Tunnus
Thin red part of the upper lip
Kliiniline nimetus: 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).
Kokkuvõte
- Teised nimetused
- 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
- Kehasüsteem
- Abnormality of head or neck
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Thin red part of the upper lip, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test346 geeni on seotud tunnusega Thin red part of the upper lip
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Thin red part of the upper lip. 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 |
|---|---|---|
| ABCC9ATP binding cassette subfamily C member 9 | Alati | Esineb 1 haiguses |
| ACTBactin beta | Alati | Esineb 2 haiguses |
| ADAMTSL2ADAMTS like 2 | Alati | Esineb 2 haiguses |
| ADSLadenylosuccinate lyase | Alati | Esineb 2 haiguses |
| AMMECR1AMMECR nuclear protein 1 | Alati | Esineb 1 haiguses |
| AMOTL1angiomotin like 1 | Alati | Esineb 1 haiguses |
| AP3B1adaptor related protein complex 3 subunit beta 1 | Alati | Esineb 1 haiguses |
| ARID2AT-rich interaction domain 2 | Alati | Esineb 2 haiguses |
| ARXaristaless related homeobox | Alati | Esineb 1 haiguses |
| ATIC5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase | Alati | Esineb 2 haiguses |
| ATP9AATPase phospholipid transporting 9A | Alati | Esineb 1 haiguses |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Alati | Esineb 2 haiguses |
| CCNKcyclin K | Alati | Esineb 1 haiguses |
| CDC42cell division cycle 42 | Alati | Esineb 2 haiguses |
| CDH11cadherin 11 | Alati | Esineb 2 haiguses |
| CEP295centrosomal protein 295 | Alati | Esineb 1 haiguses |
| CHST14carbohydrate sulfotransferase 14 | Alati | Esineb 2 haiguses |
| CLCN3Cl-/H+ antiporter 3 | Alati | Esineb 1 haiguses |
| CNOT2CCR4-NOT transcription complex subunit 2 | Alati | Esineb 1 haiguses |
| CPLX1complexin 1 | Alati | Esineb 1 haiguses |
| CREBBPCREB binding lysine acetyltransferase | Alati | Esineb 2 haiguses |
| DCPSdecapping enzyme, scavenger | Alati | Esineb 1 haiguses |
| DHX9DExH-box helicase 9 | Alati | Esineb 1 haiguses |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Alati | Esineb 1 haiguses |
| EP300EP300 lysine acetyltransferase | Alati | Esineb 2 haiguses |
| EXOSC2exosome component 2 | Alati | Esineb 1 haiguses |
| IFIH1interferon induced with helicase C domain 1 | Alati | Esineb 1 haiguses |
| IFT140intraflagellar transport 140 | Alati | Esineb 1 haiguses |
| INTS11integrator complex subunit 11 | Alati | Esineb 1 haiguses |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Alati | Esineb 2 haiguses |
| KCNK3potassium two pore domain channel subfamily K member 3 | Alati | Esineb 1 haiguses |
| KCNK4potassium two pore domain channel subfamily K member 4 | Alati | Esineb 1 haiguses |
| KDM1Alysine demethylase 1A | Alati | Esineb 2 haiguses |
| MEIS2Meis homeobox 2 | Alati | Esineb 1 haiguses |
| MKS1MKS transition zone complex subunit 1 | Alati | Esineb 1 haiguses |
| MYMXmyomixer, myoblast fusion factor | Alati | Esineb 1 haiguses |
| NAA80N-alpha-acetyltransferase 80, NatH catalytic subunit | Alati | Esineb 1 haiguses |
| OPHN1oligophrenin 1 | Alati | Esineb 1 haiguses |
| PAK3p21 (RAC1) activated kinase 3 | Alati | Esineb 1 haiguses |
| PDGFRBplatelet derived growth factor receptor beta | Alati | Esineb 1 haiguses |
Näita veel 306 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Alati | Esineb 1 haiguses |
| PITX2paired like homeodomain 2 | Alati | Esineb 1 haiguses |
| PPFIA3PPFI scaffold protein A3 | Alati | Esineb 1 haiguses |
| PTRH2peptidyl-tRNA hydrolase 2 | Alati | Esineb 2 haiguses |
| RAD21RAD21 cohesin complex component | Alati | Esineb 2 haiguses |
| RNU2-2RNA, U2 small nuclear 2 | Alati | Esineb 1 haiguses |
| RNU4ATACRNA, U4atac small nuclear | Alati | Esineb 2 haiguses |
| SEC23ASEC23 homolog A, COPII component | Alati | Esineb 1 haiguses |
| SH3PXD2BSH3 and PX domains 2B | Alati | Esineb 1 haiguses |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Alati | Esineb 1 haiguses |
| TBCEtubulin folding cofactor E | Alati | Esineb 1 haiguses |
| TM2D3TM2 domain containing 3 | Alati | Esineb 1 haiguses |
| TRPS1transcriptional repressor GATA binding 1 | Alati | Esineb 3 haiguses |
| UBAP2Lubiquitin associated protein 2 like | Alati | Esineb 1 haiguses |
| UBE3Bubiquitin protein ligase E3B | Alati | Esineb 1 haiguses |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Alati | Esineb 1 haiguses |
| VPS35LVPS35 endosomal protein sorting factor like | Alati | Esineb 1 haiguses |
| VPS51VPS51 subunit of GARP complex | Alati | Esineb 1 haiguses |
| WDR19WD repeat domain 19 | Alati | Esineb 1 haiguses |
| ZNF407zinc finger protein 407 | Alati | Esineb 1 haiguses |
| ANKLE2ankyrin repeat and LEM domain containing 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ASPMassembly factor for spindle microtubules | Väga sageli (80–99%) | Esineb 1 haiguses |
| B3GLCTbeta 3-glucosyltransferase | Väga sageli (80–99%) | Esineb 2 haiguses |
| BCL11ABCL11 transcription factor A | Väga sageli (80–99%) | Esineb 1 haiguses |
| BCL11BBCL11 transcription factor B | Väga sageli (80–99%) | Esineb 1 haiguses |
| BMP2bone morphogenetic protein 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CDK5RAP2CDK5 regulatory subunit associated protein 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CDK6cyclin dependent kinase 6 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CENPEcentromere protein E | Väga sageli (80–99%) | Esineb 1 haiguses |
| CEP135centrosomal protein 135 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CEP152centrosomal protein 152 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CHAMP1chromosome alignment maintaining phosphoprotein 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CITcitron rho-interacting serine/threonine kinase | Väga sageli (80–99%) | Esineb 1 haiguses |
| COPB2coat protein complex I subunit beta 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CPAPcentrosome assembly and centriole elongation protein | Väga sageli (80–99%) | Esineb 1 haiguses |
| DSEdermatan sulfate epimerase | Väga sageli (80–99%) | Esineb 1 haiguses |
| EXT1exostosin glycosyltransferase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Väga sageli (80–99%) | Esineb 2 haiguses |
| HDAC8histone deacetylase 8 | Väga sageli (80–99%) | Esineb 1 haiguses |
| IRF6interferon regulatory factor 6 | Väga sageli (80–99%) | Esineb 1 haiguses |
| IRX5iroquois homeobox 5 | Väga sageli (80–99%) | Esineb 1 haiguses |
| KAT6Alysine acetyltransferase 6A | Väga sageli (80–99%) | Esineb 2 haiguses |
| KCNMA1potassium calcium-activated channel subfamily M alpha 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| KIF14kinesin family member 14 | Väga sageli (80–99%) | Esineb 1 haiguses |
| KNL1kinetochore scaffold 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| LAS1LLAS1 like ribosome biogenesis factor | Väga sageli (80–99%) | Esineb 1 haiguses |
| MCM7minichromosome maintenance complex component 7 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MCPH1microcephalin 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| METTL5methyltransferase 5, N6-adenosine | Väga sageli (80–99%) | Esineb 1 haiguses |
| MFSD2AMFSD2 lysolipid transporter A, lysophospholipid | Väga sageli (80–99%) | Esineb 1 haiguses |
| NCAPD3non-SMC condensin II complex subunit D3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NIPBLNIPBL cohesin loading factor | Väga sageli (80–99%) | Esineb 1 haiguses |
| NOGnoggin | Väga sageli (80–99%) | Esineb 1 haiguses |
| NUP37nucleoporin 37 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PACS2phosphofurin acidic cluster sorting protein 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PDCD6IPprogrammed cell death 6 interacting protein | Väga sageli (80–99%) | Esineb 1 haiguses |
| PHC1polyhomeotic homolog 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| POLR3ARNA polymerase III subunit A | Väga sageli (80–99%) | Esineb 1 haiguses |
| PPM1Dprotein phosphatase, Mg2+/Mn2+ dependent 1D | Väga sageli (80–99%) | Esineb 1 haiguses |
| PUF60poly(U) binding splicing factor 60 | Väga sageli (80–99%) | Esineb 3 haiguses |
| PYCR2pyrroline-5-carboxylate reductase 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| QRICH1glutamine rich 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RNF135ring finger protein 135 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SARS1seryl-tRNA synthetase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SASS6SAS-6 centriolar assembly protein | Väga sageli (80–99%) | Esineb 1 haiguses |
| SMAD4SMAD family member 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| SMC3structural maintenance of chromosomes 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| STILSTIL centriolar assembly protein | Väga sageli (80–99%) | Esineb 1 haiguses |
| TAF13TATA-box binding protein associated factor 13 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TOP2BDNA topoisomerase II beta | Väga sageli (80–99%) | Esineb 1 haiguses |
| TRAPPC10trafficking protein particle complex subunit 10 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TRAPPC14trafficking protein particle complex subunit 14 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TRAPPC9trafficking protein particle complex subunit 9 | Väga sageli (80–99%) | Esineb 1 haiguses |
| WARS1tryptophanyl-tRNA synthetase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| WDR62WD repeat domain 62 | Väga sageli (80–99%) | Esineb 1 haiguses |
| AARS1alanyl-tRNA synthetase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ACBD6acyl-CoA binding domain containing 6 | Sageli (30–79%) | Esineb 1 haiguses |
| ADNPactivity dependent neuroprotector homeobox | Sageli (30–79%) | Esineb 2 haiguses |
| AGO2argonaute RISC catalytic component 2 | Sageli (30–79%) | Esineb 1 haiguses |
| AHDC1AT-hook DNA binding motif containing 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ANKRD11ankyrin repeat domain 11 | Sageli (30–79%) | Esineb 1 haiguses |
| ANKRD17ankyrin repeat domain 17 | Sageli (30–79%) | Esineb 1 haiguses |
| ARID1AAT-rich interaction domain 1A | Sageli (30–79%) | Esineb 1 haiguses |
| ARID1BAT-rich interaction domain 1B | Sageli (30–79%) | Esineb 2 haiguses |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Sageli (30–79%) | Esineb 1 haiguses |
| BCRBCR activator of RhoGEF and GTPase | Sageli (30–79%) | Esineb 1 haiguses |
| BPTFbromodomain PHD finger transcription factor | Sageli (30–79%) | Esineb 2 haiguses |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Sageli (30–79%) | Esineb 1 haiguses |
| CASP2caspase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| CCNQcyclin Q | Sageli (30–79%) | Esineb 2 haiguses |
| CDH2cadherin 2 | Sageli (30–79%) | Esineb 1 haiguses |
| CLCN6Cl-/H+ antiporter 6 | Sageli (30–79%) | Esineb 1 haiguses |
| COG1component of oligomeric golgi complex 1 | Sageli (30–79%) | Esineb 2 haiguses |
| CRKLCRK like proto-oncogene, adaptor protein | Sageli (30–79%) | Esineb 1 haiguses |
| CTCFCCCTC-binding factor | Sageli (30–79%) | Esineb 2 haiguses |
| DDX59DEAD-box helicase 59 | Sageli (30–79%) | Esineb 1 haiguses |
| DPF2double PHD fingers 2 | Sageli (30–79%) | Esineb 2 haiguses |
| DVL1dishevelled segment polarity protein 1 | Sageli (30–79%) | Esineb 2 haiguses |
| EBF3EBF transcription factor 3 | Sageli (30–79%) | Esineb 2 haiguses |
| EDEM3ER degradation enhancing alpha-mannosidase like protein 3 | Sageli (30–79%) | Esineb 1 haiguses |
| EIF5Aeukaryotic translation initiation factor 5A | Sageli (30–79%) | Esineb 1 haiguses |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Sageli (30–79%) | Esineb 1 haiguses |
| EMILIN1elastin microfibril interfacer 1 | Sageli (30–79%) | Esineb 1 haiguses |
| EXOC2exocyst complex component 2 | Sageli (30–79%) | Esineb 1 haiguses |
| FAR1fatty acyl-CoA reductase 1 | Sageli (30–79%) | Esineb 2 haiguses |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Sageli (30–79%) | Esineb 1 haiguses |
| FBN1fibrillin 1 | Sageli (30–79%) | Esineb 2 haiguses |
| FGFR2fibroblast growth factor receptor 2 | Sageli (30–79%) | Esineb 1 haiguses |
| FIG4FIG4 phosphoinositide 5-phosphatase | Sageli (30–79%) | Esineb 1 haiguses |
| GATAD2BGATA zinc finger domain containing 2B | Sageli (30–79%) | Esineb 2 haiguses |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| HIVEP2HIVEP zinc finger 2 | Sageli (30–79%) | Esineb 1 haiguses |
| HNRNPCheterogeneous nuclear ribonucleoprotein C | Sageli (30–79%) | Esineb 1 haiguses |
| HS2ST1heparan sulfate 2-O-sulfotransferase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| IFT43intraflagellar transport 43 | Sageli (30–79%) | Esineb 1 haiguses |
| KDM3Blysine demethylase 3B | Sageli (30–79%) | Esineb 1 haiguses |
| KDM6Alysine demethylase 6A | Sageli (30–79%) | Esineb 1 haiguses |
| KMT2Alysine methyltransferase 2A | Sageli (30–79%) | Esineb 2 haiguses |
| KMT2Dlysine methyltransferase 2D | Sageli (30–79%) | Esineb 2 haiguses |
| LTBP3latent transforming growth factor beta binding protein 3 | Sageli (30–79%) | Esineb 1 haiguses |
| MAFMAF bZIP transcription factor | Sageli (30–79%) | Esineb 2 haiguses |
| MAGEL2MAGE family member L2 | Sageli (30–79%) | Esineb 3 haiguses |
| MAN1B1mannosidase alpha class 1B member 1 | Sageli (30–79%) | Esineb 2 haiguses |
| MAPK1mitogen-activated protein kinase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| MAU2MAU2 sister chromatid cohesion factor | Sageli (30–79%) | Esineb 1 haiguses |
| MCTP2multiple C2 and transmembrane domain containing 2 | Sageli (30–79%) | Esineb 1 haiguses |
| MKRN3makorin ring finger protein 3 | Sageli (30–79%) | Esineb 1 haiguses |
| MYO18Bmyosin XVIIIB | Sageli (30–79%) | Esineb 1 haiguses |
| NPAP1nuclear pore associated protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| OGTO-linked N-acetylglucosamine (GlcNAc) transferase | Sageli (30–79%) | Esineb 1 haiguses |
| OTUD6BOTU deubiquitinase 6B | Sageli (30–79%) | Esineb 2 haiguses |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Sageli (30–79%) | Esineb 1 haiguses |
| PCGF2polycomb group ring finger 2 | Sageli (30–79%) | Esineb 1 haiguses |
| PGM2L1phosphoglucomutase 2 like 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Sageli (30–79%) | Esineb 1 haiguses |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Sageli (30–79%) | Esineb 1 haiguses |
| PLPBPpyridoxal phosphate binding protein | Sageli (30–79%) | Esineb 1 haiguses |
| PMM2phosphomannomutase 2 | Sageli (30–79%) | Esineb 2 haiguses |
| POGZpogo transposable element derived with ZNF domain | Sageli (30–79%) | Esineb 2 haiguses |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Sageli (30–79%) | Esineb 1 haiguses |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Sageli (30–79%) | Esineb 1 haiguses |
| PWAR1Prader Willi/Angelman region RNA 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ROR2ROR family WNT receptor 2 | Sageli (30–79%) | Esineb 1 haiguses |
| RPL10ribosomal protein L10 | Sageli (30–79%) | Esineb 3 haiguses |
| SATB2SATB homeobox 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Sageli (30–79%) | Esineb 1 haiguses |
| SETD5SET domain containing 5 | Sageli (30–79%) | Esineb 1 haiguses |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Sageli (30–79%) | Esineb 2 haiguses |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Sageli (30–79%) | Esineb 1 haiguses |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Sageli (30–79%) | Esineb 2 haiguses |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Sageli (30–79%) | Esineb 1 haiguses |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Sageli (30–79%) | Esineb 2 haiguses |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Sageli (30–79%) | Esineb 1 haiguses |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Sageli (30–79%) | Esineb 1 haiguses |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Sageli (30–79%) | Esineb 2 haiguses |
| SOX11SRY-box transcription factor 11 | Sageli (30–79%) | Esineb 1 haiguses |
| SOX4SRY-box transcription factor 4 | Sageli (30–79%) | Esineb 1 haiguses |
| SRCAPSnf2 related CREBBP activator protein | Sageli (30–79%) | Esineb 2 haiguses |
| SRRM2serine/arginine repetitive matrix 2 | Sageli (30–79%) | Esineb 1 haiguses |
| STT3ASTT3 oligosaccharyltransferase complex catalytic subunit A | Sageli (30–79%) | Esineb 1 haiguses |
| TAF1TATA-box binding protein associated factor 1 | Sageli (30–79%) | Esineb 2 haiguses |
| TASP1taspase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TBC1D24TBC1 domain family member 24 | Sageli (30–79%) | Esineb 2 haiguses |
| TLK2tousled like kinase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| TMEM94transmembrane protein 94 | Sageli (30–79%) | Esineb 1 haiguses |
| TPRtranslocated promoter region, nuclear basket protein | Sageli (30–79%) | Esineb 1 haiguses |
| TTC5tetratricopeptide repeat domain 5 | Sageli (30–79%) | Esineb 1 haiguses |
| WASHC4WASH complex subunit 4 | Sageli (30–79%) | Esineb 1 haiguses |
| ZFXzinc finger protein X-linked | Sageli (30–79%) | Esineb 1 haiguses |
| ADARB1adenosine deaminase RNA specific B1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ADGRG6adhesion G protein-coupled receptor G6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| AFF3ALF transcription elongation factor 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| AFF4ALF transcription elongation factor 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| AGR2anterior gradient 2, protein disulphide isomerase family member | Mõnikord (5–29%) | Esineb 1 haiguses |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Mõnikord (5–29%) | Esineb 2 haiguses |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| ARMC9armadillo repeat containing 9 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ASXL2ASXL transcriptional regulator 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ASXL3ASXL transcriptional regulator 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATXN7L3ataxin 7 like 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| B4GALT1beta-1,4-galactosyltransferase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BCKDKbranched chain keto acid dehydrogenase kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| CAPRIN1cell cycle associated protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CDC42BPBCDC42 binding protein kinase beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| CDK13cyclin dependent kinase 13 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CSNK2A1casein kinase 2 alpha 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CTNNB1catenin beta 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| CUX1cut like homeobox 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DDB1damage specific DNA binding protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DHPSdeoxyhypusine synthase | Mõnikord (5–29%) | Esineb 1 haiguses |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Mõnikord (5–29%) | Esineb 2 haiguses |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Mõnikord (5–29%) | Esineb 1 haiguses |
| FBXO11F-box protein 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GAD1glutamate decarboxylase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GJA5gap junction protein alpha 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GJA8gap junction protein alpha 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GNAI1G protein subunit alpha i1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GNB2G protein subunit beta 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| H4C5H4 clustered histone 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HK1hexokinase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KATNB1katanin regulatory subunit B1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNJ5potassium inwardly rectifying channel subfamily J member 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KDM5Clysine demethylase 5C | Mõnikord (5–29%) | Esineb 1 haiguses |
| KIF15kinesin family member 15 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KLHL20kelch like family member 20 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAPRE2microtubule associated protein RP/EB family member 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MED12mediator complex subunit 12 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MED12Lmediator complex subunit 12L | Mõnikord (5–29%) | Esineb 1 haiguses |
| MEF2Cmyocyte enhancer factor 2C | Mõnikord (5–29%) | Esineb 1 haiguses |
| MPC1mitochondrial pyruvate carrier 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NDNnecdin, MAGE family member | Mõnikord (5–29%) | Esineb 1 haiguses |
| NONOnon-POU domain containing octamer binding | Mõnikord (5–29%) | Esineb 1 haiguses |
| OCA2OCA2 melanosomal transmembrane protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Mõnikord (5–29%) | Esineb 1 haiguses |
| ODC1ornithine decarboxylase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PACS1phosphofurin acidic cluster sorting protein 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| PDE4Dphosphodiesterase 4D | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Mõnikord (5–29%) | Esineb 1 haiguses |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Mõnikord (5–29%) | Esineb 1 haiguses |
| PRKAR1Bprotein kinase cAMP-dependent type I regulatory subunit beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| PRKDCprotein kinase, DNA-activated, catalytic subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| PURApurine rich element binding protein A | Mõnikord (5–29%) | Esineb 1 haiguses |
| RAI1retinoic acid induced 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RAP1BRAP1B, member of RAS oncogene family | Mõnikord (5–29%) | Esineb 1 haiguses |
| RFX7regulatory factor X7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RHOBTB2Rho related BTB domain containing 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SETBP1SET binding protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SHMT2serine hydroxymethyltransferase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SIM1SIM bHLH transcription factor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SIN3ASIN3 transcription regulator family member A | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC26A2solute carrier family 26 member 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC6A1solute carrier family 6 member 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| SLC6A11solute carrier family 6 member 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC9A7solute carrier family 9 member A7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMC1Astructural maintenance of chromosomes 1A | Mõnikord (5–29%) | Esineb 2 haiguses |
| SMPD4sphingomyelin phosphodiesterase 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SPENspen family transcriptional repressor | Mõnikord (5–29%) | Esineb 1 haiguses |
| STEEP1STING1 ER exit protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SYT1synaptotagmin 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| TAF6TATA-box binding protein associated factor 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TBC1D32TBC1 domain family member 32 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TBL1XR1TBL1X/Y related 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TMEM147transmembrane protein 147 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TNRC6Btrinucleotide repeat containing adaptor 6B | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRIOtrio Rho guanine nucleotide exchange factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRIP12thyroid hormone receptor interactor 12 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRMT10AtRNA methyltransferase 10A | Mõnikord (5–29%) | Esineb 1 haiguses |
| TUBGCP2tubulin gamma complex component 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| USP9Xubiquitin specific peptidase 9 X-linked | Mõnikord (5–29%) | Esineb 1 haiguses |
| WACWW domain containing adaptor with coiled-coil | Mõnikord (5–29%) | Esineb 2 haiguses |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Mõnikord (5–29%) | Esineb 1 haiguses |
| WDR26WD repeat domain 26 | Mõnikord (5–29%) | Esineb 1 haiguses |
| WDR83OSWD repeat domain 83 opposite strand | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZNF292zinc finger protein 292 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZNF526zinc finger protein 526 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CHD2chromodomain helicase DNA binding protein 2 | Harva (1–4%) | Esineb 1 haiguses |
| CNTNAP2contactin associated protein 2 | Harva (1–4%) | Esineb 1 haiguses |
| NEXMIFneurite extension and migration factor | Harva (1–4%) | Esineb 1 haiguses |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Harva (1–4%) | Esineb 1 haiguses |
| RNU4-2RNA, U4 small nuclear 2 | Harva (1–4%) | Esineb 1 haiguses |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Harva (1–4%) | Esineb 1 haiguses |
| SLC2A1solute carrier family 2 member 1 | Harva (1–4%) | Esineb 1 haiguses |
| SPTBN1spectrin beta, non-erythrocytic 1 | Harva (1–4%) | Esineb 1 haiguses |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Harva (1–4%) | Esineb 1 haiguses |
| ACTG1actin gamma 1 | Pole registreeritud | Esineb 1 haiguses |
| AGLamylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase | Pole registreeritud | Esineb 1 haiguses |
| AGO1argonaute RISC component 1 | Pole registreeritud | Esineb 1 haiguses |
| ARHGEF2Rho/Rac guanine nucleotide exchange factor 2 | Pole registreeritud | Esineb 1 haiguses |
| ATN1atrophin 1 | Pole registreeritud | Esineb 1 haiguses |
| ATRXATRX chromatin remodeler | Pole registreeritud | Esineb 1 haiguses |
| CDK10cyclin dependent kinase 10 | Pole registreeritud | Esineb 1 haiguses |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Pole registreeritud | Esineb 1 haiguses |
| CLTCclathrin heavy chain | Pole registreeritud | Esineb 1 haiguses |
| FOXG1forkhead box G1 | Pole registreeritud | Esineb 1 haiguses |
| GLIS3GLIS family zinc finger 3 | Pole registreeritud | Esineb 1 haiguses |
| IGF1Rinsulin like growth factor 1 receptor | Pole registreeritud | Esineb 1 haiguses |
| KAT6Blysine acetyltransferase 6B | Pole registreeritud | Esineb 1 haiguses |
| KIF11kinesin family member 11 | Pole registreeritud | Esineb 1 haiguses |
| LMBRD1LMBR1 domain containing 1 | Pole registreeritud | Esineb 1 haiguses |
| MBD5methyl-CpG binding domain protein 5 | Pole registreeritud | Esineb 1 haiguses |
| MED13mediator complex subunit 13 | Pole registreeritud | Esineb 1 haiguses |
| MID1midline 1 | Pole registreeritud | Esineb 1 haiguses |
| MTORmechanistic target of rapamycin kinase | Pole registreeritud | Esineb 1 haiguses |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Pole registreeritud | Esineb 1 haiguses |
| NALCNsodium leak channel, non-selective | Pole registreeritud | Esineb 1 haiguses |
| NFIAnuclear factor I A | Pole registreeritud | Esineb 1 haiguses |
| PBX1PBX homeobox 1 | Pole registreeritud | Esineb 1 haiguses |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Pole registreeritud | Esineb 1 haiguses |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Pole registreeritud | Esineb 1 haiguses |
| PIGKphosphatidylinositol glycan anchor biosynthesis class K | Pole registreeritud | Esineb 1 haiguses |
| PQBP1polyglutamine binding protein 1 | Pole registreeritud | Esineb 1 haiguses |
| RALARAS like proto-oncogene A | Pole registreeritud | Esineb 1 haiguses |
| SLC25A24solute carrier family 25 member 24 | Pole registreeritud | Esineb 1 haiguses |
| STAG2STAG2 cohesin complex component | Pole registreeritud | Esineb 1 haiguses |
| TCF20transcription factor 20 | Pole registreeritud | Esineb 1 haiguses |
| THUMPD1THUMP domain 1 NAT10 acetyltransferase adaptor | Pole registreeritud | Esineb 1 haiguses |
| TRRAPtransformation/transcription domain associated protein | Pole registreeritud | Esineb 1 haiguses |
| UNC80unc-80 subunit of NALCN channel complex | Pole registreeritud | Esineb 1 haiguses |
| WNT5AWnt family member 5A | Pole registreeritud | Esineb 1 haiguses |
| ZBTB18zinc finger and BTB domain containing 18 | 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