trafficking protein particle complex subunit 2 | Neužfiksuota | 1 ligoje |
| USP8ubiquitin specific peptidase 8 | Neužfiksuota | 1 ligoje |
| WIPI2WD repeat domain, phosphoinositide interacting 2 | 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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Iš kur tai žinoma
- 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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