Cecha
High forehead
An abnormally increased height of the forehead.
Podsumowanie
- Znana także jako
- Tall forehead
- Układ organizmu
- Abnormality of head or neck
Genom referencyjnyGRCh38hg38
Pozycje na stronach genów i wariantów zależą od tego wyboru, w tej przeglądarce.
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Zamawiam Genome Test346 genów powiązanych z High forehead
Zmiany w tych genach powodują rzadkie choroby, w których występuje High forehead. 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 |
|---|---|---|
| ACTBactin beta | Zawsze | W 2 chorobach |
| AHDC1AT-hook DNA binding motif containing 1 | Zawsze | W 1 chorobie |
| ALDH6A1aldehyde dehydrogenase 6 family member A1 | Zawsze | W 1 chorobie |
| AP1S1adaptor related protein complex 1 subunit sigma 1 | Zawsze | W 1 chorobie |
| ARID2AT-rich interaction domain 2 | Zawsze | W 1 chorobie |
| ATP6AP1ATPase H+ transporting accessory protein 1 | Zawsze | W 1 chorobie |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Zawsze | W 2 chorobach |
| BNIP1BCL2 interacting protein 1 | Zawsze | W 1 chorobie |
| C1GALT1C1C1GALT1 specific chaperone 1 | Zawsze | W 1 chorobie |
| CDH1cadherin 1 | Zawsze | W 1 chorobie |
| CPAPcentrosome assembly and centriole elongation protein | Zawsze | W 1 chorobie |
| CRIPTCXXC repeat containing interactor of PDZ3 domain | Zawsze | W 1 chorobie |
| DONSONDNA replication fork stabilization factor DONSON | Zawsze | W 1 chorobie |
| DVL1dishevelled segment polarity protein 1 | Zawsze | W 1 chorobie |
| EXOSC1exosome component 1 | Zawsze | W 1 chorobie |
| GH1growth hormone 1 | Zawsze | W 1 chorobie |
| GON4Lgon-4 like | Zawsze | W 1 chorobie |
| HNRNPH1heterogeneous nuclear ribonucleoprotein H1 | Zawsze | W 1 chorobie |
| IFT122intraflagellar transport 122 | Zawsze | W 1 chorobie |
| IFT140intraflagellar transport 140 | Zawsze | W 2 chorobach |
| IFT52intraflagellar transport 52 | Zawsze | W 1 chorobie |
| IGBP1immunoglobulin binding protein 1 | Zawsze | W 2 chorobach |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Zawsze | W 1 chorobie |
| KDM6Blysine demethylase 6B | Zawsze | W 1 chorobie |
| MTORmechanistic target of rapamycin kinase | Zawsze | W 1 chorobie |
| NFIXnuclear factor I X | Zawsze | W 3 chorobach |
| NRASNRAS proto-oncogene, GTPase | Zawsze | W 2 chorobach |
| NSD1nuclear receptor binding SET domain protein 1 | Zawsze | W 1 chorobie |
| NSD2nuclear receptor binding SET domain protein 2 | Zawsze | W 3 chorobach |
| NXNnucleoredoxin | Zawsze | W 1 chorobie |
| ODC1ornithine decarboxylase 1 | Zawsze | W 1 chorobie |
| PEX12peroxisomal biogenesis factor 12 | Zawsze | W 3 chorobach |
| PEX14peroxisomal biogenesis factor 14 | Zawsze | W 3 chorobach |
| PEX26peroxisomal biogenesis factor 26 | Zawsze | W 3 chorobach |
| PEX3peroxisomal biogenesis factor 3 | Zawsze | W 4 chorobach |
| POC1APOC1 centriolar protein A | Zawsze | W 1 chorobie |
| PPFIA3PPFI scaffold protein A3 | Zawsze | W 1 chorobie |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Zawsze | W 1 chorobie |
| RAP1GDS1Rap1 GTPase-GDP dissociation stimulator 1 | Zawsze | W 1 chorobie |
| RIN2Ras and Rab interactor 2 | Zawsze | W 1 chorobie |
Pokaż jeszcze 306 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| RNF113Aring finger protein 113A | Zawsze | W 1 chorobie |
| RPL17ribosomal protein L17 | Zawsze | W 1 chorobie |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Zawsze | W 1 chorobie |
| SCUBE3signal peptide, CUB domain and EGF like domain containing 3 | Zawsze | W 1 chorobie |
| SPOUT1SPOUT domain containing methyltransferase 1 | Zawsze | W 1 chorobie |
| TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase | Zawsze | W 1 chorobie |
| THOC6THO complex subunit 6 | Zawsze | W 2 chorobach |
| TRA2Btransformer 2 beta homolog | Zawsze | W 1 chorobie |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Zawsze | W 3 chorobach |
| UBA2ubiquitin like modifier activating enzyme 2 | Zawsze | W 1 chorobie |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Zawsze | W 1 chorobie |
| UNC13Aunc-13 homolog A | Zawsze | W 2 chorobach |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Zawsze | W 1 chorobie |
| WWOXWW domain containing oxidoreductase | Zawsze | W 1 chorobie |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Zawsze | W 1 chorobie |
| ANKRD11ankyrin repeat domain 11 | Bardzo często (80–99%) | W 1 chorobie |
| ANTXR1ANTXR cell adhesion molecule 1 | Bardzo często (80–99%) | W 1 chorobie |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Bardzo często (80–99%) | W 1 chorobie |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Bardzo często (80–99%) | W 1 chorobie |
| BCORL1BCL6 corepressor like 1 | Bardzo często (80–99%) | W 1 chorobie |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Bardzo często (80–99%) | W 2 chorobach |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Bardzo często (80–99%) | W 1 chorobie |
| CBLCbl proto-oncogene | Bardzo często (80–99%) | W 1 chorobie |
| CDH11cadherin 11 | Bardzo często (80–99%) | W 1 chorobie |
| CILK1ciliogenesis associated kinase 1 | Bardzo często (80–99%) | W 1 chorobie |
| CLIP2CAP-Gly domain containing linker protein 2 | Bardzo często (80–99%) | W 1 chorobie |
| CPLX1complexin 1 | Bardzo często (80–99%) | W 2 chorobach |
| CTBP1C-terminal binding protein 1 | Bardzo często (80–99%) | W 2 chorobach |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Bardzo często (80–99%) | W 1 chorobie |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Bardzo często (80–99%) | W 1 chorobie |
| EIF4Heukaryotic translation initiation factor 4H | Bardzo często (80–99%) | W 1 chorobie |
| ELNelastin | Bardzo często (80–99%) | W 1 chorobie |
| EPB41L1erythrocyte membrane protein band 4.1 like 1 | Bardzo często (80–99%) | W 1 chorobie |
| FGFR1fibroblast growth factor receptor 1 | Bardzo często (80–99%) | W 1 chorobie |
| FGFR2fibroblast growth factor receptor 2 | Bardzo często (80–99%) | W 9 chorobach |
| FGFR3fibroblast growth factor receptor 3 | Bardzo często (80–99%) | W 2 chorobach |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Bardzo często (80–99%) | W 1 chorobie |
| GHRgrowth hormone receptor | Bardzo często (80–99%) | W 1 chorobie |
| GTF2Igeneral transcription factor IIi | Bardzo często (80–99%) | W 1 chorobie |
| GTF2IRD1GTF2I repeat domain containing 1 | Bardzo często (80–99%) | W 1 chorobie |
| GTF2IRD2GTF2I repeat domain containing 2 | Bardzo często (80–99%) | W 1 chorobie |
| GTPBP2GTP binding protein 2 | Bardzo często (80–99%) | W 1 chorobie |
| HIC1HIC ZBTB transcriptional repressor 1 | Bardzo często (80–99%) | W 1 chorobie |
| KRASKRas proto-oncogene, GTPase | Bardzo często (80–99%) | W 2 chorobach |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Bardzo często (80–99%) | W 2 chorobach |
| LIMK1LIM domain kinase 1 | Bardzo często (80–99%) | W 1 chorobie |
| LRP5LDL receptor related protein 5 | Bardzo często (80–99%) | W 1 chorobie |
| LZTR1leucine zipper like post translational regulator 1 | Bardzo często (80–99%) | W 1 chorobie |
| MED12mediator complex subunit 12 | Bardzo często (80–99%) | W 2 chorobach |
| MEF2Cmyocyte enhancer factor 2C | Bardzo często (80–99%) | W 1 chorobie |
| METTL27methyltransferase like 27 | Bardzo często (80–99%) | W 1 chorobie |
| MRASmuscle RAS oncogene homolog | Bardzo często (80–99%) | W 2 chorobach |
| NCF1neutrophil cytosolic factor 1 | Bardzo często (80–99%) | W 1 chorobie |
| NELFAnegative elongation factor complex member A | Bardzo często (80–99%) | W 1 chorobie |
| ORAI1ORAI calcium release-activated calcium modulator 1 | Bardzo często (80–99%) | W 1 chorobie |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Bardzo często (80–99%) | W 2 chorobach |
| PEX1peroxisomal biogenesis factor 1 | Bardzo często (80–99%) | W 3 chorobach |
| PEX10peroxisomal biogenesis factor 10 | Bardzo często (80–99%) | W 2 chorobach |
| PEX11Bperoxisomal biogenesis factor 11 beta | Bardzo często (80–99%) | W 2 chorobach |
| PEX13peroxisomal biogenesis factor 13 | Bardzo często (80–99%) | W 3 chorobach |
| PEX16peroxisomal biogenesis factor 16 | Bardzo często (80–99%) | W 2 chorobach |
| PEX19peroxisomal biogenesis factor 19 | Bardzo często (80–99%) | W 2 chorobach |
| PEX2peroxisomal biogenesis factor 2 | Bardzo często (80–99%) | W 3 chorobach |
| PEX5peroxisomal biogenesis factor 5 | Bardzo często (80–99%) | W 4 chorobach |
| PEX6peroxisomal biogenesis factor 6 | Bardzo często (80–99%) | W 2 chorobach |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Bardzo często (80–99%) | W 1 chorobie |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Bardzo często (80–99%) | W 2 chorobach |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Bardzo często (80–99%) | W 1 chorobie |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Bardzo często (80–99%) | W 1 chorobie |
| RASA2RAS p21 protein activator 2 | Bardzo często (80–99%) | W 1 chorobie |
| RFC2replication factor C subunit 2 | Bardzo często (80–99%) | W 1 chorobie |
| RIT1Ras like without CAAX 1 | Bardzo często (80–99%) | W 1 chorobie |
| RRASRAS related | Bardzo często (80–99%) | W 1 chorobie |
| RRAS2RAS related 2 | Bardzo często (80–99%) | W 1 chorobie |
| SIX2SIX homeobox 2 | Bardzo często (80–99%) | W 1 chorobie |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Bardzo często (80–99%) | W 1 chorobie |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Bardzo często (80–99%) | W 1 chorobie |
| SPRED2sprouty related EVH1 domain containing 2 | Bardzo często (80–99%) | W 1 chorobie |
| STIM1stromal interaction molecule 1 | Bardzo często (80–99%) | W 1 chorobie |
| STX1Asyntaxin 1A | Bardzo często (80–99%) | W 1 chorobie |
| TBCEtubulin folding cofactor E | Bardzo często (80–99%) | W 1 chorobie |
| TBL2transducin beta like 2 | Bardzo często (80–99%) | W 1 chorobie |
| TMEM270transmembrane protein 270 | Bardzo często (80–99%) | W 1 chorobie |
| TWIST1twist family bHLH transcription factor 1 | Bardzo często (80–99%) | W 2 chorobach |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Bardzo często (80–99%) | W 1 chorobie |
| VPS37DVPS37D subunit of ESCRT-I | Bardzo często (80–99%) | W 1 chorobie |
| WDR37WD repeat domain 37 | Bardzo często (80–99%) | W 1 chorobie |
| YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | Bardzo często (80–99%) | W 2 chorobach |
| ZDHHC9zDHHC palmitoyltransferase 9 | Bardzo często (80–99%) | W 1 chorobie |
| AKT3AKT serine/threonine kinase 3 | Często (30–79%) | W 1 chorobie |
| ALG11ALG11 alpha-1,2-mannosyltransferase | Często (30–79%) | W 2 chorobach |
| APCAPC regulator of Wnt signaling pathway | Często (30–79%) | W 1 chorobie |
| BPNT23'(2'), 5'-bisphosphate nucleotidase 2 | Często (30–79%) | W 1 chorobie |
| CCND2cyclin D2 | Często (30–79%) | W 1 chorobie |
| EBF3EBF transcription factor 3 | Często (30–79%) | W 1 chorobie |
| FBN1fibrillin 1 | Często (30–79%) | W 1 chorobie |
| FBXO22F-box protein 22 | Często (30–79%) | W 1 chorobie |
| FGFRL1fibroblast growth factor receptor like 1 | Często (30–79%) | W 1 chorobie |
| FIG4FIG4 phosphoinositide 5-phosphatase | Często (30–79%) | W 1 chorobie |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Często (30–79%) | W 1 chorobie |
| FUT8fucosyltransferase 8 | Często (30–79%) | W 1 chorobie |
| GATA4GATA binding protein 4 | Często (30–79%) | W 1 chorobie |
| GJA1gap junction protein alpha 1 | Często (30–79%) | W 1 chorobie |
| GLI3GLI family zinc finger 3 | Często (30–79%) | W 2 chorobach |
| GTF3C3general transcription factor IIIC subunit 3 | Często (30–79%) | W 1 chorobie |
| GTPBP1GTP binding protein 1 | Często (30–79%) | W 1 chorobie |
| HBA1hemoglobin subunit alpha 1 | Często (30–79%) | W 1 chorobie |
| HBA2hemoglobin subunit alpha 2 | Często (30–79%) | W 1 chorobie |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Często (30–79%) | W 1 chorobie |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Często (30–79%) | W 1 chorobie |
| IL11RAinterleukin 11 receptor subunit alpha | Często (30–79%) | W 1 chorobie |
| INPPL1inositol polyphosphate phosphatase like 1 | Często (30–79%) | W 1 chorobie |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Często (30–79%) | W 1 chorobie |
| KDM6Alysine demethylase 6A | Często (30–79%) | W 1 chorobie |
| KMT2Dlysine methyltransferase 2D | Często (30–79%) | W 2 chorobach |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Często (30–79%) | W 1 chorobie |
| MADDMAP kinase activating death domain | Często (30–79%) | W 2 chorobach |
| MAFMAF bZIP transcription factor | Często (30–79%) | W 2 chorobach |
| MAN2C1mannosidase alpha class 2C member 1 | Często (30–79%) | W 1 chorobie |
| MAP2K1mitogen-activated protein kinase kinase 1 | Często (30–79%) | W 1 chorobie |
| MAP2K2mitogen-activated protein kinase kinase 2 | Często (30–79%) | W 2 chorobach |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Często (30–79%) | W 2 chorobach |
| MED25mediator complex subunit 25 | Często (30–79%) | W 1 chorobie |
| MYOD1myogenic differentiation 1 | Często (30–79%) | W 1 chorobie |
| NSRP1nuclear speckle splicing regulatory protein 1 | Często (30–79%) | W 1 chorobie |
| PDCD6IPprogrammed cell death 6 interacting protein | Często (30–79%) | W 1 chorobie |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Często (30–79%) | W 2 chorobach |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Często (30–79%) | W 1 chorobie |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Często (30–79%) | W 1 chorobie |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Często (30–79%) | W 1 chorobie |
| PIK3R2phosphoinositide-3-kinase regulatory subunit 2 | Często (30–79%) | W 1 chorobie |
| POLR2ARNA polymerase II subunit A | Często (30–79%) | W 1 chorobie |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Często (30–79%) | W 1 chorobie |
| RBM8ARNA binding motif protein 8A | Często (30–79%) | W 1 chorobie |
| SATB2SATB homeobox 2 | Często (30–79%) | W 3 chorobach |
| SCNM1sodium channel modifier 1 | Często (30–79%) | W 1 chorobie |
| SETD1ASET domain containing 1A, histone lysine methyltransferase | Często (30–79%) | W 1 chorobie |
| SH3PXD2BSH3 and PX domains 2B | Często (30–79%) | W 1 chorobie |
| SHPKsedoheptulokinase | Często (30–79%) | W 1 chorobie |
| SKISKI proto-oncogene | Często (30–79%) | W 1 chorobie |
| SMAD3SMAD family member 3 | Często (30–79%) | W 1 chorobie |
| TAOK1TAO kinase 1 | Często (30–79%) | W 1 chorobie |
| TBL1XR1TBL1X/Y related 1 | Często (30–79%) | W 2 chorobach |
| TBX1T-box transcription factor 1 | Często (30–79%) | W 1 chorobie |
| TRIOtrio Rho guanine nucleotide exchange factor | Często (30–79%) | W 2 chorobach |
| TSHZ3teashirt zinc finger homeobox 3 | Często (30–79%) | W 1 chorobie |
| VAC14VAC14 component of PIKFYVE complex | Często (30–79%) | W 1 chorobie |
| WLSWnt ligand secretion mediator | Często (30–79%) | W 1 chorobie |
| ZIC1Zic family zinc finger 1 | Często (30–79%) | W 2 chorobach |
| AARS1alanyl-tRNA synthetase 1 | Czasami (5–29%) | W 1 chorobie |
| ACTL6Bactin like 6B | Czasami (5–29%) | W 1 chorobie |
| ADAT3adenosine deaminase tRNA specific 3 | Czasami (5–29%) | W 2 chorobach |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Czasami (5–29%) | W 1 chorobie |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Czasami (5–29%) | W 1 chorobie |
| ATAD3AATPase family AAA domain containing 3A | Czasami (5–29%) | W 2 chorobach |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Czasami (5–29%) | W 2 chorobach |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Czasami (5–29%) | W 2 chorobach |
| ATP6V1AATPase H+ transporting V1 subunit A | Czasami (5–29%) | W 1 chorobie |
| ATP7AATPase copper transporting alpha | Czasami (5–29%) | W 2 chorobach |
| BCL11ABCL11 transcription factor A | Czasami (5–29%) | W 1 chorobie |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Czasami (5–29%) | W 1 chorobie |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Czasami (5–29%) | W 2 chorobach |
| BUB3BUB3 mitotic checkpoint protein | Czasami (5–29%) | W 1 chorobie |
| CACHD1cache domain containing 1 | Czasami (5–29%) | W 1 chorobie |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Czasami (5–29%) | W 2 chorobach |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Czasami (5–29%) | W 1 chorobie |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Czasami (5–29%) | W 1 chorobie |
| CARS1cysteinyl-tRNA synthetase 1 | Czasami (5–29%) | W 1 chorobie |
| CDC42BPBCDC42 binding protein kinase beta | Czasami (5–29%) | W 1 chorobie |
| CDK19cyclin dependent kinase 19 | Czasami (5–29%) | W 1 chorobie |
| CDKL5cyclin dependent kinase like 5 | Czasami (5–29%) | W 1 chorobie |
| CELF2CUGBP Elav-like family member 2 | Czasami (5–29%) | W 1 chorobie |
| CEP57centrosomal protein 57 | Czasami (5–29%) | W 1 chorobie |
| CLTCclathrin heavy chain | Czasami (5–29%) | W 1 chorobie |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Czasami (5–29%) | W 1 chorobie |
| COX7Bcytochrome c oxidase subunit 7B | Czasami (5–29%) | W 1 chorobie |
| CTCFCCCTC-binding factor | Czasami (5–29%) | W 2 chorobach |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Czasami (5–29%) | W 1 chorobie |
| DALRD3DALR anticodon binding domain containing 3 | Czasami (5–29%) | W 1 chorobie |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Czasami (5–29%) | W 1 chorobie |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Czasami (5–29%) | W 1 chorobie |
| DHX30DExH-box helicase 30 | Czasami (5–29%) | W 1 chorobie |
| DNM1dynamin 1 | Czasami (5–29%) | W 1 chorobie |
| DOT1LDOT1 like histone lysine methyltransferase | Czasami (5–29%) | W 1 chorobie |
| DPH5diphthamide biosynthesis 5 | Czasami (5–29%) | W 1 chorobie |
| DVL3dishevelled segment polarity protein 3 | Czasami (5–29%) | W 1 chorobie |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Czasami (5–29%) | W 1 chorobie |
| EXT2exostosin glycosyltransferase 2 | Czasami (5–29%) | W 1 chorobie |
| FBXO28F-box protein 28 | Czasami (5–29%) | W 1 chorobie |
| FGF12fibroblast growth factor 12 | Czasami (5–29%) | W 1 chorobie |
| FOCADfocadhesin | Czasami (5–29%) | W 1 chorobie |
| FOXG1forkhead box G1 | Czasami (5–29%) | W 1 chorobie |
| FRA10AC1FRA10A associated CGG repeat 1 | Czasami (5–29%) | W 1 chorobie |
| FRMPD4FERM and PDZ domain containing 4 | Czasami (5–29%) | W 1 chorobie |
| FZR1fizzy and cell division cycle 20 related 1 | Czasami (5–29%) | W 1 chorobie |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Czasami (5–29%) | W 1 chorobie |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Czasami (5–29%) | W 1 chorobie |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Czasami (5–29%) | W 1 chorobie |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Czasami (5–29%) | W 1 chorobie |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Czasami (5–29%) | W 1 chorobie |
| GNB2G protein subunit beta 2 | Czasami (5–29%) | W 1 chorobie |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Czasami (5–29%) | W 1 chorobie |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Czasami (5–29%) | W 1 chorobie |
| H3-3AH3.3 histone A | Czasami (5–29%) | W 1 chorobie |
| H3-3BH3.3 histone B | Czasami (5–29%) | W 1 chorobie |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Czasami (5–29%) | W 1 chorobie |
| HIVEP2HIVEP zinc finger 2 | Czasami (5–29%) | W 1 chorobie |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Czasami (5–29%) | W 1 chorobie |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Czasami (5–29%) | W 1 chorobie |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Czasami (5–29%) | W 1 chorobie |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Czasami (5–29%) | W 1 chorobie |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Czasami (5–29%) | W 1 chorobie |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Czasami (5–29%) | W 1 chorobie |
| KDM2Blysine demethylase 2B | Czasami (5–29%) | W 1 chorobie |
| KMT2Alysine methyltransferase 2A | Czasami (5–29%) | W 1 chorobie |
| KMT5Blysine methyltransferase 5B | Czasami (5–29%) | W 1 chorobie |
| LMX1BLIM homeobox transcription factor 1 beta | Czasami (5–29%) | W 1 chorobie |
| MAPK1mitogen-activated protein kinase 1 | Czasami (5–29%) | W 1 chorobie |
| MARK2microtubule affinity regulating kinase 2 | Czasami (5–29%) | W 1 chorobie |
| MED12Lmediator complex subunit 12L | Czasami (5–29%) | W 1 chorobie |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Czasami (5–29%) | W 1 chorobie |
| MTX2metaxin 2 | Czasami (5–29%) | W 1 chorobie |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Czasami (5–29%) | W 1 chorobie |
| NECAP1NECAP endocytosis associated 1 | Czasami (5–29%) | W 1 chorobie |
| NPHP3nephrocystin 3 | Czasami (5–29%) | W 1 chorobie |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Czasami (5–29%) | W 1 chorobie |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Czasami (5–29%) | W 1 chorobie |
| PACS2phosphofurin acidic cluster sorting protein 2 | Czasami (5–29%) | W 1 chorobie |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Czasami (5–29%) | W 1 chorobie |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Czasami (5–29%) | W 1 chorobie |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Czasami (5–29%) | W 1 chorobie |
| PURApurine rich element binding protein A | Czasami (5–29%) | W 1 chorobie |
| RELREL proto-oncogene, NF-kB subunit | Czasami (5–29%) | W 1 chorobie |
| RHOBTB2Rho related BTB domain containing 2 | Czasami (5–29%) | W 1 chorobie |
| RNU4-2RNA, U4 small nuclear 2 | Czasami (5–29%) | W 1 chorobie |
| SATB1SATB homeobox 1 | Czasami (5–29%) | W 1 chorobie |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Czasami (5–29%) | W 2 chorobach |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Czasami (5–29%) | W 1 chorobie |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Czasami (5–29%) | W 1 chorobie |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Czasami (5–29%) | W 1 chorobie |
| SETD5SET domain containing 5 | Czasami (5–29%) | W 1 chorobie |
| SGSM3small G protein signaling modulator 3 | Czasami (5–29%) | W 1 chorobie |
| SIN3ASIN3 transcription regulator family member A | Czasami (5–29%) | W 1 chorobie |
| SLC13A5solute carrier family 13 member 5 | Czasami (5–29%) | W 1 chorobie |
| SLC1A2solute carrier family 1 member 2 | Czasami (5–29%) | W 1 chorobie |
| SLC1A3solute carrier family 1 member 3 | Czasami (5–29%) | W 1 chorobie |
| SLC2A1solute carrier family 2 member 1 | Czasami (5–29%) | W 1 chorobie |
| SLC38A3solute carrier family 38 member 3 | Czasami (5–29%) | W 1 chorobie |
| SOX6SRY-box transcription factor 6 | Czasami (5–29%) | W 1 chorobie |
| STRADASTE20 related adaptor alpha | Czasami (5–29%) | W 1 chorobie |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Czasami (5–29%) | W 1 chorobie |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Czasami (5–29%) | W 1 chorobie |
| SYNJ1synaptojanin 1 | Czasami (5–29%) | W 1 chorobie |
| SZT2SZT2 subunit of KICSTOR complex | Czasami (5–29%) | W 2 chorobach |
| THOC2THO complex subunit 2 | Czasami (5–29%) | W 1 chorobie |
| TRAK1trafficking kinesin protein 1 | Czasami (5–29%) | W 1 chorobie |
| TRIP13thyroid hormone receptor interactor 13 | Czasami (5–29%) | W 1 chorobie |
| TRPV6transient receptor potential cation channel subfamily V member 6 | Czasami (5–29%) | W 1 chorobie |
| UBA5ubiquitin like modifier activating enzyme 5 | Czasami (5–29%) | W 1 chorobie |
| UBE2Aubiquitin conjugating enzyme E2 A | Czasami (5–29%) | W 1 chorobie |
| UFSP2UFM1 specific peptidase 2 | Czasami (5–29%) | W 1 chorobie |
| XPO1exportin 1 | Czasami (5–29%) | W 1 chorobie |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Czasami (5–29%) | W 1 chorobie |
| ZIC2Zic family zinc finger 2 | Czasami (5–29%) | W 1 chorobie |
| ZRSR2zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 | Czasami (5–29%) | W 1 chorobie |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Rzadko (1–4%) | W 1 chorobie |
| MMACHCmetabolism of cobalamin associated C | Rzadko (1–4%) | W 2 chorobach |
| NEU1neuraminidase 1 | 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 |
| AGO1argonaute RISC component 1 | Nie odnotowano | W 1 chorobie |
| ARXaristaless related homeobox | Nie odnotowano | W 1 chorobie |
| ATN1atrophin 1 | Nie odnotowano | W 1 chorobie |
| BMP4bone morphogenetic protein 4 | Nie odnotowano | W 1 chorobie |
| CAMK2Gcalcium/calmodulin dependent protein kinase II gamma | Nie odnotowano | W 1 chorobie |
| CCN2cellular communication network factor 2 | Nie odnotowano | W 1 chorobie |
| CPT2carnitine palmitoyltransferase 2 | Nie odnotowano | W 1 chorobie |
| CTNND1catenin delta 1 | Nie odnotowano | W 1 chorobie |
| CUL4Bcullin 4B | Nie odnotowano | W 1 chorobie |
| ETFAelectron transfer flavoprotein subunit alpha | Nie odnotowano | W 1 chorobie |
| ETFBelectron transfer flavoprotein subunit beta | Nie odnotowano | W 1 chorobie |
| ETFDHelectron transfer flavoprotein dehydrogenase | Nie odnotowano | W 1 chorobie |
| FBXO11F-box protein 11 | Nie odnotowano | W 1 chorobie |
| GALNT2polypeptide N-acetylgalactosaminyltransferase 2 | Nie odnotowano | W 1 chorobie |
| GMNNgeminin DNA replication inhibitor | Nie odnotowano | W 1 chorobie |
| GNPATglyceronephosphate O-acyltransferase | Nie odnotowano | W 1 chorobie |
| LBRlamin B receptor | Nie odnotowano | W 1 chorobie |
| MDH1malate dehydrogenase 1 | Nie odnotowano | W 1 chorobie |
| MTM1myotubularin 1 | Nie odnotowano | W 1 chorobie |
| NFIBnuclear factor I B | Nie odnotowano | W 1 chorobie |
| PRDX1peroxiredoxin 1 | Nie odnotowano | W 1 chorobie |
| SERPINH1serpin family H member 1 | Nie odnotowano | W 1 chorobie |
| SETBP1SET binding protein 1 | Nie odnotowano | W 1 chorobie |
| SETD2SET domain containing 2, histone lysine methyltransferase | Nie odnotowano | W 1 chorobie |
| SOX9SRY-box transcription factor 9 | Nie odnotowano | W 1 chorobie |
| SYT1synaptotagmin 1 | Nie odnotowano | W 1 chorobie |
| TCF20transcription factor 20 | Nie odnotowano | W 1 chorobie |
| TET3tet methylcytosine dioxygenase 3 | Nie odnotowano | W 1 chorobie |
| TMEM237transmembrane protein 237 | Nie odnotowano | W 1 chorobie |
| TP63tumor protein p63 | Nie odnotowano | W 1 chorobie |
| UNC80unc-80 subunit of NALCN channel complex | Nie odnotowano | W 1 chorobie |
| WASHC5WASH complex subunit 5 | Nie odnotowano | W 1 chorobie |
| WDR35WD repeat domain 35 | Nie odnotowano | W 1 chorobie |
| WNK3WNK lysine deficient protein kinase 3 | Nie odnotowano | W 1 chorobie |
| XRCC4X-ray repair cross complementing 4 | Nie odnotowano | W 1 chorobie |
| ZC4H2zinc finger C4H2-type containing | Nie odnotowano | W 1 chorobie |
Jak często występuje wśród osób z jedną z chorób związanych z tym genem, najczęściej spośród wszystkich, według danych Human Phenotype Ontology. Te strony opisują cechy i badania, na których się opierają; nie są diagnozą, a w sprawie objawów należy zwrócić się do lekarza lub doradcy genetycznego.
Cechy 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.
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