Cecha
Hunched back
Nazwa kliniczna: Kyphosis
Exaggerated anterior convexity of the thoracic vertebral column.
Podsumowanie
- Znana także jako
- Round back, Gibbus deformity, Hyperkyphosis
- Układ organizmu
- Abnormality of the musculoskeletal system
Genom referencyjnyGRCh38hg38
Pozycje na stronach genów i wariantów zależą od tego wyboru, w tej przeglądarce.
Read the genes linked to Hunched back, and the rest of your genome, with one test.
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Zamawiam Genome Test315 genów powiązanych z Hunched back
Zmiany w tych genach powodują rzadkie choroby, w których występuje Hunched back. 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 |
|---|---|---|
| ATRXATRX chromatin remodeler | Zawsze | W 2 chorobach |
| COL12A1collagen type XII alpha 1 chain | Zawsze | W 3 chorobach |
| DSTdystonin | Zawsze | W 1 chorobie |
| DYMdymeclin | Zawsze | W 2 chorobach |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Zawsze | W 1 chorobie |
| FBN1fibrillin 1 | Zawsze | W 1 chorobie |
| FEM1Bfem-1 homolog B | Zawsze | W 1 chorobie |
| FIG4FIG4 phosphoinositide 5-phosphatase | Zawsze | W 1 chorobie |
| GLB1galactosidase beta 1 | Zawsze | W 3 chorobach |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Zawsze | W 2 chorobach |
| GPR101G protein-coupled receptor 101 | Zawsze | W 2 chorobach |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Zawsze | W 2 chorobach |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Zawsze | W 1 chorobie |
| KDM2Blysine demethylase 2B | Zawsze | W 1 chorobie |
| LAMA2laminin subunit alpha 2 | Zawsze | W 1 chorobie |
| MBTPS1membrane bound transcription factor peptidase, site 1 | Zawsze | W 1 chorobie |
| MFN2mitofusin 2 | Zawsze | W 2 chorobach |
| MMP14matrix metallopeptidase 14 | Zawsze | W 1 chorobie |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Zawsze | W 3 chorobach |
| PLAAphospholipase A2 activating protein | Zawsze | W 2 chorobach |
| SMAD4SMAD family member 4 | Zawsze | W 1 chorobie |
| SRSF1serine and arginine rich splicing factor 1 | Zawsze | W 1 chorobie |
| TAF4TATA-box binding protein associated factor 4 | Zawsze | W 1 chorobie |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Zawsze | W 7 chorobach |
| VAMP1vesicle associated membrane protein 1 | Zawsze | W 1 chorobie |
| VPS37AVPS37A subunit of ESCRT-I | Zawsze | W 2 chorobach |
| ZMYM3zinc finger MYM-type containing 3 | Zawsze | W 1 chorobie |
| ZNF407zinc finger protein 407 | Zawsze | W 1 chorobie |
| ACTBactin beta | Bardzo często (80–99%) | W 2 chorobach |
| AKT1AKT serine/threonine kinase 1 | Bardzo często (80–99%) | W 1 chorobie |
| 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 |
| CRLF1cytokine receptor like factor 1 | Bardzo często (80–99%) | W 1 chorobie |
| CTDP1CTD phosphatase 1 | Bardzo często (80–99%) | W 1 chorobie |
| DCCDCC netrin 1 receptor | Bardzo często (80–99%) | W 1 chorobie |
| FGFR3fibroblast growth factor receptor 3 | Bardzo często (80–99%) | W 4 chorobach |
| FUCA1alpha-L-fucosidase 1 | Bardzo często (80–99%) | W 1 chorobie |
| ROBO3roundabout guidance receptor 3 | Bardzo często (80–99%) | W 1 chorobie |
Pokaż jeszcze 275 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| RPS6KA3ribosomal protein S6 kinase A3 | Bardzo często (80–99%) | W 3 chorobach |
| ZBTB20zinc finger and BTB domain containing 20 | Bardzo często (80–99%) | W 2 chorobach |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Często (30–79%) | W 1 chorobie |
| AIPAHR interacting HSP90 co-chaperone | Często (30–79%) | W 2 chorobach |
| ALMS1ALMS1 centrosome and basal body associated protein | Często (30–79%) | W 2 chorobach |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Często (30–79%) | W 1 chorobie |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Często (30–79%) | W 1 chorobie |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Często (30–79%) | W 1 chorobie |
| CBScystathionine beta-synthase | Często (30–79%) | W 1 chorobie |
| CCDC22CCC complex scaffolding subunit CCDC22 | Często (30–79%) | W 1 chorobie |
| CCDC32coiled-coil domain containing 32 | Często (30–79%) | W 1 chorobie |
| CHRNGcholinergic receptor nicotinic gamma subunit | Często (30–79%) | W 1 chorobie |
| CLIP2CAP-Gly domain containing linker protein 2 | Często (30–79%) | W 1 chorobie |
| COL2A1collagen type II alpha 1 chain | Często (30–79%) | W 4 chorobach |
| COPB1coat protein complex I subunit beta 1 | Często (30–79%) | W 1 chorobie |
| CPLX1complexin 1 | Często (30–79%) | W 2 chorobach |
| CRTAPcartilage associated protein | Często (30–79%) | W 1 chorobie |
| CTBP1C-terminal binding protein 1 | Często (30–79%) | W 2 chorobach |
| DICER1dicer 1, ribonuclease III | Często (30–79%) | W 1 chorobie |
| DLL3delta like canonical Notch ligand 3 | Często (30–79%) | W 1 chorobie |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Często (30–79%) | W 1 chorobie |
| DPYSL5dihydropyrimidinase like 5 | Często (30–79%) | W 1 chorobie |
| DVL3dishevelled segment polarity protein 3 | Często (30–79%) | W 1 chorobie |
| EBPEBP cholestenol delta-isomerase | Często (30–79%) | W 2 chorobach |
| EIF4Heukaryotic translation initiation factor 4H | Często (30–79%) | W 1 chorobie |
| ELNelastin | Często (30–79%) | W 1 chorobie |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Często (30–79%) | W 3 chorobach |
| EXTL3exostosin like glycosyltransferase 3 | Często (30–79%) | W 1 chorobie |
| FGFRL1fibroblast growth factor receptor like 1 | Często (30–79%) | W 1 chorobie |
| FILIP1filamin A interacting protein 1 | Często (30–79%) | W 1 chorobie |
| FKBP10FKBP prolyl isomerase 10 | Często (30–79%) | W 2 chorobach |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Często (30–79%) | W 1 chorobie |
| FOXC2forkhead box C2 | Często (30–79%) | W 1 chorobie |
| FOXG1forkhead box G1 | Często (30–79%) | W 2 chorobach |
| GTF2Igeneral transcription factor IIi | Często (30–79%) | W 1 chorobie |
| GTF2IRD1GTF2I repeat domain containing 1 | Często (30–79%) | W 1 chorobie |
| GTF2IRD2GTF2I repeat domain containing 2 | Często (30–79%) | W 1 chorobie |
| GUSBglucuronidase beta | Często (30–79%) | W 1 chorobie |
| H4C9H4 clustered histone 9 | Często (30–79%) | W 1 chorobie |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Często (30–79%) | W 2 chorobach |
| HDAC4histone deacetylase 4 | Często (30–79%) | W 1 chorobie |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Często (30–79%) | W 1 chorobie |
| HES7hes family bHLH transcription factor 7 | Często (30–79%) | W 1 chorobie |
| HGDhomogentisate 1,2-dioxygenase | Często (30–79%) | W 1 chorobie |
| HMBShydroxymethylbilane synthase | Często (30–79%) | W 1 chorobie |
| HS2ST1heparan sulfate 2-O-sulfotransferase 1 | Często (30–79%) | W 1 chorobie |
| HSPG2heparan sulfate proteoglycan 2 | Często (30–79%) | W 2 chorobach |
| ITGAVintegrin subunit alpha V | Często (30–79%) | W 1 chorobie |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Często (30–79%) | W 1 chorobie |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Często (30–79%) | W 1 chorobie |
| KIF22kinesin family member 22 | Często (30–79%) | W 2 chorobach |
| KLC2kinesin light chain 2 | Często (30–79%) | W 1 chorobie |
| KLHL20kelch like family member 20 | Często (30–79%) | W 1 chorobie |
| KMT2Clysine methyltransferase 2C | Często (30–79%) | W 1 chorobie |
| LBRlamin B receptor | Często (30–79%) | W 2 chorobach |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Często (30–79%) | W 2 chorobach |
| LFNGLFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Często (30–79%) | W 2 chorobach |
| LIMK1LIM domain kinase 1 | Często (30–79%) | W 1 chorobie |
| MAGEL2MAGE family member L2 | Często (30–79%) | W 3 chorobach |
| MESP2mesoderm posterior bHLH transcription factor 2 | Często (30–79%) | W 1 chorobie |
| METTL27methyltransferase like 27 | Często (30–79%) | W 1 chorobie |
| MGME1mitochondrial genome maintenance exonuclease 1 | Często (30–79%) | W 2 chorobach |
| MKRN3makorin ring finger protein 3 | Często (30–79%) | W 1 chorobie |
| MYO1Hmyosin IH | Często (30–79%) | W 1 chorobie |
| NCF1neutrophil cytosolic factor 1 | Często (30–79%) | W 1 chorobie |
| NELFAnegative elongation factor complex member A | Często (30–79%) | W 1 chorobie |
| NFIXnuclear factor I X | Często (30–79%) | W 1 chorobie |
| NONOnon-POU domain containing octamer binding | Często (30–79%) | W 1 chorobie |
| NPAP1nuclear pore associated protein 1 | Często (30–79%) | W 1 chorobie |
| NPR2natriuretic peptide receptor 2 | Często (30–79%) | W 1 chorobie |
| NSD2nuclear receptor binding SET domain protein 2 | Często (30–79%) | W 2 chorobach |
| NXNnucleoredoxin | Często (30–79%) | W 1 chorobie |
| P4HBprolyl 4-hydroxylase subunit beta | Często (30–79%) | W 1 chorobie |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Często (30–79%) | W 1 chorobie |
| PLAAT3phospholipase A and acyltransferase 3 | Często (30–79%) | W 1 chorobie |
| PLOD2procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 | Często (30–79%) | W 1 chorobie |
| POLD1DNA polymerase delta 1, catalytic subunit | Często (30–79%) | W 1 chorobie |
| PORCNporcupine O-acyltransferase | Często (30–79%) | W 1 chorobie |
| PPIBpeptidylprolyl isomerase B | Często (30–79%) | W 1 chorobie |
| PTCH1patched 1 | Często (30–79%) | W 1 chorobie |
| PUS1pseudouridine synthase 1 | Często (30–79%) | W 1 chorobie |
| PWAR1Prader Willi/Angelman region RNA 1 | Często (30–79%) | W 1 chorobie |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Często (30–79%) | W 1 chorobie |
| RAB18RAB18, member RAS oncogene family | Często (30–79%) | W 1 chorobie |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Często (30–79%) | W 1 chorobie |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Często (30–79%) | W 1 chorobie |
| RFC2replication factor C subunit 2 | Często (30–79%) | W 1 chorobie |
| RIPPLY2ripply transcriptional repressor 2 | Często (30–79%) | W 1 chorobie |
| ROR2ROR family WNT receptor 2 | Często (30–79%) | W 1 chorobie |
| SEC24DSEC24 homolog D, COPII component | Często (30–79%) | W 2 chorobach |
| SH3PXD2BSH3 and PX domains 2B | Często (30–79%) | W 2 chorobach |
| SHROOM4shroom family member 4 | Często (30–79%) | W 1 chorobie |
| SLC26A2solute carrier family 26 member 2 | Często (30–79%) | W 1 chorobie |
| SMSspermine synthase | Często (30–79%) | W 1 chorobie |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Często (30–79%) | W 1 chorobie |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Często (30–79%) | W 1 chorobie |
| SNRPBsmall nuclear ribonucleoprotein polypeptides B and B1 | Często (30–79%) | W 1 chorobie |
| SPRED2sprouty related EVH1 domain containing 2 | Często (30–79%) | W 1 chorobie |
| STX1Asyntaxin 1A | Często (30–79%) | W 1 chorobie |
| SVILsupervillin | Często (30–79%) | W 1 chorobie |
| TAF1TATA-box binding protein associated factor 1 | Często (30–79%) | W 1 chorobie |
| TBC1D20TBC1 domain family member 20 | Często (30–79%) | W 1 chorobie |
| TBL2transducin beta like 2 | Często (30–79%) | W 1 chorobie |
| TBX5T-box transcription factor 5 | Często (30–79%) | W 1 chorobie |
| TBX6T-box transcription factor 6 | Często (30–79%) | W 1 chorobie |
| TLK2tousled like kinase 2 | Często (30–79%) | W 1 chorobie |
| TMEM270transmembrane protein 270 | Często (30–79%) | W 1 chorobie |
| TRIOtrio Rho guanine nucleotide exchange factor | Często (30–79%) | W 2 chorobach |
| VPS35LVPS35 endosomal protein sorting factor like | Często (30–79%) | W 1 chorobie |
| VPS37DVPS37D subunit of ESCRT-I | Często (30–79%) | W 1 chorobie |
| WASHC5WASH complex subunit 5 | Często (30–79%) | W 1 chorobie |
| YARS2tyrosyl-tRNA synthetase 2 | Często (30–79%) | W 1 chorobie |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Czasami (5–29%) | W 1 chorobie |
| AEBP1AE binding protein 1 | Czasami (5–29%) | W 1 chorobie |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Czasami (5–29%) | W 1 chorobie |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Czasami (5–29%) | W 1 chorobie |
| ANKRD11ankyrin repeat domain 11 | Czasami (5–29%) | W 1 chorobie |
| APC2APC regulator of Wnt signaling pathway 2 | Czasami (5–29%) | W 1 chorobie |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Czasami (5–29%) | W 1 chorobie |
| ASXL2ASXL transcriptional regulator 2 | Czasami (5–29%) | W 1 chorobie |
| ATP7AATPase copper transporting alpha | Czasami (5–29%) | W 2 chorobach |
| AUTS2activator of transcription and developmental regulator AUTS2 | Czasami (5–29%) | W 2 chorobach |
| BCL11ABCL11 transcription factor A | Czasami (5–29%) | W 1 chorobie |
| BCORBCL6 corepressor | Czasami (5–29%) | W 1 chorobie |
| BICD2BICD cargo adaptor 2 | Czasami (5–29%) | W 2 chorobach |
| CASZ1castor zinc finger 1 | Czasami (5–29%) | W 1 chorobie |
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Czasami (5–29%) | W 1 chorobie |
| CCN2cellular communication network factor 2 | Czasami (5–29%) | W 1 chorobie |
| CCND1cyclin D1 | Czasami (5–29%) | W 1 chorobie |
| CDKL5cyclin dependent kinase like 5 | Czasami (5–29%) | W 2 chorobach |
| CHD8chromodomain helicase DNA binding protein 8 | Czasami (5–29%) | W 1 chorobie |
| CSF1Rcolony stimulating factor 1 receptor | Czasami (5–29%) | W 1 chorobie |
| CUL4Bcullin 4B | Czasami (5–29%) | W 2 chorobach |
| CUL7cullin 7 | Czasami (5–29%) | W 1 chorobie |
| DHCR77-dehydrocholesterol reductase | Czasami (5–29%) | W 1 chorobie |
| DKK1dickkopf Wnt signaling pathway inhibitor 1 | Czasami (5–29%) | W 1 chorobie |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Czasami (5–29%) | W 2 chorobach |
| EMDemerin | Czasami (5–29%) | W 1 chorobie |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Czasami (5–29%) | W 1 chorobie |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Czasami (5–29%) | W 3 chorobach |
| FA2Hfatty acid 2-hydroxylase | Czasami (5–29%) | W 1 chorobie |
| FHL1four and a half LIM domains 1 | Czasami (5–29%) | W 3 chorobach |
| FLVCR1FLVCR choline and heme transporter 1 | Czasami (5–29%) | W 1 chorobie |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Czasami (5–29%) | W 1 chorobie |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Czasami (5–29%) | W 1 chorobie |
| GBA2glucosylceramidase beta 2 | Czasami (5–29%) | W 1 chorobie |
| GJB1gap junction protein beta 1 | Czasami (5–29%) | W 1 chorobie |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Czasami (5–29%) | W 1 chorobie |
| INPP5Kinositol polyphosphate-5-phosphatase K | Czasami (5–29%) | W 1 chorobie |
| IPO8importin 8 | Czasami (5–29%) | W 1 chorobie |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Czasami (5–29%) | W 1 chorobie |
| LGI3leucine rich repeat LGI family member 3 | Czasami (5–29%) | W 1 chorobie |
| LMNAlamin A/C | Czasami (5–29%) | W 2 chorobach |
| LRP5LDL receptor related protein 5 | Czasami (5–29%) | W 1 chorobie |
| LUZP1leucine zipper protein 1 | Czasami (5–29%) | W 1 chorobie |
| MADDMAP kinase activating death domain | Czasami (5–29%) | W 1 chorobie |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Czasami (5–29%) | W 1 chorobie |
| MCM3APminichromosome maintenance complex component 3 associated protein | Czasami (5–29%) | W 1 chorobie |
| MECP2methyl-CpG binding protein 2 | Czasami (5–29%) | W 2 chorobach |
| MED25mediator complex subunit 25 | Czasami (5–29%) | W 2 chorobach |
| MEIS2Meis homeobox 2 | Czasami (5–29%) | W 1 chorobie |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Czasami (5–29%) | W 1 chorobie |
| MMP23Bmatrix metallopeptidase 23B | Czasami (5–29%) | W 1 chorobie |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Czasami (5–29%) | W 1 chorobie |
| NEU1neuraminidase 1 | Czasami (5–29%) | W 1 chorobie |
| NF1neurofibromin 1 | Czasami (5–29%) | W 2 chorobach |
| NOTCH2notch receptor 2 | Czasami (5–29%) | W 1 chorobie |
| NOTCH3notch receptor 3 | Czasami (5–29%) | W 2 chorobach |
| NSD1nuclear receptor binding SET domain protein 1 | Czasami (5–29%) | W 1 chorobie |
| NTNG1netrin G1 | Czasami (5–29%) | W 1 chorobie |
| NUP88nucleoporin 88 | Czasami (5–29%) | W 1 chorobie |
| OBSL1obscurin like cytoskeletal adaptor 1 | Czasami (5–29%) | W 1 chorobie |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Czasami (5–29%) | W 2 chorobach |
| PDPNpodoplanin | Czasami (5–29%) | W 1 chorobie |
| PI4KAphosphatidylinositol 4-kinase alpha | Czasami (5–29%) | W 1 chorobie |
| PRDM13PR/SET domain 13 | Czasami (5–29%) | W 1 chorobie |
| PRDM16PR/SET domain 16 | Czasami (5–29%) | W 1 chorobie |
| PRKCZprotein kinase C zeta | Czasami (5–29%) | W 1 chorobie |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Czasami (5–29%) | W 1 chorobie |
| PSAPprosaposin | Czasami (5–29%) | W 1 chorobie |
| PTDSS1phosphatidylserine synthase 1 | Czasami (5–29%) | W 1 chorobie |
| PTENphosphatase and tensin homolog | Czasami (5–29%) | W 2 chorobach |
| RELREL proto-oncogene, NF-kB subunit | Czasami (5–29%) | W 1 chorobie |
| REREarginine-glutamic acid dipeptide repeats | Czasami (5–29%) | W 1 chorobie |
| RNU12RNA, U12 small nuclear | Czasami (5–29%) | W 2 chorobach |
| SCAF4SR-related CTD associated factor 4 | Czasami (5–29%) | W 1 chorobie |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Czasami (5–29%) | W 1 chorobie |
| SH2B1SH2B adaptor protein 1 | Czasami (5–29%) | W 1 chorobie |
| SIN3ASIN3 transcription regulator family member A | Czasami (5–29%) | W 1 chorobie |
| SKISKI proto-oncogene | Czasami (5–29%) | W 1 chorobie |
| SLC5A7solute carrier family 5 member 7 | Czasami (5–29%) | W 1 chorobie |
| SMC1Astructural maintenance of chromosomes 1A | Czasami (5–29%) | W 1 chorobie |
| SMC5structural maintenance of chromosomes 5 | Czasami (5–29%) | W 1 chorobie |
| SOX9SRY-box transcription factor 9 | Czasami (5–29%) | W 1 chorobie |
| SPENspen family transcriptional repressor | Czasami (5–29%) | W 1 chorobie |
| SRD5A3steroid 5 alpha-reductase 3 | Czasami (5–29%) | W 1 chorobie |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Czasami (5–29%) | W 4 chorobach |
| SYNE2spectrin repeat containing nuclear envelope protein 2 | Czasami (5–29%) | W 1 chorobie |
| TBX2T-box transcription factor 2 | Czasami (5–29%) | W 1 chorobie |
| TCF12transcription factor 12 | Czasami (5–29%) | W 1 chorobie |
| TGFB1transforming growth factor beta 1 | Czasami (5–29%) | W 1 chorobie |
| TMEM43transmembrane protein 43 | Czasami (5–29%) | W 1 chorobie |
| TTC5tetratricopeptide repeat domain 5 | Czasami (5–29%) | W 1 chorobie |
| UBE4Bubiquitination factor E4B | Czasami (5–29%) | W 1 chorobie |
| UBTFupstream binding transcription factor | Czasami (5–29%) | W 1 chorobie |
| UFSP2UFM1 specific peptidase 2 | Czasami (5–29%) | W 1 chorobie |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Czasami (5–29%) | W 1 chorobie |
| USP7ubiquitin specific peptidase 7 | Czasami (5–29%) | W 1 chorobie |
| VPS13Bvacuolar protein sorting 13 homolog B | Czasami (5–29%) | W 1 chorobie |
| WNT1Wnt family member 1 | Czasami (5–29%) | W 1 chorobie |
| WNT3AWnt family member 3A | Czasami (5–29%) | W 1 chorobie |
| XPO1exportin 1 | Czasami (5–29%) | W 1 chorobie |
| ZC4H2zinc finger C4H2-type containing | Czasami (5–29%) | W 3 chorobach |
| ACBD6acyl-CoA binding domain containing 6 | Rzadko (1–4%) | W 1 chorobie |
| ACP5acid phosphatase 5, tartrate resistant | Rzadko (1–4%) | W 1 chorobie |
| ACTA1actin alpha 1, skeletal muscle | Rzadko (1–4%) | W 1 chorobie |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Rzadko (1–4%) | W 1 chorobie |
| CFL2cofilin 2 | Rzadko (1–4%) | W 1 chorobie |
| CTCFCCCTC-binding factor | Rzadko (1–4%) | W 1 chorobie |
| CTSKcathepsin K | Rzadko (1–4%) | W 1 chorobie |
| EHMT1euchromatic histone lysine methyltransferase 1 | Rzadko (1–4%) | W 1 chorobie |
| KLHL41kelch like family member 41 | Rzadko (1–4%) | W 1 chorobie |
| LMOD3leiomodin 3 | Rzadko (1–4%) | W 1 chorobie |
| MARK2microtubule affinity regulating kinase 2 | Rzadko (1–4%) | W 1 chorobie |
| NEBnebulin | Rzadko (1–4%) | W 1 chorobie |
| PTBP1polypyrimidine tract binding protein 1 | Rzadko (1–4%) | W 1 chorobie |
| SPTBN1spectrin beta, non-erythrocytic 1 | Rzadko (1–4%) | W 1 chorobie |
| TPM2tropomyosin 2 | Rzadko (1–4%) | W 1 chorobie |
| ABCC6ATP binding cassette subfamily C member 6 | Nie odnotowano | W 1 chorobie |
| AGAaspartylglucosaminidase | Nie odnotowano | W 1 chorobie |
| ARID1BAT-rich interaction domain 1B | Nie odnotowano | W 1 chorobie |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Nie odnotowano | W 1 chorobie |
| BGNbiglycan | Nie odnotowano | W 1 chorobie |
| BIN1bridging integrator 1 | Nie odnotowano | W 1 chorobie |
| CANT1calcium activated nucleotidase 1 | Nie odnotowano | W 1 chorobie |
| CHST3carbohydrate sulfotransferase 3 | Nie odnotowano | W 1 chorobie |
| COL1A1collagen type I alpha 1 chain | Nie odnotowano | W 3 chorobach |
| COL1A2collagen type I alpha 2 chain | Nie odnotowano | W 3 chorobach |
| COMPcartilage oligomeric matrix protein | Nie odnotowano | W 1 chorobie |
| ERLIN2ER lipid raft associated 2 | Nie odnotowano | W 1 chorobie |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Nie odnotowano | W 1 chorobie |
| FKRPfukutin related protein | Nie odnotowano | W 2 chorobach |
| GALNSgalactosamine (N-acetyl)-6-sulfatase | Nie odnotowano | W 1 chorobie |
| GLE1GLE1 RNA export mediator | Nie odnotowano | W 1 chorobie |
| GNASGNAS complex locus | Nie odnotowano | W 1 chorobie |
| GNPTGN-acetylglucosamine-1-phosphate transferase subunit gamma | Nie odnotowano | W 1 chorobie |
| HLA-Bmajor histocompatibility complex, class I, B | Nie odnotowano | W 1 chorobie |
| HTThuntingtin | Nie odnotowano | W 1 chorobie |
| IDSiduronate 2-sulfatase | Nie odnotowano | W 1 chorobie |
| IDUAalpha-L-iduronidase | Nie odnotowano | W 2 chorobach |
| KMT2Elysine methyltransferase 2E (inactive) | Nie odnotowano | W 1 chorobie |
| L1CAML1 cell adhesion molecule | Nie odnotowano | W 1 chorobie |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Nie odnotowano | W 1 chorobie |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Nie odnotowano | W 1 chorobie |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Nie odnotowano | W 1 chorobie |
| P3H1prolyl 3-hydroxylase 1 | Nie odnotowano | W 1 chorobie |
| PDE11Aphosphodiesterase 11A | Nie odnotowano | W 1 chorobie |
| PHF6PHD finger protein 6 | Nie odnotowano | W 1 chorobie |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Nie odnotowano | W 1 chorobie |
| PIK3R2phosphoinositide-3-kinase regulatory subunit 2 | Nie odnotowano | W 1 chorobie |
| PMM2phosphomannomutase 2 | Nie odnotowano | W 1 chorobie |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Nie odnotowano | W 1 chorobie |
| RETret proto-oncogene | Nie odnotowano | W 1 chorobie |
| RUNX2RUNX family transcription factor 2 | Nie odnotowano | W 1 chorobie |
| SETD5SET domain containing 5 | Nie odnotowano | W 1 chorobie |
| SIL1SIL1 nucleotide exchange factor | Nie odnotowano | W 1 chorobie |
| SLC52A3solute carrier family 52 member 3 | Nie odnotowano | W 1 chorobie |
| SONSON DNA and RNA binding protein | Nie odnotowano | W 1 chorobie |
| TFAP2Atranscription factor AP-2 alpha | Nie odnotowano | W 1 chorobie |
| TNFRSF11BTNF receptor superfamily member 11b | Nie odnotowano | W 1 chorobie |
| TOR1Atorsin family 1 member A | Nie odnotowano | W 1 chorobie |
| TPI1triosephosphate isomerase 1 | Nie odnotowano | W 1 chorobie |
| TRAPPC2trafficking protein particle complex subunit 2 | Nie odnotowano | W 1 chorobie |
| USP8ubiquitin specific peptidase 8 | Nie odnotowano | W 1 chorobie |
| WIPI2WD repeat domain, phosphoinositide interacting 2 | 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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