Cecha
Thin red part of the upper lip
Nazwa kliniczna: 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).
Podsumowanie
- Znana także jako
- 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
- Układ organizmu
- Abnormality of head or neck
Genom referencyjnyGRCh38hg38
Pozycje na stronach genów i wariantów zależą od tego wyboru, w tej przeglądarce.
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Zamawiam Genome Test346 genów powiązanych z Thin red part of the upper lip
Zmiany w tych genach powodują rzadkie choroby, w których występuje Thin red part of the upper lip. Większość osób z tą cechą nie ma żadnej z tych chorób, a gen z tej listy nic nie mówi o czyimkolwiek własnym genomie.
| Gen | Jak często występuje | Choroby |
|---|---|---|
| ABCC9ATP binding cassette subfamily C member 9 | Zawsze | W 1 chorobie |
| ACTBactin beta | Zawsze | W 2 chorobach |
| ADAMTSL2ADAMTS like 2 | Zawsze | W 2 chorobach |
| ADSLadenylosuccinate lyase | Zawsze | W 2 chorobach |
| AMMECR1AMMECR nuclear protein 1 | Zawsze | W 1 chorobie |
| AMOTL1angiomotin like 1 | Zawsze | W 1 chorobie |
| AP3B1adaptor related protein complex 3 subunit beta 1 | Zawsze | W 1 chorobie |
| ARID2AT-rich interaction domain 2 | Zawsze | W 2 chorobach |
| ARXaristaless related homeobox | Zawsze | W 1 chorobie |
| ATIC5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase | Zawsze | W 2 chorobach |
| ATP9AATPase phospholipid transporting 9A | Zawsze | W 1 chorobie |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Zawsze | W 2 chorobach |
| CCNKcyclin K | Zawsze | W 1 chorobie |
| CDC42cell division cycle 42 | Zawsze | W 2 chorobach |
| CDH11cadherin 11 | Zawsze | W 2 chorobach |
| CEP295centrosomal protein 295 | Zawsze | W 1 chorobie |
| CHST14carbohydrate sulfotransferase 14 | Zawsze | W 2 chorobach |
| CLCN3Cl-/H+ antiporter 3 | Zawsze | W 1 chorobie |
| CNOT2CCR4-NOT transcription complex subunit 2 | Zawsze | W 1 chorobie |
| CPLX1complexin 1 | Zawsze | W 1 chorobie |
| CREBBPCREB binding lysine acetyltransferase | Zawsze | W 2 chorobach |
| DCPSdecapping enzyme, scavenger | Zawsze | W 1 chorobie |
| DHX9DExH-box helicase 9 | Zawsze | W 1 chorobie |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Zawsze | W 1 chorobie |
| EP300EP300 lysine acetyltransferase | Zawsze | W 2 chorobach |
| EXOSC2exosome component 2 | Zawsze | W 1 chorobie |
| IFIH1interferon induced with helicase C domain 1 | Zawsze | W 1 chorobie |
| IFT140intraflagellar transport 140 | Zawsze | W 1 chorobie |
| INTS11integrator complex subunit 11 | Zawsze | W 1 chorobie |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Zawsze | W 2 chorobach |
| KCNK3potassium two pore domain channel subfamily K member 3 | Zawsze | W 1 chorobie |
| KCNK4potassium two pore domain channel subfamily K member 4 | Zawsze | W 1 chorobie |
| KDM1Alysine demethylase 1A | Zawsze | W 2 chorobach |
| MEIS2Meis homeobox 2 | Zawsze | W 1 chorobie |
| MKS1MKS transition zone complex subunit 1 | Zawsze | W 1 chorobie |
| MYMXmyomixer, myoblast fusion factor | Zawsze | W 1 chorobie |
| NAA80N-alpha-acetyltransferase 80, NatH catalytic subunit | Zawsze | W 1 chorobie |
| OPHN1oligophrenin 1 | Zawsze | W 1 chorobie |
| PAK3p21 (RAC1) activated kinase 3 | Zawsze | W 1 chorobie |
| PDGFRBplatelet derived growth factor receptor beta | Zawsze | W 1 chorobie |
Pokaż jeszcze 306 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Zawsze | W 1 chorobie |
| PITX2paired like homeodomain 2 | Zawsze | W 1 chorobie |
| PPFIA3PPFI scaffold protein A3 | Zawsze | W 1 chorobie |
| PTRH2peptidyl-tRNA hydrolase 2 | Zawsze | W 2 chorobach |
| RAD21RAD21 cohesin complex component | Zawsze | W 2 chorobach |
| RNU2-2RNA, U2 small nuclear 2 | Zawsze | W 1 chorobie |
| RNU4ATACRNA, U4atac small nuclear | Zawsze | W 2 chorobach |
| SEC23ASEC23 homolog A, COPII component | Zawsze | W 1 chorobie |
| SH3PXD2BSH3 and PX domains 2B | Zawsze | W 1 chorobie |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Zawsze | W 1 chorobie |
| TBCEtubulin folding cofactor E | Zawsze | W 1 chorobie |
| TM2D3TM2 domain containing 3 | Zawsze | W 1 chorobie |
| TRPS1transcriptional repressor GATA binding 1 | Zawsze | W 3 chorobach |
| UBAP2Lubiquitin associated protein 2 like | Zawsze | W 1 chorobie |
| UBE3Bubiquitin protein ligase E3B | Zawsze | W 1 chorobie |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Zawsze | W 1 chorobie |
| VPS35LVPS35 endosomal protein sorting factor like | Zawsze | W 1 chorobie |
| VPS51VPS51 subunit of GARP complex | Zawsze | W 1 chorobie |
| WDR19WD repeat domain 19 | Zawsze | W 1 chorobie |
| ZNF407zinc finger protein 407 | Zawsze | W 1 chorobie |
| ANKLE2ankyrin repeat and LEM domain containing 2 | Bardzo często (80–99%) | W 1 chorobie |
| ASPMassembly factor for spindle microtubules | Bardzo często (80–99%) | W 1 chorobie |
| B3GLCTbeta 3-glucosyltransferase | Bardzo często (80–99%) | W 2 chorobach |
| BCL11ABCL11 transcription factor A | Bardzo często (80–99%) | W 1 chorobie |
| BCL11BBCL11 transcription factor B | Bardzo często (80–99%) | W 1 chorobie |
| BMP2bone morphogenetic protein 2 | Bardzo często (80–99%) | W 1 chorobie |
| CDK5RAP2CDK5 regulatory subunit associated protein 2 | Bardzo często (80–99%) | W 1 chorobie |
| CDK6cyclin dependent kinase 6 | Bardzo często (80–99%) | W 1 chorobie |
| CENPEcentromere protein E | Bardzo często (80–99%) | W 1 chorobie |
| CEP135centrosomal protein 135 | Bardzo często (80–99%) | W 1 chorobie |
| CEP152centrosomal protein 152 | Bardzo często (80–99%) | W 1 chorobie |
| CHAMP1chromosome alignment maintaining phosphoprotein 1 | Bardzo często (80–99%) | W 1 chorobie |
| CITcitron rho-interacting serine/threonine kinase | Bardzo często (80–99%) | W 1 chorobie |
| COPB2coat protein complex I subunit beta 2 | Bardzo często (80–99%) | W 1 chorobie |
| CPAPcentrosome assembly and centriole elongation protein | Bardzo często (80–99%) | W 1 chorobie |
| DSEdermatan sulfate epimerase | Bardzo często (80–99%) | W 1 chorobie |
| EXT1exostosin glycosyltransferase 1 | Bardzo często (80–99%) | W 1 chorobie |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Bardzo często (80–99%) | W 2 chorobach |
| HDAC8histone deacetylase 8 | Bardzo często (80–99%) | W 1 chorobie |
| IRF6interferon regulatory factor 6 | Bardzo często (80–99%) | W 1 chorobie |
| IRX5iroquois homeobox 5 | Bardzo często (80–99%) | W 1 chorobie |
| KAT6Alysine acetyltransferase 6A | Bardzo często (80–99%) | W 2 chorobach |
| KCNMA1potassium calcium-activated channel subfamily M alpha 1 | Bardzo często (80–99%) | W 1 chorobie |
| KIF14kinesin family member 14 | Bardzo często (80–99%) | W 1 chorobie |
| KNL1kinetochore scaffold 1 | Bardzo często (80–99%) | W 1 chorobie |
| LAS1LLAS1 like ribosome biogenesis factor | Bardzo często (80–99%) | W 1 chorobie |
| MCM7minichromosome maintenance complex component 7 | Bardzo często (80–99%) | W 1 chorobie |
| MCPH1microcephalin 1 | Bardzo często (80–99%) | W 1 chorobie |
| METTL5methyltransferase 5, N6-adenosine | Bardzo często (80–99%) | W 1 chorobie |
| MFSD2AMFSD2 lysolipid transporter A, lysophospholipid | Bardzo często (80–99%) | W 1 chorobie |
| NCAPD3non-SMC condensin II complex subunit D3 | Bardzo często (80–99%) | W 1 chorobie |
| NIPBLNIPBL cohesin loading factor | Bardzo często (80–99%) | W 1 chorobie |
| NOGnoggin | Bardzo często (80–99%) | W 1 chorobie |
| NUP37nucleoporin 37 | Bardzo często (80–99%) | W 1 chorobie |
| PACS2phosphofurin acidic cluster sorting protein 2 | Bardzo często (80–99%) | W 1 chorobie |
| PDCD6IPprogrammed cell death 6 interacting protein | Bardzo często (80–99%) | W 1 chorobie |
| PHC1polyhomeotic homolog 1 | Bardzo często (80–99%) | W 1 chorobie |
| POLR3ARNA polymerase III subunit A | Bardzo często (80–99%) | W 1 chorobie |
| PPM1Dprotein phosphatase, Mg2+/Mn2+ dependent 1D | Bardzo często (80–99%) | W 1 chorobie |
| PUF60poly(U) binding splicing factor 60 | Bardzo często (80–99%) | W 3 chorobach |
| PYCR2pyrroline-5-carboxylate reductase 2 | Bardzo często (80–99%) | W 1 chorobie |
| QRICH1glutamine rich 1 | Bardzo często (80–99%) | W 1 chorobie |
| RNF135ring finger protein 135 | Bardzo często (80–99%) | W 1 chorobie |
| SARS1seryl-tRNA synthetase 1 | Bardzo często (80–99%) | W 1 chorobie |
| SASS6SAS-6 centriolar assembly protein | Bardzo często (80–99%) | W 1 chorobie |
| SMAD4SMAD family member 4 | Bardzo często (80–99%) | W 1 chorobie |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Bardzo często (80–99%) | W 2 chorobach |
| SMC3structural maintenance of chromosomes 3 | Bardzo często (80–99%) | W 1 chorobie |
| STILSTIL centriolar assembly protein | Bardzo często (80–99%) | W 1 chorobie |
| TAF13TATA-box binding protein associated factor 13 | Bardzo często (80–99%) | W 1 chorobie |
| TOP2BDNA topoisomerase II beta | Bardzo często (80–99%) | W 1 chorobie |
| TRAPPC10trafficking protein particle complex subunit 10 | Bardzo często (80–99%) | W 1 chorobie |
| TRAPPC14trafficking protein particle complex subunit 14 | Bardzo często (80–99%) | W 1 chorobie |
| TRAPPC9trafficking protein particle complex subunit 9 | Bardzo często (80–99%) | W 1 chorobie |
| WARS1tryptophanyl-tRNA synthetase 1 | Bardzo często (80–99%) | W 1 chorobie |
| WDR62WD repeat domain 62 | Bardzo często (80–99%) | W 1 chorobie |
| AARS1alanyl-tRNA synthetase 1 | Często (30–79%) | W 1 chorobie |
| ACBD6acyl-CoA binding domain containing 6 | Często (30–79%) | W 1 chorobie |
| ADNPactivity dependent neuroprotector homeobox | Często (30–79%) | W 2 chorobach |
| AGO2argonaute RISC catalytic component 2 | Często (30–79%) | W 1 chorobie |
| AHDC1AT-hook DNA binding motif containing 1 | Często (30–79%) | W 1 chorobie |
| ANKRD11ankyrin repeat domain 11 | Często (30–79%) | W 1 chorobie |
| ANKRD17ankyrin repeat domain 17 | Często (30–79%) | W 1 chorobie |
| ARID1AAT-rich interaction domain 1A | Często (30–79%) | W 1 chorobie |
| ARID1BAT-rich interaction domain 1B | Często (30–79%) | W 2 chorobach |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Często (30–79%) | W 1 chorobie |
| BCRBCR activator of RhoGEF and GTPase | Często (30–79%) | W 1 chorobie |
| BPTFbromodomain PHD finger transcription factor | Często (30–79%) | W 2 chorobach |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Często (30–79%) | W 1 chorobie |
| CASP2caspase 2 | Często (30–79%) | W 1 chorobie |
| CCNQcyclin Q | Często (30–79%) | W 2 chorobach |
| CDH2cadherin 2 | Często (30–79%) | W 1 chorobie |
| CLCN6Cl-/H+ antiporter 6 | Często (30–79%) | W 1 chorobie |
| COG1component of oligomeric golgi complex 1 | Często (30–79%) | W 2 chorobach |
| CRKLCRK like proto-oncogene, adaptor protein | Często (30–79%) | W 1 chorobie |
| CTCFCCCTC-binding factor | Często (30–79%) | W 2 chorobach |
| DDX59DEAD-box helicase 59 | Często (30–79%) | W 1 chorobie |
| DPF2double PHD fingers 2 | Często (30–79%) | W 2 chorobach |
| DVL1dishevelled segment polarity protein 1 | Często (30–79%) | W 2 chorobach |
| EBF3EBF transcription factor 3 | Często (30–79%) | W 2 chorobach |
| EDEM3ER degradation enhancing alpha-mannosidase like protein 3 | Często (30–79%) | W 1 chorobie |
| EIF5Aeukaryotic translation initiation factor 5A | Często (30–79%) | W 1 chorobie |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Często (30–79%) | W 1 chorobie |
| EMILIN1elastin microfibril interfacer 1 | Często (30–79%) | W 1 chorobie |
| EXOC2exocyst complex component 2 | Często (30–79%) | W 1 chorobie |
| FAR1fatty acyl-CoA reductase 1 | Często (30–79%) | W 2 chorobach |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Często (30–79%) | W 1 chorobie |
| FBN1fibrillin 1 | Często (30–79%) | W 2 chorobach |
| FGFR2fibroblast growth factor receptor 2 | Często (30–79%) | W 1 chorobie |
| FIG4FIG4 phosphoinositide 5-phosphatase | Często (30–79%) | W 1 chorobie |
| GATAD2BGATA zinc finger domain containing 2B | Często (30–79%) | W 2 chorobach |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Często (30–79%) | W 1 chorobie |
| HIVEP2HIVEP zinc finger 2 | Często (30–79%) | W 1 chorobie |
| HNRNPCheterogeneous nuclear ribonucleoprotein C | Często (30–79%) | W 1 chorobie |
| HS2ST1heparan sulfate 2-O-sulfotransferase 1 | Często (30–79%) | W 1 chorobie |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Często (30–79%) | W 1 chorobie |
| IFT43intraflagellar transport 43 | Często (30–79%) | W 1 chorobie |
| KDM3Blysine demethylase 3B | Często (30–79%) | W 1 chorobie |
| KDM6Alysine demethylase 6A | Często (30–79%) | W 1 chorobie |
| KMT2Alysine methyltransferase 2A | Często (30–79%) | W 2 chorobach |
| KMT2Dlysine methyltransferase 2D | Często (30–79%) | W 2 chorobach |
| LTBP3latent transforming growth factor beta binding protein 3 | Często (30–79%) | W 1 chorobie |
| MAFMAF bZIP transcription factor | Często (30–79%) | W 2 chorobach |
| MAGEL2MAGE family member L2 | Często (30–79%) | W 3 chorobach |
| MAN1B1mannosidase alpha class 1B member 1 | Często (30–79%) | W 2 chorobach |
| MAPK1mitogen-activated protein kinase 1 | Często (30–79%) | W 1 chorobie |
| MAU2MAU2 sister chromatid cohesion factor | Często (30–79%) | W 1 chorobie |
| MCTP2multiple C2 and transmembrane domain containing 2 | Często (30–79%) | W 1 chorobie |
| MKRN3makorin ring finger protein 3 | Często (30–79%) | W 1 chorobie |
| MYO18Bmyosin XVIIIB | Często (30–79%) | W 1 chorobie |
| NPAP1nuclear pore associated protein 1 | Często (30–79%) | W 1 chorobie |
| OGTO-linked N-acetylglucosamine (GlcNAc) transferase | Często (30–79%) | W 1 chorobie |
| OTUD6BOTU deubiquitinase 6B | Często (30–79%) | W 2 chorobach |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Często (30–79%) | W 1 chorobie |
| PCGF2polycomb group ring finger 2 | Często (30–79%) | W 1 chorobie |
| PGM2L1phosphoglucomutase 2 like 1 | Często (30–79%) | W 1 chorobie |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Często (30–79%) | W 1 chorobie |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Często (30–79%) | W 1 chorobie |
| PLPBPpyridoxal phosphate binding protein | Często (30–79%) | W 1 chorobie |
| PMM2phosphomannomutase 2 | Często (30–79%) | W 2 chorobach |
| POGZpogo transposable element derived with ZNF domain | Często (30–79%) | W 2 chorobach |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Często (30–79%) | W 1 chorobie |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Często (30–79%) | W 1 chorobie |
| PWAR1Prader Willi/Angelman region RNA 1 | Często (30–79%) | W 1 chorobie |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Często (30–79%) | W 1 chorobie |
| ROR2ROR family WNT receptor 2 | Często (30–79%) | W 1 chorobie |
| RPL10ribosomal protein L10 | Często (30–79%) | W 3 chorobach |
| SATB2SATB homeobox 2 | Często (30–79%) | W 1 chorobie |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Często (30–79%) | W 1 chorobie |
| SETD5SET domain containing 5 | Często (30–79%) | W 1 chorobie |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Często (30–79%) | W 2 chorobach |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Często (30–79%) | W 1 chorobie |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Często (30–79%) | W 2 chorobach |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Często (30–79%) | W 1 chorobie |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Często (30–79%) | W 2 chorobach |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Często (30–79%) | W 1 chorobie |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Często (30–79%) | W 1 chorobie |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Często (30–79%) | W 2 chorobach |
| SOX11SRY-box transcription factor 11 | Często (30–79%) | W 1 chorobie |
| SOX4SRY-box transcription factor 4 | Często (30–79%) | W 1 chorobie |
| SRCAPSnf2 related CREBBP activator protein | Często (30–79%) | W 2 chorobach |
| SRRM2serine/arginine repetitive matrix 2 | Często (30–79%) | W 1 chorobie |
| STT3ASTT3 oligosaccharyltransferase complex catalytic subunit A | Często (30–79%) | W 1 chorobie |
| TAF1TATA-box binding protein associated factor 1 | Często (30–79%) | W 2 chorobach |
| TASP1taspase 1 | Często (30–79%) | W 1 chorobie |
| TBC1D24TBC1 domain family member 24 | Często (30–79%) | W 2 chorobach |
| TLK2tousled like kinase 2 | Często (30–79%) | W 1 chorobie |
| TMEM94transmembrane protein 94 | Często (30–79%) | W 1 chorobie |
| TPRtranslocated promoter region, nuclear basket protein | Często (30–79%) | W 1 chorobie |
| TTC5tetratricopeptide repeat domain 5 | Często (30–79%) | W 1 chorobie |
| WASHC4WASH complex subunit 4 | Często (30–79%) | W 1 chorobie |
| ZFXzinc finger protein X-linked | Często (30–79%) | W 1 chorobie |
| ADARB1adenosine deaminase RNA specific B1 | Czasami (5–29%) | W 1 chorobie |
| ADGRG6adhesion G protein-coupled receptor G6 | Czasami (5–29%) | W 1 chorobie |
| AFF3ALF transcription elongation factor 3 | Czasami (5–29%) | W 1 chorobie |
| AFF4ALF transcription elongation factor 4 | Czasami (5–29%) | W 1 chorobie |
| AGR2anterior gradient 2, protein disulphide isomerase family member | Czasami (5–29%) | W 1 chorobie |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Czasami (5–29%) | W 2 chorobach |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Czasami (5–29%) | W 1 chorobie |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Czasami (5–29%) | W 2 chorobach |
| ARMC9armadillo repeat containing 9 | Czasami (5–29%) | W 1 chorobie |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Czasami (5–29%) | W 1 chorobie |
| ASXL2ASXL transcriptional regulator 2 | Czasami (5–29%) | W 1 chorobie |
| ASXL3ASXL transcriptional regulator 3 | Czasami (5–29%) | W 1 chorobie |
| ATXN7L3ataxin 7 like 3 | Czasami (5–29%) | W 1 chorobie |
| B4GALT1beta-1,4-galactosyltransferase 1 | Czasami (5–29%) | W 1 chorobie |
| BCKDKbranched chain keto acid dehydrogenase kinase | Czasami (5–29%) | W 1 chorobie |
| CAPRIN1cell cycle associated protein 1 | Czasami (5–29%) | W 1 chorobie |
| CDC42BPBCDC42 binding protein kinase beta | Czasami (5–29%) | W 1 chorobie |
| CDK13cyclin dependent kinase 13 | Czasami (5–29%) | W 1 chorobie |
| CSNK2A1casein kinase 2 alpha 1 | Czasami (5–29%) | W 1 chorobie |
| CTNNB1catenin beta 1 | Czasami (5–29%) | W 2 chorobach |
| CUX1cut like homeobox 1 | Czasami (5–29%) | W 1 chorobie |
| DDB1damage specific DNA binding protein 1 | Czasami (5–29%) | W 1 chorobie |
| DHPSdeoxyhypusine synthase | Czasami (5–29%) | W 1 chorobie |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Czasami (5–29%) | W 2 chorobach |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Czasami (5–29%) | W 1 chorobie |
| FBXO11F-box protein 11 | Czasami (5–29%) | W 1 chorobie |
| GAD1glutamate decarboxylase 1 | Czasami (5–29%) | W 1 chorobie |
| GJA5gap junction protein alpha 5 | Czasami (5–29%) | W 1 chorobie |
| GJA8gap junction protein alpha 8 | Czasami (5–29%) | W 1 chorobie |
| GNAI1G protein subunit alpha i1 | Czasami (5–29%) | W 1 chorobie |
| GNB2G protein subunit beta 2 | Czasami (5–29%) | W 1 chorobie |
| H4C5H4 clustered histone 5 | Czasami (5–29%) | W 1 chorobie |
| HK1hexokinase 1 | Czasami (5–29%) | W 1 chorobie |
| KATNB1katanin regulatory subunit B1 | Czasami (5–29%) | W 1 chorobie |
| KCNJ5potassium inwardly rectifying channel subfamily J member 5 | Czasami (5–29%) | W 1 chorobie |
| KDM5Clysine demethylase 5C | Czasami (5–29%) | W 1 chorobie |
| KIF15kinesin family member 15 | Czasami (5–29%) | W 1 chorobie |
| KLHL20kelch like family member 20 | Czasami (5–29%) | W 1 chorobie |
| MAPRE2microtubule associated protein RP/EB family member 2 | Czasami (5–29%) | W 1 chorobie |
| MED12mediator complex subunit 12 | Czasami (5–29%) | W 1 chorobie |
| MED12Lmediator complex subunit 12L | Czasami (5–29%) | W 1 chorobie |
| MEF2Cmyocyte enhancer factor 2C | Czasami (5–29%) | W 1 chorobie |
| MPC1mitochondrial pyruvate carrier 1 | Czasami (5–29%) | W 1 chorobie |
| NDNnecdin, MAGE family member | Czasami (5–29%) | W 1 chorobie |
| NONOnon-POU domain containing octamer binding | Czasami (5–29%) | W 1 chorobie |
| OCA2OCA2 melanosomal transmembrane protein | Czasami (5–29%) | W 1 chorobie |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Czasami (5–29%) | W 1 chorobie |
| ODC1ornithine decarboxylase 1 | Czasami (5–29%) | W 1 chorobie |
| PACS1phosphofurin acidic cluster sorting protein 1 | Czasami (5–29%) | W 2 chorobach |
| PDE4Dphosphodiesterase 4D | Czasami (5–29%) | W 1 chorobie |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Czasami (5–29%) | W 1 chorobie |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Czasami (5–29%) | W 1 chorobie |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Czasami (5–29%) | W 1 chorobie |
| PRKAR1Bprotein kinase cAMP-dependent type I regulatory subunit beta | Czasami (5–29%) | W 1 chorobie |
| PRKDCprotein kinase, DNA-activated, catalytic subunit | Czasami (5–29%) | W 1 chorobie |
| PURApurine rich element binding protein A | Czasami (5–29%) | W 1 chorobie |
| RAI1retinoic acid induced 1 | Czasami (5–29%) | W 1 chorobie |
| RAP1BRAP1B, member of RAS oncogene family | Czasami (5–29%) | W 1 chorobie |
| RFX7regulatory factor X7 | Czasami (5–29%) | W 1 chorobie |
| RHOBTB2Rho related BTB domain containing 2 | Czasami (5–29%) | W 1 chorobie |
| SETBP1SET binding protein 1 | Czasami (5–29%) | W 1 chorobie |
| SHMT2serine hydroxymethyltransferase 2 | Czasami (5–29%) | W 1 chorobie |
| SIM1SIM bHLH transcription factor 1 | Czasami (5–29%) | W 1 chorobie |
| SIN3ASIN3 transcription regulator family member A | Czasami (5–29%) | W 1 chorobie |
| SLC26A2solute carrier family 26 member 2 | Czasami (5–29%) | W 1 chorobie |
| SLC6A1solute carrier family 6 member 1 | Czasami (5–29%) | W 2 chorobach |
| SLC6A11solute carrier family 6 member 11 | Czasami (5–29%) | W 1 chorobie |
| SLC9A7solute carrier family 9 member A7 | Czasami (5–29%) | W 1 chorobie |
| SMC1Astructural maintenance of chromosomes 1A | Czasami (5–29%) | W 2 chorobach |
| SMPD4sphingomyelin phosphodiesterase 4 | Czasami (5–29%) | W 1 chorobie |
| SPENspen family transcriptional repressor | Czasami (5–29%) | W 1 chorobie |
| STEEP1STING1 ER exit protein 1 | Czasami (5–29%) | W 1 chorobie |
| SYT1synaptotagmin 1 | Czasami (5–29%) | W 2 chorobach |
| TAF6TATA-box binding protein associated factor 6 | Czasami (5–29%) | W 1 chorobie |
| TBC1D32TBC1 domain family member 32 | Czasami (5–29%) | W 1 chorobie |
| TBL1XR1TBL1X/Y related 1 | Czasami (5–29%) | W 1 chorobie |
| TMEM147transmembrane protein 147 | Czasami (5–29%) | W 1 chorobie |
| TNRC6Btrinucleotide repeat containing adaptor 6B | Czasami (5–29%) | W 1 chorobie |
| TRIOtrio Rho guanine nucleotide exchange factor | Czasami (5–29%) | W 1 chorobie |
| TRIP12thyroid hormone receptor interactor 12 | Czasami (5–29%) | W 1 chorobie |
| TRMT10AtRNA methyltransferase 10A | Czasami (5–29%) | W 1 chorobie |
| TUBGCP2tubulin gamma complex component 2 | Czasami (5–29%) | W 1 chorobie |
| USP9Xubiquitin specific peptidase 9 X-linked | Czasami (5–29%) | W 1 chorobie |
| WACWW domain containing adaptor with coiled-coil | Czasami (5–29%) | W 2 chorobach |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Czasami (5–29%) | W 1 chorobie |
| WDR26WD repeat domain 26 | Czasami (5–29%) | W 1 chorobie |
| WDR83OSWD repeat domain 83 opposite strand | Czasami (5–29%) | W 1 chorobie |
| ZNF292zinc finger protein 292 | Czasami (5–29%) | W 1 chorobie |
| ZNF526zinc finger protein 526 | Czasami (5–29%) | W 1 chorobie |
| CHD2chromodomain helicase DNA binding protein 2 | Rzadko (1–4%) | W 1 chorobie |
| CNTNAP2contactin associated protein 2 | Rzadko (1–4%) | W 1 chorobie |
| NEXMIFneurite extension and migration factor | Rzadko (1–4%) | W 1 chorobie |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Rzadko (1–4%) | W 1 chorobie |
| RNU4-2RNA, U4 small nuclear 2 | Rzadko (1–4%) | W 1 chorobie |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Rzadko (1–4%) | W 1 chorobie |
| SLC2A1solute carrier family 2 member 1 | Rzadko (1–4%) | W 1 chorobie |
| SPTBN1spectrin beta, non-erythrocytic 1 | Rzadko (1–4%) | W 1 chorobie |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Rzadko (1–4%) | W 1 chorobie |
| ACTG1actin gamma 1 | Nie odnotowano | W 1 chorobie |
| AGLamylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase | Nie odnotowano | W 1 chorobie |
| AGO1argonaute RISC component 1 | Nie odnotowano | W 1 chorobie |
| ARHGEF2Rho/Rac guanine nucleotide exchange factor 2 | Nie odnotowano | W 1 chorobie |
| ATN1atrophin 1 | Nie odnotowano | W 1 chorobie |
| ATRXATRX chromatin remodeler | Nie odnotowano | W 1 chorobie |
| CDK10cyclin dependent kinase 10 | Nie odnotowano | W 1 chorobie |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Nie odnotowano | W 1 chorobie |
| CLTCclathrin heavy chain | Nie odnotowano | W 1 chorobie |
| FOXG1forkhead box G1 | Nie odnotowano | W 1 chorobie |
| GLIS3GLIS family zinc finger 3 | Nie odnotowano | W 1 chorobie |
| IGF1Rinsulin like growth factor 1 receptor | Nie odnotowano | W 1 chorobie |
| KAT6Blysine acetyltransferase 6B | Nie odnotowano | W 1 chorobie |
| KIF11kinesin family member 11 | Nie odnotowano | W 1 chorobie |
| LMBRD1LMBR1 domain containing 1 | Nie odnotowano | W 1 chorobie |
| MBD5methyl-CpG binding domain protein 5 | Nie odnotowano | W 1 chorobie |
| MED13mediator complex subunit 13 | Nie odnotowano | W 1 chorobie |
| MID1midline 1 | Nie odnotowano | W 1 chorobie |
| MTORmechanistic target of rapamycin kinase | Nie odnotowano | W 1 chorobie |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Nie odnotowano | W 1 chorobie |
| NALCNsodium leak channel, non-selective | Nie odnotowano | W 1 chorobie |
| NFIAnuclear factor I A | Nie odnotowano | W 1 chorobie |
| PBX1PBX homeobox 1 | Nie odnotowano | W 1 chorobie |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Nie odnotowano | W 1 chorobie |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Nie odnotowano | W 1 chorobie |
| PIGKphosphatidylinositol glycan anchor biosynthesis class K | Nie odnotowano | W 1 chorobie |
| PQBP1polyglutamine binding protein 1 | Nie odnotowano | W 1 chorobie |
| RALARAS like proto-oncogene A | Nie odnotowano | W 1 chorobie |
| SLC25A24solute carrier family 25 member 24 | Nie odnotowano | W 1 chorobie |
| STAG2STAG2 cohesin complex component | Nie odnotowano | W 1 chorobie |
| TCF20transcription factor 20 | Nie odnotowano | W 1 chorobie |
| THUMPD1THUMP domain 1 NAT10 acetyltransferase adaptor | Nie odnotowano | W 1 chorobie |
| TRRAPtransformation/transcription domain associated protein | Nie odnotowano | W 1 chorobie |
| UNC80unc-80 subunit of NALCN channel complex | Nie odnotowano | W 1 chorobie |
| WNT5AWnt family member 5A | Nie odnotowano | W 1 chorobie |
| ZBTB18zinc finger and BTB domain containing 18 | Nie odnotowano | W 1 chorobie |
Jak często występuje wśród osób z jedną z chorób związanych z tym genem, najczęściej spośród wszystkich, według danych Human Phenotype Ontology. Te strony opisują cechy i badania, na których się opierają; nie są diagnozą, a w sprawie objawów należy zwrócić się do lekarza lub doradcy genetycznego.
Cechy nadrzędne
Skąd pochodzą te dane
- Human Phenotype Ontology, wydanie 2026-09-01: cecha, jej nazwy, definicja oraz geny z nią powiązane. Więcej informacji znajdą Państwo na stronie hpo.jax.org.
- Wydanie danych 2026.10.16-c6eea6bf.
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