Požymis
High forehead
An abnormally increased height of the forehead.
Santrauka
- Taip pat vadinama
- Tall forehead
- Kūno sistema
- Abnormality of head or neck
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
Read the genes linked to High forehead, and the rest of your genome, with one test.
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Įsigyti savo Genome Test346 genų susiję su High forehead
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia High forehead. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| ACTBactin beta | Visada | 2 ligose |
| AHDC1AT-hook DNA binding motif containing 1 | Visada | 1 ligoje |
| ALDH6A1aldehyde dehydrogenase 6 family member A1 | Visada | 1 ligoje |
| AP1S1adaptor related protein complex 1 subunit sigma 1 | Visada | 1 ligoje |
| ARID2AT-rich interaction domain 2 | Visada | 1 ligoje |
| ATP6AP1ATPase H+ transporting accessory protein 1 | Visada | 1 ligoje |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Visada | 2 ligose |
| BNIP1BCL2 interacting protein 1 | Visada | 1 ligoje |
| C1GALT1C1C1GALT1 specific chaperone 1 | Visada | 1 ligoje |
| CDH1cadherin 1 | Visada | 1 ligoje |
| CPAPcentrosome assembly and centriole elongation protein | Visada | 1 ligoje |
| CRIPTCXXC repeat containing interactor of PDZ3 domain | Visada | 1 ligoje |
| DONSONDNA replication fork stabilization factor DONSON | Visada | 1 ligoje |
| DVL1dishevelled segment polarity protein 1 | Visada | 1 ligoje |
| EXOSC1exosome component 1 | Visada | 1 ligoje |
| GH1growth hormone 1 | Visada | 1 ligoje |
| GON4Lgon-4 like | Visada | 1 ligoje |
| HNRNPH1heterogeneous nuclear ribonucleoprotein H1 | Visada | 1 ligoje |
| IFT122intraflagellar transport 122 | Visada | 1 ligoje |
| IFT140intraflagellar transport 140 | Visada | 2 ligose |
| IFT52intraflagellar transport 52 | Visada | 1 ligoje |
| IGBP1immunoglobulin binding protein 1 | Visada | 2 ligose |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Visada | 1 ligoje |
| KDM6Blysine demethylase 6B | Visada | 1 ligoje |
| MTORmechanistic target of rapamycin kinase | Visada | 1 ligoje |
| NFIXnuclear factor I X | Visada | 3 ligose |
| NRASNRAS proto-oncogene, GTPase | Visada | 2 ligose |
| NSD1nuclear receptor binding SET domain protein 1 | Visada | 1 ligoje |
| NSD2nuclear receptor binding SET domain protein 2 | Visada | 3 ligose |
| NXNnucleoredoxin | Visada | 1 ligoje |
| ODC1ornithine decarboxylase 1 | Visada | 1 ligoje |
| PEX12peroxisomal biogenesis factor 12 | Visada | 3 ligose |
| PEX14peroxisomal biogenesis factor 14 | Visada | 3 ligose |
| PEX26peroxisomal biogenesis factor 26 | Visada | 3 ligose |
| PEX3peroxisomal biogenesis factor 3 | Visada | 4 ligose |
| POC1APOC1 centriolar protein A | Visada | 1 ligoje |
| PPFIA3PPFI scaffold protein A3 | Visada | 1 ligoje |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Visada | 1 ligoje |
| RAP1GDS1Rap1 GTPase-GDP dissociation stimulator 1 | Visada | 1 ligoje |
| RIN2Ras and Rab interactor 2 | Visada | 1 ligoje |
Rodyti dar 306 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| RNF113Aring finger protein 113A | Visada | 1 ligoje |
| RPL17ribosomal protein L17 | Visada | 1 ligoje |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Visada | 1 ligoje |
| SCUBE3signal peptide, CUB domain and EGF like domain containing 3 | Visada | 1 ligoje |
| SPOUT1SPOUT domain containing methyltransferase 1 | Visada | 1 ligoje |
| TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase | Visada | 1 ligoje |
| THOC6THO complex subunit 6 | Visada | 2 ligose |
| TRA2Btransformer 2 beta homolog | Visada | 1 ligoje |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Visada | 3 ligose |
| UBA2ubiquitin like modifier activating enzyme 2 | Visada | 1 ligoje |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Visada | 1 ligoje |
| UNC13Aunc-13 homolog A | Visada | 2 ligose |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Visada | 1 ligoje |
| WWOXWW domain containing oxidoreductase | Visada | 1 ligoje |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Visada | 1 ligoje |
| ANKRD11ankyrin repeat domain 11 | Labai dažnai (80–99%) | 1 ligoje |
| ANTXR1ANTXR cell adhesion molecule 1 | Labai dažnai (80–99%) | 1 ligoje |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Labai dažnai (80–99%) | 1 ligoje |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Labai dažnai (80–99%) | 1 ligoje |
| BCORL1BCL6 corepressor like 1 | Labai dažnai (80–99%) | 1 ligoje |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Labai dažnai (80–99%) | 2 ligose |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Labai dažnai (80–99%) | 1 ligoje |
| CBLCbl proto-oncogene | Labai dažnai (80–99%) | 1 ligoje |
| CDH11cadherin 11 | Labai dažnai (80–99%) | 1 ligoje |
| CILK1ciliogenesis associated kinase 1 | Labai dažnai (80–99%) | 1 ligoje |
| CLIP2CAP-Gly domain containing linker protein 2 | Labai dažnai (80–99%) | 1 ligoje |
| CPLX1complexin 1 | Labai dažnai (80–99%) | 2 ligose |
| CTBP1C-terminal binding protein 1 | Labai dažnai (80–99%) | 2 ligose |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Labai dažnai (80–99%) | 1 ligoje |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Labai dažnai (80–99%) | 1 ligoje |
| EIF4Heukaryotic translation initiation factor 4H | Labai dažnai (80–99%) | 1 ligoje |
| ELNelastin | Labai dažnai (80–99%) | 1 ligoje |
| EPB41L1erythrocyte membrane protein band 4.1 like 1 | Labai dažnai (80–99%) | 1 ligoje |
| FGFR1fibroblast growth factor receptor 1 | Labai dažnai (80–99%) | 1 ligoje |
| FGFR2fibroblast growth factor receptor 2 | Labai dažnai (80–99%) | 9 ligose |
| FGFR3fibroblast growth factor receptor 3 | Labai dažnai (80–99%) | 2 ligose |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Labai dažnai (80–99%) | 1 ligoje |
| GHRgrowth hormone receptor | Labai dažnai (80–99%) | 1 ligoje |
| GTF2Igeneral transcription factor IIi | Labai dažnai (80–99%) | 1 ligoje |
| GTF2IRD1GTF2I repeat domain containing 1 | Labai dažnai (80–99%) | 1 ligoje |
| GTF2IRD2GTF2I repeat domain containing 2 | Labai dažnai (80–99%) | 1 ligoje |
| GTPBP2GTP binding protein 2 | Labai dažnai (80–99%) | 1 ligoje |
| HIC1HIC ZBTB transcriptional repressor 1 | Labai dažnai (80–99%) | 1 ligoje |
| KRASKRas proto-oncogene, GTPase | Labai dažnai (80–99%) | 2 ligose |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Labai dažnai (80–99%) | 2 ligose |
| LIMK1LIM domain kinase 1 | Labai dažnai (80–99%) | 1 ligoje |
| LRP5LDL receptor related protein 5 | Labai dažnai (80–99%) | 1 ligoje |
| LZTR1leucine zipper like post translational regulator 1 | Labai dažnai (80–99%) | 1 ligoje |
| MED12mediator complex subunit 12 | Labai dažnai (80–99%) | 2 ligose |
| MEF2Cmyocyte enhancer factor 2C | Labai dažnai (80–99%) | 1 ligoje |
| METTL27methyltransferase like 27 | Labai dažnai (80–99%) | 1 ligoje |
| MRASmuscle RAS oncogene homolog | Labai dažnai (80–99%) | 2 ligose |
| NCF1neutrophil cytosolic factor 1 | Labai dažnai (80–99%) | 1 ligoje |
| NELFAnegative elongation factor complex member A | Labai dažnai (80–99%) | 1 ligoje |
| ORAI1ORAI calcium release-activated calcium modulator 1 | Labai dažnai (80–99%) | 1 ligoje |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Labai dažnai (80–99%) | 2 ligose |
| PEX1peroxisomal biogenesis factor 1 | Labai dažnai (80–99%) | 3 ligose |
| PEX10peroxisomal biogenesis factor 10 | Labai dažnai (80–99%) | 2 ligose |
| PEX11Bperoxisomal biogenesis factor 11 beta | Labai dažnai (80–99%) | 2 ligose |
| PEX13peroxisomal biogenesis factor 13 | Labai dažnai (80–99%) | 3 ligose |
| PEX16peroxisomal biogenesis factor 16 | Labai dažnai (80–99%) | 2 ligose |
| PEX19peroxisomal biogenesis factor 19 | Labai dažnai (80–99%) | 2 ligose |
| PEX2peroxisomal biogenesis factor 2 | Labai dažnai (80–99%) | 3 ligose |
| PEX5peroxisomal biogenesis factor 5 | Labai dažnai (80–99%) | 4 ligose |
| PEX6peroxisomal biogenesis factor 6 | Labai dažnai (80–99%) | 2 ligose |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Labai dažnai (80–99%) | 1 ligoje |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Labai dažnai (80–99%) | 2 ligose |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Labai dažnai (80–99%) | 1 ligoje |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Labai dažnai (80–99%) | 1 ligoje |
| RASA2RAS p21 protein activator 2 | Labai dažnai (80–99%) | 1 ligoje |
| RFC2replication factor C subunit 2 | Labai dažnai (80–99%) | 1 ligoje |
| RIT1Ras like without CAAX 1 | Labai dažnai (80–99%) | 1 ligoje |
| RRASRAS related | Labai dažnai (80–99%) | 1 ligoje |
| RRAS2RAS related 2 | Labai dažnai (80–99%) | 1 ligoje |
| SIX2SIX homeobox 2 | Labai dažnai (80–99%) | 1 ligoje |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Labai dažnai (80–99%) | 1 ligoje |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Labai dažnai (80–99%) | 1 ligoje |
| SPRED2sprouty related EVH1 domain containing 2 | Labai dažnai (80–99%) | 1 ligoje |
| STIM1stromal interaction molecule 1 | Labai dažnai (80–99%) | 1 ligoje |
| STX1Asyntaxin 1A | Labai dažnai (80–99%) | 1 ligoje |
| TBCEtubulin folding cofactor E | Labai dažnai (80–99%) | 1 ligoje |
| TBL2transducin beta like 2 | Labai dažnai (80–99%) | 1 ligoje |
| TMEM270transmembrane protein 270 | Labai dažnai (80–99%) | 1 ligoje |
| TWIST1twist family bHLH transcription factor 1 | Labai dažnai (80–99%) | 2 ligose |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Labai dažnai (80–99%) | 1 ligoje |
| VPS37DVPS37D subunit of ESCRT-I | Labai dažnai (80–99%) | 1 ligoje |
| WDR37WD repeat domain 37 | Labai dažnai (80–99%) | 1 ligoje |
| YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | Labai dažnai (80–99%) | 2 ligose |
| ZDHHC9zDHHC palmitoyltransferase 9 | Labai dažnai (80–99%) | 1 ligoje |
| AKT3AKT serine/threonine kinase 3 | Dažnai (30–79%) | 1 ligoje |
| ALG11ALG11 alpha-1,2-mannosyltransferase | Dažnai (30–79%) | 2 ligose |
| APCAPC regulator of Wnt signaling pathway | Dažnai (30–79%) | 1 ligoje |
| BPNT23'(2'), 5'-bisphosphate nucleotidase 2 | Dažnai (30–79%) | 1 ligoje |
| CCND2cyclin D2 | Dažnai (30–79%) | 1 ligoje |
| EBF3EBF transcription factor 3 | Dažnai (30–79%) | 1 ligoje |
| FBN1fibrillin 1 | Dažnai (30–79%) | 1 ligoje |
| FBXO22F-box protein 22 | Dažnai (30–79%) | 1 ligoje |
| FGFRL1fibroblast growth factor receptor like 1 | Dažnai (30–79%) | 1 ligoje |
| FIG4FIG4 phosphoinositide 5-phosphatase | Dažnai (30–79%) | 1 ligoje |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Dažnai (30–79%) | 1 ligoje |
| FUT8fucosyltransferase 8 | Dažnai (30–79%) | 1 ligoje |
| GATA4GATA binding protein 4 | Dažnai (30–79%) | 1 ligoje |
| GJA1gap junction protein alpha 1 | Dažnai (30–79%) | 1 ligoje |
| GLI3GLI family zinc finger 3 | Dažnai (30–79%) | 2 ligose |
| GTF3C3general transcription factor IIIC subunit 3 | Dažnai (30–79%) | 1 ligoje |
| GTPBP1GTP binding protein 1 | Dažnai (30–79%) | 1 ligoje |
| HBA1hemoglobin subunit alpha 1 | Dažnai (30–79%) | 1 ligoje |
| HBA2hemoglobin subunit alpha 2 | Dažnai (30–79%) | 1 ligoje |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Dažnai (30–79%) | 1 ligoje |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Dažnai (30–79%) | 1 ligoje |
| IL11RAinterleukin 11 receptor subunit alpha | Dažnai (30–79%) | 1 ligoje |
| INPPL1inositol polyphosphate phosphatase like 1 | Dažnai (30–79%) | 1 ligoje |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Dažnai (30–79%) | 1 ligoje |
| KDM6Alysine demethylase 6A | Dažnai (30–79%) | 1 ligoje |
| KMT2Dlysine methyltransferase 2D | Dažnai (30–79%) | 2 ligose |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Dažnai (30–79%) | 1 ligoje |
| MADDMAP kinase activating death domain | Dažnai (30–79%) | 2 ligose |
| MAFMAF bZIP transcription factor | Dažnai (30–79%) | 2 ligose |
| MAN2C1mannosidase alpha class 2C member 1 | Dažnai (30–79%) | 1 ligoje |
| MAP2K1mitogen-activated protein kinase kinase 1 | Dažnai (30–79%) | 1 ligoje |
| MAP2K2mitogen-activated protein kinase kinase 2 | Dažnai (30–79%) | 2 ligose |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Dažnai (30–79%) | 2 ligose |
| MED25mediator complex subunit 25 | Dažnai (30–79%) | 1 ligoje |
| MYOD1myogenic differentiation 1 | Dažnai (30–79%) | 1 ligoje |
| NSRP1nuclear speckle splicing regulatory protein 1 | Dažnai (30–79%) | 1 ligoje |
| PDCD6IPprogrammed cell death 6 interacting protein | Dažnai (30–79%) | 1 ligoje |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Dažnai (30–79%) | 2 ligose |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Dažnai (30–79%) | 1 ligoje |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Dažnai (30–79%) | 1 ligoje |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Dažnai (30–79%) | 1 ligoje |
| PIK3R2phosphoinositide-3-kinase regulatory subunit 2 | Dažnai (30–79%) | 1 ligoje |
| POLR2ARNA polymerase II subunit A | Dažnai (30–79%) | 1 ligoje |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Dažnai (30–79%) | 1 ligoje |
| RBM8ARNA binding motif protein 8A | Dažnai (30–79%) | 1 ligoje |
| SATB2SATB homeobox 2 | Dažnai (30–79%) | 3 ligose |
| SCNM1sodium channel modifier 1 | Dažnai (30–79%) | 1 ligoje |
| SETD1ASET domain containing 1A, histone lysine methyltransferase | Dažnai (30–79%) | 1 ligoje |
| SH3PXD2BSH3 and PX domains 2B | Dažnai (30–79%) | 1 ligoje |
| SHPKsedoheptulokinase | Dažnai (30–79%) | 1 ligoje |
| SKISKI proto-oncogene | Dažnai (30–79%) | 1 ligoje |
| SMAD3SMAD family member 3 | Dažnai (30–79%) | 1 ligoje |
| TAOK1TAO kinase 1 | Dažnai (30–79%) | 1 ligoje |
| TBL1XR1TBL1X/Y related 1 | Dažnai (30–79%) | 2 ligose |
| TBX1T-box transcription factor 1 | Dažnai (30–79%) | 1 ligoje |
| TRIOtrio Rho guanine nucleotide exchange factor | Dažnai (30–79%) | 2 ligose |
| TSHZ3teashirt zinc finger homeobox 3 | Dažnai (30–79%) | 1 ligoje |
| VAC14VAC14 component of PIKFYVE complex | Dažnai (30–79%) | 1 ligoje |
| WLSWnt ligand secretion mediator | Dažnai (30–79%) | 1 ligoje |
| ZIC1Zic family zinc finger 1 | Dažnai (30–79%) | 2 ligose |
| AARS1alanyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| ACTL6Bactin like 6B | Kartais (5–29%) | 1 ligoje |
| ADAT3adenosine deaminase tRNA specific 3 | Kartais (5–29%) | 2 ligose |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Kartais (5–29%) | 1 ligoje |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Kartais (5–29%) | 1 ligoje |
| ATAD3AATPase family AAA domain containing 3A | Kartais (5–29%) | 2 ligose |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Kartais (5–29%) | 2 ligose |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Kartais (5–29%) | 2 ligose |
| ATP6V1AATPase H+ transporting V1 subunit A | Kartais (5–29%) | 1 ligoje |
| ATP7AATPase copper transporting alpha | Kartais (5–29%) | 2 ligose |
| BCL11ABCL11 transcription factor A | Kartais (5–29%) | 1 ligoje |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Kartais (5–29%) | 1 ligoje |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Kartais (5–29%) | 2 ligose |
| BUB3BUB3 mitotic checkpoint protein | Kartais (5–29%) | 1 ligoje |
| CACHD1cache domain containing 1 | Kartais (5–29%) | 1 ligoje |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Kartais (5–29%) | 2 ligose |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Kartais (5–29%) | 1 ligoje |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Kartais (5–29%) | 1 ligoje |
| CARS1cysteinyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| CDC42BPBCDC42 binding protein kinase beta | Kartais (5–29%) | 1 ligoje |
| CDK19cyclin dependent kinase 19 | Kartais (5–29%) | 1 ligoje |
| CDKL5cyclin dependent kinase like 5 | Kartais (5–29%) | 1 ligoje |
| CELF2CUGBP Elav-like family member 2 | Kartais (5–29%) | 1 ligoje |
| CEP57centrosomal protein 57 | Kartais (5–29%) | 1 ligoje |
| CLTCclathrin heavy chain | Kartais (5–29%) | 1 ligoje |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Kartais (5–29%) | 1 ligoje |
| COX7Bcytochrome c oxidase subunit 7B | Kartais (5–29%) | 1 ligoje |
| CTCFCCCTC-binding factor | Kartais (5–29%) | 2 ligose |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Kartais (5–29%) | 1 ligoje |
| DALRD3DALR anticodon binding domain containing 3 | Kartais (5–29%) | 1 ligoje |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Kartais (5–29%) | 1 ligoje |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Kartais (5–29%) | 1 ligoje |
| DHX30DExH-box helicase 30 | Kartais (5–29%) | 1 ligoje |
| DNM1dynamin 1 | Kartais (5–29%) | 1 ligoje |
| DOT1LDOT1 like histone lysine methyltransferase | Kartais (5–29%) | 1 ligoje |
| DPH5diphthamide biosynthesis 5 | Kartais (5–29%) | 1 ligoje |
| DVL3dishevelled segment polarity protein 3 | Kartais (5–29%) | 1 ligoje |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Kartais (5–29%) | 1 ligoje |
| EXT2exostosin glycosyltransferase 2 | Kartais (5–29%) | 1 ligoje |
| FBXO28F-box protein 28 | Kartais (5–29%) | 1 ligoje |
| FGF12fibroblast growth factor 12 | Kartais (5–29%) | 1 ligoje |
| FOCADfocadhesin | Kartais (5–29%) | 1 ligoje |
| FOXG1forkhead box G1 | Kartais (5–29%) | 1 ligoje |
| FRA10AC1FRA10A associated CGG repeat 1 | Kartais (5–29%) | 1 ligoje |
| FRMPD4FERM and PDZ domain containing 4 | Kartais (5–29%) | 1 ligoje |
| FZR1fizzy and cell division cycle 20 related 1 | Kartais (5–29%) | 1 ligoje |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Kartais (5–29%) | 1 ligoje |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Kartais (5–29%) | 1 ligoje |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Kartais (5–29%) | 1 ligoje |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Kartais (5–29%) | 1 ligoje |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Kartais (5–29%) | 1 ligoje |
| GNB2G protein subunit beta 2 | Kartais (5–29%) | 1 ligoje |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Kartais (5–29%) | 1 ligoje |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Kartais (5–29%) | 1 ligoje |
| H3-3AH3.3 histone A | Kartais (5–29%) | 1 ligoje |
| H3-3BH3.3 histone B | Kartais (5–29%) | 1 ligoje |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Kartais (5–29%) | 1 ligoje |
| HIVEP2HIVEP zinc finger 2 | Kartais (5–29%) | 1 ligoje |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Kartais (5–29%) | 1 ligoje |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Kartais (5–29%) | 1 ligoje |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Kartais (5–29%) | 1 ligoje |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Kartais (5–29%) | 1 ligoje |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Kartais (5–29%) | 1 ligoje |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Kartais (5–29%) | 1 ligoje |
| KDM2Blysine demethylase 2B | Kartais (5–29%) | 1 ligoje |
| KMT2Alysine methyltransferase 2A | Kartais (5–29%) | 1 ligoje |
| KMT5Blysine methyltransferase 5B | Kartais (5–29%) | 1 ligoje |
| LMX1BLIM homeobox transcription factor 1 beta | Kartais (5–29%) | 1 ligoje |
| MAPK1mitogen-activated protein kinase 1 | Kartais (5–29%) | 1 ligoje |
| MARK2microtubule affinity regulating kinase 2 | Kartais (5–29%) | 1 ligoje |
| MED12Lmediator complex subunit 12L | Kartais (5–29%) | 1 ligoje |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Kartais (5–29%) | 1 ligoje |
| MTX2metaxin 2 | Kartais (5–29%) | 1 ligoje |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Kartais (5–29%) | 1 ligoje |
| NECAP1NECAP endocytosis associated 1 | Kartais (5–29%) | 1 ligoje |
| NPHP3nephrocystin 3 | Kartais (5–29%) | 1 ligoje |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Kartais (5–29%) | 1 ligoje |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Kartais (5–29%) | 1 ligoje |
| PACS2phosphofurin acidic cluster sorting protein 2 | Kartais (5–29%) | 1 ligoje |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Kartais (5–29%) | 1 ligoje |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Kartais (5–29%) | 1 ligoje |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Kartais (5–29%) | 1 ligoje |
| PURApurine rich element binding protein A | Kartais (5–29%) | 1 ligoje |
| RELREL proto-oncogene, NF-kB subunit | Kartais (5–29%) | 1 ligoje |
| RHOBTB2Rho related BTB domain containing 2 | Kartais (5–29%) | 1 ligoje |
| RNU4-2RNA, U4 small nuclear 2 | Kartais (5–29%) | 1 ligoje |
| SATB1SATB homeobox 1 | Kartais (5–29%) | 1 ligoje |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Kartais (5–29%) | 2 ligose |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Kartais (5–29%) | 1 ligoje |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Kartais (5–29%) | 1 ligoje |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Kartais (5–29%) | 1 ligoje |
| SETD5SET domain containing 5 | Kartais (5–29%) | 1 ligoje |
| SGSM3small G protein signaling modulator 3 | Kartais (5–29%) | 1 ligoje |
| SIN3ASIN3 transcription regulator family member A | Kartais (5–29%) | 1 ligoje |
| SLC13A5solute carrier family 13 member 5 | Kartais (5–29%) | 1 ligoje |
| SLC1A2solute carrier family 1 member 2 | Kartais (5–29%) | 1 ligoje |
| SLC1A3solute carrier family 1 member 3 | Kartais (5–29%) | 1 ligoje |
| SLC2A1solute carrier family 2 member 1 | Kartais (5–29%) | 1 ligoje |
| SLC38A3solute carrier family 38 member 3 | Kartais (5–29%) | 1 ligoje |
| SOX6SRY-box transcription factor 6 | Kartais (5–29%) | 1 ligoje |
| STRADASTE20 related adaptor alpha | Kartais (5–29%) | 1 ligoje |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Kartais (5–29%) | 1 ligoje |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Kartais (5–29%) | 1 ligoje |
| SYNJ1synaptojanin 1 | Kartais (5–29%) | 1 ligoje |
| SZT2SZT2 subunit of KICSTOR complex | Kartais (5–29%) | 2 ligose |
| THOC2THO complex subunit 2 | Kartais (5–29%) | 1 ligoje |
| TRAK1trafficking kinesin protein 1 | Kartais (5–29%) | 1 ligoje |
| TRIP13thyroid hormone receptor interactor 13 | Kartais (5–29%) | 1 ligoje |
| TRPV6transient receptor potential cation channel subfamily V member 6 | Kartais (5–29%) | 1 ligoje |
| UBA5ubiquitin like modifier activating enzyme 5 | Kartais (5–29%) | 1 ligoje |
| UBE2Aubiquitin conjugating enzyme E2 A | Kartais (5–29%) | 1 ligoje |
| UFSP2UFM1 specific peptidase 2 | Kartais (5–29%) | 1 ligoje |
| XPO1exportin 1 | Kartais (5–29%) | 1 ligoje |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Kartais (5–29%) | 1 ligoje |
| ZIC2Zic family zinc finger 2 | Kartais (5–29%) | 1 ligoje |
| ZRSR2zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 | Kartais (5–29%) | 1 ligoje |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Retai (1–4 %) | 1 ligoje |
| MMACHCmetabolism of cobalamin associated C | Retai (1–4 %) | 2 ligose |
| NEU1neuraminidase 1 | Retai (1–4 %) | 1 ligoje |
| PTBP1polypyrimidine tract binding protein 1 | Retai (1–4 %) | 1 ligoje |
| SPTBN1spectrin beta, non-erythrocytic 1 | Retai (1–4 %) | 1 ligoje |
| AGO1argonaute RISC component 1 | Neužfiksuota | 1 ligoje |
| ARXaristaless related homeobox | Neužfiksuota | 1 ligoje |
| ATN1atrophin 1 | Neužfiksuota | 1 ligoje |
| BMP4bone morphogenetic protein 4 | Neužfiksuota | 1 ligoje |
| CAMK2Gcalcium/calmodulin dependent protein kinase II gamma | Neužfiksuota | 1 ligoje |
| CCN2cellular communication network factor 2 | Neužfiksuota | 1 ligoje |
| CPT2carnitine palmitoyltransferase 2 | Neužfiksuota | 1 ligoje |
| CTNND1catenin delta 1 | Neužfiksuota | 1 ligoje |
| CUL4Bcullin 4B | Neužfiksuota | 1 ligoje |
| ETFAelectron transfer flavoprotein subunit alpha | Neužfiksuota | 1 ligoje |
| ETFBelectron transfer flavoprotein subunit beta | Neužfiksuota | 1 ligoje |
| ETFDHelectron transfer flavoprotein dehydrogenase | Neužfiksuota | 1 ligoje |
| FBXO11F-box protein 11 | Neužfiksuota | 1 ligoje |
| GALNT2polypeptide N-acetylgalactosaminyltransferase 2 | Neužfiksuota | 1 ligoje |
| GMNNgeminin DNA replication inhibitor | Neužfiksuota | 1 ligoje |
| GNPATglyceronephosphate O-acyltransferase | Neužfiksuota | 1 ligoje |
| LBRlamin B receptor | Neužfiksuota | 1 ligoje |
| MDH1malate dehydrogenase 1 | Neužfiksuota | 1 ligoje |
| MTM1myotubularin 1 | Neužfiksuota | 1 ligoje |
| NFIBnuclear factor I B | Neužfiksuota | 1 ligoje |
| PRDX1peroxiredoxin 1 | Neužfiksuota | 1 ligoje |
| SERPINH1serpin family H member 1 | Neužfiksuota | 1 ligoje |
| SETBP1SET binding protein 1 | Neužfiksuota | 1 ligoje |
| SETD2SET domain containing 2, histone lysine methyltransferase | Neužfiksuota | 1 ligoje |
| SOX9SRY-box transcription factor 9 | Neužfiksuota | 1 ligoje |
| SYT1synaptotagmin 1 | Neužfiksuota | 1 ligoje |
| TCF20transcription factor 20 | Neužfiksuota | 1 ligoje |
| TET3tet methylcytosine dioxygenase 3 | Neužfiksuota | 1 ligoje |
| TMEM237transmembrane protein 237 | Neužfiksuota | 1 ligoje |
| TP63tumor protein p63 | Neužfiksuota | 1 ligoje |
| UNC80unc-80 subunit of NALCN channel complex | Neužfiksuota | 1 ligoje |
| WASHC5WASH complex subunit 5 | Neužfiksuota | 1 ligoje |
| WDR35WD repeat domain 35 | Neužfiksuota | 1 ligoje |
| WNK3WNK lysine deficient protein kinase 3 | Neužfiksuota | 1 ligoje |
| XRCC4X-ray repair cross complementing 4 | Neužfiksuota | 1 ligoje |
| ZC4H2zinc finger C4H2-type containing | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
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- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.16-c6eea6bf.
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