Tunnus
High forehead
An abnormally increased height of the forehead.
Kokkuvõte
- Teised nimetused
- Tall forehead
- Kehasüsteem
- Abnormality of head or neck
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to High forehead, and the rest of your genome, with one test.
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Telli oma Genome Test346 geeni on seotud tunnusega High forehead
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb High forehead. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| ACTBactin beta | Alati | Esineb 2 haiguses |
| AHDC1AT-hook DNA binding motif containing 1 | Alati | Esineb 1 haiguses |
| ALDH6A1aldehyde dehydrogenase 6 family member A1 | Alati | Esineb 1 haiguses |
| AP1S1adaptor related protein complex 1 subunit sigma 1 | Alati | Esineb 1 haiguses |
| ARID2AT-rich interaction domain 2 | Alati | Esineb 1 haiguses |
| ATP6AP1ATPase H+ transporting accessory protein 1 | Alati | Esineb 1 haiguses |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Alati | Esineb 2 haiguses |
| BNIP1BCL2 interacting protein 1 | Alati | Esineb 1 haiguses |
| C1GALT1C1C1GALT1 specific chaperone 1 | Alati | Esineb 1 haiguses |
| CDH1cadherin 1 | Alati | Esineb 1 haiguses |
| CPAPcentrosome assembly and centriole elongation protein | Alati | Esineb 1 haiguses |
| CRIPTCXXC repeat containing interactor of PDZ3 domain | Alati | Esineb 1 haiguses |
| DONSONDNA replication fork stabilization factor DONSON | Alati | Esineb 1 haiguses |
| DVL1dishevelled segment polarity protein 1 | Alati | Esineb 1 haiguses |
| EXOSC1exosome component 1 | Alati | Esineb 1 haiguses |
| GH1growth hormone 1 | Alati | Esineb 1 haiguses |
| GON4Lgon-4 like | Alati | Esineb 1 haiguses |
| HNRNPH1heterogeneous nuclear ribonucleoprotein H1 | Alati | Esineb 1 haiguses |
| IFT122intraflagellar transport 122 | Alati | Esineb 1 haiguses |
| IFT140intraflagellar transport 140 | Alati | Esineb 2 haiguses |
| IFT52intraflagellar transport 52 | Alati | Esineb 1 haiguses |
| IGBP1immunoglobulin binding protein 1 | Alati | Esineb 2 haiguses |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Alati | Esineb 1 haiguses |
| KDM6Blysine demethylase 6B | Alati | Esineb 1 haiguses |
| MTORmechanistic target of rapamycin kinase | Alati | Esineb 1 haiguses |
| NFIXnuclear factor I X | Alati | Esineb 3 haiguses |
| NRASNRAS proto-oncogene, GTPase | Alati | Esineb 2 haiguses |
| NSD1nuclear receptor binding SET domain protein 1 | Alati | Esineb 1 haiguses |
| NSD2nuclear receptor binding SET domain protein 2 | Alati | Esineb 3 haiguses |
| NXNnucleoredoxin | Alati | Esineb 1 haiguses |
| ODC1ornithine decarboxylase 1 | Alati | Esineb 1 haiguses |
| PEX12peroxisomal biogenesis factor 12 | Alati | Esineb 3 haiguses |
| PEX14peroxisomal biogenesis factor 14 | Alati | Esineb 3 haiguses |
| PEX26peroxisomal biogenesis factor 26 | Alati | Esineb 3 haiguses |
| PEX3peroxisomal biogenesis factor 3 | Alati | Esineb 4 haiguses |
| POC1APOC1 centriolar protein A | Alati | Esineb 1 haiguses |
| PPFIA3PPFI scaffold protein A3 | Alati | Esineb 1 haiguses |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Alati | Esineb 1 haiguses |
| RAP1GDS1Rap1 GTPase-GDP dissociation stimulator 1 | Alati | Esineb 1 haiguses |
| RIN2Ras and Rab interactor 2 | Alati | Esineb 1 haiguses |
Näita veel 306 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| RNF113Aring finger protein 113A | Alati | Esineb 1 haiguses |
| RPL17ribosomal protein L17 | Alati | Esineb 1 haiguses |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Alati | Esineb 1 haiguses |
| SCUBE3signal peptide, CUB domain and EGF like domain containing 3 | Alati | Esineb 1 haiguses |
| SPOUT1SPOUT domain containing methyltransferase 1 | Alati | Esineb 1 haiguses |
| TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase | Alati | Esineb 1 haiguses |
| THOC6THO complex subunit 6 | Alati | Esineb 2 haiguses |
| TRA2Btransformer 2 beta homolog | Alati | Esineb 1 haiguses |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Alati | Esineb 3 haiguses |
| UBA2ubiquitin like modifier activating enzyme 2 | Alati | Esineb 1 haiguses |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Alati | Esineb 1 haiguses |
| UNC13Aunc-13 homolog A | Alati | Esineb 2 haiguses |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Alati | Esineb 1 haiguses |
| WWOXWW domain containing oxidoreductase | Alati | Esineb 1 haiguses |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Alati | Esineb 1 haiguses |
| ANKRD11ankyrin repeat domain 11 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ANTXR1ANTXR cell adhesion molecule 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Väga sageli (80–99%) | Esineb 1 haiguses |
| BCORL1BCL6 corepressor like 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Väga sageli (80–99%) | Esineb 2 haiguses |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Väga sageli (80–99%) | Esineb 1 haiguses |
| CBLCbl proto-oncogene | Väga sageli (80–99%) | Esineb 1 haiguses |
| CDH11cadherin 11 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CILK1ciliogenesis associated kinase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CLIP2CAP-Gly domain containing linker protein 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CPLX1complexin 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| CTBP1C-terminal binding protein 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Väga sageli (80–99%) | Esineb 1 haiguses |
| EIF4Heukaryotic translation initiation factor 4H | Väga sageli (80–99%) | Esineb 1 haiguses |
| ELNelastin | Väga sageli (80–99%) | Esineb 1 haiguses |
| EPB41L1erythrocyte membrane protein band 4.1 like 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| FGFR1fibroblast growth factor receptor 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| FGFR2fibroblast growth factor receptor 2 | Väga sageli (80–99%) | Esineb 9 haiguses |
| FGFR3fibroblast growth factor receptor 3 | Väga sageli (80–99%) | Esineb 2 haiguses |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Väga sageli (80–99%) | Esineb 1 haiguses |
| GHRgrowth hormone receptor | Väga sageli (80–99%) | Esineb 1 haiguses |
| GTF2Igeneral transcription factor IIi | Väga sageli (80–99%) | Esineb 1 haiguses |
| GTF2IRD1GTF2I repeat domain containing 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GTF2IRD2GTF2I repeat domain containing 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GTPBP2GTP binding protein 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| HIC1HIC ZBTB transcriptional repressor 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| KRASKRas proto-oncogene, GTPase | Väga sageli (80–99%) | Esineb 2 haiguses |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| LIMK1LIM domain kinase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| LRP5LDL receptor related protein 5 | Väga sageli (80–99%) | Esineb 1 haiguses |
| LZTR1leucine zipper like post translational regulator 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MED12mediator complex subunit 12 | Väga sageli (80–99%) | Esineb 2 haiguses |
| MEF2Cmyocyte enhancer factor 2C | Väga sageli (80–99%) | Esineb 1 haiguses |
| METTL27methyltransferase like 27 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MRASmuscle RAS oncogene homolog | Väga sageli (80–99%) | Esineb 2 haiguses |
| NCF1neutrophil cytosolic factor 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NELFAnegative elongation factor complex member A | Väga sageli (80–99%) | Esineb 1 haiguses |
| ORAI1ORAI calcium release-activated calcium modulator 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| PEX1peroxisomal biogenesis factor 1 | Väga sageli (80–99%) | Esineb 3 haiguses |
| PEX10peroxisomal biogenesis factor 10 | Väga sageli (80–99%) | Esineb 2 haiguses |
| PEX11Bperoxisomal biogenesis factor 11 beta | Väga sageli (80–99%) | Esineb 2 haiguses |
| PEX13peroxisomal biogenesis factor 13 | Väga sageli (80–99%) | Esineb 3 haiguses |
| PEX16peroxisomal biogenesis factor 16 | Väga sageli (80–99%) | Esineb 2 haiguses |
| PEX19peroxisomal biogenesis factor 19 | Väga sageli (80–99%) | Esineb 2 haiguses |
| PEX2peroxisomal biogenesis factor 2 | Väga sageli (80–99%) | Esineb 3 haiguses |
| PEX5peroxisomal biogenesis factor 5 | Väga sageli (80–99%) | Esineb 4 haiguses |
| PEX6peroxisomal biogenesis factor 6 | Väga sageli (80–99%) | Esineb 2 haiguses |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Väga sageli (80–99%) | Esineb 1 haiguses |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Väga sageli (80–99%) | Esineb 2 haiguses |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Väga sageli (80–99%) | Esineb 1 haiguses |
| RASA2RAS p21 protein activator 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RFC2replication factor C subunit 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RIT1Ras like without CAAX 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RRASRAS related | Väga sageli (80–99%) | Esineb 1 haiguses |
| RRAS2RAS related 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SIX2SIX homeobox 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SPRED2sprouty related EVH1 domain containing 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| STIM1stromal interaction molecule 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| STX1Asyntaxin 1A | Väga sageli (80–99%) | Esineb 1 haiguses |
| TBCEtubulin folding cofactor E | Väga sageli (80–99%) | Esineb 1 haiguses |
| TBL2transducin beta like 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TMEM270transmembrane protein 270 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TWIST1twist family bHLH transcription factor 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Väga sageli (80–99%) | Esineb 1 haiguses |
| VPS37DVPS37D subunit of ESCRT-I | Väga sageli (80–99%) | Esineb 1 haiguses |
| WDR37WD repeat domain 37 | Väga sageli (80–99%) | Esineb 1 haiguses |
| YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | Väga sageli (80–99%) | Esineb 2 haiguses |
| ZDHHC9zDHHC palmitoyltransferase 9 | Väga sageli (80–99%) | Esineb 1 haiguses |
| AKT3AKT serine/threonine kinase 3 | Sageli (30–79%) | Esineb 1 haiguses |
| ALG11ALG11 alpha-1,2-mannosyltransferase | Sageli (30–79%) | Esineb 2 haiguses |
| APCAPC regulator of Wnt signaling pathway | Sageli (30–79%) | Esineb 1 haiguses |
| BPNT23'(2'), 5'-bisphosphate nucleotidase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| CCND2cyclin D2 | Sageli (30–79%) | Esineb 1 haiguses |
| EBF3EBF transcription factor 3 | Sageli (30–79%) | Esineb 1 haiguses |
| FBN1fibrillin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| FBXO22F-box protein 22 | Sageli (30–79%) | Esineb 1 haiguses |
| FGFRL1fibroblast growth factor receptor like 1 | Sageli (30–79%) | Esineb 1 haiguses |
| FIG4FIG4 phosphoinositide 5-phosphatase | Sageli (30–79%) | Esineb 1 haiguses |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Sageli (30–79%) | Esineb 1 haiguses |
| FUT8fucosyltransferase 8 | Sageli (30–79%) | Esineb 1 haiguses |
| GATA4GATA binding protein 4 | Sageli (30–79%) | Esineb 1 haiguses |
| GJA1gap junction protein alpha 1 | Sageli (30–79%) | Esineb 1 haiguses |
| GLI3GLI family zinc finger 3 | Sageli (30–79%) | Esineb 2 haiguses |
| GTF3C3general transcription factor IIIC subunit 3 | Sageli (30–79%) | Esineb 1 haiguses |
| GTPBP1GTP binding protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| HBA1hemoglobin subunit alpha 1 | Sageli (30–79%) | Esineb 1 haiguses |
| HBA2hemoglobin subunit alpha 2 | Sageli (30–79%) | Esineb 1 haiguses |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Sageli (30–79%) | Esineb 1 haiguses |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| IL11RAinterleukin 11 receptor subunit alpha | Sageli (30–79%) | Esineb 1 haiguses |
| INPPL1inositol polyphosphate phosphatase like 1 | Sageli (30–79%) | Esineb 1 haiguses |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Sageli (30–79%) | Esineb 1 haiguses |
| KDM6Alysine demethylase 6A | Sageli (30–79%) | Esineb 1 haiguses |
| KMT2Dlysine methyltransferase 2D | Sageli (30–79%) | Esineb 2 haiguses |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Sageli (30–79%) | Esineb 1 haiguses |
| MADDMAP kinase activating death domain | Sageli (30–79%) | Esineb 2 haiguses |
| MAFMAF bZIP transcription factor | Sageli (30–79%) | Esineb 2 haiguses |
| MAN2C1mannosidase alpha class 2C member 1 | Sageli (30–79%) | Esineb 1 haiguses |
| MAP2K1mitogen-activated protein kinase kinase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| MAP2K2mitogen-activated protein kinase kinase 2 | Sageli (30–79%) | Esineb 2 haiguses |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Sageli (30–79%) | Esineb 2 haiguses |
| MED25mediator complex subunit 25 | Sageli (30–79%) | Esineb 1 haiguses |
| MYOD1myogenic differentiation 1 | Sageli (30–79%) | Esineb 1 haiguses |
| NSRP1nuclear speckle splicing regulatory protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PDCD6IPprogrammed cell death 6 interacting protein | Sageli (30–79%) | Esineb 1 haiguses |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Sageli (30–79%) | Esineb 2 haiguses |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Sageli (30–79%) | Esineb 1 haiguses |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Sageli (30–79%) | Esineb 1 haiguses |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Sageli (30–79%) | Esineb 1 haiguses |
| PIK3R2phosphoinositide-3-kinase regulatory subunit 2 | Sageli (30–79%) | Esineb 1 haiguses |
| POLR2ARNA polymerase II subunit A | Sageli (30–79%) | Esineb 1 haiguses |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Sageli (30–79%) | Esineb 1 haiguses |
| RBM8ARNA binding motif protein 8A | Sageli (30–79%) | Esineb 1 haiguses |
| SATB2SATB homeobox 2 | Sageli (30–79%) | Esineb 3 haiguses |
| SCNM1sodium channel modifier 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SETD1ASET domain containing 1A, histone lysine methyltransferase | Sageli (30–79%) | Esineb 1 haiguses |
| SH3PXD2BSH3 and PX domains 2B | Sageli (30–79%) | Esineb 1 haiguses |
| SHPKsedoheptulokinase | Sageli (30–79%) | Esineb 1 haiguses |
| SKISKI proto-oncogene | Sageli (30–79%) | Esineb 1 haiguses |
| SMAD3SMAD family member 3 | Sageli (30–79%) | Esineb 1 haiguses |
| TAOK1TAO kinase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TBL1XR1TBL1X/Y related 1 | Sageli (30–79%) | Esineb 2 haiguses |
| TBX1T-box transcription factor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TRIOtrio Rho guanine nucleotide exchange factor | Sageli (30–79%) | Esineb 2 haiguses |
| TSHZ3teashirt zinc finger homeobox 3 | Sageli (30–79%) | Esineb 1 haiguses |
| VAC14VAC14 component of PIKFYVE complex | Sageli (30–79%) | Esineb 1 haiguses |
| WLSWnt ligand secretion mediator | Sageli (30–79%) | Esineb 1 haiguses |
| ZIC1Zic family zinc finger 1 | Sageli (30–79%) | Esineb 2 haiguses |
| AARS1alanyl-tRNA synthetase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ACTL6Bactin like 6B | Mõnikord (5–29%) | Esineb 1 haiguses |
| ADAT3adenosine deaminase tRNA specific 3 | Mõnikord (5–29%) | Esineb 2 haiguses |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATAD3AATPase family AAA domain containing 3A | Mõnikord (5–29%) | Esineb 2 haiguses |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Mõnikord (5–29%) | Esineb 2 haiguses |
| ATP6V1AATPase H+ transporting V1 subunit A | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATP7AATPase copper transporting alpha | Mõnikord (5–29%) | Esineb 2 haiguses |
| BCL11ABCL11 transcription factor A | Mõnikord (5–29%) | Esineb 1 haiguses |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Mõnikord (5–29%) | Esineb 2 haiguses |
| BUB3BUB3 mitotic checkpoint protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| CACHD1cache domain containing 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Mõnikord (5–29%) | Esineb 2 haiguses |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Mõnikord (5–29%) | Esineb 1 haiguses |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CARS1cysteinyl-tRNA synthetase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CDC42BPBCDC42 binding protein kinase beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| CDK19cyclin dependent kinase 19 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CDKL5cyclin dependent kinase like 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CELF2CUGBP Elav-like family member 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CEP57centrosomal protein 57 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CLTCclathrin heavy chain | Mõnikord (5–29%) | Esineb 1 haiguses |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| COX7Bcytochrome c oxidase subunit 7B | Mõnikord (5–29%) | Esineb 1 haiguses |
| CTCFCCCTC-binding factor | Mõnikord (5–29%) | Esineb 2 haiguses |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DALRD3DALR anticodon binding domain containing 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| DHX30DExH-box helicase 30 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DNM1dynamin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DOT1LDOT1 like histone lysine methyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| DPH5diphthamide biosynthesis 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DVL3dishevelled segment polarity protein 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| EXT2exostosin glycosyltransferase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FBXO28F-box protein 28 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FGF12fibroblast growth factor 12 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FOCADfocadhesin | Mõnikord (5–29%) | Esineb 1 haiguses |
| FOXG1forkhead box G1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FRA10AC1FRA10A associated CGG repeat 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FRMPD4FERM and PDZ domain containing 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FZR1fizzy and cell division cycle 20 related 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GNB2G protein subunit beta 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Mõnikord (5–29%) | Esineb 1 haiguses |
| H3-3AH3.3 histone A | Mõnikord (5–29%) | Esineb 1 haiguses |
| H3-3BH3.3 histone B | Mõnikord (5–29%) | Esineb 1 haiguses |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HIVEP2HIVEP zinc finger 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KDM2Blysine demethylase 2B | Mõnikord (5–29%) | Esineb 1 haiguses |
| KMT2Alysine methyltransferase 2A | Mõnikord (5–29%) | Esineb 1 haiguses |
| KMT5Blysine methyltransferase 5B | Mõnikord (5–29%) | Esineb 1 haiguses |
| LMX1BLIM homeobox transcription factor 1 beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAPK1mitogen-activated protein kinase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MARK2microtubule affinity regulating kinase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MED12Lmediator complex subunit 12L | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MTX2metaxin 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| NECAP1NECAP endocytosis associated 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NPHP3nephrocystin 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| PACS2phosphofurin acidic cluster sorting protein 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Mõnikord (5–29%) | Esineb 1 haiguses |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Mõnikord (5–29%) | Esineb 1 haiguses |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Mõnikord (5–29%) | Esineb 1 haiguses |
| PURApurine rich element binding protein A | Mõnikord (5–29%) | Esineb 1 haiguses |
| RELREL proto-oncogene, NF-kB subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| RHOBTB2Rho related BTB domain containing 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNU4-2RNA, U4 small nuclear 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SATB1SATB homeobox 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SETD5SET domain containing 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SGSM3small G protein signaling modulator 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SIN3ASIN3 transcription regulator family member A | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC13A5solute carrier family 13 member 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC1A2solute carrier family 1 member 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC1A3solute carrier family 1 member 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC2A1solute carrier family 2 member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC38A3solute carrier family 38 member 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SOX6SRY-box transcription factor 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| STRADASTE20 related adaptor alpha | Mõnikord (5–29%) | Esineb 1 haiguses |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SYNJ1synaptojanin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SZT2SZT2 subunit of KICSTOR complex | Mõnikord (5–29%) | Esineb 2 haiguses |
| THOC2THO complex subunit 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRAK1trafficking kinesin protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRIP13thyroid hormone receptor interactor 13 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRPV6transient receptor potential cation channel subfamily V member 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| UBA5ubiquitin like modifier activating enzyme 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| UBE2Aubiquitin conjugating enzyme E2 A | Mõnikord (5–29%) | Esineb 1 haiguses |
| UFSP2UFM1 specific peptidase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| XPO1exportin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZIC2Zic family zinc finger 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZRSR2zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Harva (1–4%) | Esineb 1 haiguses |
| MMACHCmetabolism of cobalamin associated C | Harva (1–4%) | Esineb 2 haiguses |
| NEU1neuraminidase 1 | Harva (1–4%) | Esineb 1 haiguses |
| PTBP1polypyrimidine tract binding protein 1 | Harva (1–4%) | Esineb 1 haiguses |
| SPTBN1spectrin beta, non-erythrocytic 1 | Harva (1–4%) | Esineb 1 haiguses |
| AGO1argonaute RISC component 1 | Pole registreeritud | Esineb 1 haiguses |
| ARXaristaless related homeobox | Pole registreeritud | Esineb 1 haiguses |
| ATN1atrophin 1 | Pole registreeritud | Esineb 1 haiguses |
| BMP4bone morphogenetic protein 4 | Pole registreeritud | Esineb 1 haiguses |
| CAMK2Gcalcium/calmodulin dependent protein kinase II gamma | Pole registreeritud | Esineb 1 haiguses |
| CCN2cellular communication network factor 2 | Pole registreeritud | Esineb 1 haiguses |
| CPT2carnitine palmitoyltransferase 2 | Pole registreeritud | Esineb 1 haiguses |
| CTNND1catenin delta 1 | Pole registreeritud | Esineb 1 haiguses |
| CUL4Bcullin 4B | Pole registreeritud | Esineb 1 haiguses |
| ETFAelectron transfer flavoprotein subunit alpha | Pole registreeritud | Esineb 1 haiguses |
| ETFBelectron transfer flavoprotein subunit beta | Pole registreeritud | Esineb 1 haiguses |
| ETFDHelectron transfer flavoprotein dehydrogenase | Pole registreeritud | Esineb 1 haiguses |
| FBXO11F-box protein 11 | Pole registreeritud | Esineb 1 haiguses |
| GALNT2polypeptide N-acetylgalactosaminyltransferase 2 | Pole registreeritud | Esineb 1 haiguses |
| GMNNgeminin DNA replication inhibitor | Pole registreeritud | Esineb 1 haiguses |
| GNPATglyceronephosphate O-acyltransferase | Pole registreeritud | Esineb 1 haiguses |
| LBRlamin B receptor | Pole registreeritud | Esineb 1 haiguses |
| MDH1malate dehydrogenase 1 | Pole registreeritud | Esineb 1 haiguses |
| MTM1myotubularin 1 | Pole registreeritud | Esineb 1 haiguses |
| NFIBnuclear factor I B | Pole registreeritud | Esineb 1 haiguses |
| PRDX1peroxiredoxin 1 | Pole registreeritud | Esineb 1 haiguses |
| SERPINH1serpin family H member 1 | Pole registreeritud | Esineb 1 haiguses |
| SETBP1SET binding protein 1 | Pole registreeritud | Esineb 1 haiguses |
| SETD2SET domain containing 2, histone lysine methyltransferase | Pole registreeritud | Esineb 1 haiguses |
| SOX9SRY-box transcription factor 9 | Pole registreeritud | Esineb 1 haiguses |
| SYT1synaptotagmin 1 | Pole registreeritud | Esineb 1 haiguses |
| TCF20transcription factor 20 | Pole registreeritud | Esineb 1 haiguses |
| TET3tet methylcytosine dioxygenase 3 | Pole registreeritud | Esineb 1 haiguses |
| TMEM237transmembrane protein 237 | Pole registreeritud | Esineb 1 haiguses |
| TP63tumor protein p63 | Pole registreeritud | Esineb 1 haiguses |
| UNC80unc-80 subunit of NALCN channel complex | Pole registreeritud | Esineb 1 haiguses |
| WASHC5WASH complex subunit 5 | Pole registreeritud | Esineb 1 haiguses |
| WDR35WD repeat domain 35 | Pole registreeritud | Esineb 1 haiguses |
| WNK3WNK lysine deficient protein kinase 3 | Pole registreeritud | Esineb 1 haiguses |
| XRCC4X-ray repair cross complementing 4 | Pole registreeritud | Esineb 1 haiguses |
| ZC4H2zinc finger C4H2-type containing | Pole registreeritud | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Laiemad tunnused
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.16-c6eea6bf.
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast