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Požymis
Thin red part of the upper lip
Klinikinis pavadinimas: Thin upper lip vermilion
Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective).
Santrauka
- Taip pat vadinama
- Thin upper lip, Decreased height of upper lip vermilion, Decreased volume of upper lip, Decreased volume of upper lip vermilion, Thin vermilion border of upper lip
- Kūno sistema
- Abnormality of head or neck
Thin red part of the upper lipHP:0000219
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PrisijungtiKlaustiPradėtinuo 449 $
Read the genes linked to Thin red part of the upper lip, and the rest of your genome, with one test.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites
Įsigyti savo Genome Test346 genų susiję su Thin red part of the upper lip
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Thin red part of the upper lip. 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 |
|---|---|---|
| ABCC9ATP binding cassette subfamily C member 9 | Visada | 1 ligoje |
| ACTBactin beta | Visada | 2 ligose |
| ADAMTSL2ADAMTS like 2 | Visada | 2 ligose |
| ADSLadenylosuccinate lyase | Visada | 2 ligose |
| AMMECR1AMMECR nuclear protein 1 | Visada | 1 ligoje |
| AMOTL1angiomotin like 1 | Visada | 1 ligoje |
| AP3B1adaptor related protein complex 3 subunit beta 1 | Visada | 1 ligoje |
| ARID2AT-rich interaction domain 2 | Visada | 2 ligose |
| ARXaristaless related homeobox | Visada | 1 ligoje |
| ATIC5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase | Visada | 2 ligose |
| ATP9AATPase phospholipid transporting 9A | Visada | 1 ligoje |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Visada | 2 ligose |
| CCNKcyclin K | Visada | 1 ligoje |
| CDC42cell division cycle 42 | Visada | 2 ligose |
| CDH11cadherin 11 | Visada | 2 ligose |
| CEP295centrosomal protein 295 | Visada | 1 ligoje |
| CHST14carbohydrate sulfotransferase 14 | Visada | 2 ligose |
| CLCN3Cl-/H+ antiporter 3 | Visada | 1 ligoje |
| CNOT2CCR4-NOT transcription complex subunit 2 | Visada | 1 ligoje |
| CPLX1complexin 1 | Visada | 1 ligoje |
| CREBBPCREB binding lysine acetyltransferase | Visada | 2 ligose |
| DCPSdecapping enzyme, scavenger | Visada | 1 ligoje |
| DHX9DExH-box helicase 9 | Visada | 1 ligoje |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Visada | 1 ligoje |
| EP300EP300 lysine acetyltransferase | Visada | 2 ligose |
| EXOSC2exosome component 2 | Visada | 1 ligoje |
| IFIH1interferon induced with helicase C domain 1 | Visada | 1 ligoje |
| IFT140intraflagellar transport 140 | Visada | 1 ligoje |
| INTS11integrator complex subunit 11 | Visada | 1 ligoje |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Visada | 2 ligose |
| KCNK3potassium two pore domain channel subfamily K member 3 | Visada | 1 ligoje |
| KCNK4potassium two pore domain channel subfamily K member 4 | Visada | 1 ligoje |
| KDM1Alysine demethylase 1A | Visada | 2 ligose |
| MEIS2Meis homeobox 2 | Visada | 1 ligoje |
| MKS1MKS transition zone complex subunit 1 | Visada | 1 ligoje |
| MYMXmyomixer, myoblast fusion factor | Visada | 1 ligoje |
| NAA80N-alpha-acetyltransferase 80, NatH catalytic subunit | Visada | 1 ligoje |
| OPHN1oligophrenin 1 | Visada | 1 ligoje |
| PAK3p21 (RAC1) activated kinase 3 | Visada | 1 ligoje |
| PDGFRBplatelet derived growth factor receptor beta | Visada | 1 ligoje |
Rodyti dar 306 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Visada | 1 ligoje |
| PITX2paired like homeodomain 2 | Visada | 1 ligoje |
| PPFIA3PPFI scaffold protein A3 | Visada | 1 ligoje |
| PTRH2peptidyl-tRNA hydrolase 2 | Visada | 2 ligose |
| RAD21RAD21 cohesin complex component | Visada | 2 ligose |
| RNU2-2RNA, U2 small nuclear 2 | Visada | 1 ligoje |
| RNU4ATACRNA, U4atac small nuclear | Visada | 2 ligose |
| SEC23ASEC23 homolog A, COPII component | Visada | 1 ligoje |
| SH3PXD2BSH3 and PX domains 2B | Visada | 1 ligoje |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Visada | 1 ligoje |
| TBCEtubulin folding cofactor E | Visada | 1 ligoje |
| TM2D3TM2 domain containing 3 | Visada | 1 ligoje |
| TRPS1transcriptional repressor GATA binding 1 | Visada | 3 ligose |
| UBAP2Lubiquitin associated protein 2 like | Visada | 1 ligoje |
| UBE3Bubiquitin protein ligase E3B | Visada | 1 ligoje |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Visada | 1 ligoje |
| VPS35LVPS35 endosomal protein sorting factor like | Visada | 1 ligoje |
| VPS51VPS51 subunit of GARP complex | Visada | 1 ligoje |
| WDR19WD repeat domain 19 | Visada | 1 ligoje |
| ZNF407zinc finger protein 407 | Visada | 1 ligoje |
| ANKLE2ankyrin repeat and LEM domain containing 2 | Labai dažnai (80–99%) | 1 ligoje |
| ASPMassembly factor for spindle microtubules | Labai dažnai (80–99%) | 1 ligoje |
| B3GLCTbeta 3-glucosyltransferase | Labai dažnai (80–99%) | 2 ligose |
| BCL11ABCL11 transcription factor A | Labai dažnai (80–99%) | 1 ligoje |
| BCL11BBCL11 transcription factor B | Labai dažnai (80–99%) | 1 ligoje |
| BMP2bone morphogenetic protein 2 | Labai dažnai (80–99%) | 1 ligoje |
| CDK5RAP2CDK5 regulatory subunit associated protein 2 | Labai dažnai (80–99%) | 1 ligoje |
| CDK6cyclin dependent kinase 6 | Labai dažnai (80–99%) | 1 ligoje |
| CENPEcentromere protein E | Labai dažnai (80–99%) | 1 ligoje |
| CEP135centrosomal protein 135 | Labai dažnai (80–99%) | 1 ligoje |
| CEP152centrosomal protein 152 | Labai dažnai (80–99%) | 1 ligoje |
| CHAMP1chromosome alignment maintaining phosphoprotein 1 | Labai dažnai (80–99%) | 1 ligoje |
| CITcitron rho-interacting serine/threonine kinase | Labai dažnai (80–99%) | 1 ligoje |
| COPB2coat protein complex I subunit beta 2 | Labai dažnai (80–99%) | 1 ligoje |
| CPAPcentrosome assembly and centriole elongation protein | Labai dažnai (80–99%) | 1 ligoje |
| DSEdermatan sulfate epimerase | Labai dažnai (80–99%) | 1 ligoje |
| EXT1exostosin glycosyltransferase 1 | Labai dažnai (80–99%) | 1 ligoje |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Labai dažnai (80–99%) | 2 ligose |
| HDAC8histone deacetylase 8 | Labai dažnai (80–99%) | 1 ligoje |
| IRF6interferon regulatory factor 6 | Labai dažnai (80–99%) | 1 ligoje |
| IRX5iroquois homeobox 5 | Labai dažnai (80–99%) | 1 ligoje |
| KAT6Alysine acetyltransferase 6A | Labai dažnai (80–99%) | 2 ligose |
| KCNMA1potassium calcium-activated channel subfamily M alpha 1 | Labai dažnai (80–99%) | 1 ligoje |
| KIF14kinesin family member 14 | Labai dažnai (80–99%) | 1 ligoje |
| KNL1kinetochore scaffold 1 | Labai dažnai (80–99%) | 1 ligoje |
| LAS1LLAS1 like ribosome biogenesis factor | Labai dažnai (80–99%) | 1 ligoje |
| MCM7minichromosome maintenance complex component 7 | Labai dažnai (80–99%) | 1 ligoje |
| MCPH1microcephalin 1 | Labai dažnai (80–99%) | 1 ligoje |
| METTL5methyltransferase 5, N6-adenosine | Labai dažnai (80–99%) | 1 ligoje |
| MFSD2AMFSD2 lysolipid transporter A, lysophospholipid | Labai dažnai (80–99%) | 1 ligoje |
| NCAPD3non-SMC condensin II complex subunit D3 | Labai dažnai (80–99%) | 1 ligoje |
| NIPBLNIPBL cohesin loading factor | Labai dažnai (80–99%) | 1 ligoje |
| NOGnoggin | Labai dažnai (80–99%) | 1 ligoje |
| NUP37nucleoporin 37 | Labai dažnai (80–99%) | 1 ligoje |
| PACS2phosphofurin acidic cluster sorting protein 2 | Labai dažnai (80–99%) | 1 ligoje |
| PDCD6IPprogrammed cell death 6 interacting protein | Labai dažnai (80–99%) | 1 ligoje |
| PHC1polyhomeotic homolog 1 | Labai dažnai (80–99%) | 1 ligoje |
| POLR3ARNA polymerase III subunit A | Labai dažnai (80–99%) | 1 ligoje |
| PPM1Dprotein phosphatase, Mg2+/Mn2+ dependent 1D | Labai dažnai (80–99%) | 1 ligoje |
| PUF60poly(U) binding splicing factor 60 | Labai dažnai (80–99%) | 3 ligose |
| PYCR2pyrroline-5-carboxylate reductase 2 | Labai dažnai (80–99%) | 1 ligoje |
| QRICH1glutamine rich 1 | Labai dažnai (80–99%) | 1 ligoje |
| RNF135ring finger protein 135 | Labai dažnai (80–99%) | 1 ligoje |
| SARS1seryl-tRNA synthetase 1 | Labai dažnai (80–99%) | 1 ligoje |
| SASS6SAS-6 centriolar assembly protein | Labai dažnai (80–99%) | 1 ligoje |
| SMAD4SMAD family member 4 | Labai dažnai (80–99%) | 1 ligoje |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Labai dažnai (80–99%) | 2 ligose |
| SMC3structural maintenance of chromosomes 3 | Labai dažnai (80–99%) | 1 ligoje |
| STILSTIL centriolar assembly protein | Labai dažnai (80–99%) | 1 ligoje |
| TAF13TATA-box binding protein associated factor 13 | Labai dažnai (80–99%) | 1 ligoje |
| TOP2BDNA topoisomerase II beta | Labai dažnai (80–99%) | 1 ligoje |
| TRAPPC10trafficking protein particle complex subunit 10 | Labai dažnai (80–99%) | 1 ligoje |
| TRAPPC14trafficking protein particle complex subunit 14 | Labai dažnai (80–99%) | 1 ligoje |
| TRAPPC9trafficking protein particle complex subunit 9 | Labai dažnai (80–99%) | 1 ligoje |
| WARS1tryptophanyl-tRNA synthetase 1 | Labai dažnai (80–99%) | 1 ligoje |
| WDR62WD repeat domain 62 | Labai dažnai (80–99%) | 1 ligoje |
| AARS1alanyl-tRNA synthetase 1 | Dažnai (30–79%) | 1 ligoje |
| ACBD6acyl-CoA binding domain containing 6 | Dažnai (30–79%) | 1 ligoje |
| ADNPactivity dependent neuroprotector homeobox | Dažnai (30–79%) | 2 ligose |
| AGO2argonaute RISC catalytic component 2 | Dažnai (30–79%) | 1 ligoje |
| AHDC1AT-hook DNA binding motif containing 1 | Dažnai (30–79%) | 1 ligoje |
| ANKRD11ankyrin repeat domain 11 | Dažnai (30–79%) | 1 ligoje |
| ANKRD17ankyrin repeat domain 17 | Dažnai (30–79%) | 1 ligoje |
| ARID1AAT-rich interaction domain 1A | Dažnai (30–79%) | 1 ligoje |
| ARID1BAT-rich interaction domain 1B | Dažnai (30–79%) | 2 ligose |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Dažnai (30–79%) | 1 ligoje |
| BCRBCR activator of RhoGEF and GTPase | Dažnai (30–79%) | 1 ligoje |
| BPTFbromodomain PHD finger transcription factor | Dažnai (30–79%) | 2 ligose |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Dažnai (30–79%) | 1 ligoje |
| CASP2caspase 2 | Dažnai (30–79%) | 1 ligoje |
| CCNQcyclin Q | Dažnai (30–79%) | 2 ligose |
| CDH2cadherin 2 | Dažnai (30–79%) | 1 ligoje |
| CLCN6Cl-/H+ antiporter 6 | Dažnai (30–79%) | 1 ligoje |
| COG1component of oligomeric golgi complex 1 | Dažnai (30–79%) | 2 ligose |
| CRKLCRK like proto-oncogene, adaptor protein | Dažnai (30–79%) | 1 ligoje |
| CTCFCCCTC-binding factor | Dažnai (30–79%) | 2 ligose |
| DDX59DEAD-box helicase 59 | Dažnai (30–79%) | 1 ligoje |
| DPF2double PHD fingers 2 | Dažnai (30–79%) | 2 ligose |
| DVL1dishevelled segment polarity protein 1 | Dažnai (30–79%) | 2 ligose |
| EBF3EBF transcription factor 3 | Dažnai (30–79%) | 2 ligose |
| EDEM3ER degradation enhancing alpha-mannosidase like protein 3 | Dažnai (30–79%) | 1 ligoje |
| EIF5Aeukaryotic translation initiation factor 5A | Dažnai (30–79%) | 1 ligoje |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| EMILIN1elastin microfibril interfacer 1 | Dažnai (30–79%) | 1 ligoje |
| EXOC2exocyst complex component 2 | Dažnai (30–79%) | 1 ligoje |
| FAR1fatty acyl-CoA reductase 1 | Dažnai (30–79%) | 2 ligose |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Dažnai (30–79%) | 1 ligoje |
| FBN1fibrillin 1 | Dažnai (30–79%) | 2 ligose |
| FGFR2fibroblast growth factor receptor 2 | Dažnai (30–79%) | 1 ligoje |
| FIG4FIG4 phosphoinositide 5-phosphatase | Dažnai (30–79%) | 1 ligoje |
| GATAD2BGATA zinc finger domain containing 2B | Dažnai (30–79%) | 2 ligose |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Dažnai (30–79%) | 1 ligoje |
| HIVEP2HIVEP zinc finger 2 | Dažnai (30–79%) | 1 ligoje |
| HNRNPCheterogeneous nuclear ribonucleoprotein C | Dažnai (30–79%) | 1 ligoje |
| HS2ST1heparan sulfate 2-O-sulfotransferase 1 | Dažnai (30–79%) | 1 ligoje |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Dažnai (30–79%) | 1 ligoje |
| IFT43intraflagellar transport 43 | Dažnai (30–79%) | 1 ligoje |
| KDM3Blysine demethylase 3B | Dažnai (30–79%) | 1 ligoje |
| KDM6Alysine demethylase 6A | Dažnai (30–79%) | 1 ligoje |
| KMT2Alysine methyltransferase 2A | Dažnai (30–79%) | 2 ligose |
| KMT2Dlysine methyltransferase 2D | Dažnai (30–79%) | 2 ligose |
| LTBP3latent transforming growth factor beta binding protein 3 | Dažnai (30–79%) | 1 ligoje |
| MAFMAF bZIP transcription factor | Dažnai (30–79%) | 2 ligose |
| MAGEL2MAGE family member L2 | Dažnai (30–79%) | 3 ligose |
| MAN1B1mannosidase alpha class 1B member 1 | Dažnai (30–79%) | 2 ligose |
| MAPK1mitogen-activated protein kinase 1 | Dažnai (30–79%) | 1 ligoje |
| MAU2MAU2 sister chromatid cohesion factor | Dažnai (30–79%) | 1 ligoje |
| MCTP2multiple C2 and transmembrane domain containing 2 | Dažnai (30–79%) | 1 ligoje |
| MKRN3makorin ring finger protein 3 | Dažnai (30–79%) | 1 ligoje |
| MYO18Bmyosin XVIIIB | Dažnai (30–79%) | 1 ligoje |
| NPAP1nuclear pore associated protein 1 | Dažnai (30–79%) | 1 ligoje |
| OGTO-linked N-acetylglucosamine (GlcNAc) transferase | Dažnai (30–79%) | 1 ligoje |
| OTUD6BOTU deubiquitinase 6B | Dažnai (30–79%) | 2 ligose |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Dažnai (30–79%) | 1 ligoje |
| PCGF2polycomb group ring finger 2 | Dažnai (30–79%) | 1 ligoje |
| PGM2L1phosphoglucomutase 2 like 1 | Dažnai (30–79%) | 1 ligoje |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Dažnai (30–79%) | 1 ligoje |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Dažnai (30–79%) | 1 ligoje |
| PLPBPpyridoxal phosphate binding protein | Dažnai (30–79%) | 1 ligoje |
| PMM2phosphomannomutase 2 | Dažnai (30–79%) | 2 ligose |
| POGZpogo transposable element derived with ZNF domain | Dažnai (30–79%) | 2 ligose |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Dažnai (30–79%) | 1 ligoje |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Dažnai (30–79%) | 1 ligoje |
| PWAR1Prader Willi/Angelman region RNA 1 | Dažnai (30–79%) | 1 ligoje |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Dažnai (30–79%) | 1 ligoje |
| ROR2ROR family WNT receptor 2 | Dažnai (30–79%) | 1 ligoje |
| RPL10ribosomal protein L10 | Dažnai (30–79%) | 3 ligose |
| SATB2SATB homeobox 2 | Dažnai (30–79%) | 1 ligoje |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Dažnai (30–79%) | 1 ligoje |
| SETD5SET domain containing 5 | Dažnai (30–79%) | 1 ligoje |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Dažnai (30–79%) | 2 ligose |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Dažnai (30–79%) | 1 ligoje |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Dažnai (30–79%) | 2 ligose |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Dažnai (30–79%) | 1 ligoje |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Dažnai (30–79%) | 2 ligose |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Dažnai (30–79%) | 1 ligoje |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Dažnai (30–79%) | 1 ligoje |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Dažnai (30–79%) | 2 ligose |
| SOX11SRY-box transcription factor 11 | Dažnai (30–79%) | 1 ligoje |
| SOX4SRY-box transcription factor 4 | Dažnai (30–79%) | 1 ligoje |
| SRCAPSnf2 related CREBBP activator protein | Dažnai (30–79%) | 2 ligose |
| SRRM2serine/arginine repetitive matrix 2 | Dažnai (30–79%) | 1 ligoje |
| STT3ASTT3 oligosaccharyltransferase complex catalytic subunit A | Dažnai (30–79%) | 1 ligoje |
| TAF1TATA-box binding protein associated factor 1 | Dažnai (30–79%) | 2 ligose |
| TASP1taspase 1 | Dažnai (30–79%) | 1 ligoje |
| TBC1D24TBC1 domain family member 24 | Dažnai (30–79%) | 2 ligose |
| TLK2tousled like kinase 2 | Dažnai (30–79%) | 1 ligoje |
| TMEM94transmembrane protein 94 | Dažnai (30–79%) | 1 ligoje |
| TPRtranslocated promoter region, nuclear basket protein | Dažnai (30–79%) | 1 ligoje |
| TTC5tetratricopeptide repeat domain 5 | Dažnai (30–79%) | 1 ligoje |
| WASHC4WASH complex subunit 4 | Dažnai (30–79%) | 1 ligoje |
| ZFXzinc finger protein X-linked | Dažnai (30–79%) | 1 ligoje |
| ADARB1adenosine deaminase RNA specific B1 | Kartais (5–29%) | 1 ligoje |
| ADGRG6adhesion G protein-coupled receptor G6 | Kartais (5–29%) | 1 ligoje |
| AFF3ALF transcription elongation factor 3 | Kartais (5–29%) | 1 ligoje |
| AFF4ALF transcription elongation factor 4 | Kartais (5–29%) | 1 ligoje |
| AGR2anterior gradient 2, protein disulphide isomerase family member | Kartais (5–29%) | 1 ligoje |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Kartais (5–29%) | 2 ligose |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Kartais (5–29%) | 1 ligoje |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Kartais (5–29%) | 2 ligose |
| ARMC9armadillo repeat containing 9 | Kartais (5–29%) | 1 ligoje |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Kartais (5–29%) | 1 ligoje |
| ASXL2ASXL transcriptional regulator 2 | Kartais (5–29%) | 1 ligoje |
| ASXL3ASXL transcriptional regulator 3 | Kartais (5–29%) | 1 ligoje |
| ATXN7L3ataxin 7 like 3 | Kartais (5–29%) | 1 ligoje |
| B4GALT1beta-1,4-galactosyltransferase 1 | Kartais (5–29%) | 1 ligoje |
| BCKDKbranched chain keto acid dehydrogenase kinase | Kartais (5–29%) | 1 ligoje |
| CAPRIN1cell cycle associated protein 1 | Kartais (5–29%) | 1 ligoje |
| CDC42BPBCDC42 binding protein kinase beta | Kartais (5–29%) | 1 ligoje |
| CDK13cyclin dependent kinase 13 | Kartais (5–29%) | 1 ligoje |
| CSNK2A1casein kinase 2 alpha 1 | Kartais (5–29%) | 1 ligoje |
| CTNNB1catenin beta 1 | Kartais (5–29%) | 2 ligose |
| CUX1cut like homeobox 1 | Kartais (5–29%) | 1 ligoje |
| DDB1damage specific DNA binding protein 1 | Kartais (5–29%) | 1 ligoje |
| DHPSdeoxyhypusine synthase | Kartais (5–29%) | 1 ligoje |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Kartais (5–29%) | 2 ligose |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Kartais (5–29%) | 1 ligoje |
| FBXO11F-box protein 11 | Kartais (5–29%) | 1 ligoje |
| GAD1glutamate decarboxylase 1 | Kartais (5–29%) | 1 ligoje |
| GJA5gap junction protein alpha 5 | Kartais (5–29%) | 1 ligoje |
| GJA8gap junction protein alpha 8 | Kartais (5–29%) | 1 ligoje |
| GNAI1G protein subunit alpha i1 | Kartais (5–29%) | 1 ligoje |
| GNB2G protein subunit beta 2 | Kartais (5–29%) | 1 ligoje |
| H4C5H4 clustered histone 5 | Kartais (5–29%) | 1 ligoje |
| HK1hexokinase 1 | Kartais (5–29%) | 1 ligoje |
| KATNB1katanin regulatory subunit B1 | Kartais (5–29%) | 1 ligoje |
| KCNJ5potassium inwardly rectifying channel subfamily J member 5 | Kartais (5–29%) | 1 ligoje |
| KDM5Clysine demethylase 5C | Kartais (5–29%) | 1 ligoje |
| KIF15kinesin family member 15 | Kartais (5–29%) | 1 ligoje |
| KLHL20kelch like family member 20 | Kartais (5–29%) | 1 ligoje |
| MAPRE2microtubule associated protein RP/EB family member 2 | Kartais (5–29%) | 1 ligoje |
| MED12mediator complex subunit 12 | Kartais (5–29%) | 1 ligoje |
| MED12Lmediator complex subunit 12L | Kartais (5–29%) | 1 ligoje |
| MEF2Cmyocyte enhancer factor 2C | Kartais (5–29%) | 1 ligoje |
| MPC1mitochondrial pyruvate carrier 1 | Kartais (5–29%) | 1 ligoje |
| NDNnecdin, MAGE family member | Kartais (5–29%) | 1 ligoje |
| NONOnon-POU domain containing octamer binding | Kartais (5–29%) | 1 ligoje |
| OCA2OCA2 melanosomal transmembrane protein | Kartais (5–29%) | 1 ligoje |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Kartais (5–29%) | 1 ligoje |
| ODC1ornithine decarboxylase 1 | Kartais (5–29%) | 1 ligoje |
| PACS1phosphofurin acidic cluster sorting protein 1 | Kartais (5–29%) | 2 ligose |
| PDE4Dphosphodiesterase 4D | Kartais (5–29%) | 1 ligoje |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Kartais (5–29%) | 1 ligoje |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Kartais (5–29%) | 1 ligoje |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Kartais (5–29%) | 1 ligoje |
| PRKAR1Bprotein kinase cAMP-dependent type I regulatory subunit beta | Kartais (5–29%) | 1 ligoje |
| PRKDCprotein kinase, DNA-activated, catalytic subunit | Kartais (5–29%) | 1 ligoje |
| PURApurine rich element binding protein A | Kartais (5–29%) | 1 ligoje |
| RAI1retinoic acid induced 1 | Kartais (5–29%) | 1 ligoje |
| RAP1BRAP1B, member of RAS oncogene family | Kartais (5–29%) | 1 ligoje |
| RFX7regulatory factor X7 | Kartais (5–29%) | 1 ligoje |
| RHOBTB2Rho related BTB domain containing 2 | Kartais (5–29%) | 1 ligoje |
| SETBP1SET binding protein 1 | Kartais (5–29%) | 1 ligoje |
| SHMT2serine hydroxymethyltransferase 2 | Kartais (5–29%) | 1 ligoje |
| SIM1SIM bHLH transcription factor 1 | Kartais (5–29%) | 1 ligoje |
| SIN3ASIN3 transcription regulator family member A | Kartais (5–29%) | 1 ligoje |
| SLC26A2solute carrier family 26 member 2 | Kartais (5–29%) | 1 ligoje |
| SLC6A1solute carrier family 6 member 1 | Kartais (5–29%) | 2 ligose |
| SLC6A11solute carrier family 6 member 11 | Kartais (5–29%) | 1 ligoje |
| SLC9A7solute carrier family 9 member A7 | Kartais (5–29%) | 1 ligoje |
| SMC1Astructural maintenance of chromosomes 1A | Kartais (5–29%) | 2 ligose |
| SMPD4sphingomyelin phosphodiesterase 4 | Kartais (5–29%) | 1 ligoje |
| SPENspen family transcriptional repressor | Kartais (5–29%) | 1 ligoje |
| STEEP1STING1 ER exit protein 1 | Kartais (5–29%) | 1 ligoje |
| SYT1synaptotagmin 1 | Kartais (5–29%) | 2 ligose |
| TAF6TATA-box binding protein associated factor 6 | Kartais (5–29%) | 1 ligoje |
| TBC1D32TBC1 domain family member 32 | Kartais (5–29%) | 1 ligoje |
| TBL1XR1TBL1X/Y related 1 | Kartais (5–29%) | 1 ligoje |
| TMEM147transmembrane protein 147 | Kartais (5–29%) | 1 ligoje |
| TNRC6Btrinucleotide repeat containing adaptor 6B | Kartais (5–29%) | 1 ligoje |
| TRIOtrio Rho guanine nucleotide exchange factor | Kartais (5–29%) | 1 ligoje |
| TRIP12thyroid hormone receptor interactor 12 | Kartais (5–29%) | 1 ligoje |
| TRMT10AtRNA methyltransferase 10A | Kartais (5–29%) | 1 ligoje |
| TUBGCP2tubulin gamma complex component 2 | Kartais (5–29%) | 1 ligoje |
| USP9Xubiquitin specific peptidase 9 X-linked | Kartais (5–29%) | 1 ligoje |
| WACWW domain containing adaptor with coiled-coil | Kartais (5–29%) | 2 ligose |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Kartais (5–29%) | 1 ligoje |
| WDR26WD repeat domain 26 | Kartais (5–29%) | 1 ligoje |
| WDR83OSWD repeat domain 83 opposite strand | Kartais (5–29%) | 1 ligoje |
| ZNF292zinc finger protein 292 | Kartais (5–29%) | 1 ligoje |
| ZNF526zinc finger protein 526 | Kartais (5–29%) | 1 ligoje |
| CHD2chromodomain helicase DNA binding protein 2 | Retai (1–4 %) | 1 ligoje |
| CNTNAP2contactin associated protein 2 | Retai (1–4 %) | 1 ligoje |
| NEXMIFneurite extension and migration factor | Retai (1–4 %) | 1 ligoje |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Retai (1–4 %) | 1 ligoje |
| RNU4-2RNA, U4 small nuclear 2 | Retai (1–4 %) | 1 ligoje |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Retai (1–4 %) | 1 ligoje |
| SLC2A1solute carrier family 2 member 1 | Retai (1–4 %) | 1 ligoje |
| SPTBN1spectrin beta, non-erythrocytic 1 | Retai (1–4 %) | 1 ligoje |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Retai (1–4 %) | 1 ligoje |
| ACTG1actin gamma 1 | Neužfiksuota | 1 ligoje |
| AGLamylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase | Neužfiksuota | 1 ligoje |
| AGO1argonaute RISC component 1 | Neužfiksuota | 1 ligoje |
| ARHGEF2Rho/Rac guanine nucleotide exchange factor 2 | Neužfiksuota | 1 ligoje |
| ATN1atrophin 1 | Neužfiksuota | 1 ligoje |
| ATRXATRX chromatin remodeler | Neužfiksuota | 1 ligoje |
| CDK10cyclin dependent kinase 10 | Neužfiksuota | 1 ligoje |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Neužfiksuota | 1 ligoje |
| CLTCclathrin heavy chain | Neužfiksuota | 1 ligoje |
| FOXG1forkhead box G1 | Neužfiksuota | 1 ligoje |
| GLIS3GLIS family zinc finger 3 | Neužfiksuota | 1 ligoje |
| IGF1Rinsulin like growth factor 1 receptor | Neužfiksuota | 1 ligoje |
| KAT6Blysine acetyltransferase 6B | Neužfiksuota | 1 ligoje |
| KIF11kinesin family member 11 | Neužfiksuota | 1 ligoje |
| LMBRD1LMBR1 domain containing 1 | Neužfiksuota | 1 ligoje |
| MBD5methyl-CpG binding domain protein 5 | Neužfiksuota | 1 ligoje |
| MED13mediator complex subunit 13 | Neužfiksuota | 1 ligoje |
| MID1midline 1 | Neužfiksuota | 1 ligoje |
| MTORmechanistic target of rapamycin kinase | Neužfiksuota | 1 ligoje |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Neužfiksuota | 1 ligoje |
| NALCNsodium leak channel, non-selective | Neužfiksuota | 1 ligoje |
| NFIAnuclear factor I A | Neužfiksuota | 1 ligoje |
| PBX1PBX homeobox 1 | Neužfiksuota | 1 ligoje |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Neužfiksuota | 1 ligoje |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Neužfiksuota | 1 ligoje |
| PIGKphosphatidylinositol glycan anchor biosynthesis class K | Neužfiksuota | 1 ligoje |
| PQBP1polyglutamine binding protein 1 | Neužfiksuota | 1 ligoje |
| RALARAS like proto-oncogene A | Neužfiksuota | 1 ligoje |
| SLC25A24solute carrier family 25 member 24 | Neužfiksuota | 1 ligoje |
| STAG2STAG2 cohesin complex component | Neužfiksuota | 1 ligoje |
| TCF20transcription factor 20 | Neužfiksuota | 1 ligoje |
| THUMPD1THUMP domain 1 NAT10 acetyltransferase adaptor | Neužfiksuota | 1 ligoje |
| TRRAPtransformation/transcription domain associated protein | Neužfiksuota | 1 ligoje |
| UNC80unc-80 subunit of NALCN channel complex | Neužfiksuota | 1 ligoje |
| WNT5AWnt family member 5A | Neužfiksuota | 1 ligoje |
| ZBTB18zinc finger and BTB domain containing 18 | 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.
Platesni požymiai
Iš kur tai žinoma
- 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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