Træk
Thin red part of the upper lip
Klinisk navn: 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).
Resumé
- Også kaldet
- 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
- Kropssystem
- Abnormality of head or neck
ReferencegenomGRCh38hg38
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Bestil min Genome Test346 gener knyttet til Thin red part of the upper lip
Ændringer i disse gener forårsager sjældne tilstande, hvor Thin red part of the upper lip ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ABCC9ATP binding cassette subfamily C member 9 | Altid | I 1 tilstand |
| ACTBactin beta | Altid | I 2 tilstande |
| ADAMTSL2ADAMTS like 2 | Altid | I 2 tilstande |
| ADSLadenylosuccinate lyase | Altid | I 2 tilstande |
| AMMECR1AMMECR nuclear protein 1 | Altid | I 1 tilstand |
| AMOTL1angiomotin like 1 | Altid | I 1 tilstand |
| AP3B1adaptor related protein complex 3 subunit beta 1 | Altid | I 1 tilstand |
| ARID2AT-rich interaction domain 2 | Altid | I 2 tilstande |
| ARXaristaless related homeobox | Altid | I 1 tilstand |
| ATIC5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase | Altid | I 2 tilstande |
| ATP9AATPase phospholipid transporting 9A | Altid | I 1 tilstand |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Altid | I 2 tilstande |
| CCNKcyclin K | Altid | I 1 tilstand |
| CDC42cell division cycle 42 | Altid | I 2 tilstande |
| CDH11cadherin 11 | Altid | I 2 tilstande |
| CEP295centrosomal protein 295 | Altid | I 1 tilstand |
| CHST14carbohydrate sulfotransferase 14 | Altid | I 2 tilstande |
| CLCN3Cl-/H+ antiporter 3 | Altid | I 1 tilstand |
| CNOT2CCR4-NOT transcription complex subunit 2 | Altid | I 1 tilstand |
| CPLX1complexin 1 | Altid | I 1 tilstand |
| CREBBPCREB binding lysine acetyltransferase | Altid | I 2 tilstande |
| DCPSdecapping enzyme, scavenger | Altid | I 1 tilstand |
| DHX9DExH-box helicase 9 | Altid | I 1 tilstand |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Altid | I 1 tilstand |
| EP300EP300 lysine acetyltransferase | Altid | I 2 tilstande |
| EXOSC2exosome component 2 | Altid | I 1 tilstand |
| IFIH1interferon induced with helicase C domain 1 | Altid | I 1 tilstand |
| IFT140intraflagellar transport 140 | Altid | I 1 tilstand |
| INTS11integrator complex subunit 11 | Altid | I 1 tilstand |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Altid | I 2 tilstande |
| KCNK3potassium two pore domain channel subfamily K member 3 | Altid | I 1 tilstand |
| KCNK4potassium two pore domain channel subfamily K member 4 | Altid | I 1 tilstand |
| KDM1Alysine demethylase 1A | Altid | I 2 tilstande |
| MEIS2Meis homeobox 2 | Altid | I 1 tilstand |
| MKS1MKS transition zone complex subunit 1 | Altid | I 1 tilstand |
| MYMXmyomixer, myoblast fusion factor | Altid | I 1 tilstand |
| NAA80N-alpha-acetyltransferase 80, NatH catalytic subunit | Altid | I 1 tilstand |
| OPHN1oligophrenin 1 | Altid | I 1 tilstand |
| PAK3p21 (RAC1) activated kinase 3 | Altid | I 1 tilstand |
| PDGFRBplatelet derived growth factor receptor beta | Altid | I 1 tilstand |
Vis 306 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Altid | I 1 tilstand |
| PITX2paired like homeodomain 2 | Altid | I 1 tilstand |
| PPFIA3PPFI scaffold protein A3 | Altid | I 1 tilstand |
| PTRH2peptidyl-tRNA hydrolase 2 | Altid | I 2 tilstande |
| RAD21RAD21 cohesin complex component | Altid | I 2 tilstande |
| RNU2-2RNA, U2 small nuclear 2 | Altid | I 1 tilstand |
| RNU4ATACRNA, U4atac small nuclear | Altid | I 2 tilstande |
| SEC23ASEC23 homolog A, COPII component | Altid | I 1 tilstand |
| SH3PXD2BSH3 and PX domains 2B | Altid | I 1 tilstand |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Altid | I 1 tilstand |
| TBCEtubulin folding cofactor E | Altid | I 1 tilstand |
| TM2D3TM2 domain containing 3 | Altid | I 1 tilstand |
| TRPS1transcriptional repressor GATA binding 1 | Altid | I 3 tilstande |
| UBAP2Lubiquitin associated protein 2 like | Altid | I 1 tilstand |
| UBE3Bubiquitin protein ligase E3B | Altid | I 1 tilstand |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Altid | I 1 tilstand |
| VPS35LVPS35 endosomal protein sorting factor like | Altid | I 1 tilstand |
| VPS51VPS51 subunit of GARP complex | Altid | I 1 tilstand |
| WDR19WD repeat domain 19 | Altid | I 1 tilstand |
| ZNF407zinc finger protein 407 | Altid | I 1 tilstand |
| ANKLE2ankyrin repeat and LEM domain containing 2 | Meget ofte (80–99 %) | I 1 tilstand |
| ASPMassembly factor for spindle microtubules | Meget ofte (80–99 %) | I 1 tilstand |
| B3GLCTbeta 3-glucosyltransferase | Meget ofte (80–99 %) | I 2 tilstande |
| BCL11ABCL11 transcription factor A | Meget ofte (80–99 %) | I 1 tilstand |
| BCL11BBCL11 transcription factor B | Meget ofte (80–99 %) | I 1 tilstand |
| BMP2bone morphogenetic protein 2 | Meget ofte (80–99 %) | I 1 tilstand |
| CDK5RAP2CDK5 regulatory subunit associated protein 2 | Meget ofte (80–99 %) | I 1 tilstand |
| CDK6cyclin dependent kinase 6 | Meget ofte (80–99 %) | I 1 tilstand |
| CENPEcentromere protein E | Meget ofte (80–99 %) | I 1 tilstand |
| CEP135centrosomal protein 135 | Meget ofte (80–99 %) | I 1 tilstand |
| CEP152centrosomal protein 152 | Meget ofte (80–99 %) | I 1 tilstand |
| CHAMP1chromosome alignment maintaining phosphoprotein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| CITcitron rho-interacting serine/threonine kinase | Meget ofte (80–99 %) | I 1 tilstand |
| COPB2coat protein complex I subunit beta 2 | Meget ofte (80–99 %) | I 1 tilstand |
| CPAPcentrosome assembly and centriole elongation protein | Meget ofte (80–99 %) | I 1 tilstand |
| DSEdermatan sulfate epimerase | Meget ofte (80–99 %) | I 1 tilstand |
| EXT1exostosin glycosyltransferase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Meget ofte (80–99 %) | I 2 tilstande |
| HDAC8histone deacetylase 8 | Meget ofte (80–99 %) | I 1 tilstand |
| IRF6interferon regulatory factor 6 | Meget ofte (80–99 %) | I 1 tilstand |
| IRX5iroquois homeobox 5 | Meget ofte (80–99 %) | I 1 tilstand |
| KAT6Alysine acetyltransferase 6A | Meget ofte (80–99 %) | I 2 tilstande |
| KCNMA1potassium calcium-activated channel subfamily M alpha 1 | Meget ofte (80–99 %) | I 1 tilstand |
| KIF14kinesin family member 14 | Meget ofte (80–99 %) | I 1 tilstand |
| KNL1kinetochore scaffold 1 | Meget ofte (80–99 %) | I 1 tilstand |
| LAS1LLAS1 like ribosome biogenesis factor | Meget ofte (80–99 %) | I 1 tilstand |
| MCM7minichromosome maintenance complex component 7 | Meget ofte (80–99 %) | I 1 tilstand |
| MCPH1microcephalin 1 | Meget ofte (80–99 %) | I 1 tilstand |
| METTL5methyltransferase 5, N6-adenosine | Meget ofte (80–99 %) | I 1 tilstand |
| MFSD2AMFSD2 lysolipid transporter A, lysophospholipid | Meget ofte (80–99 %) | I 1 tilstand |
| NCAPD3non-SMC condensin II complex subunit D3 | Meget ofte (80–99 %) | I 1 tilstand |
| NIPBLNIPBL cohesin loading factor | Meget ofte (80–99 %) | I 1 tilstand |
| NOGnoggin | Meget ofte (80–99 %) | I 1 tilstand |
| NUP37nucleoporin 37 | Meget ofte (80–99 %) | I 1 tilstand |
| PACS2phosphofurin acidic cluster sorting protein 2 | Meget ofte (80–99 %) | I 1 tilstand |
| PDCD6IPprogrammed cell death 6 interacting protein | Meget ofte (80–99 %) | I 1 tilstand |
| PHC1polyhomeotic homolog 1 | Meget ofte (80–99 %) | I 1 tilstand |
| POLR3ARNA polymerase III subunit A | Meget ofte (80–99 %) | I 1 tilstand |
| PPM1Dprotein phosphatase, Mg2+/Mn2+ dependent 1D | Meget ofte (80–99 %) | I 1 tilstand |
| PUF60poly(U) binding splicing factor 60 | Meget ofte (80–99 %) | I 3 tilstande |
| PYCR2pyrroline-5-carboxylate reductase 2 | Meget ofte (80–99 %) | I 1 tilstand |
| QRICH1glutamine rich 1 | Meget ofte (80–99 %) | I 1 tilstand |
| RNF135ring finger protein 135 | Meget ofte (80–99 %) | I 1 tilstand |
| SARS1seryl-tRNA synthetase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| SASS6SAS-6 centriolar assembly protein | Meget ofte (80–99 %) | I 1 tilstand |
| SMAD4SMAD family member 4 | Meget ofte (80–99 %) | I 1 tilstand |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Meget ofte (80–99 %) | I 2 tilstande |
| SMC3structural maintenance of chromosomes 3 | Meget ofte (80–99 %) | I 1 tilstand |
| STILSTIL centriolar assembly protein | Meget ofte (80–99 %) | I 1 tilstand |
| TAF13TATA-box binding protein associated factor 13 | Meget ofte (80–99 %) | I 1 tilstand |
| TOP2BDNA topoisomerase II beta | Meget ofte (80–99 %) | I 1 tilstand |
| TRAPPC10trafficking protein particle complex subunit 10 | Meget ofte (80–99 %) | I 1 tilstand |
| TRAPPC14trafficking protein particle complex subunit 14 | Meget ofte (80–99 %) | I 1 tilstand |
| TRAPPC9trafficking protein particle complex subunit 9 | Meget ofte (80–99 %) | I 1 tilstand |
| WARS1tryptophanyl-tRNA synthetase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| WDR62WD repeat domain 62 | Meget ofte (80–99 %) | I 1 tilstand |
| AARS1alanyl-tRNA synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| ACBD6acyl-CoA binding domain containing 6 | Ofte (30–79 %) | I 1 tilstand |
| ADNPactivity dependent neuroprotector homeobox | Ofte (30–79 %) | I 2 tilstande |
| AGO2argonaute RISC catalytic component 2 | Ofte (30–79 %) | I 1 tilstand |
| AHDC1AT-hook DNA binding motif containing 1 | Ofte (30–79 %) | I 1 tilstand |
| ANKRD11ankyrin repeat domain 11 | Ofte (30–79 %) | I 1 tilstand |
| ANKRD17ankyrin repeat domain 17 | Ofte (30–79 %) | I 1 tilstand |
| ARID1AAT-rich interaction domain 1A | Ofte (30–79 %) | I 1 tilstand |
| ARID1BAT-rich interaction domain 1B | Ofte (30–79 %) | I 2 tilstande |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Ofte (30–79 %) | I 1 tilstand |
| BCRBCR activator of RhoGEF and GTPase | Ofte (30–79 %) | I 1 tilstand |
| BPTFbromodomain PHD finger transcription factor | Ofte (30–79 %) | I 2 tilstande |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Ofte (30–79 %) | I 1 tilstand |
| CASP2caspase 2 | Ofte (30–79 %) | I 1 tilstand |
| CCNQcyclin Q | Ofte (30–79 %) | I 2 tilstande |
| CDH2cadherin 2 | Ofte (30–79 %) | I 1 tilstand |
| CLCN6Cl-/H+ antiporter 6 | Ofte (30–79 %) | I 1 tilstand |
| COG1component of oligomeric golgi complex 1 | Ofte (30–79 %) | I 2 tilstande |
| CRKLCRK like proto-oncogene, adaptor protein | Ofte (30–79 %) | I 1 tilstand |
| CTCFCCCTC-binding factor | Ofte (30–79 %) | I 2 tilstande |
| DDX59DEAD-box helicase 59 | Ofte (30–79 %) | I 1 tilstand |
| DPF2double PHD fingers 2 | Ofte (30–79 %) | I 2 tilstande |
| DVL1dishevelled segment polarity protein 1 | Ofte (30–79 %) | I 2 tilstande |
| EBF3EBF transcription factor 3 | Ofte (30–79 %) | I 2 tilstande |
| EDEM3ER degradation enhancing alpha-mannosidase like protein 3 | Ofte (30–79 %) | I 1 tilstand |
| EIF5Aeukaryotic translation initiation factor 5A | Ofte (30–79 %) | I 1 tilstand |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| EMILIN1elastin microfibril interfacer 1 | Ofte (30–79 %) | I 1 tilstand |
| EXOC2exocyst complex component 2 | Ofte (30–79 %) | I 1 tilstand |
| FAR1fatty acyl-CoA reductase 1 | Ofte (30–79 %) | I 2 tilstande |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Ofte (30–79 %) | I 1 tilstand |
| FBN1fibrillin 1 | Ofte (30–79 %) | I 2 tilstande |
| FGFR2fibroblast growth factor receptor 2 | Ofte (30–79 %) | I 1 tilstand |
| FIG4FIG4 phosphoinositide 5-phosphatase | Ofte (30–79 %) | I 1 tilstand |
| GATAD2BGATA zinc finger domain containing 2B | Ofte (30–79 %) | I 2 tilstande |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Ofte (30–79 %) | I 1 tilstand |
| HIVEP2HIVEP zinc finger 2 | Ofte (30–79 %) | I 1 tilstand |
| HNRNPCheterogeneous nuclear ribonucleoprotein C | Ofte (30–79 %) | I 1 tilstand |
| HS2ST1heparan sulfate 2-O-sulfotransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Ofte (30–79 %) | I 1 tilstand |
| IFT43intraflagellar transport 43 | Ofte (30–79 %) | I 1 tilstand |
| KDM3Blysine demethylase 3B | Ofte (30–79 %) | I 1 tilstand |
| KDM6Alysine demethylase 6A | Ofte (30–79 %) | I 1 tilstand |
| KMT2Alysine methyltransferase 2A | Ofte (30–79 %) | I 2 tilstande |
| KMT2Dlysine methyltransferase 2D | Ofte (30–79 %) | I 2 tilstande |
| LTBP3latent transforming growth factor beta binding protein 3 | Ofte (30–79 %) | I 1 tilstand |
| MAFMAF bZIP transcription factor | Ofte (30–79 %) | I 2 tilstande |
| MAGEL2MAGE family member L2 | Ofte (30–79 %) | I 3 tilstande |
| MAN1B1mannosidase alpha class 1B member 1 | Ofte (30–79 %) | I 2 tilstande |
| MAPK1mitogen-activated protein kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| MAU2MAU2 sister chromatid cohesion factor | Ofte (30–79 %) | I 1 tilstand |
| MCTP2multiple C2 and transmembrane domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| MKRN3makorin ring finger protein 3 | Ofte (30–79 %) | I 1 tilstand |
| MYO18Bmyosin XVIIIB | Ofte (30–79 %) | I 1 tilstand |
| NPAP1nuclear pore associated protein 1 | Ofte (30–79 %) | I 1 tilstand |
| OGTO-linked N-acetylglucosamine (GlcNAc) transferase | Ofte (30–79 %) | I 1 tilstand |
| OTUD6BOTU deubiquitinase 6B | Ofte (30–79 %) | I 2 tilstande |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Ofte (30–79 %) | I 1 tilstand |
| PCGF2polycomb group ring finger 2 | Ofte (30–79 %) | I 1 tilstand |
| PGM2L1phosphoglucomutase 2 like 1 | Ofte (30–79 %) | I 1 tilstand |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Ofte (30–79 %) | I 1 tilstand |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Ofte (30–79 %) | I 1 tilstand |
| PLPBPpyridoxal phosphate binding protein | Ofte (30–79 %) | I 1 tilstand |
| PMM2phosphomannomutase 2 | Ofte (30–79 %) | I 2 tilstande |
| POGZpogo transposable element derived with ZNF domain | Ofte (30–79 %) | I 2 tilstande |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Ofte (30–79 %) | I 1 tilstand |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Ofte (30–79 %) | I 1 tilstand |
| PWAR1Prader Willi/Angelman region RNA 1 | Ofte (30–79 %) | I 1 tilstand |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Ofte (30–79 %) | I 1 tilstand |
| ROR2ROR family WNT receptor 2 | Ofte (30–79 %) | I 1 tilstand |
| RPL10ribosomal protein L10 | Ofte (30–79 %) | I 3 tilstande |
| SATB2SATB homeobox 2 | Ofte (30–79 %) | I 1 tilstand |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Ofte (30–79 %) | I 1 tilstand |
| SETD5SET domain containing 5 | Ofte (30–79 %) | I 1 tilstand |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Ofte (30–79 %) | I 2 tilstande |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Ofte (30–79 %) | I 1 tilstand |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Ofte (30–79 %) | I 2 tilstande |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Ofte (30–79 %) | I 1 tilstand |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Ofte (30–79 %) | I 2 tilstande |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Ofte (30–79 %) | I 1 tilstand |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Ofte (30–79 %) | I 1 tilstand |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Ofte (30–79 %) | I 2 tilstande |
| SOX11SRY-box transcription factor 11 | Ofte (30–79 %) | I 1 tilstand |
| SOX4SRY-box transcription factor 4 | Ofte (30–79 %) | I 1 tilstand |
| SRCAPSnf2 related CREBBP activator protein | Ofte (30–79 %) | I 2 tilstande |
| SRRM2serine/arginine repetitive matrix 2 | Ofte (30–79 %) | I 1 tilstand |
| STT3ASTT3 oligosaccharyltransferase complex catalytic subunit A | Ofte (30–79 %) | I 1 tilstand |
| TAF1TATA-box binding protein associated factor 1 | Ofte (30–79 %) | I 2 tilstande |
| TASP1taspase 1 | Ofte (30–79 %) | I 1 tilstand |
| TBC1D24TBC1 domain family member 24 | Ofte (30–79 %) | I 2 tilstande |
| TLK2tousled like kinase 2 | Ofte (30–79 %) | I 1 tilstand |
| TMEM94transmembrane protein 94 | Ofte (30–79 %) | I 1 tilstand |
| TPRtranslocated promoter region, nuclear basket protein | Ofte (30–79 %) | I 1 tilstand |
| TTC5tetratricopeptide repeat domain 5 | Ofte (30–79 %) | I 1 tilstand |
| WASHC4WASH complex subunit 4 | Ofte (30–79 %) | I 1 tilstand |
| ZFXzinc finger protein X-linked | Ofte (30–79 %) | I 1 tilstand |
| ADARB1adenosine deaminase RNA specific B1 | Nogle gange (5–29 %) | I 1 tilstand |
| ADGRG6adhesion G protein-coupled receptor G6 | Nogle gange (5–29 %) | I 1 tilstand |
| AFF3ALF transcription elongation factor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| AFF4ALF transcription elongation factor 4 | Nogle gange (5–29 %) | I 1 tilstand |
| AGR2anterior gradient 2, protein disulphide isomerase family member | Nogle gange (5–29 %) | I 1 tilstand |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Nogle gange (5–29 %) | I 2 tilstande |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Nogle gange (5–29 %) | I 2 tilstande |
| ARMC9armadillo repeat containing 9 | Nogle gange (5–29 %) | I 1 tilstand |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| ASXL2ASXL transcriptional regulator 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ASXL3ASXL transcriptional regulator 3 | Nogle gange (5–29 %) | I 1 tilstand |
| ATXN7L3ataxin 7 like 3 | Nogle gange (5–29 %) | I 1 tilstand |
| B4GALT1beta-1,4-galactosyltransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| BCKDKbranched chain keto acid dehydrogenase kinase | Nogle gange (5–29 %) | I 1 tilstand |
| CAPRIN1cell cycle associated protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CDC42BPBCDC42 binding protein kinase beta | Nogle gange (5–29 %) | I 1 tilstand |
| CDK13cyclin dependent kinase 13 | Nogle gange (5–29 %) | I 1 tilstand |
| CSNK2A1casein kinase 2 alpha 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CTNNB1catenin beta 1 | Nogle gange (5–29 %) | I 2 tilstande |
| CUX1cut like homeobox 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DDB1damage specific DNA binding protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DHPSdeoxyhypusine synthase | Nogle gange (5–29 %) | I 1 tilstand |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Nogle gange (5–29 %) | I 2 tilstande |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Nogle gange (5–29 %) | I 1 tilstand |
| FBXO11F-box protein 11 | Nogle gange (5–29 %) | I 1 tilstand |
| GAD1glutamate decarboxylase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GJA5gap junction protein alpha 5 | Nogle gange (5–29 %) | I 1 tilstand |
| GJA8gap junction protein alpha 8 | Nogle gange (5–29 %) | I 1 tilstand |
| GNAI1G protein subunit alpha i1 | Nogle gange (5–29 %) | I 1 tilstand |
| GNB2G protein subunit beta 2 | Nogle gange (5–29 %) | I 1 tilstand |
| H4C5H4 clustered histone 5 | Nogle gange (5–29 %) | I 1 tilstand |
| HK1hexokinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| KATNB1katanin regulatory subunit B1 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNJ5potassium inwardly rectifying channel subfamily J member 5 | Nogle gange (5–29 %) | I 1 tilstand |
| KDM5Clysine demethylase 5C | Nogle gange (5–29 %) | I 1 tilstand |
| KIF15kinesin family member 15 | Nogle gange (5–29 %) | I 1 tilstand |
| KLHL20kelch like family member 20 | Nogle gange (5–29 %) | I 1 tilstand |
| MAPRE2microtubule associated protein RP/EB family member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MED12mediator complex subunit 12 | Nogle gange (5–29 %) | I 1 tilstand |
| MED12Lmediator complex subunit 12L | Nogle gange (5–29 %) | I 1 tilstand |
| MEF2Cmyocyte enhancer factor 2C | Nogle gange (5–29 %) | I 1 tilstand |
| MPC1mitochondrial pyruvate carrier 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NDNnecdin, MAGE family member | Nogle gange (5–29 %) | I 1 tilstand |
| NONOnon-POU domain containing octamer binding | Nogle gange (5–29 %) | I 1 tilstand |
| OCA2OCA2 melanosomal transmembrane protein | Nogle gange (5–29 %) | I 1 tilstand |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Nogle gange (5–29 %) | I 1 tilstand |
| ODC1ornithine decarboxylase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PACS1phosphofurin acidic cluster sorting protein 1 | Nogle gange (5–29 %) | I 2 tilstande |
| PDE4Dphosphodiesterase 4D | Nogle gange (5–29 %) | I 1 tilstand |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Nogle gange (5–29 %) | I 1 tilstand |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Nogle gange (5–29 %) | I 1 tilstand |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Nogle gange (5–29 %) | I 1 tilstand |
| PRKAR1Bprotein kinase cAMP-dependent type I regulatory subunit beta | Nogle gange (5–29 %) | I 1 tilstand |
| PRKDCprotein kinase, DNA-activated, catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| PURApurine rich element binding protein A | Nogle gange (5–29 %) | I 1 tilstand |
| RAI1retinoic acid induced 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RAP1BRAP1B, member of RAS oncogene family | Nogle gange (5–29 %) | I 1 tilstand |
| RFX7regulatory factor X7 | Nogle gange (5–29 %) | I 1 tilstand |
| RHOBTB2Rho related BTB domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SETBP1SET binding protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SHMT2serine hydroxymethyltransferase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SIM1SIM bHLH transcription factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SIN3ASIN3 transcription regulator family member A | Nogle gange (5–29 %) | I 1 tilstand |
| SLC26A2solute carrier family 26 member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC6A1solute carrier family 6 member 1 | Nogle gange (5–29 %) | I 2 tilstande |
| SLC6A11solute carrier family 6 member 11 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC9A7solute carrier family 9 member A7 | Nogle gange (5–29 %) | I 1 tilstand |
| SMC1Astructural maintenance of chromosomes 1A | Nogle gange (5–29 %) | I 2 tilstande |
| SMPD4sphingomyelin phosphodiesterase 4 | Nogle gange (5–29 %) | I 1 tilstand |
| SPENspen family transcriptional repressor | Nogle gange (5–29 %) | I 1 tilstand |
| STEEP1STING1 ER exit protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SYT1synaptotagmin 1 | Nogle gange (5–29 %) | I 2 tilstande |
| TAF6TATA-box binding protein associated factor 6 | Nogle gange (5–29 %) | I 1 tilstand |
| TBC1D32TBC1 domain family member 32 | Nogle gange (5–29 %) | I 1 tilstand |
| TBL1XR1TBL1X/Y related 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM147transmembrane protein 147 | Nogle gange (5–29 %) | I 1 tilstand |
| TNRC6Btrinucleotide repeat containing adaptor 6B | Nogle gange (5–29 %) | I 1 tilstand |
| TRIOtrio Rho guanine nucleotide exchange factor | Nogle gange (5–29 %) | I 1 tilstand |
| TRIP12thyroid hormone receptor interactor 12 | Nogle gange (5–29 %) | I 1 tilstand |
| TRMT10AtRNA methyltransferase 10A | Nogle gange (5–29 %) | I 1 tilstand |
| TUBGCP2tubulin gamma complex component 2 | Nogle gange (5–29 %) | I 1 tilstand |
| USP9Xubiquitin specific peptidase 9 X-linked | Nogle gange (5–29 %) | I 1 tilstand |
| WACWW domain containing adaptor with coiled-coil | Nogle gange (5–29 %) | I 2 tilstande |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| WDR26WD repeat domain 26 | Nogle gange (5–29 %) | I 1 tilstand |
| WDR83OSWD repeat domain 83 opposite strand | Nogle gange (5–29 %) | I 1 tilstand |
| ZNF292zinc finger protein 292 | Nogle gange (5–29 %) | I 1 tilstand |
| ZNF526zinc finger protein 526 | Nogle gange (5–29 %) | I 1 tilstand |
| CHD2chromodomain helicase DNA binding protein 2 | Sjældent (1–4%) | I 1 tilstand |
| CNTNAP2contactin associated protein 2 | Sjældent (1–4%) | I 1 tilstand |
| NEXMIFneurite extension and migration factor | Sjældent (1–4%) | I 1 tilstand |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Sjældent (1–4%) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Sjældent (1–4%) | I 1 tilstand |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Sjældent (1–4%) | I 1 tilstand |
| SLC2A1solute carrier family 2 member 1 | Sjældent (1–4%) | I 1 tilstand |
| SPTBN1spectrin beta, non-erythrocytic 1 | Sjældent (1–4%) | I 1 tilstand |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Sjældent (1–4%) | I 1 tilstand |
| ACTG1actin gamma 1 | Ikke registreret | I 1 tilstand |
| AGLamylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase | Ikke registreret | I 1 tilstand |
| AGO1argonaute RISC component 1 | Ikke registreret | I 1 tilstand |
| ARHGEF2Rho/Rac guanine nucleotide exchange factor 2 | Ikke registreret | I 1 tilstand |
| ATN1atrophin 1 | Ikke registreret | I 1 tilstand |
| ATRXATRX chromatin remodeler | Ikke registreret | I 1 tilstand |
| CDK10cyclin dependent kinase 10 | Ikke registreret | I 1 tilstand |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Ikke registreret | I 1 tilstand |
| CLTCclathrin heavy chain | Ikke registreret | I 1 tilstand |
| FOXG1forkhead box G1 | Ikke registreret | I 1 tilstand |
| GLIS3GLIS family zinc finger 3 | Ikke registreret | I 1 tilstand |
| IGF1Rinsulin like growth factor 1 receptor | Ikke registreret | I 1 tilstand |
| KAT6Blysine acetyltransferase 6B | Ikke registreret | I 1 tilstand |
| KIF11kinesin family member 11 | Ikke registreret | I 1 tilstand |
| LMBRD1LMBR1 domain containing 1 | Ikke registreret | I 1 tilstand |
| MBD5methyl-CpG binding domain protein 5 | Ikke registreret | I 1 tilstand |
| MED13mediator complex subunit 13 | Ikke registreret | I 1 tilstand |
| MID1midline 1 | Ikke registreret | I 1 tilstand |
| MTORmechanistic target of rapamycin kinase | Ikke registreret | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Ikke registreret | I 1 tilstand |
| NALCNsodium leak channel, non-selective | Ikke registreret | I 1 tilstand |
| NFIAnuclear factor I A | Ikke registreret | I 1 tilstand |
| PBX1PBX homeobox 1 | Ikke registreret | I 1 tilstand |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Ikke registreret | I 1 tilstand |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Ikke registreret | I 1 tilstand |
| PIGKphosphatidylinositol glycan anchor biosynthesis class K | Ikke registreret | I 1 tilstand |
| PQBP1polyglutamine binding protein 1 | Ikke registreret | I 1 tilstand |
| RALARAS like proto-oncogene A | Ikke registreret | I 1 tilstand |
| SLC25A24solute carrier family 25 member 24 | Ikke registreret | I 1 tilstand |
| STAG2STAG2 cohesin complex component | Ikke registreret | I 1 tilstand |
| TCF20transcription factor 20 | Ikke registreret | I 1 tilstand |
| THUMPD1THUMP domain 1 NAT10 acetyltransferase adaptor | Ikke registreret | I 1 tilstand |
| TRRAPtransformation/transcription domain associated protein | Ikke registreret | I 1 tilstand |
| UNC80unc-80 subunit of NALCN channel complex | Ikke registreret | I 1 tilstand |
| WNT5AWnt family member 5A | Ikke registreret | I 1 tilstand |
| ZBTB18zinc finger and BTB domain containing 18 | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
Bredere træk
Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger