Cecha
Dropped arches
Nazwa kliniczna: Pes planus
A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.
Podsumowanie
- Znana także jako
- Fallen arches, Flat feet, Flat foot
- Układ organizmu
- Abnormality of limbs
Genom referencyjnyGRCh38hg38
Pozycje na stronach genów i wariantów zależą od tego wyboru, w tej przeglądarce.
Read the genes linked to Dropped arches, and the rest of your genome, with one test.
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Zamawiam Genome Test397 genów powiązanych z Dropped arches
Zmiany w tych genach powodują rzadkie choroby, w których występuje Dropped arches. 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 |
|---|---|---|
| AEBP1AE binding protein 1 | Zawsze | W 2 chorobach |
| AMOTL1angiomotin like 1 | Zawsze | W 1 chorobie |
| ATCAYATCAY kinesin light chain interacting caytaxin | Zawsze | W 1 chorobie |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Zawsze | W 3 chorobach |
| CILK1ciliogenesis associated kinase 1 | Zawsze | W 1 chorobie |
| COL1A1collagen type I alpha 1 chain | Zawsze | W 2 chorobach |
| COL9A3collagen type IX alpha 3 chain | Zawsze | W 1 chorobie |
| COMPcartilage oligomeric matrix protein | Zawsze | W 1 chorobie |
| CUL7cullin 7 | Zawsze | W 1 chorobie |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Zawsze | W 1 chorobie |
| EGR2early growth response 2 | Zawsze | W 1 chorobie |
| ERI1exoribonuclease 1 | Zawsze | W 1 chorobie |
| FAM177A1family with sequence similarity 177 member A1 | Zawsze | W 1 chorobie |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Zawsze | W 2 chorobach |
| FKBP14FKBP prolyl isomerase 14 | Zawsze | W 2 chorobach |
| GNPTGN-acetylglucosamine-1-phosphate transferase subunit gamma | Zawsze | W 1 chorobie |
| GON4Lgon-4 like | Zawsze | W 1 chorobie |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Zawsze | W 1 chorobie |
| H4C11H4 clustered histone 11 | Zawsze | W 1 chorobie |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Zawsze | W 2 chorobach |
| HOXA13homeobox A13 | Zawsze | W 1 chorobie |
| JKAMPJNK1/MAPK8 associated membrane protein | Zawsze | W 1 chorobie |
| KDM2Blysine demethylase 2B | Zawsze | W 1 chorobie |
| KDM6Blysine demethylase 6B | Zawsze | W 1 chorobie |
| KMT2Alysine methyltransferase 2A | Zawsze | W 1 chorobie |
| L1CAML1 cell adhesion molecule | Zawsze | W 1 chorobie |
| MED16mediator complex subunit 16 | Zawsze | W 1 chorobie |
| METTL23methyltransferase 23, arginine | Zawsze | W 1 chorobie |
| MPV17mitochondrial inner membrane protein MPV17 | Zawsze | W 1 chorobie |
| MPZmyelin protein zero | Zawsze | W 2 chorobach |
| NDUFAF6NADH:ubiquinone oxidoreductase complex assembly factor 6 | Zawsze | W 1 chorobie |
| NONOnon-POU domain containing octamer binding | Zawsze | W 2 chorobach |
| PMP22peripheral myelin protein 22 | Zawsze | W 1 chorobie |
| PPIBpeptidylprolyl isomerase B | Zawsze | W 1 chorobie |
| PRXperiaxin | Zawsze | W 1 chorobie |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Zawsze | W 1 chorobie |
| PYCR1pyrroline-5-carboxylate reductase 1 | Zawsze | W 3 chorobach |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Zawsze | W 1 chorobie |
| RBSNrabenosyn, RAB effector | Zawsze | W 1 chorobie |
| RIN2Ras and Rab interactor 2 | Zawsze | W 2 chorobach |
Pokaż jeszcze 357 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| RNU2-2RNA, U2 small nuclear 2 | Zawsze | W 1 chorobie |
| SBF1SET binding factor 1 | Zawsze | W 1 chorobie |
| SCAF4SR-related CTD associated factor 4 | Zawsze | W 1 chorobie |
| SCARF2scavenger receptor class F member 2 | Zawsze | W 1 chorobie |
| SLC13A1solute carrier family 13 member 1 | Zawsze | W 1 chorobie |
| SLC37A4solute carrier family 37 member 4 | Zawsze | W 1 chorobie |
| SPIN4spindlin family member 4 | Zawsze | W 1 chorobie |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Zawsze | W 1 chorobie |
| TAF4TATA-box binding protein associated factor 4 | Zawsze | W 1 chorobie |
| TCF4transcription factor 4 | Zawsze | W 2 chorobach |
| TGFBR1transforming growth factor beta receptor 1 | Zawsze | W 3 chorobach |
| TMCO1transmembrane and coiled-coil domains 1 | Zawsze | W 1 chorobie |
| TRMT1tRNA methyltransferase 1 | Zawsze | W 1 chorobie |
| UBAP2Lubiquitin associated protein 2 like | Zawsze | W 1 chorobie |
| UBE2Aubiquitin conjugating enzyme E2 A | Zawsze | W 1 chorobie |
| UNC13Aunc-13 homolog A | Zawsze | W 1 chorobie |
| VLDLRvery low density lipoprotein receptor | Zawsze | W 1 chorobie |
| WSB2WD repeat and SOCS box containing 2 | Zawsze | W 1 chorobie |
| XYLT2xylosyltransferase 2 | Zawsze | W 2 chorobach |
| B4GALT7beta-1,4-galactosyltransferase 7 | Bardzo często (80–99%) | W 2 chorobach |
| FBN1fibrillin 1 | Bardzo często (80–99%) | W 4 chorobach |
| FMR1fragile X messenger ribonucleoprotein 1 | Bardzo często (80–99%) | W 2 chorobach |
| HDAC8histone deacetylase 8 | Bardzo często (80–99%) | W 1 chorobie |
| HSPG2heparan sulfate proteoglycan 2 | Bardzo często (80–99%) | W 2 chorobach |
| IPO8importin 8 | Bardzo często (80–99%) | W 2 chorobach |
| KAT6Alysine acetyltransferase 6A | Bardzo często (80–99%) | W 1 chorobie |
| LAS1LLAS1 like ribosome biogenesis factor | Bardzo często (80–99%) | W 2 chorobach |
| LMNAlamin A/C | Bardzo często (80–99%) | W 1 chorobie |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Bardzo często (80–99%) | W 1 chorobie |
| SKISKI proto-oncogene | Bardzo często (80–99%) | W 2 chorobach |
| SMAD2SMAD family member 2 | Bardzo często (80–99%) | W 3 chorobach |
| SMAD3SMAD family member 3 | Bardzo często (80–99%) | W 4 chorobach |
| TBL1XR1TBL1X/Y related 1 | Bardzo często (80–99%) | W 1 chorobie |
| TGFB2transforming growth factor beta 2 | Bardzo często (80–99%) | W 3 chorobach |
| TGFB3transforming growth factor beta 3 | Bardzo często (80–99%) | W 3 chorobach |
| TGFBR2transforming growth factor beta receptor 2 | Bardzo często (80–99%) | W 3 chorobach |
| ADNPactivity dependent neuroprotector homeobox | Często (30–79%) | W 1 chorobie |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Często (30–79%) | W 1 chorobie |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Często (30–79%) | W 2 chorobach |
| ALMS1ALMS1 centrosome and basal body associated protein | Często (30–79%) | W 2 chorobach |
| ARHGAP19Rho GTPase activating protein 19 | Często (30–79%) | W 1 chorobie |
| ARXaristaless related homeobox | Często (30–79%) | W 1 chorobie |
| ASPHaspartate beta-hydroxylase | Często (30–79%) | W 1 chorobie |
| B3GALT6beta-1,3-galactosyltransferase 6 | Często (30–79%) | W 1 chorobie |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Często (30–79%) | W 1 chorobie |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Często (30–79%) | W 1 chorobie |
| BCRBCR activator of RhoGEF and GTPase | Często (30–79%) | W 1 chorobie |
| BGNbiglycan | Często (30–79%) | W 1 chorobie |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Często (30–79%) | W 1 chorobie |
| CDK10cyclin dependent kinase 10 | Często (30–79%) | W 1 chorobie |
| CEP152centrosomal protein 152 | Często (30–79%) | W 1 chorobie |
| CFL2cofilin 2 | Często (30–79%) | W 1 chorobie |
| CHST3carbohydrate sulfotransferase 3 | Często (30–79%) | W 2 chorobach |
| CLDN11claudin 11 | Często (30–79%) | W 1 chorobie |
| CLIP2CAP-Gly domain containing linker protein 2 | Często (30–79%) | W 1 chorobie |
| COL1A2collagen type I alpha 2 chain | Często (30–79%) | W 3 chorobach |
| COL27A1collagen type XXVII alpha 1 chain | Często (30–79%) | W 1 chorobie |
| COL5A1collagen type V alpha 1 chain | Często (30–79%) | W 3 chorobach |
| COL9A1collagen type IX alpha 1 chain | Często (30–79%) | W 1 chorobie |
| CRKLCRK like proto-oncogene, adaptor protein | Często (30–79%) | W 1 chorobie |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Często (30–79%) | W 1 chorobie |
| CTSCcathepsin C | Często (30–79%) | W 2 chorobach |
| DACT1dishevelled binding antagonist of beta catenin 1 | Często (30–79%) | W 1 chorobie |
| DLG4discs large MAGUK scaffold protein 4 | Często (30–79%) | W 1 chorobie |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Często (30–79%) | W 1 chorobie |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Często (30–79%) | W 1 chorobie |
| DPH1diphthamide biosynthesis 1 | Często (30–79%) | W 2 chorobach |
| DPH2diphthamide biosynthesis 2 | Często (30–79%) | W 1 chorobie |
| DPM3dolichyl-phosphate mannosyltransferase subunit 3, regulatory | Często (30–79%) | W 1 chorobie |
| EIF4Heukaryotic translation initiation factor 4H | Często (30–79%) | W 1 chorobie |
| EIF5Aeukaryotic translation initiation factor 5A | Często (30–79%) | W 1 chorobie |
| ELNelastin | Często (30–79%) | W 3 chorobach |
| EMILIN1elastin microfibril interfacer 1 | Często (30–79%) | W 1 chorobie |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Często (30–79%) | W 1 chorobie |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Często (30–79%) | W 1 chorobie |
| GFPT1glutamine--fructose-6-phosphate transaminase 1 | Często (30–79%) | W 1 chorobie |
| GMPPBGDP-mannose pyrophosphorylase B | Często (30–79%) | W 1 chorobie |
| 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 |
| GTPBP1GTP binding protein 1 | Często (30–79%) | W 1 chorobie |
| GTPBP2GTP binding protein 2 | Często (30–79%) | W 1 chorobie |
| HEATR3HEAT repeat containing 3 | Często (30–79%) | W 1 chorobie |
| HIVEP2HIVEP zinc finger 2 | Często (30–79%) | W 1 chorobie |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Często (30–79%) | W 1 chorobie |
| IQSEC2IQ motif and Sec7 domain ArfGEF 2 | Często (30–79%) | W 1 chorobie |
| LIMK1LIM domain kinase 1 | Często (30–79%) | W 1 chorobie |
| LMX1BLIM homeobox transcription factor 1 beta | Często (30–79%) | W 2 chorobach |
| MAPK1mitogen-activated protein kinase 1 | Często (30–79%) | W 2 chorobach |
| MED12mediator complex subunit 12 | Często (30–79%) | W 1 chorobie |
| METTL27methyltransferase like 27 | Często (30–79%) | W 1 chorobie |
| MTR5-methyltetrahydrofolate-homocysteine methyltransferase | Często (30–79%) | W 1 chorobie |
| NCF1neutrophil cytosolic factor 1 | Często (30–79%) | W 1 chorobie |
| PMM2phosphomannomutase 2 | Często (30–79%) | W 1 chorobie |
| PMPCApeptidase, mitochondrial processing subunit alpha | Często (30–79%) | W 1 chorobie |
| PRKG2protein kinase cGMP-dependent 2 | Często (30–79%) | W 1 chorobie |
| PROKR2prokineticin receptor 2 | Często (30–79%) | W 2 chorobach |
| PRR12proline rich 12 | Często (30–79%) | W 1 chorobie |
| PYROXD1pyridine nucleotide-disulphide oxidoreductase domain 1 | Często (30–79%) | W 1 chorobie |
| RAI1retinoic acid induced 1 | Często (30–79%) | W 3 chorobach |
| RFC2replication factor C subunit 2 | Często (30–79%) | W 1 chorobie |
| RPS6KA3ribosomal protein S6 kinase A3 | Często (30–79%) | W 2 chorobach |
| RSPRY1ring finger and SPRY domain containing 1 | Często (30–79%) | W 1 chorobie |
| RTN2reticulon 2 | Często (30–79%) | W 1 chorobie |
| RYR1ryanodine receptor 1 | Często (30–79%) | W 2 chorobach |
| SALL1spalt like transcription factor 1 | Często (30–79%) | W 1 chorobie |
| SARS1seryl-tRNA synthetase 1 | Często (30–79%) | W 1 chorobie |
| SCO2synthesis of cytochrome C oxidase 2 | Często (30–79%) | W 2 chorobach |
| SEC23ASEC23 homolog A, COPII component | Często (30–79%) | W 2 chorobach |
| SLC16A2solute carrier family 16 member 2 | Często (30–79%) | W 2 chorobach |
| SLC29A3solute carrier family 29 member 3 | Często (30–79%) | W 2 chorobach |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Często (30–79%) | W 1 chorobie |
| SMC5structural maintenance of chromosomes 5 | Często (30–79%) | W 1 chorobie |
| STX1Asyntaxin 1A | Często (30–79%) | W 1 chorobie |
| TBL2transducin beta like 2 | Często (30–79%) | W 1 chorobie |
| TFE3transcription factor binding to IGHM enhancer 3 | Często (30–79%) | W 1 chorobie |
| TMEM270transmembrane protein 270 | Często (30–79%) | W 1 chorobie |
| TNXBtenascin XB | Często (30–79%) | W 1 chorobie |
| TPRtranslocated promoter region, nuclear basket protein | Często (30–79%) | W 1 chorobie |
| VPS37DVPS37D subunit of ESCRT-I | Często (30–79%) | W 1 chorobie |
| WASF1WASP family member 1 | Często (30–79%) | W 1 chorobie |
| XYLT1xylosyltransferase 1 | Często (30–79%) | W 2 chorobach |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Czasami (5–29%) | W 1 chorobie |
| ACTA2actin alpha 2, smooth muscle | Czasami (5–29%) | W 1 chorobie |
| AFF3ALF transcription elongation factor 3 | Czasami (5–29%) | W 1 chorobie |
| AGAaspartylglucosaminidase | Czasami (5–29%) | W 1 chorobie |
| AHCYadenosylhomocysteinase | Czasami (5–29%) | W 1 chorobie |
| AHDC1AT-hook DNA binding motif containing 1 | Czasami (5–29%) | W 1 chorobie |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Czasami (5–29%) | W 1 chorobie |
| ANOS1anosmin 1 | Czasami (5–29%) | W 1 chorobie |
| AP1G1adaptor related protein complex 1 subunit gamma 1 | Czasami (5–29%) | W 1 chorobie |
| AP4B1adaptor related protein complex 4 subunit beta 1 | Czasami (5–29%) | W 2 chorobach |
| AP4E1adaptor related protein complex 4 subunit epsilon 1 | Czasami (5–29%) | W 1 chorobie |
| AP4M1adaptor related protein complex 4 subunit mu 1 | Czasami (5–29%) | W 1 chorobie |
| AP4S1adaptor related protein complex 4 subunit sigma 1 | 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 |
| ASXL3ASXL transcriptional regulator 3 | Czasami (5–29%) | W 2 chorobach |
| ATP6AP2ATPase H+ transporting accessory protein 2 | Czasami (5–29%) | W 1 chorobie |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Czasami (5–29%) | W 2 chorobach |
| ATP7AATPase copper transporting alpha | Czasami (5–29%) | W 2 chorobach |
| BCL11ABCL11 transcription factor A | Czasami (5–29%) | W 1 chorobie |
| BICD2BICD cargo adaptor 2 | Czasami (5–29%) | W 1 chorobie |
| BPTFbromodomain PHD finger transcription factor | Czasami (5–29%) | W 1 chorobie |
| BRCA1BRCA1 DNA repair associated | Czasami (5–29%) | W 1 chorobie |
| BRCA2BRCA2 DNA repair associated | Czasami (5–29%) | W 1 chorobie |
| BRF1BRF1 general transcription factor IIIB subunit | Czasami (5–29%) | W 1 chorobie |
| BRIP1BRCA1 interacting DNA helicase 1 | Czasami (5–29%) | W 1 chorobie |
| BRWD3bromodomain and WD repeat domain containing 3 | Czasami (5–29%) | W 1 chorobie |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Czasami (5–29%) | W 1 chorobie |
| CACHD1cache domain containing 1 | Czasami (5–29%) | W 1 chorobie |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Czasami (5–29%) | W 1 chorobie |
| CADM3cell adhesion molecule 3 | Czasami (5–29%) | W 1 chorobie |
| CBFBcore-binding factor subunit beta | Czasami (5–29%) | W 1 chorobie |
| CCDC141coiled-coil domain containing 141 | Czasami (5–29%) | W 1 chorobie |
| CCNKcyclin K | Czasami (5–29%) | W 1 chorobie |
| CDC42BPBCDC42 binding protein kinase beta | Czasami (5–29%) | W 1 chorobie |
| CHD7chromodomain helicase DNA binding protein 7 | Czasami (5–29%) | W 1 chorobie |
| CHD8chromodomain helicase DNA binding protein 8 | Czasami (5–29%) | W 1 chorobie |
| CICcapicua transcriptional repressor | Czasami (5–29%) | W 1 chorobie |
| CNOT3CCR4-NOT transcription complex subunit 3 | Czasami (5–29%) | W 1 chorobie |
| COL12A1collagen type XII alpha 1 chain | Czasami (5–29%) | W 1 chorobie |
| COL5A2collagen type V alpha 2 chain | Czasami (5–29%) | W 1 chorobie |
| COPB1coat protein complex I subunit beta 1 | Czasami (5–29%) | W 1 chorobie |
| CTCFCCCTC-binding factor | Czasami (5–29%) | W 1 chorobie |
| CUL4Bcullin 4B | Czasami (5–29%) | W 1 chorobie |
| CWC27CWC27 spliceosome associated cyclophilin | Czasami (5–29%) | W 2 chorobach |
| DCCDCC netrin 1 receptor | Czasami (5–29%) | W 1 chorobie |
| DHX30DExH-box helicase 30 | Czasami (5–29%) | W 1 chorobie |
| DMDdystrophin | Czasami (5–29%) | W 1 chorobie |
| DPH5diphthamide biosynthesis 5 | Czasami (5–29%) | W 1 chorobie |
| DUSP6dual specificity phosphatase 6 | Czasami (5–29%) | W 1 chorobie |
| DYMdymeclin | Czasami (5–29%) | W 1 chorobie |
| EBF3EBF transcription factor 3 | Czasami (5–29%) | W 1 chorobie |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Czasami (5–29%) | W 1 chorobie |
| EHMT1euchromatic histone lysine methyltransferase 1 | Czasami (5–29%) | W 1 chorobie |
| EIF3Feukaryotic translation initiation factor 3 subunit F | Czasami (5–29%) | W 1 chorobie |
| EMX2empty spiracles homeobox 2 | Czasami (5–29%) | W 1 chorobie |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Czasami (5–29%) | W 1 chorobie |
| FAAP100FA core complex associated protein 100 | Czasami (5–29%) | W 1 chorobie |
| FANCAFA complementation group A | Czasami (5–29%) | W 1 chorobie |
| FANCBFA complementation group B | Czasami (5–29%) | W 1 chorobie |
| FANCCFA complementation group C | Czasami (5–29%) | W 1 chorobie |
| FANCD2FA complementation group D2 | Czasami (5–29%) | W 1 chorobie |
| FANCEFA complementation group E | Czasami (5–29%) | W 1 chorobie |
| FANCFFA complementation group F | Czasami (5–29%) | W 1 chorobie |
| FANCGFA complementation group G | Czasami (5–29%) | W 1 chorobie |
| FANCIFA complementation group I | Czasami (5–29%) | W 1 chorobie |
| FANCLFA complementation group L | Czasami (5–29%) | W 1 chorobie |
| FANCMFA complementation group M | Czasami (5–29%) | W 1 chorobie |
| FBXO11F-box protein 11 | Czasami (5–29%) | W 1 chorobie |
| FBXO22F-box protein 22 | Czasami (5–29%) | W 1 chorobie |
| FEZF1FEZ family zinc finger 1 | Czasami (5–29%) | W 1 chorobie |
| FGF17fibroblast growth factor 17 | Czasami (5–29%) | W 1 chorobie |
| FGF8fibroblast growth factor 8 | Czasami (5–29%) | W 1 chorobie |
| FGFR1fibroblast growth factor receptor 1 | Czasami (5–29%) | W 1 chorobie |
| FIBPFGF1 intracellular binding protein | Czasami (5–29%) | W 1 chorobie |
| FLNAfilamin A | Czasami (5–29%) | W 2 chorobach |
| FLNBfilamin B | Czasami (5–29%) | W 2 chorobach |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Czasami (5–29%) | W 1 chorobie |
| FOXE3forkhead box E3 | Czasami (5–29%) | W 1 chorobie |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Czasami (5–29%) | W 1 chorobie |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Czasami (5–29%) | W 2 chorobach |
| GARS1glycyl-tRNA synthetase 1 | Czasami (5–29%) | W 1 chorobie |
| GATA4GATA binding protein 4 | Czasami (5–29%) | W 1 chorobie |
| GDF11growth differentiation factor 11 | Czasami (5–29%) | W 1 chorobie |
| GNB1G protein subunit beta 1 | Czasami (5–29%) | W 1 chorobie |
| GORABgolgin, RAB6 interacting | Czasami (5–29%) | W 1 chorobie |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Czasami (5–29%) | W 1 chorobie |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Czasami (5–29%) | W 1 chorobie |
| H3-3BH3.3 histone B | Czasami (5–29%) | W 1 chorobie |
| H4C5H4 clustered histone 5 | Czasami (5–29%) | W 1 chorobie |
| HESX1HESX homeobox 1 | Czasami (5–29%) | W 1 chorobie |
| HEY2hes related family bHLH transcription factor with YRPW motif 2 | Czasami (5–29%) | W 1 chorobie |
| HK1hexokinase 1 | Czasami (5–29%) | W 1 chorobie |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Czasami (5–29%) | W 2 chorobach |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Czasami (5–29%) | W 1 chorobie |
| IFITM5interferon induced transmembrane protein 5 | Czasami (5–29%) | W 1 chorobie |
| IL17RDinterleukin 17 receptor D | Czasami (5–29%) | W 1 chorobie |
| JARID2jumonji and AT-rich interaction domain containing 2 | Czasami (5–29%) | W 1 chorobie |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Czasami (5–29%) | W 1 chorobie |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Czasami (5–29%) | W 1 chorobie |
| KDELR2KDEL endoplasmic reticulum protein retention receptor 2 | Czasami (5–29%) | W 1 chorobie |
| LOXlysyl oxidase | Czasami (5–29%) | W 1 chorobie |
| LRRC7leucine rich repeat containing 7 | Czasami (5–29%) | W 1 chorobie |
| MAB21L2mab-21 like 2 | Czasami (5–29%) | W 1 chorobie |
| MAD2L2mitotic arrest deficient 2 like 2 | Czasami (5–29%) | W 1 chorobie |
| MAPRE2microtubule associated protein RP/EB family member 2 | Czasami (5–29%) | W 1 chorobie |
| MAT2Amethionine adenosyltransferase 2A | Czasami (5–29%) | W 1 chorobie |
| MED12Lmediator complex subunit 12L | Czasami (5–29%) | W 1 chorobie |
| MFAP5microfibril associated protein 5 | Czasami (5–29%) | W 1 chorobie |
| MORC2MORC family CW-type zinc finger 2 | Czasami (5–29%) | W 1 chorobie |
| MTORmechanistic target of rapamycin kinase | Czasami (5–29%) | W 1 chorobie |
| MYH11myosin heavy chain 11 | Czasami (5–29%) | W 1 chorobie |
| MYH3myosin heavy chain 3 | Czasami (5–29%) | W 1 chorobie |
| MYH7myosin heavy chain 7 | Czasami (5–29%) | W 1 chorobie |
| MYLKmyosin light chain kinase | Czasami (5–29%) | W 1 chorobie |
| MYPNmyopalladin | Czasami (5–29%) | W 1 chorobie |
| NAA20N-alpha-acetyltransferase 20, NatB catalytic subunit | Czasami (5–29%) | W 1 chorobie |
| NDNFneuron derived neurotrophic factor | Czasami (5–29%) | W 1 chorobie |
| NDST1N-deacetylase and N-sulfotransferase 1 | Czasami (5–29%) | W 1 chorobie |
| NPR3natriuretic peptide receptor 3 | Czasami (5–29%) | W 1 chorobie |
| NSD1nuclear receptor binding SET domain protein 1 | Czasami (5–29%) | W 2 chorobach |
| PACS1phosphofurin acidic cluster sorting protein 1 | Czasami (5–29%) | W 2 chorobach |
| PALB2partner and localizer of BRCA2 | Czasami (5–29%) | W 1 chorobie |
| PCDH19protocadherin 19 | Czasami (5–29%) | W 1 chorobie |
| PDE4Dphosphodiesterase 4D | Czasami (5–29%) | W 1 chorobie |
| PHF8PHD finger protein 8 | Czasami (5–29%) | W 1 chorobie |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Czasami (5–29%) | W 1 chorobie |
| PRDM5PR/SET domain 5 | Czasami (5–29%) | W 1 chorobie |
| PRKG1protein kinase cGMP-dependent 1 | Czasami (5–29%) | W 1 chorobie |
| PROK2prokineticin 2 | Czasami (5–29%) | W 1 chorobie |
| PUF60poly(U) binding splicing factor 60 | Czasami (5–29%) | W 2 chorobach |
| RAB33BRAB33B, member RAS oncogene family | Czasami (5–29%) | W 1 chorobie |
| RAD51RAD51 recombinase | Czasami (5–29%) | W 1 chorobie |
| RAD51CRAD51 paralog C | Czasami (5–29%) | W 1 chorobie |
| RELREL proto-oncogene, NF-kB subunit | Czasami (5–29%) | W 1 chorobie |
| RFWD3ring finger and WD repeat domain 3 | Czasami (5–29%) | W 1 chorobie |
| RNU4-2RNA, U4 small nuclear 2 | Czasami (5–29%) | W 1 chorobie |
| RNU5B-1RNA, U5B small nuclear 1 | Czasami (5–29%) | W 1 chorobie |
| SBF2SET binding factor 2 | Czasami (5–29%) | W 1 chorobie |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Czasami (5–29%) | W 2 chorobach |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Czasami (5–29%) | W 2 chorobach |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Czasami (5–29%) | W 2 chorobach |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Czasami (5–29%) | W 2 chorobach |
| SELENONselenoprotein N | Czasami (5–29%) | W 1 chorobie |
| SEMA3Asemaphorin 3A | Czasami (5–29%) | W 1 chorobie |
| SH3TC2SH3 domain and tetratricopeptide repeats 2 | Czasami (5–29%) | W 1 chorobie |
| SLC5A7solute carrier family 5 member 7 | Czasami (5–29%) | W 1 chorobie |
| SLC9A7solute carrier family 9 member A7 | Czasami (5–29%) | W 1 chorobie |
| SLX4SLX4 structure-specific endonuclease subunit | Czasami (5–29%) | W 1 chorobie |
| SMAD4SMAD family member 4 | Czasami (5–29%) | W 1 chorobie |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Czasami (5–29%) | W 1 chorobie |
| SOX10SRY-box transcription factor 10 | Czasami (5–29%) | W 1 chorobie |
| SOX5SRY-box transcription factor 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 |
| SPRED2sprouty related EVH1 domain containing 2 | Czasami (5–29%) | W 1 chorobie |
| SPRY4sprouty RTK signaling antagonist 4 | Czasami (5–29%) | W 1 chorobie |
| SYT2synaptotagmin 2 | Czasami (5–29%) | W 1 chorobie |
| TACR3tachykinin receptor 3 | Czasami (5–29%) | W 1 chorobie |
| TAOK1TAO kinase 1 | Czasami (5–29%) | W 1 chorobie |
| TBC1D23TBC1 domain family member 23 | Czasami (5–29%) | W 1 chorobie |
| TBX4T-box transcription factor 4 | Czasami (5–29%) | W 2 chorobach |
| TET3tet methylcytosine dioxygenase 3 | Czasami (5–29%) | W 1 chorobie |
| TGFB1transforming growth factor beta 1 | Czasami (5–29%) | W 1 chorobie |
| THSD4thrombospondin type 1 domain containing 4 | Czasami (5–29%) | W 1 chorobie |
| TONSLtonsoku like, DNA repair protein | Czasami (5–29%) | W 1 chorobie |
| TPM2tropomyosin 2 | Czasami (5–29%) | W 2 chorobach |
| TPM3tropomyosin 3 | Czasami (5–29%) | W 1 chorobie |
| TRA2Btransformer 2 beta homolog | Czasami (5–29%) | W 1 chorobie |
| TRAF7TNF receptor associated factor 7 | Czasami (5–29%) | W 1 chorobie |
| TRIOtrio Rho guanine nucleotide exchange factor | Czasami (5–29%) | W 1 chorobie |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Czasami (5–29%) | W 1 chorobie |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Czasami (5–29%) | W 2 chorobach |
| TTNtitin | Czasami (5–29%) | W 1 chorobie |
| UBE2Tubiquitin conjugating enzyme E2 T | Czasami (5–29%) | W 1 chorobie |
| USP9Xubiquitin specific peptidase 9 X-linked | Czasami (5–29%) | W 1 chorobie |
| WACWW domain containing adaptor with coiled-coil | Czasami (5–29%) | W 1 chorobie |
| WBP4WW domain binding protein 4 | Czasami (5–29%) | W 1 chorobie |
| WDR11WD repeat domain 11 | Czasami (5–29%) | W 1 chorobie |
| XPO1exportin 1 | Czasami (5–29%) | W 1 chorobie |
| XRCC2X-ray repair cross complementing 2 | Czasami (5–29%) | W 1 chorobie |
| ZEB2zinc finger E-box binding homeobox 2 | Czasami (5–29%) | W 2 chorobach |
| ZNF148zinc finger protein 148 | Czasami (5–29%) | W 1 chorobie |
| ZNF469zinc finger protein 469 | Czasami (5–29%) | W 1 chorobie |
| ADGRV1adhesion G protein-coupled receptor V1 | Rzadko (1–4%) | W 1 chorobie |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Rzadko (1–4%) | W 1 chorobie |
| CLCN4Cl-/H+ antiporter 4 | Rzadko (1–4%) | W 1 chorobie |
| CPA6carboxypeptidase A6 | Rzadko (1–4%) | W 1 chorobie |
| FBLN5fibulin 5 | Rzadko (1–4%) | W 1 chorobie |
| FGF13fibroblast growth factor 13 | Rzadko (1–4%) | W 1 chorobie |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Rzadko (1–4%) | W 1 chorobie |
| GJA5gap junction protein alpha 5 | Rzadko (1–4%) | W 1 chorobie |
| GJA8gap junction protein alpha 8 | Rzadko (1–4%) | W 1 chorobie |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Rzadko (1–4%) | W 1 chorobie |
| MSL2MSL complex subunit 2 | Rzadko (1–4%) | W 1 chorobie |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Rzadko (1–4%) | W 2 chorobach |
| PRRT2proline rich transmembrane protein 2 | Rzadko (1–4%) | W 1 chorobie |
| PTBP1polypyrimidine tract binding protein 1 | Rzadko (1–4%) | W 1 chorobie |
| SLC10A7solute carrier family 10 member 7 | Rzadko (1–4%) | W 1 chorobie |
| SLC32A1solute carrier family 32 member 1 | Rzadko (1–4%) | W 1 chorobie |
| STX1Bsyntaxin 1B | Rzadko (1–4%) | W 1 chorobie |
| AMMECR1AMMECR nuclear protein 1 | Nie odnotowano | W 1 chorobie |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Nie odnotowano | W 1 chorobie |
| ATRATR checkpoint kinase | Nie odnotowano | W 1 chorobie |
| ATRXATRX chromatin remodeler | Nie odnotowano | W 1 chorobie |
| C12orf57chromosome 12 open reading frame 57 | Nie odnotowano | W 1 chorobie |
| CANT1calcium activated nucleotidase 1 | Nie odnotowano | W 1 chorobie |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Nie odnotowano | W 1 chorobie |
| COL2A1collagen type II alpha 1 chain | Nie odnotowano | W 1 chorobie |
| CREBBPCREB binding lysine acetyltransferase | Nie odnotowano | W 1 chorobie |
| CRLF1cytokine receptor like factor 1 | Nie odnotowano | W 1 chorobie |
| EP300EP300 lysine acetyltransferase | Nie odnotowano | W 1 chorobie |
| EXOC6Bexocyst complex component 6B | Nie odnotowano | W 1 chorobie |
| EXT2exostosin glycosyltransferase 2 | Nie odnotowano | W 1 chorobie |
| FOXG1forkhead box G1 | Nie odnotowano | W 1 chorobie |
| GANgigaxonin | Nie odnotowano | W 1 chorobie |
| GDF5growth differentiation factor 5 | Nie odnotowano | W 1 chorobie |
| GDF6growth differentiation factor 6 | Nie odnotowano | W 1 chorobie |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Nie odnotowano | W 1 chorobie |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Nie odnotowano | W 1 chorobie |
| MMP2matrix metallopeptidase 2 | Nie odnotowano | W 1 chorobie |
| PEX6peroxisomal biogenesis factor 6 | Nie odnotowano | W 1 chorobie |
| RAB7ARAB7A, member RAS oncogene family | Nie odnotowano | W 1 chorobie |
| RLIMring finger protein, LIM domain interacting | Nie odnotowano | W 1 chorobie |
| SALL4spalt like transcription factor 4 | Nie odnotowano | W 1 chorobie |
| SIL1SIL1 nucleotide exchange factor | Nie odnotowano | W 1 chorobie |
| SLC39A13solute carrier family 39 member 13 | Nie odnotowano | W 1 chorobie |
| SPRTNSprT-like N-terminal domain | Nie odnotowano | W 1 chorobie |
| STAG2STAG2 cohesin complex component | Nie odnotowano | W 1 chorobie |
| TDO2tryptophan 2,3-dioxygenase | Nie odnotowano | W 1 chorobie |
| TLK2tousled like kinase 2 | Nie odnotowano | W 1 chorobie |
| TRPS1transcriptional repressor GATA binding 1 | Nie odnotowano | W 1 chorobie |
| UCHL1ubiquitin C-terminal hydrolase L1 | Nie odnotowano | W 1 chorobie |
| VPS13Bvacuolar protein sorting 13 homolog B | Nie odnotowano | W 1 chorobie |
| ZDHHC9zDHHC palmitoyltransferase 9 | 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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